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Wyszukujesz frazę ""Genetic Diseases, Inborn"" wg kryterium: Temat


Tytuł :
Identification of differentially expressed long noncoding RNAs and pathways in liver tissues from rats with hepatic fibrosis.
Autorzy :
Wang Y; Department of Traditional Chinese Medicine, The Fifth People's Hospital Affiliated to Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Xiao X; Department of Traditional Chinese Medicine, The Fifth People's Hospital Affiliated to Chengdu University of Traditional Chinese Medicine, Chengdu, China.
Wang X; Department of Liver Disease, Traditional Chinese Medicine Hospital Affiliated to Xinjiang Medical University, Urumqi, China.
Guo F; Department of Liver Disease, Traditional Chinese Medicine Hospital Affiliated to Xinjiang Medical University, Urumqi, China.
Wang X; Department of Liver Disease, Traditional Chinese Medicine Hospital Affiliated to Xinjiang Medical University, Urumqi, China.
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Źródło :
PloS one [PLoS One] 2021 Oct 01; Vol. 16 (10), pp. e0258194. Date of Electronic Publication: 2021 Oct 01 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genetic Diseases, Inborn/*genetics
Liver/*metabolism
Liver Cirrhosis/*genetics
RNA, Long Noncoding/*genetics
Transcriptome/*genetics
Animals ; Carbon Tetrachloride/toxicity ; Gene Regulatory Networks/genetics ; Genetic Diseases, Inborn/chemically induced ; Genetic Diseases, Inborn/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Liver Cirrhosis/chemically induced ; Liver Cirrhosis/pathology ; RNA, Long Noncoding/classification ; RNA, Long Noncoding/isolation & purification ; Rats ; Sequence Analysis, RNA ; Signal Transduction/genetics
SCR Disease Name :
Hepatic Fibrosis, Congenital
Czasopismo naukowe
Tytuł :
Disease-associated mutations in a bifunctional aminoacyl-tRNA synthetase gene elicit the integrated stress response.
Autorzy :
Jin D; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Wek SA; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis Indiana, USA.
Kudlapur NT; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Cantara WA; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Bakhtina M; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA.
Wek RC; Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis Indiana, USA.
Musier-Forsyth K; Department of Chemistry and Biochemistry, Center for RNA Biology, The Ohio State University, Columbus Ohio, USA. Electronic address: .
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Źródło :
The Journal of biological chemistry [J Biol Chem] 2021 Oct; Vol. 297 (4), pp. 101203. Date of Electronic Publication: 2021 Sep 17.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Bone Diseases*/enzymology
Bone Diseases*/genetics
Diabetes Mellitus*/enzymology
Diabetes Mellitus*/genetics
Genetic Diseases, Inborn*/enzymology
Genetic Diseases, Inborn*/genetics
Glutamate-tRNA Ligase*/chemistry
Glutamate-tRNA Ligase*/genetics
Glutamate-tRNA Ligase*/metabolism
Mutation, Missense*
Stress, Physiological/*genetics
Amino Acid Substitution ; HEK293 Cells ; Humans ; Male
Czasopismo naukowe
Tytuł :
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update.
Autorzy :
Rokhsar JL; Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA.
Canino J; Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA.
Raj K; Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA.
Yuhnke S; Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA.
Slutsky J; Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA.
Giger U; Section of Medical Genetics (PennGen Laboratories), School of Veterinary Medicine, University of Pennsylvania, 3900 Delancey St., Philadelphia, PA, 19104-6010, USA. .
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Źródło :
Human genetics [Hum Genet] 2021 Nov; Vol. 140 (11), pp. 1505-1515. Date of Electronic Publication: 2021 Feb 06.
Typ publikacji :
Journal Article
MeSH Terms :
Genetic Predisposition to Disease*
Internet*
Cat Diseases/*genetics
Dog Diseases/*genetics
Genetic Diseases, Inborn/*veterinary
Genetic Testing/*veterinary
Animals ; Cats ; Databases, Factual ; Dogs ; Genetic Diseases, Inborn/genetics
Czasopismo naukowe
Tytuł :
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.
Autorzy :
Luo Y; Vasculitis Translational Research Program, Systemic Autoimmunity Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, Md.
Alexander M; Translational Immunology Section, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, Md.
Gadina M; Office of Science and Technology, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, Md.
O'Shea JJ; Molecular Immunology and Inflammation Branch, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, Md.
