Temat: "Mutation" - OpacWWW

Skocz do pozycji: 1 1.

Tytuł :: Variant analysis of the first Lebanese SARS-CoV-2 isolates.
Autorzy :: Abou-Hamdan M; Biology department, Faculty of sciences (I), Lebanese University, Beirut, LB, Lebanon.
Hamze K; Biology department, Faculty of sciences (I), Lebanese University, Beirut, LB, Lebanon.
Abdel Sater A; Faculty of Medicine, Lebanese University, Beirut, LB, Lebanon.
Akl H; Biology department, Faculty of sciences (I), Lebanese University, Beirut, LB, Lebanon.
El-Zein N; Biology department, Faculty of sciences (I), Lebanese University, Beirut, LB, Lebanon.
Dandache I; Biology department, Faculty of sciences (I), Lebanese University, Beirut, LB, Lebanon.
Abdel-Sater F; Biochemistry department, Faculty of sciences (I), Lebanese University, Beirut, LB, Lebanon. Electronic address: .; Pokaż więcej
Źródło :: Genomics [Genomics] 2021 Jan; Vol. 113 (1 Pt 2), pp. 892-895. Date of Electronic Publication: 2020 Oct 20.
Typ publikacji :: Journal Article
MeSH Terms :: Genetic Variation*
Genome, Viral*
Mutation*
COVID-19/*virology
SARS-CoV-2/*genetics
COVID-19/epidemiology ; COVID-19 Nucleic Acid Testing ; Codon, Terminator ; Evolution, Molecular ; Frameshift Mutation ; Humans ; Lebanon/epidemiology ; Mutation, Missense ; Pandemics ; SARS-CoV-2/isolation & purification ; Sequence Alignment ; Spike Glycoprotein, Coronavirus/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Different mutations in SARS-CoV-2 associate with severe and mild outcome.
Autorzy :: Nagy Á; Department of Bioinformatics, Semmelweis University, Budapest, Hungary; TTK Momentum Cancer Biomarker Research Group, Budapest, Hungary.
Pongor S; Faculty of Information Technology and Bionics, Pázmány Péter Catholic University, Budapest, Hungary.
Győrffy B; Department of Bioinformatics, Semmelweis University, Budapest, Hungary; TTK Momentum Cancer Biomarker Research Group, Budapest, Hungary. Electronic address: .; Pokaż więcej
Źródło :: International journal of antimicrobial agents [Int J Antimicrob Agents] 2021 Feb; Vol. 57 (2), pp. 106272. Date of Electronic Publication: 2020 Dec 23.
Typ publikacji :: Journal Article
MeSH Terms :: Mutation*
COVID-19/*drug therapy
COVID-19/*etiology
SARS-CoV-2/*genetics
Coronavirus Nucleocapsid Proteins/genetics ; Female ; Hospitalization ; Humans ; Male ; Mutation Rate ; Viral Nonstructural Proteins/genetics ; Viral Proteins/genetics ; Viroporin Proteins/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction.
Autorzy :: den Hoed J; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; International Max Planck Research School for Language Sciences, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands.
de Boer E; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.
Voisin N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Dingemans AJM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.
Guex N; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland; Bioinformatics Competence Center, University of Lausanne, 1015 Lausanne, Switzerland.
Wiel L; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands; Center for Molecular and Biomolecular Informatics of the Radboudumc, 6500 HB Nijmegen, the Netherlands.
Nellaker C; Nuffield Department of Women's and Reproductive Health, University of Oxford, Women's Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK; Institute of Biomedical Engineering, Department of Engineering Science, University of Oxford, Oxford OX3 7DQ, UK; Big Data Institute, Li Ka Shing Centre for Health Information and Discovery, University of Oxford, Oxford OX3 7LF, UK.
Amudhavalli SM; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Banka S; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
Bena FS; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland.
Ben-Zeev B; Edmomd and Lilly Safra Pediatric Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Ramat Aviv 69978, Israel.
Bonagura VR; Institute of Molecular Medicine, Feinstein Institutes for Medical Research, Manhasset, NY 11030, USA; Pediatrics and Molecular Medicine, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.
Bruel AL; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.
Brunet T; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany.
Brunner HG; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands; Maastricht University Medical Center, Department of Clinical Genetics, GROW School for Oncology and Developmental Biology, and MHeNS School for Mental health and Neuroscience, PO Box 5800, 6202AZ Maastricht, the Netherlands.
Chew HB; Department of Genetics, Kuala Lumpur Hospital, Jalan Pahang, 50586 Kuala Lumpur, Malaysia.
Chrast J; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Cimbalistienė L; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Coon H; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT 84112, USA.
Délot EC; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.
Démurger F; Department of clinical genetics, Vannes hospital, 56017 Vannes, France.
Denommé-Pichon AS; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.
Depienne C; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Donnai D; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK.
Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.
Elpeleg O; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.
Faivre L; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France; Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
Gilissen C; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6500 HB Nijmegen, the Netherlands.
Granger L; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.
Haber B; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Hachiya Y; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.
Abedi YH; Division of Allergy and Immunology, Northwell Health, Great Neck, NY 11021, USA; Departments of Medicine and Pediatrics, Donald and Barbara Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA.
Hanebeck J; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, the Netherlands.
Horist B; Pediatrics & Genetics, Alpharetta, GA 30005, USA.
Itai T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Jackson A; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK.
Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds LS7 4SA, UK.
Jones KL; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA 23507, USA.
Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow G51 4TF, UK.
Kashii H; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo 183-0042, Japan.
Kato M; Department of Pediatrics, Showa University School of Medicine, Shinagawa-ku, Tokyo 142-8666, Japan.
Kattentidt-Mouravieva AA; Zuidwester, 3240AA Middelharnis, the Netherlands.
Kok F; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil; University of Sao Paulo, School of Medicine, Sao Paulo, SP 01246-903, Brazil.
Kotzaeridou U; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Krishnamurthy V; Pediatrics & Genetics, Alpharetta, GA 30005, USA.
Kučinskas V; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Kuechler A; Institute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, 45147 Essen, Germany.
Lavillaureix A; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.
Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics, Houston, TX 77021, USA.
Manwaring L; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.
Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Mazel B; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, 21079 Dijon, France.
McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Meiner V; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.
Mikati MA; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.
Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa 236-0004, Japan.
