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Wyszukujesz frazę ""Genes, Recessive"" wg kryterium: Temat


Tytuł :
Cloning of long sterile lemma (lsl2), a single recessive gene that regulates spike germination in rice (Oryza sativa L.).
Autorzy :
Yang D; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China. .
He N; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China.
Zheng X; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China.
Zhen Y; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China.
Xie Z; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China.
Cheng C; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China.
Huang F; Rice Research Institute, Fujian Academy of Agricultural Sciences, Fujian High Quality Rice Research & Development Center, Fuzhou, 350019, China.
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Źródło :
BMC plant biology [BMC Plant Biol] 2020 Dec 11; Vol. 20 (1), pp. 561. Date of Electronic Publication: 2020 Dec 11.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Plant*
Genes, Recessive*
Flowers/*growth & development
Germination/*genetics
Oryza/*genetics
Cloning, Molecular ; Flowers/genetics ; Oryza/metabolism
Czasopismo naukowe
Tytuł :
Transgenerational inheritance of impaired larval T cell development in zebrafish.
Autorzy :
Iwanami N; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.; Center for Bioscience Research and Education, Utsunomiya University, 350 Mine-machi, Utsunomiya, Tochigi, 321-8505, Japan.
Lawir DF; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.; Institute of Zoology, University of Cologne, Zülpicher Str. 47b, 50674, Köln, Germany.
Sikora K; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.
O Meara C; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.
Takeshita K; RIKEN SPring-8 Center, Sayo, Hyogo, 679-5148, Japan.
Schorpp M; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany.
Boehm T; Department of Developmental Immunology, Max Planck Institute of Immunobiology and Epigenetics, Stuebeweg 51, 79108, Freiburg, Germany. .
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Źródło :
Nature communications [Nat Commun] 2020 Sep 09; Vol. 11 (1), pp. 4505. Date of Electronic Publication: 2020 Sep 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Cell Differentiation/*genetics
Larva/*growth & development
Lymphopoiesis/*genetics
T-Lymphocytes/*physiology
Alleles ; Animals ; Animals, Genetically Modified ; Core Binding Factor Alpha 3 Subunit/genetics ; DNA (Cytosine-5-)-Methyltransferase 1/genetics ; DNA (Cytosine-5-)-Methyltransferase 1/metabolism ; DNA Methylation ; Epigenesis, Genetic ; Female ; Genetics ; Larva/cytology ; Male ; Mutation ; Regulatory-Associated Protein of mTOR/genetics ; Spermatozoa/metabolism ; Zebrafish/genetics ; Zebrafish Proteins/genetics ; Zebrafish Proteins/metabolism
Czasopismo naukowe
Tytuł :
Molecular basis and inheritance patterns of amyloidosis cutis dyschromica.
Autorzy :
Chiu FPC; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Wessagowit V; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
Cakmak MF; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Doolan BJ; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Kootiratrakarn T; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
Chaowalit P; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
Bunnag T; Department of Medical and Molecular Genetics, School of Basic and Medical Biosciences, King's College London, London, UK.
Simpson MA; The Institute of Dermatology, Department of Medical Services, Ministry of Public Health, Thailand.
McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Onoufriadis A; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
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Źródło :
Clinical and experimental dermatology [Clin Exp Dermatol] 2020 Jul; Vol. 45 (5), pp. 650-653. Date of Electronic Publication: 2020 Feb 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Recessive*
Inheritance Patterns*
Amyloidosis, Familial/*genetics
Skin Diseases, Genetic/*genetics
Humans ; Male ; Middle Aged ; Pedigree ; Siblings ; Thailand
SCR Disease Name :
Amyloidosis, Primary Cutaneous
Czasopismo naukowe
Tytuł :
Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre-excitation syndrome.
Autorzy :
Niehues T; Centre for Child and Adolescent Health, HELIOS Klinikum, Krefeld, Germany.