Meylan F; Office of Science and Technology, National Institute of Arthritis, Musculoskeletal, and Skin Diseases, National Institutes of Health, Bethesda, Md.
Schwartz DM; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: .
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Źródło :
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2021 Oct; Vol. 148 (4), pp. 911-925.
Typ publikacji :
Journal Article; Research Support, N.I.H., Intramural; Review
MeSH Terms :
Genetic Diseases, Inborn/*drug therapy
Janus Kinase Inhibitors/*therapeutic use
Janus Kinases/*immunology
STAT Transcription Factors/*immunology
Animals ; Cytokines/immunology ; Genetic Diseases, Inborn/immunology ; Humans ; Janus Kinases/genetics ; Mutation ; STAT Transcription Factors/genetics ; Signal Transduction
Czasopismo naukowe
Tytuł :
Inherited thrombocytopenias: an updated guide for clinicians.
Autorzy :
Pecci A; Department of Internal Medicine, IRCCS Policlinico San Matteo Foundation and University of Pavia, Pavia, Italy. Electronic address: .
Balduini CL; Ferrata-Storti Foundation, Pavia, Italy. Electronic address: .
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Źródło :
Blood reviews [Blood Rev] 2021 Jul; Vol. 48, pp. 100784. Date of Electronic Publication: 2020 Dec 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*therapy
Thrombocytopenia/*diagnosis
Thrombocytopenia/*therapy
Alleles ; Clinical Decision-Making ; Disease Management ; Genetic Diseases, Inborn/blood ; Genetic Diseases, Inborn/etiology ; Genetic Predisposition to Disease ; Genotype ; Germ-Line Mutation ; Humans ; Phenotype ; Practice Guidelines as Topic ; Thrombocytopenia/blood ; Thrombocytopenia/etiology
Czasopismo naukowe
Tytuł :
Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.
Autorzy :
Stark Z; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia. Electronic address: .
Foulger RE; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Williams E; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Thompson BA; University of Melbourne, Melbourne, VIC 3010, Australia; Royal Melbourne Hospital, Melbourne, VIC 3050, Australia.
Patel C; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD 4006, Australia.
Lunke S; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Snow C; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Leong IUS; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Puzriakova A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Daugherty LC; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Leigh S; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Boustred C; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Niblock O; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Rueda-Martin A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Gerasimenko O; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Savage K; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Bellamy W; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Lin VSK; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Valls R; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Gordon L; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
Brittain HK; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Thomas ERA; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Guy's and St Thomas's NHS Trust, London SE1 9RS, UK.
Taylor Tavares AL; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
McEntagart M; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; St George's University Hospitals NHS Trust, London SW17 0QT, UK.
White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Tan TY; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Yeung A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia.
Downie L; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Macciocca I; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Savva E; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Lee C; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Roesley A; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
De Fazio P; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Deller J; National Health Service England and National Health Service Improvement, London SE1 6LH, UK.
Deans ZC; National Health Service England and National Health Service Improvement, London SE1 6LH, UK.
Hill SL; National Health Service England and National Health Service Improvement, London SE1 6LH, UK.
Caulfield MJ; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
North KN; Australian Genomics Health Alliance, Melbourne, VIC 3052, Australia; University of Melbourne, Melbourne, VIC 3010, Australia; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Scott RH; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Rendon A; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK.
Hofmann O; Centre for Cancer Research, University of Melbourne, Victorian Comprehensive Cancer Centre, Melbourne, VIC 3000, Australia.
McDonagh EM; Genomics England, Queen Mary University of London, Charterhouse Square, London EC1M 6BQ, UK; Open Targets and European Molecular Biology Laboratory - European Bioinformatics Institute, Wellcome Genome Campus, Hinxton CB10 1SD, UK.
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1551-1557. Date of Electronic Publication: 2021 Jul 29.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Consensus*
Data Curation/*standards
Genetic Diseases, Inborn/*genetics
Genomics/*standards
Molecular Sequence Annotation/*standards
Australia ; Biomarkers/metabolism ; Data Curation/methods ; Delivery of Health Care ; Gene Expression ; Gene Ontology ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/pathology ; Genomics/methods ; Humans ; Mobile Applications/supply & distribution ; Terminology as Topic ; United Kingdom
Czasopismo naukowe
Tytuł :
Interpretable prioritization of splice variants in diagnostic next-generation sequencing.