Moey LH; Department of Genetics, Penang General Hospital, Jalan Residensi, 10990 Georgetown, Penang, Malaysia.
Mohammed S; Clinical Genetics, Guy's Hospital, Great Maze Pond, London SE1 9RT, UK.
Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Hebrew University Medical Center, 91120 Jerusalem, Israel.
Mountford H; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.
Newbury-Ecob R; Clinical Genetics, St Michael's Hospital Bristol, University Hospitals Bristol NHS Foundation Trust, Bristol BS2 8EG, UK.
Odent S; CHU Rennes, Univ Rennes, CNRS, IGDR, Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, Hôpital Sud, 35033 Rennes, France.
Orec L; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany.
Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada.
Palculict TB; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Parker M; Sheffield Clinical Genetics Service, Sheffield Children's Hospital, Sheffield S5 7AU, UK.
Petersen AK; Department of Rehabilitation and Development, Randall Children's Hospital at Legacy Emanuel Medical Center, Portland, OR 97227, USA.
Pfundt R; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands.
Preikšaitienė E; Department of Human and Medical Genetics, Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 08661 Vilnius, Lithuania.
Radtke K; Clinical Genomics Department, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Ranza E; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, Swiss Institute of Genomic Medicine, 1207 Geneva, Switzerland.
Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Santiago-Sim T; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Schwager C; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, 6229 ER Maastricht, the Netherlands.
Snijders Blok L; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.
Spillmann RC; Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, NC 27713, USA.
Stegmann APA; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center+, azM, 6202 AZ Maastricht, the Netherlands.
Thiffault I; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA.
Tran L; Division of Pediatric Neurology, Duke University Medical Center, Durham, NC 27710, USA.
Vaknin-Dembinsky A; Department of Neurology and Laboratory of Neuroimmunology, The Agnes Ginges Center for Neurogenetics, Hadassah Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, 91120 Jerusalem, Israel.
Vedovato-Dos-Santos JH; Mendelics Genomic Analysis, Sao Paulo, SP 04013-000, Brazil.
Schrier Vergano SA; Division of Medical Genetics & Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA 23507, USA.
Vilain E; Center for Genetic Medicine Research, Children's National Hospital, Children's Research Institute and Department of Genomics and Precision Medicine, George Washington University, Washington, DC 20010, USA.
Vitobello A; UMR1231-Inserm, Génétique des Anomalies du développement, Université de Bourgogne Franche-Comté, 21070 Dijon, France; Laboratoire de Génétique chromosomique et moléculaire, UF6254 Innovation en diagnostic génomique des maladies rares, Centre Hospitalier Universitaire de Dijon, 21070 Dijon, France.
Wagner M; Institute of Human Genetics, Technical University of Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
Waheeb A; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON K1H 5B2, Canada; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Willing M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO 63110-1093, USA.
Zuccarelli B; The University of Kansas School of Medicine Salina Campus, Salina, KS 67401, USA.
Kini U; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford OX3 7LE, UK.
Newbury DF; Department of Biological and Medical Sciences, Headington Campus, Oxford Brookes University, Oxford OX3 0BP, UK.
Kleefstra T; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.
Reymond A; Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
Fisher SE; Language and Genetics Department, Max Planck Institute for Psycholinguistics, 6500 AH Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands. Electronic address: .
Vissers LELM; Department of Human Genetics, Radboudumc, 6500 HB Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6500 GL Nijmegen, the Netherlands.; Pokaż więcej
Corporate Authors :: DDD Study; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Źródło :: American journal of human genetics [Am J Hum Genet] 2021 Feb 04; Vol. 108 (2), pp. 346-356. Date of Electronic Publication: 2021 Jan 28.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Matrix Attachment Region Binding Proteins/*genetics
Neurodevelopmental Disorders/*genetics
Chromatin/metabolism ; Female ; Genetic Association Studies ; Haploinsufficiency ; Humans ; Male ; Matrix Attachment Region Binding Proteins/chemistry ; Matrix Attachment Region Binding Proteins/metabolism ; Models, Molecular ; Mutation, Missense ; Protein Binding ; Protein Domains ; Transcription, Genetic
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: A pan-cancer atlas of somatic mutations in miRNA biogenesis genes.
Autorzy :: Galka-Marciniak P; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Urbanek-Trzeciak MO; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Nawrocka PM; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.
Kozlowski P; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Poznan, Poland.; Pokaż więcej
Źródło :: Nucleic acids research [Nucleic Acids Res] 2021 Jan 25; Vol. 49 (2), pp. 601-620.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
DEAD-box RNA Helicases/*genetics
MicroRNAs/*biosynthesis
Neoplasm Proteins/*genetics
Neoplasms/*genetics
RNA, Neoplasm/*biosynthesis
Ribonuclease III/*genetics
Smad2 Protein/*genetics
Smad4 Protein/*genetics
DEAD-box RNA Helicases/metabolism ; Datasets as Topic ; Gene Expression Regulation, Neoplastic ; Genes, Neoplasm ; Genome-Wide Association Study ; Humans ; MicroRNAs/genetics ; Models, Molecular ; Mutation, Missense ; Neoplasm Proteins/metabolism ; Neoplasms/metabolism ; Neoplasms/mortality ; Protein Conformation ; RNA, Neoplasm/genetics ; Ribonuclease III/metabolism ; Smad2 Protein/chemistry ; Smad2 Protein/metabolism ; Smad4 Protein/chemistry ; Smad4 Protein/metabolism
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Trends of mutation accumulation across global SARS-CoV-2 genomes: Implications for the evolution of the novel coronavirus.
Autorzy :: Roy C; College of Veterinary Medicine, Western University of Health Sciences, 309 East Second Street, Pomona, CA 91766, USA.
Mandal SM; Central Research Facility, Indian Institute of Technology Kharagpur, Kharagpur 721302, West Bengal, India.
Mondal SK; Central Research Facility, Indian Institute of Technology Kharagpur, Kharagpur 721302, West Bengal, India.
Mukherjee S; Department of Botany, Prasannadeb Women's College, Jalpaiguri, West Bengal, India.
Mapder T; Division of Clinical Pharmacology, Department of Medicine, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Ghosh W; Department of Microbiology, Bose Institute, P-1/12 CIT Scheme VII M, Kolkata 700054, West Bengal, India. Electronic address: .
Chakraborty R; Department of Biotechnology, University of North Bengal, Raja Rammohanpur, Darjeeling 734013, West Bengal, India. Electronic address: .; Pokaż więcej
Źródło :: Genomics [Genomics] 2020 Nov; Vol. 112 (6), pp. 5331-5342. Date of Electronic Publication: 2020 Nov 05.
Typ publikacji :: Journal Article
MeSH Terms :: Evolution, Molecular*
Genome, Viral*
Mutation Accumulation*
SARS-CoV-2/*genetics
Asia ; Genomics/methods ; India ; Mutation Rate ; Mutation, Missense ; Phylogeny ; Spike Glycoprotein, Coronavirus/genetics ; Viral Proteins/genetics ; Viroporin Proteins/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 6 6.