Özgür TT; Centre for Child and Adolescent Health, HELIOS Klinikum, Krefeld, Germany.
Bickes M; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Waldmann R; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
Schöning J; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Bräsen J; Institute for Pathology, Nephropathology Section, Hannover Medical School, Hamburg, Germany.
Hagel C; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Ballmaier M; Central Research Facility Cell Sorting, Hannover Medical School, Hannover, Germany.
Klusmann JH; Pediatric Hematology and Oncology, Martin-Luther-University Halle-Wittenberg, Halle, Germany.; Department of Pediatric Hematology and Oncology, Hannover Medical School, Hannover, Germany.
Niedermayer A; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
Pannicke U; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.
Enders A; Department of Immunology and Infectious Disease, John Curtin School of Medical Research, Canberra, Australian Capital Territory, Australia.; Centre for Personalised Immunology, Australian National University, Canberra, Australian Capital Territory, Australia.
Dückers G; Centre for Child and Adolescent Health, HELIOS Klinikum, Krefeld, Germany.
Siepermann K; Centre for Child and Adolescent Health, HELIOS Klinikum, Krefeld, Germany.
Hempel J; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
Schwarz K; Institute for Transfusion Medicine, University of Ulm, Ulm, Germany.; Institute for Clinical Transfusion Medicine and Immunogenetics Ulm, German Red Cross Blood Service Baden-Wuerttemberg-Hessen, Ulm, Germany.
Viemann D; Department of Pediatric Pneumology, Allergology and Neonatology, Hannover Medical School, Hannover, Germany.
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Źródło :
European journal of immunology [Eur J Immunol] 2020 Jul; Vol. 50 (7), pp. 1078-1080. Date of Electronic Publication: 2020 Apr 20.
Typ publikacji :
Case Reports; Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Cardiomyopathies*/genetics
Cardiomyopathies*/immunology
Cardiomyopathies*/pathology
Carrier Proteins*/genetics
Carrier Proteins*/immunology
Genes, Recessive*
Immunologic Deficiency Syndromes*/genetics
Immunologic Deficiency Syndromes*/immunology
Immunologic Deficiency Syndromes*/pathology
Mutation*
Pre-Excitation Syndromes*/genetics
Pre-Excitation Syndromes*/immunology
Pre-Excitation Syndromes*/pathology
Female ; Humans ; Male
Raport
Tytuł :
Autosomal recessive mutations in plakoglobin and risk of cardiac abnormalities.
Autorzy :
Oktem A; Department of Dermatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Doolan BJ; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Akay BN; Department of Dermatology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Onoufriadis A; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
Okcu Heper A; Department of Pathology, Faculty of Medicine, Ankara University, Ankara, Turkey.
Kocak O; Department of Dermatology, Kutahya Evliya Celebi Education and Research Hospital, Dumlupinar University, Kutahya, Turkey.
Ersoy-Evans S; Department of Dermatology, School of Medicine, Hacettepe University, Ankara, Turkey.
McGrath JA; St John's Institute of Dermatology, School of Basic and Medical Biosciences, King's College London, London, UK.
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Źródło :
Clinical and experimental dermatology [Clin Exp Dermatol] 2020 Jul; Vol. 45 (5), pp. 654-657. Date of Electronic Publication: 2020 Mar 25.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Recessive*
Mutation*
Cardiomyopathies/*genetics
Heart Aneurysm/*genetics
Skin/*pathology
Arrhythmogenic Right Ventricular Dysplasia/genetics ; Child, Preschool ; Consanguinity ; DNA Mutational Analysis ; Female ; Humans ; Male ; gamma Catenin/genetics
Czasopismo naukowe
Tytuł :
A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family.
Autorzy :
Sarmadi A; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.; Genetics Department, Erythron Pathobiology and Genetics lab, Isfahan, Iran.