Autorzy :
Danis D; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Jacobsen JOB; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
Carmody LC; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Gargano MA; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
McMurry JA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Hegde A; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA.
Haendel MA; University of Colorado Anschutz Medical Campus, Aurora, CO, USA.
Valentini G; Anacleto Lab - Dipartimento di Informatica and DSRC, Università degli Studi di Milano, Via Celoria 18, 20133 Milan, Italy; CINI National Laboratory in Artificial Intelligence and Intelligent Systems-AIIS, Rome, Italy.
Smedley D; William Harvey Research Institute, Charterhouse Square, Barts and the London School of Medicine and Dentistry Queen, Queen Mary University of London, EC1M 6BQ London, UK.
Robinson PN; The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, Farmington, CT 06032, USA; Institute for Systems Genomics, University of Connecticut, Farmington, CT 06032, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Sep 02; Vol. 108 (9), pp. 1564-1577. Date of Electronic Publication: 2021 Jul 21.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Algorithms*
RNA Splice Sites*
RNA Splicing*
Software*
Data Curation/*methods
Genetic Diseases, Inborn/*genetics
Base Sequence ; Computational Biology/methods ; Exome ; Exons ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/pathology ; High-Throughput Nucleotide Sequencing ; Humans ; Introns ; Mutation ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Variant haplophasing by long-read sequencing: a new approach to preimplantation genetic testing workups.
Autorzy :
M M YC; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Yu Q; Berry Genomics Corporation, Beijing, People's Republic of China.
Ma M; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Wang H; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Tian S; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Zhang W; Department of Clinical Laboratory, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
M M JZ; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China.
Liu Y; Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, People's Republic of China.
Yang Q; Berry Genomics Corporation, Beijing, People's Republic of China.
Pan X; Berry Genomics Corporation, Beijing, People's Republic of China.
Liang H; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Wang L; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Leigh D; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Cram DS; Berry Genomics Corporation, Beijing, People's Republic of China; Genetics and Precision Medicine Center, First Hospital of Kunming, Calmette Hospital, Kunming, People's Republic of China.
Yao Y; Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China. Electronic address: .
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Sep; Vol. 116 (3), pp. 774-783. Date of Electronic Publication: 2021 May 19.
Typ publikacji :
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Cytogenetic Analysis*
DNA Mutational Analysis*
Fertilization in Vitro*/adverse effects
Preimplantation Diagnosis*
Blastocyst/*pathology
Genetic Diseases, Inborn/*diagnosis
Infertility/*therapy
Chromosome Breakpoints ; Female ; Fertility ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/pathology ; Genetic Markers ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Mutation ; Polymorphism, Single Nucleotide ; Predictive Value of Tests ; Pregnancy ; Prospective Studies ; Risk Assessment ; Risk Factors ; Translocation, Genetic
Czasopismo naukowe
Tytuł :
Modeling genetic platelet disorders with human pluripotent stem cells: mega-progress but wanting more on our plate(let).
Autorzy :
Nations CC; Department of Cell and Molecular Biology, University of Pennsylvania Perelman School of Medicine.; Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia.
Pavani G; Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia.
French DL; Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Gadue P; Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia.; Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
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Źródło :
Current opinion in hematology [Curr Opin Hematol] 2021 Sep 01; Vol. 28 (5), pp. 308-314.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Blood Platelet Disorders*/genetics
Blood Platelet Disorders*/metabolism
Blood Platelet Disorders*/therapy
Cell Differentiation*
Genetic Diseases, Inborn*/genetics
Genetic Diseases, Inborn*/metabolism
Genetic Diseases, Inborn*/therapy
Hematopoiesis*
Models, Genetic*
Pluripotent Stem Cells/*metabolism
Animals ; Blood Platelets/metabolism ; Humans ; Megakaryocytes/metabolism
Czasopismo naukowe
Tytuł :
Genetic diseases mimicking multiple sclerosis.
Autorzy :
Hsu CL; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Iwanowski P; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
Hsu CH; Department of Neurology, China Medical University, Taichung, Taiwan.
Kozubski W; Department of Neurology, Poznan University of Medical Sciences, Poznan, Poland.