Tytuł :: Observation of nine previously reported and 10 non-reported SLC4A11 mutations among 20 Iranian CHED probands and identification of an MPDZ mutation as possible cause of CHED and FECD in one family.
Autorzy :: Moazzeni H; School of Biology, College of Science,University of Tehran, Tehran, Iran.; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Javadi MA; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran.
Asgari D; School of Biology, College of Science,University of Tehran, Tehran, Iran.
Khani M; School of Biology, College of Science,University of Tehran, Tehran, Iran.
Emami M; School of Biology, College of Science,University of Tehran, Tehran, Iran.
Moghadam A; School of Biology, College of Science,University of Tehran, Tehran, Iran.
Panahi-Bazaz MR; Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Hosseini Tehrani M; Farabi Eye Research Center, Tehran University of Medical Sciences, Tehran, Iran.
Karimian F; Ophthalmic Research Center, Shahid BeheshtiUniversity of Medical Sciences, Tehran, Iran.
Hosseini B; Central Eye Bank of Iran, Tehran, Iran.
Nekuie Moghadam T; School of Biology, College of Science,University of Tehran, Tehran, Iran.
Hassanpour H; School of Biology, College of Science,University of Tehran, Tehran, Iran.
Akbari MT; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Elahi E; School of Biology, College of Science,University of Tehran, Tehran, Iran .; Pokaż więcej
Źródło :: The British journal of ophthalmology [Br J Ophthalmol] 2020 Nov; Vol. 104 (11), pp. 1621-1628. Date of Electronic Publication: 2019 Aug 16.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :: Mutation*
Anion Transport Proteins/*genetics
Antiporters/*genetics
Corneal Dystrophies, Hereditary/*genetics
Fuchs' Endothelial Dystrophy/*genetics
Membrane Proteins/*genetics
Polymorphism, Single Nucleotide/*genetics
Codon, Nonsense/genetics ; Consanguinity ; Corneal Dystrophies, Hereditary/diagnosis ; DNA Mutational Analysis ; Exome/genetics ; Female ; Frameshift Mutation/genetics ; Fuchs' Endothelial Dystrophy/diagnosis ; Humans ; Introns/genetics ; Iran ; Male ; Mutation, Missense/genetics ; Pedigree
SCR Disease Name :: Corneal endothelial dystrophy type 2
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: Pathogenesis of CDK8-associated disorder: two patients with novel CDK8 variants and in vitro and in vivo functional analyses of the variants.
Autorzy :: Uehara T; Center for Medical Genetics, Keio University Hospital, Tokyo, Japan.
Abe K; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Oginuma M; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Ishitani S; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan.; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan.
Yoshihashi H; Department of Genetics, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Kosaki K; Center for Medical Genetics, Keio University Hospital, Tokyo, Japan.
Ishitani T; Institute for Molecular and Cellular Regulation, Gunma University, Maebashi, Japan. .; Department of Homeostatic Regulation, Research Institute for Microbial Diseases, Osaka University, 3-1 Yamadaoka, Suita, Osaka, 565-0871, Japan. .; Pokaż więcej
Źródło :: Scientific reports [Sci Rep] 2020 Oct 16; Vol. 10 (1), pp. 17575. Date of Electronic Publication: 2020 Oct 16.
Typ publikacji :: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation, Missense*
Point Mutation*
Cyclin-Dependent Kinase 8/*genetics
Neurodevelopmental Disorders/*genetics
Abnormalities, Multiple/genetics ; Animals ; Child ; Craniofacial Abnormalities/genetics ; Cyclin-Dependent Kinase 8/antagonists & inhibitors ; Cyclin-Dependent Kinase 8/deficiency ; Cyclin-Dependent Kinase 8/physiology ; Cyclin-Dependent Kinases/physiology ; Embryo, Nonmammalian/abnormalities ; Embryo, Nonmammalian/enzymology ; Female ; Heart Defects, Congenital/genetics ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Infant ; Intellectual Disability/genetics ; Loss of Function Mutation ; Male ; Protein Domains ; Protein Kinase Inhibitors/pharmacology ; RNA, Messenger/biosynthesis ; RNA, Messenger/genetics ; Zebrafish/embryology ; Zebrafish Proteins/antagonists & inhibitors ; Zebrafish Proteins/physiology
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 8 8.