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Źródło :
Postgraduate medicine [Postgrad Med] 2021 Sep; Vol. 133 (7), pp. 728-749. Date of Electronic Publication: 2021 Jul 06.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Diseases, Inborn/*diagnosis
Genetic Diseases, Inborn/*pathology
Multiple Sclerosis/*diagnosis
Multiple Sclerosis/*pathology
Nervous System Diseases/*diagnosis
Nervous System Diseases/*pathology
Brain Diseases/diagnosis ; Brain Diseases/pathology ; Cranial Nerve Diseases/diagnosis ; Cranial Nerve Diseases/pathology ; Delayed Diagnosis ; Diagnosis, Differential ; Diagnostic Errors ; Genetic Diseases, Inborn/genetics ; Humans ; Magnetic Resonance Imaging
Czasopismo naukowe
Tytuł :
Whole-exome sequencing increases the diagnostic rate for prenatal fetal structural anomalies.
Autorzy :
Lei L; Chong Qing Health Center for Women and Children, Chongqing, 401120, China. Electronic address: .
Zhou L; Chong Qing Health Center for Women and Children, Chongqing, 401120, China.
Xiong JJ; Chong Qing Health Center for Women and Children, Chongqing, 401120, China.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Sep; Vol. 64 (9), pp. 104288. Date of Electronic Publication: 2021 Jul 09.
Typ publikacji :
Journal Article
MeSH Terms :
Fetus/*abnormalities
Genetic Diseases, Inborn/*diagnosis
Genetic Testing/*standards
Prenatal Diagnosis/*standards
Whole Exome Sequencing/*standards
Female ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/genetics ; Genetic Testing/statistics & numerical data ; Humans ; Pregnancy ; Prenatal Diagnosis/statistics & numerical data ; Whole Exome Sequencing/statistics & numerical data
Czasopismo naukowe
Tytuł :
Small intestinal immunopathology and GI-associated antibody formation in hereditary alpha-tryptasemia.
Autorzy :
Konnikova L; Division of Newborn Medicine, Boston Children's Hospital, Boston, Mass; Department of Pediatrics, Children's Hospital of UPMC, Pittsburgh, Pa; Department of Pediatrics, Yale University School of Medicine, New Haven, Conn.
Robinson TO; Division of Digestive Diseases, Department of Medicine, University of Mississippi Medical Center, Jackson, Miss.
Owings AH; Division of Digestive Diseases, Department of Medicine, University of Mississippi Medical Center, Jackson, Miss.
Shirley JF; Division of Gastroenterology, Department of Medicine, University of Florida, Gainesville, Fla.
Davis E; Division of Gastroenterology, Department of Medicine, University of Arkansas for Medical Sciences, Little Rock, Ark.
Tang Y; Division of Gastroenterology, Department of Medicine, University of Florida, Gainesville, Fla; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, Mass.
Wall S; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, Mass.
Li J; Division of Gastroenterology, Department of Medicine, University of Florida, Gainesville, Fla.
Hasan MH; Division of Digestive Diseases, Department of Medicine, University of Mississippi Medical Center, Jackson, Miss.
Gharaibeh RZ; Division of Gastroenterology, Department of Medicine, University of Florida, Gainesville, Fla.
Mendoza Alvarez LB; Division of Pediatric Gastroenterology, Department of Pediatrics, University of Florida, Gainesville, Fla.
Ryan LK; Division of Infectious Disease, Department of Medicine, University of Florida, Gainesville, Fla.
Doty A; Interdisciplinary Center for Biotechnology Research Cytometry Core, University of Florida, Gainesville, Fla.
Chovanec JF; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
O'Connell MP; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md.
Grunes DE; Department of Pathology, University of Mississippi Medical Center, Jackson, Miss.
Daley WP; Department of Pathology, University of Mississippi Medical Center, Jackson, Miss.
Mayer E; Vatche and Tamar Manoukian Division of Digestive Diseases, Department of Medicine, UCLA, Los Angeles, Calif.
Chang L; Vatche and Tamar Manoukian Division of Digestive Diseases, Department of Medicine, UCLA, Los Angeles, Calif.
Liu J; Morehouse School of Medicine, Atlanta, Ga.
Snapper SB; Division of Gastroenterology, Hepatology, and Nutrition, Boston Children's Hospital, Boston, Mass.
Milner JD; Division of Allergy, Immunology and Rheumatology, Columbia University Medical Center, New York, NY.
Glover SC; Division of Digestive Diseases, Department of Medicine, University of Mississippi Medical Center, Jackson, Miss; Division of Gastroenterology, Department of Medicine, University of Florida, Gainesville, Fla. Electronic address: .
Lyons JJ; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Md. Electronic address: .
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Źródło :
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2021 Sep; Vol. 148 (3), pp. 813-821.e7. Date of Electronic Publication: 2021 Apr 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Gastrointestinal Diseases*/blood
Gastrointestinal Diseases*/genetics
Gastrointestinal Diseases*/immunology
Gastrointestinal Diseases*/pathology
Genetic Diseases, Inborn*/blood
Genetic Diseases, Inborn*/genetics
Genetic Diseases, Inborn*/immunology
Genetic Diseases, Inborn*/pathology
Mastocytosis*/blood
Mastocytosis*/genetics
Mastocytosis*/immunology
Mastocytosis*/pathology
Tryptases*/blood
Tryptases*/genetics
Immunoglobulin G/*immunology
Intestine, Small/*immunology
Adult ; Epithelial Cells/immunology ; Female ; Genotype ; Humans ; Immunoglobulin G/blood ; Intestine, Small/cytology ; Intestine, Small/pathology ; Male ; Mast Cells/immunology ; Middle Aged ; Pyroptosis ; Young Adult
Czasopismo naukowe
Tytuł :
Heterogeneity of congenital afibrinogenemia, from epidemiology to clinical consequences and management.
Autorzy :
Casini A; Division of Angiology and Hemostasis, University Hospitals of Geneva, Geneva, Switzerland; Faculty of Medicine, University of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland. Electronic address: .
Neerman-Arbez M; Department of Genetic Medicine and Development, Faculty of Medicine, University of Geneva, 1 Rue Michel Servet, 1211 Geneva, Switzerland. Electronic address: .
de Moerloose P; Faculty of Medicine, University of Geneva, Rue Gabrielle-Perret-Gentil 4, 1205 Geneva, Switzerland. Electronic address: .
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Źródło :
Blood reviews [Blood Rev] 2021 Jul; Vol. 48, pp. 100793. Date of Electronic Publication: 2020 Dec 26.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Genetic Heterogeneity*
Afibrinogenemia/*epidemiology
Afibrinogenemia/*etiology
Genetic Diseases, Inborn/*epidemiology
Afibrinogenemia/diagnosis ; Afibrinogenemia/therapy ; Animals ; Disease Management ; Disease Susceptibility ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/therapy ; Hemorrhage/diagnosis ; Hemorrhage/epidemiology ; Hemorrhage/etiology ; Hemorrhage/therapy ; Humans ; Public Health Surveillance ; Thrombosis/diagnosis ; Thrombosis/epidemiology ; Thrombosis/etiology
Czasopismo naukowe
Tytuł :
Defining the natural history of rare genetic liver diseases: Lessons learned from the NAPPED initiative.
Autorzy :
van Wessel DBE; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands.
Gonzales E; Pediatric Hepatology & Pediatric Liver Transplant Department, Centre de Référence de L'Atrésie des Voies Biliaires et des Cholestases Génétiques (AVB-CG), Filière de Santé des Maladies Rares Du Foie de L'enfant et de L'adulte (FILFOIE), Assistance Publique-Hôpitaux de Paris, Faculté de Médecine Paris-Saclay, CHU Bicêtre, Le Kremlin-Bicêtre, France.
Hansen BE; Toronto Center for Liver Disease, University Health Network, Canada; IHPME, University of Toronto, Canada.
Verkade HJ; Pediatric Gastroenterology and Hepatology, University Medical Center Groningen, University of Groningen, the Netherlands. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Jul; Vol. 64 (7), pp. 104245. Date of Electronic Publication: 2021 May 13.
Typ publikacji :
Journal Article
MeSH Terms :
Practice Guidelines as Topic*
Cholestasis, Intrahepatic/*genetics
Genetic Diseases, Inborn/*genetics
Rare Diseases/*genetics
Cholestasis, Intrahepatic/diagnosis ; Cholestasis, Intrahepatic/therapy ; Consensus ; Databases, Factual ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/therapy ; Humans ; Rare Diseases/diagnosis ; Rare Diseases/therapy
Czasopismo naukowe
Tytuł :
Utility of clinical exome sequencing in the evaluation of neonates with suspected genetic condition - An observational study from tertiary neonatal care unit in South India.
Autorzy :
Usha Devi R; Department of Neonatology, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India.
Thinesh Kumar J; Department of Neonatology, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India.
Jan SMS; Department of Neonatology, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India.
Chandrasekaran A; Department of Neonatology, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India.