Tytuł :: Mutation bias can shape adaptation in large asexual populations experiencing clonal interference.
Autorzy :: Gomez K; Graduate Interdisciplinary Program in Applied Mathematics, University of Arizona, Tucson, AZ, USA.
Bertram J; Environmental Resilience Institute, Indiana University, Bloomington, IN, USA.; Department of Biology, Indiana University, Bloomington, IN, USA.
Masel J; Department of Ecology and Evolutionary Biology, University of Arizona, Tucson, AZ, USA.; Pokaż więcej
Źródło :: Proceedings. Biological sciences [Proc Biol Sci] 2020 Oct 28; Vol. 287 (1937), pp. 20201503. Date of Electronic Publication: 2020 Oct 21.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :: Genetics, Population*
Mutation Rate*
Adaptation, Physiological/*genetics
Mutation ; Reproduction, Asexual/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Autorzy :: Byrjalsen A; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Hansen TVO; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Stoltze UK; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Mehrjouy MM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Barnkob NM; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.
Hjalgrim LL; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Mathiasen R; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Lautrup CK; Department of Clinical Genetics, Aalborg University Hospital, Aalborg, Denmark.
Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Hasle H; Department of Paediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Wehner PS; Department of Paediatric Hematology and Oncology, H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Tuckuviene R; Department of Paediatrics and Adolescent Medicine, Aalborg University Hospital, Aalborg, Denmark.
Sackett PW; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.
Laspiur AO; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.
Rossing M; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Marvig RL; Center for Genomic Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Tommerup N; Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark.
Olsen TE; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Scheie D; Department of Pathology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Gupta R; Department of Health Technology, Technical University of Denmark, Copenhagen, Denmark.
Gerdes AM; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Schmiegelow K; Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Institute of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Wadt K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.; Pokaż więcej
Źródło :: PLoS genetics [PLoS Genet] 2020 Dec 17; Vol. 16 (12), pp. e1009231. Date of Electronic Publication: 2020 Dec 17 (Print Publication: 2020).
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Germ-Line Mutation*
Genetic Testing/*statistics & numerical data
Neoplastic Syndromes, Hereditary/*epidemiology
Whole Genome Sequencing/*statistics & numerical data
Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Incidence ; Infant ; Male ; Mutation Rate ; Neoplastic Syndromes, Hereditary/genetics
: Czasopismo naukowe

Szczegóły Pełny tekst

Skocz do pozycji: 10 10.

Tytuł :: Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.
Autorzy :: Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Kutzner CE; Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany.
Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Lornage X; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, Université de Strasbourg, BP 10142, 67404 Illkirch, France.
Rendu J; Centre Hospitalier Universitaire de Grenoble Alpes, Biochimie Génétique et Moléculaire, Grenoble 38000, France; Grenoble Institut des Neurosciences-INSERM U1216 UGA, Grenoble 38000, France.
Stojkovic T; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, GHU La Pitié-Salpêtrière, Sorbonne Université, AP-HP, 75013 Paris, France.
Baets J; Faculty of Medicine, University of Antwerp, 2610 Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2650 Antwerp, Belgium.
Neuhaus SB; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Tanboon J; Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 10700 Bangkok, Thailand; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 187-8502 Tokyo, Japan.
Maroofian R; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Bolduc V; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Mroczek M; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Conijn S; Department of Physiology, Amsterdam UMC (location VUmc), 1081 HZ Amsterdam, the Netherlands.
Kuntz NL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK.
Monges S; Servicio de Neurología y Servicio de Patologia, Hospital de Pediatría Garrahan, C1245 AAM Buenos Aires, Argentina.
Lubieniecki F; Servicio de Neurología y Servicio de Patologia, Hospital de Pediatría Garrahan, C1245 AAM Buenos Aires, Argentina.
McCarty RM; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
Governali S; Department of Physiology, Amsterdam UMC (location VUmc), 1081 HZ Amsterdam, the Netherlands.
Böhm J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, Université de Strasbourg, BP 10142, 67404 Illkirch, France.
Boonyapisit K; Department of Medicine, Faculty of Medicine, Siriraj Hospital, Mahidol, University, 10700 Bangkok, Thailand.
Malfatti E; Neurology Department, Raymond-Poincaré teaching hospital, centre de référence des maladies neuromusculaires Nord/Est/Ile-de-France, AP-HP, 92380 Garches, France.
Sangruchi T; Department of Pathology, Faculty of Medicine, Siriraj Hospital, Mahidol University, 10700 Bangkok, Thailand.
Horkayne-Szakaly I; Joint Pathology Center, Defense Health Agency, Silver Spring, MD 20910, USA.
Hedberg-Oldfors C; Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden.
Efthymiou S; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Noguchi S; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 187-8502 Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan.
Djeddi S; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, Université de Strasbourg, BP 10142, 67404 Illkirch, France.
Iida A; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan.
di Rosa G; Division of Child Neurology and Psychiatry, Department of the Adult and Developmental Age Human Pathology, University of Messina, Messina 98125, Italy.
Fiorillo C; Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy.
Salpietro V; Pediatric Neurology and Muscular Diseases Unit, G. Gaslini Institute, 16147 Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy.
Darin N; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy at University of Gothenburg, 41650 Gothenburg, Sweden.
Fauré J; Centre Hospitalier Universitaire de Grenoble Alpes, Biochimie Génétique et Moléculaire, Grenoble 38000, France; Grenoble Institut des Neurosciences-INSERM U1216 UGA, Grenoble 38000, France.
Houlden H; Department of Neuromuscular Disorders, University College London Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Oldfors A; Department of Laboratory Medicine, Sahlgrenska Academy, University of Gothenburg, 405 30 Gothenburg, Sweden.
Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 187-8502 Tokyo, Japan; Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry, 187-8551 Tokyo, Japan.
de Ridder W; Faculty of Medicine, University of Antwerp, 2610 Antwerp, Belgium; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, 2610 Antwerp, Belgium; Neuromuscular Reference Centre, Department of Neurology, Antwerp University Hospital, 2650 Antwerp, Belgium.
Straub V; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 3BZ, UK; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne NE7 7DN, UK.
Pokrzywa W; Laboratory of Protein Metabolism in Development and Aging, International Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland.
Laporte J; Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U1258, CNRS UMR7104, Université de Strasbourg, BP 10142, 67404 Illkirch, France.
Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Romero NB; Centre de Référence des Maladies Neuromusculaires Nord/Est/Ile de France, Institut de Myologie, GHU La Pitié-Salpêtrière, Sorbonne Université, AP-HP, 75013 Paris, France; Université Sorbonne, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 75651 Paris, France; Neuromuscular Morphology Unit, Myology Institute, GHU Pitié-Salpêtrière, 75013 Paris, France.
Ottenheijm C; Department of Physiology, Amsterdam UMC (location VUmc), 1081 HZ Amsterdam, the Netherlands; Department of Cellular and Molecular Medicine, University of Arizona, Tucson, AZ 85718, USA.
Hoppe T; Institute for Genetics and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany. Electronic address: .
Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: .; Pokaż więcej
Źródło :: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1078-1095. Date of Electronic Publication: 2020 Nov 19.
Typ publikacji :: Journal Article
MeSH Terms :: Mutation, Missense*
Caenorhabditis elegans Proteins/*genetics
Caenorhabditis elegans Proteins/*physiology
Molecular Chaperones/*genetics
Molecular Chaperones/*physiology
Muscular Diseases/*genetics
Adolescent ; Adult ; Alleles ; Animals ; Caenorhabditis elegans ; Female ; Genetic Variation ; Humans ; Loss of Function Mutation ; Male ; Muscle, Skeletal/pathology ; Myofibrils ; Myosins ; Sarcomeres/metabolism ; Sequence Analysis, RNA ; Transgenes ; Whole Exome Sequencing ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 11 11.

Tytuł :: Acquired genetic changes in human pluripotent stem cells: origins and consequences.
Autorzy :: Halliwell J; Centre for Stem Cell Biology, Department of Biomedical Science, The University of Sheffield, Sheffield, UK.
Barbaric I; Centre for Stem Cell Biology, Department of Biomedical Science, The University of Sheffield, Sheffield, UK. .
Andrews PW; Centre for Stem Cell Biology, Department of Biomedical Science, The University of Sheffield, Sheffield, UK. .; Pokaż więcej
Źródło :: Nature reviews. Molecular cell biology [Nat Rev Mol Cell Biol] 2020 Dec; Vol. 21 (12), pp. 715-728. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :: Mutation Accumulation*
Clonal Evolution/*genetics
Pluripotent Stem Cells/*metabolism
Cell Culture Techniques/methods ; Cell Culture Techniques/standards ; Cell Differentiation/genetics ; Cell- and Tissue-Based Therapy/methods ; Cell- and Tissue-Based Therapy/trends ; Cells, Cultured ; Clonal Evolution/physiology ; Human Embryonic Stem Cells/physiology ; Humans ; Mutation/physiology ; Pluripotent Stem Cells/physiology
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 12 12.