Amboiram P; Department of Neonatology, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India; Sri Ramachandra Center of Excellence in Perinatal Health (SCOPE), Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India. Electronic address: .
Koshy T; Sri Ramachandra Center of Excellence in Perinatal Health (SCOPE), Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India; Department of Human Genetics, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India.
Balakrishnan U; Department of Neonatology, Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India; Sri Ramachandra Center of Excellence in Perinatal Health (SCOPE), Sri Ramachandra Institute of Higher Education & Research, Porur, Chennai, India. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Jul; Vol. 64 (7), pp. 104247. Date of Electronic Publication: 2021 May 14.
Typ publikacji :
Journal Article; Observational Study
MeSH Terms :
Genetic Diseases, Inborn/*diagnosis
Genetic Testing/*statistics & numerical data
Whole Exome Sequencing/*statistics & numerical data
Diagnosis, Differential ; Female ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/genetics ; Genetic Testing/standards ; Humans ; India ; Infant, Newborn ; Male ; Tertiary Care Centers/statistics & numerical data ; Whole Exome Sequencing/standards
Czasopismo naukowe
Tytuł :
Human embryo genetic editing: hope or pipe dream?
Autorzy :
de Melo-Martín I; Division of Medical Ethics, Weill Cornell Medicine, New York, New York; Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, New York, New York.
Rosenwaks Z; Ronald O. Perelman and Claudia Cohen Center for Reproductive Medicine, Weill Cornell Medicine, New York, New York.
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Źródło :
Fertility and sterility [Fertil Steril] 2021 Jul; Vol. 116 (1), pp. 25-26.
Typ publikacji :
Editorial
MeSH Terms :
CRISPR-Cas Systems*
Fertilization in Vitro*
Gene Editing*
Genetic Therapy*
Genetic Diseases, Inborn/*therapy
Infertility/*therapy
Female ; Gene Expression Regulation, Developmental ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Humans ; Infertility/diagnosis ; Infertility/physiopathology ; Male ; Pregnancy
Opinia redakcyjna
Tytuł :
From variant to function in human disease genetics.
Autorzy :
Lappalainen T; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; New York Genome Center, New York, NY, USA.
MacArthur DG; Centre for Population Genomics, Garvan Institute of Medical Research, and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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Źródło :
Science (New York, N.Y.) [Science] 2021 Sep 24; Vol. 373 (6562), pp. 1464-1468. Date of Electronic Publication: 2021 Sep 23.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Review
MeSH Terms :
Genetic Techniques*
Genetic Variation*
Genome, Human*
Genomics*
Disease/*genetics
Genetic Diseases, Inborn/*genetics
Gene Expression Regulation ; Genetic Diseases, Inborn/diagnosis ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Molecular Sequence Annotation ; Multifactorial Inheritance/genetics ; Phenotype ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł :
Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines.
Autorzy :
Kuseyri Hübschmann O; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.
Horvath G; University of British Columbia, Department of Pediatrics, Division of Biochemical Genetics, BC Children's Hospital, Vancouver, BC, Canada.
Cortès-Saladelafont E; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.; Inborn Errors of Metabolism and Child Neurology Unit, Department of Pediatrics, Hospital Germans Trias i Pujol, Badalona and Faculty of Medicine, Universitat Autònoma de Barcelona, Barcelona, Spain.
Yıldız Y; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey.
Mastrangelo M; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.
Pons R; First Department of Pediatrics of the University of Athens, Aghia Sofia Hospital, Athens, Greece.
Friedman J; UCSD Departments of Neuroscience and Pediatrics; Rady Children's Hospital Division of Neurology, Rady Children's Institute for Genomic Medicine, San Diego, CA, USA.
Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children 555 University Avenue Toronto, Toronto, ON, Canada.
Wong SN; Department of Pediatrics and Adolescent Medicine, The Hong Kong Childrenś Hospital, Hong Kong, Hong Kong.
Pearson TS; Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.
Zafeiriou DI; First Department of Pediatrics Aristotle University of Thessaloniki Egnatia St. 106, Thessaloniki, Greece.
Kulhánek J; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Kurian MA; Developmental Neurosciences, UCL Great Ormond Street-Institute of Child Health and Department of Neurology, Great Ormond Street Hospital, London, UK.
López-Laso E; Pediatric Neurology Unit, Department of Pediatrics, University Hospital Reina Sofía, IMIBIC and CIBERER, Córdoba, Spain.