Tytuł :: Dental and craniofacial features associated with GNAS loss of function mutations.
Autorzy :: Le Norcy E; APHP, Odontology Department and Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR, Bretonneau Hospital, HUPNVS, Paris.; Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Dental School, University Paris Descartes, Montrouge.
Reggio-Paquet C; APHP, Odontology Department and Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR, Bretonneau Hospital, HUPNVS, Paris.
de Kerdanet M; Paediatric Endocrinology Department, Hôpital Sud CHU, Rennes.
Mignot B; Paediatric Department, Centre Hospitalier Regional Universitaire, Hopital Jean Minjoz, Besancon.
Rothenbuhler A; APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme d'Expertise Maladies Rares Paêris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin Bicetre.; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris Sud Hospital, Le Kremlin Bicêtre.
Chaussain C; APHP, Odontology Department and Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR, Bretonneau Hospital, HUPNVS, Paris.; Laboratory EA 2496 Orofacial Pathologies, Imaging and Biotherapies, Dental School, University Paris Descartes, Montrouge.
Linglart A; APHP, Reference Center for Rare Disorders of the Calcium and Phosphate Metabolism, Filière OSCAR and Plateforme d'Expertise Maladies Rares Paêris-Sud, Bicêtre Paris Sud Hospital, Le Kremlin Bicetre.; APHP, Endocrinology and Diabetes for Children, Bicêtre Paris Sud Hospital, Le Kremlin Bicêtre.; INSERM U1185, Paris Sud Paris-Saclay University, Hôpital Bicêtre Paris Sud, Le Kremlin Bicêtre, France.; Pokaż więcej
Źródło :: European journal of orthodontics [Eur J Orthod] 2020 Nov 03; Vol. 42 (5), pp. 525-533.
Typ publikacji :: Journal Article
MeSH Terms :: Loss of Function Mutation*
Pseudohypoparathyroidism*/genetics
Chromogranins/genetics ; GTP-Binding Protein alpha Subunits, Gs/genetics ; Humans ; Mutation
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 13 13.

Tytuł :: The mutational signature profile of known and suspected human carcinogens in mice.
Autorzy :: Riva L; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Pandiri AR; Cellular and Molecular Pathology Branch, Division of National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Li YR; Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA.
Droop A; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Hewinson J; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Quail MA; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Iyer V; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Shepherd R; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Herbert RA; Cellular and Molecular Pathology Branch, Division of National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Campbell PJ; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
Sills RC; Cellular and Molecular Pathology Branch, Division of National Toxicology Program, National Institute of Environmental Health Sciences, Research Triangle Park, NC, USA.
Alexandrov LB; Department of Cellular and Molecular Medicine and Department of Bioengineering and Moores Cancer Center, University of California, San Diego, La Jolla, CA, USA.
Balmain A; Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA. .
Adams DJ; Wellcome Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK. .; Pokaż więcej
Źródło :: Nature genetics [Nat Genet] 2020 Nov; Vol. 52 (11), pp. 1189-1197. Date of Electronic Publication: 2020 Sep 28.
Typ publikacji :: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Carcinogens/*toxicity
Animals ; Carcinogenesis/genetics ; DNA Mutational Analysis ; Environmental Pollutants/toxicity ; Female ; Genome ; Humans ; Male ; Mice ; Mutation Rate ; Propane/analogs & derivatives ; Propane/toxicity ; Species Specificity
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 14 14.

Tytuł :: Frequent KIT mutations in skin lesions of patients with BRAF wild-type Langerhans cell histiocytosis.
Autorzy :: Tóth B; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária utca, Budapest, H-1085, Hungary. .
Kiss N; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária utca, Budapest, H-1085, Hungary.
Hársing J; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária utca, Budapest, H-1085, Hungary.
Kárpáti S; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, 41 Mária utca, Budapest, H-1085, Hungary.
Csomor J; 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Bödör C; 1st Department of Pathology and Experimental Cancer Research, Semmelweis University, Budapest, Hungary.
Tímár J; 2nd Department of Pathology, Semmelweis University, Budapest, Hungary.
Rásó E; 2nd Department of Pathology, Semmelweis University, Budapest, Hungary.; Pokaż więcej
Źródło :: Virchows Archiv : an international journal of pathology [Virchows Arch] 2020 Nov; Vol. 477 (5), pp. 749-753. Date of Electronic Publication: 2020 May 05.
Typ publikacji :: Journal Article
MeSH Terms :: Mutation*
Histiocytosis, Langerhans-Cell/*genetics
Proto-Oncogene Proteins B-raf/*genetics
Proto-Oncogene Proteins c-kit/*genetics
Skin Diseases/*genetics
Adolescent ; Adult ; Aged ; Female ; GTP Phosphohydrolases/genetics ; Genetic Predisposition to Disease ; Histiocytosis, Langerhans-Cell/pathology ; Histiocytosis, Langerhans-Cell/therapy ; Humans ; Infant ; MAP Kinase Kinase 1/genetics ; Male ; Membrane Proteins/genetics ; Middle Aged ; Mutation Rate ; Phenotype ; Prognosis ; Skin Diseases/pathology ; Skin Diseases/therapy ; Young Adult
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 15 15.

Tytuł :: Impact of Early Pandemic Stage Mutations on Molecular Dynamics of SARS-CoV-2 M .
Autorzy :: Sheik Amamuddy O; Research Unit in Bioinformatics, Department of Microbiology and Biochemistry, Rhodes University, Grahamstown 6140, South Africa.
Verkhivker GM; Graduate Program in Computational and Data Sciences, Schmid College of Science and Technology, Chapman University, Orange, California 92866, United States.; Department of Biomedical and Pharmaceutical Sciences, Chapman University School of Pharmacy, Irvine, California 92618, United States.; Department of Pharmacology, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of California San Diego, 9500 Gilman Drive, La Jolla, California 92093, United States.
Tastan Bishop Ö; Research Unit in Bioinformatics, Department of Microbiology and Biochemistry, Rhodes University, Grahamstown 6140, South Africa.; Pokaż więcej
Źródło :: Journal of chemical information and modeling [J Chem Inf Model] 2020 Oct 26; Vol. 60 (10), pp. 5080-5102. Date of Electronic Publication: 2020 Sep 16.
Typ publikacji :: Journal Article
MeSH Terms :: Point Mutation*
Betacoronavirus/*genetics
Coronavirus Infections/*virology
Cysteine Endopeptidases/*genetics
Pneumonia, Viral/*virology
Viral Nonstructural Proteins/*genetics
Betacoronavirus/chemistry ; Binding Sites ; COVID-19 ; Coronavirus 3C Proteases ; Coronavirus Infections/epidemiology ; Cysteine Endopeptidases/chemistry ; Humans ; Molecular Dynamics Simulation ; Mutation ; Pandemics ; Pneumonia, Viral/epidemiology ; Protein Conformation ; Protein Multimerization ; SARS-CoV-2 ; Viral Nonstructural Proteins/chemistry
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 16 16.

Tytuł :: Higher genome mutation rates of Beijing lineage of Mycobacterium tuberculosis during human infection.
Autorzy :: Hakamata M; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan. .; Department of Respiratory Medicine and Infectious Disease, Niigata Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan. .
Takihara H; Department of Bioinformatics, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Iwamoto T; Department of Infectious Disease, Kobe Institute of Health, 4-6-5, Minatojima-nakamichi, Chuo-ku, Kobe, 650-0046, Japan.
Tamaru A; Department of Infectious Disease, Osaka Prefectural Institute of Public Health, 1-3-69, Nakamichi, Higashinari-ku, Osaka-shi, Osaka, 537-0025, Japan.
Hashimoto A; Clinical and Translation Research Center, Niigata University Medical and Dental Hospital, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Tanaka T; Clinical and Translation Research Center, Niigata University Medical and Dental Hospital, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Kaboso SA; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Gebretsadik G; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Ilinov A; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Yokoyama A; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.; Department of Respiratory Medicine, Graduated School of Medicine, The University of Tokyo, 7-3-1, Hongou, Bunkyo-ku, Tokyo, 113-8655, Japan.
Ozeki Y; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Nishiyama A; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Tateishi Y; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Moro H; Department of Respiratory Medicine and Infectious Disease, Niigata Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Kikuchi T; Department of Respiratory Medicine and Infectious Disease, Niigata Graduate School of Medical and Dental Sciences, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Okuda S; Department of Bioinformatics, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan.
Matsumoto S; Department of Bacteriology, Niigata University School of Medicine, 1-757, Asahimachi-Dori, Chuo-ku, Niigata, Niigata, 951-9510, Japan. .; Laboratory of Tuberculosis, Institute of Tropical Disease, Universitas Airlangga, Kampus C Jl. Mulyorejo, Surabaya, Indonesia. .; Pokaż więcej
Źródło :: Scientific reports [Sci Rep] 2020 Oct 22; Vol. 10 (1), pp. 17997. Date of Electronic Publication: 2020 Oct 22.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Evolution, Molecular*
Genome, Bacterial*
Mutation*
DNA, Bacterial/*genetics
Drug Resistance, Bacterial/*genetics
Mycobacterium tuberculosis/*genetics
Tuberculosis/*microbiology
Beijing ; DNA, Bacterial/analysis ; Humans ; Japan/epidemiology ; Mutation Rate ; Mycobacterium tuberculosis/isolation & purification ; Mycobacterium tuberculosis/pathogenicity ; Tuberculosis/epidemiology ; Tuberculosis/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 17 17.

Tytuł :: Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.
Autorzy :: Crispin A; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Guo C; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Chen C; Division of Hematology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Campagna DR; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Schmidt PJ; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Lichtenstein D; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Cao C; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Sendamarai AK; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Hildick-Smith GJ; Division of Hematology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Huston NC; Division of Hematology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Boudreaux J; Aflac Cancer and Blood Disorders Center, Children's Healthcare of Atlanta and Department of Pediatrics, Emory University, Atlanta, Georgia, USA.
Bottomley SS; Department of Medicine, University of Oklahoma College of Medicine, Oklahoma City, Oklahoma, USA.
Heeney MM; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts, USA.
Paw BH; Division of Hematology, Brigham and Women's Hospital, Boston, Massachusetts, USA.
Fleming MD; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.
Ducamp S; Department of Pathology, Boston Children's Hospital, Boston, Massachusetts, USA.; Pokaż więcej
Źródło :: The Journal of clinical investigation [J Clin Invest] 2020 Oct 01; Vol. 130 (10), pp. 5245-5256.
Typ publikacji :: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Anemia, Sideroblastic/*genetics
Molecular Chaperones/*genetics
Adolescent ; Anemia, Sideroblastic/congenital ; Anemia, Sideroblastic/metabolism ; Animals ; Child ; DNA Mutational Analysis ; Female ; Frameshift Mutation ; Gene Knockdown Techniques ; Humans ; Iron-Sulfur Proteins/deficiency ; Iron-Sulfur Proteins/genetics ; K562 Cells ; Male ; Mice ; Mice, Knockout ; Molecular Chaperones/metabolism ; Pedigree ; Polymorphism, Single Nucleotide ; Promoter Regions, Genetic ; Young Adult ; Zebrafish
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 18 18.