Oppebøen M; Childrenś Department Division of Child Neurology Oslo University Hospital Rikshospitalet Pb 4956 Nydalen, Oslo, Norway.
Kılavuz S; Çukurova University, Faculty of Medicine, Department of Pediatrics, Division of Pediatric Metabolism and Nutrition, Adana, Turkey.
Wassenberg T; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands.; Department of Pediatrics, Pediatric Neurology Unit, UZ Brussel VUB, Brussels, Belgium.
Goez H; Department of Pediatrics, University of Alberta Glenrose Rehabilitation Hospital, Edmonton, AB, Canada.
Scholl-Bürgi S; Clinic for Pediatrics I, Medical University of Innsbruck, Innsbruck, Austria.
Porta F; Department of Pediatrics, AOU Città della Salute e della Scienza, Torino, Italy.
Honzík T; Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Prague, Czech Republic.
Santer R; Children's Hospital, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Burlina A; U.O.C. Malattie Metaboliche Ereditarie, Dipartimento della Salute della Donna e del Bambino, Azienda Ospedaliera Universitaria di Padova - Campus Biomedico Pietro d'Abano, Padova, Italy.
Sivri HS; Hacettepe University, Faculty of Medicine, Department of Pediatrics, Section of Metabolism, Ankara, Turkey.
Leuzzi V; Department of Human Neuroscience, Unit of Child Neurology and Psychiatry, Università degli Studi di Roma La Sapienza, Rome, Italy.
Hoffmann GF; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.
Jeltsch K; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany.
Hübschmann D; German Cancer Consortium (DKTK), Heidelberg, Germany.; Computational Oncology, Molecular Diagnostics Program, National Center for Tumor Diseases, DKFZ, Heidelberg, Germany.; Heidelberg Institute for Stem cell Technology and Experimental Medicine (HI-STEM), Heidelberg, Germany.; Department of Pediatric Immunology, Hematology and Oncology, Heidelberg University Hospital, Heidelberg, Germany.
Garbade SF; University Children's Hospital Heidelberg, Dietmar-Hopp Metabolic Center, Heidelberg, Germany.
García-Cazorla A; Inborn errors of metabolism Unit, Department of Neurology, Institut de Recerca Sant Joan de Déu and CIBERER-ISCIII, Barcelona, Spain.
Opladen T; University Children's Hospital Heidelberg, Division of Child Neurology and Metabolic Disorders, Heidelberg, Germany. .
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Corporate Authors :
iNTD Registry Study Group
Źródło :
Nature communications [Nat Commun] 2021 Sep 20; Vol. 12 (1), pp. 5529. Date of Electronic Publication: 2021 Sep 20.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Biogenic Amines/*metabolism
Genetic Diseases, Inborn/*pathology
Child, Preschool ; Delivery, Obstetric ; Female ; Genetic Diseases, Inborn/diagnosis ; Humans ; Infant ; Infant, Newborn ; Phenotype ; Pregnancy
Czasopismo naukowe
Tytuł :
Clinical trials for genetic diseases in Latin America.
Autorzy :
Poswar FO; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
da Silva LP; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Zambrano MB; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Pedrini DB; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.
Saute JAM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Department of Internal Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Giugliani R; Clinical Research Group in Medical Genetics, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
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Źródło :
American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2021 Sep; Vol. 187 (3), pp. 381-387. Date of Electronic Publication: 2021 Sep 03.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Genetic Diseases, Inborn*
Clinical Trials as Topic ; Humans ; Latin America
Czasopismo naukowe
Tytuł :
Gap Junction Channelopathies and Calmodulinopathies. Do Disease-Causing Calmodulin Mutants Affect Direct Cell-Cell Communication?
Autorzy :
Peracchia C; Department of Pharmacology and Physiology, School of Medicine and Dentistry, University of Rochester, Rochester, NY 14642-8711, USA.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 25; Vol. 22 (17). Date of Electronic Publication: 2021 Aug 25.
Typ publikacji :
Journal Article; Review
MeSH Terms :
Calmodulin/*genetics
Channelopathies/*genetics
Connexins/*genetics
Genetic Diseases, Inborn/*genetics
Animals ; Calmodulin/metabolism ; Cell Communication ; Channelopathies/metabolism ; Connexins/metabolism ; Genetic Diseases, Inborn/metabolism ; Humans ; Mutation
Czasopismo naukowe

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