Tytuł :: Genetic Evaluation of Children with Idiopathic Recurrent Acute Pancreatitis.
Autorzy :: Nabi Z; Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India. .
Talukdar R; Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India.
Venkata R; Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India.
Aslam M; Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India.
Shava U; Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India.
Reddy DN; Asian Institute of Gastroenterology, 6-3-661, Hyderabad, 500082, India.; Pokaż więcej
Źródło :: Digestive diseases and sciences [Dig Dis Sci] 2020 Oct; Vol. 65 (10), pp. 3000-3005. Date of Electronic Publication: 2020 Jan 03.
Typ publikacji :: Journal Article
MeSH Terms :: DNA Mutational Analysis*
Genetic Testing*
Mutation*
Polymorphism, Single Nucleotide*
Pancreatitis/*genetics
Acute Disease ; Adolescent ; Age Factors ; Child ; Female ; Genetic Markers ; Genetic Predisposition to Disease ; Humans ; India ; Male ; Mutation Rate ; Pancreatitis/diagnosis ; Phenotype ; Predictive Value of Tests ; Prospective Studies ; Recurrence ; Risk Assessment ; Risk Factors
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 19 19.

Tytuł :: Germline and somatic mtDNA mutation spectrum of rheumatoid arthritis patients in the Taizhou area, China.
Autorzy :: Du J; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Yu S; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Wang D; Department of Clinical Laboratory, Enze Hospital, Taizhou Enze Medical Centre (Group), Luqiao, Taizhou, Zhejiang Province, China.
Chen S; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Chen S; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Zheng Y; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Wang N; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Chen S; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Li J; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.
Shen B; Department of Clinical Laboratory, Taizhou Hospital of Zhejiang Province, Taizhou Enze Medical Centre (Group), Linhai.; Department of Clinical Laboratory, Enze Hospital, Taizhou Enze Medical Centre (Group), Luqiao, Taizhou, Zhejiang Province, China.; Pokaż więcej
Źródło :: Rheumatology (Oxford, England) [Rheumatology (Oxford)] 2020 Oct 01; Vol. 59 (10), pp. 2982-2991.
Typ publikacji :: Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Arthritis, Rheumatoid/*genetics
DNA, Mitochondrial/*genetics
Case-Control Studies ; China ; Female ; Germ-Line Mutation ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Middle Aged ; Mitochondrial Proton-Translocating ATPases/genetics ; Reactive Oxygen Species/metabolism
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 20 20.

Tytuł :: Human NK cell deficiency as a result of biallelic mutations in MCM10.
Autorzy :: Mace EM; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
Paust S; Department of Immunology and Microbiology, Scripps Research Institute, La Jolla, California, USA.
Conte MI; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
Baxley RM; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA.
Schmit MM; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA.
Patil SL; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
Guilz NC; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.
Mukherjee M; Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics.
Pezzi AE; Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics.
Chmielowiec J; Center for Cell and Gene Therapy, and.; Molecular and Cellular Biology Department, Baylor College of Medicine, Houston, Texas, USA.
Tatineni S; Department of Pediatrics.; Department of BioSciences, Rice University, Houston, Texas, USA.
Chinn IK; Department of Pediatrics.; Department of Molecular and Human Genetics and.
Akdemir ZC; Department of Molecular and Human Genetics and.
Jhangiani SN; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Muzny DM; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Stray-Pedersen A; Norwegian National Unit for Newborn Screening, Division of Pediatric and Adolescent Medicine, Oslo, Norway.
Bradley RE; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales.
Moody M; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales.
Connor PP; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales.
Heaps AG; Department of Virology and Immunology, North Cumbria University Hospitals, Carlisle, United Kingdom.
Steward C; Department of Paediatric Haematology, Oncology and Bone Marrow Transplantation, Bristol Royal Hospital for Children, Bristol, United Kingdom.
Banerjee PP; Center for Human Immunobiology, Texas Children's Hospital, Houston, Texas, USA.; Department of Pediatrics.
Gibbs RA; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Borowiak M; Center for Cell and Gene Therapy, and.; Molecular and Cellular Biology Department, Baylor College of Medicine, Houston, Texas, USA.; Adam Mickiewicz University, Poznan, Poland.; McNair Medical Institute, Baylor College of Medicine, Houston, Texas, USA.
Lupski JR; Department of Pediatrics.; Department of Molecular and Human Genetics and.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA.
Jolles S; Immunodeficiency Centre for Wales, University Hospital of Wales, Cardiff, Wales.
Bielinsky AK; Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, Minnesota, USA.
Orange JS; Department of Pediatrics, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, New York, New York, USA.; Pokaż więcej
Źródło :: The Journal of clinical investigation [J Clin Invest] 2020 Oct 01; Vol. 130 (10), pp. 5272-5286.
Typ publikacji :: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :: Mutation*
Killer Cells, Natural/*immunology
Minichromosome Maintenance Proteins/*genetics
Primary Immunodeficiency Diseases/*genetics
Primary Immunodeficiency Diseases/*immunology
Alleles ; Cell Cycle Checkpoints/genetics ; Cell Cycle Checkpoints/immunology ; Cell Differentiation/genetics ; Cell Differentiation/immunology ; Cell Line ; Codon, Nonsense ; DNA Damage/genetics ; DNA Damage/immunology ; Fatal Outcome ; Female ; Gene Knockdown Techniques ; Heterozygote ; Humans ; Induced Pluripotent Stem Cells/immunology ; Induced Pluripotent Stem Cells/metabolism ; Induced Pluripotent Stem Cells/pathology ; Infant ; Killer Cells, Natural/metabolism ; Killer Cells, Natural/pathology ; Male ; Minichromosome Maintenance Proteins/metabolism ; Models, Immunological ; Mutation, Missense ; Pedigree ; Primary Immunodeficiency Diseases/pathology
: Czasopismo naukowe

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