Nasrniya S; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
Soleimani Farsani M; Department of Biotechnology, Faculty of Advanced Sciences and Technologies, University of Isfahan, Isfahan, Iran.
Narrei S; Genetics Department, Erythron Pathobiology and Genetics lab, Isfahan, Iran.
Nouri Z; Department of Medical Biotechnology, School of Advanced Technologies in Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Sepehrnejad M; Department of Otolaryngology, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Nilforoush MH; Department of Otolaryngology, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Abtahi H; Department of Otolaryngology, Al-Zahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran.
Tabatabaiefar MA; Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran. .; Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan, Iran. .; GenTArget Corp (GTAC), Deputy of Research and Technology, Isfahan University of Medical Sciences, Isfahan, Iran. .
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Źródło :
BMC medical genetics [BMC Med Genet] 2020 Jun 09; Vol. 21 (1), pp. 127. Date of Electronic Publication: 2020 Jun 09.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Hearing Loss, Sensorineural/*genetics
Mutation/*genetics
Proteins/*genetics
Amino Acid Sequence ; Base Sequence ; Child, Preschool ; Family ; Humans ; Iran ; Male ; Models, Molecular ; Proteins/chemistry
Czasopismo naukowe
Tytuł :
Determining the incidence of rare diseases.
Autorzy :
Bainbridge MN; Rady Children's Institute for Genomic Medicine, 1 Children's Way, San Diego, CA, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 May; Vol. 139 (5), pp. 569-574. Date of Electronic Publication: 2020 Feb 13.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Recessive*
Genetic Predisposition to Disease*
Mutation*
Polymorphism, Single Nucleotide*
Rare Diseases/*epidemiology
Rare Diseases/*genetics
Cohort Studies ; Gene Frequency ; Humans ; Incidence ; Models, Genetic ; United States/epidemiology
Czasopismo naukowe
Tytuł :
A novel autosomal recessive DEAF1 nonsense variant: expanding the clinical phenotype.
Autorzy :
Andoni T; North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow.
Ellard S; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter.
Kapadia J; Neonatal Intensive Care Unit, Luton and Dunstable University Hospital, Luton, UK.
Wakeling E; North West Thames Regional Genetic Service, London North West University Healthcare NHS Trust, Harrow.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 114-117.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Codon, Nonsense*
DNA-Binding Proteins*
Genes, Recessive*
Genetic Association Studies*
Genetic Predisposition to Disease*
Phenotype*
Transcription Factors*
Alleles ; Brain/abnormalities ; Brain/diagnostic imaging ; Consanguinity ; DNA Mutational Analysis ; Facies ; Heterozygote ; Humans ; Infant ; Male ; Pakistan ; Pedigree
Czasopismo naukowe
Tytuł :
Recessive mutations in SCYL2 cause a novel syndromic form of arthrogryposis in humans.
Autorzy :
Seidahmed MZ; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Al-Kindi A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman.
Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Miqdad A; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Alabbad N; Department of Obstetrics and Gynaecology, Security Forces Hospital, Riyadh, Saudi Arabia.
Alfifi A; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Abdelbasit OB; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Alhussein K; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Alsamadi A; Deparment of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Futaisi A; Department of Child Health, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman.
Al-Maawali A; Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman. .; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. .
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. .; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. .
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Źródło :
Human genetics [Hum Genet] 2020 Apr; Vol. 139 (4), pp. 513-519. Date of Electronic Publication: 2020 Jan 20.
Typ publikacji :
Case Reports; Clinical Trial; Journal Article; Multicenter Study
MeSH Terms :
Arthrogryposis*/diagnostic imaging
Arthrogryposis*/genetics
Arthrogryposis*/pathology
Genes, Recessive*
Loss of Function Mutation*
Pedigree*
Protein-Serine-Threonine Kinases/*genetics
Adult ; Child, Preschool ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Syndrome
Czasopismo naukowe
Tytuł :
Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa.
Autorzy :
Rehman AU; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.
Peter VG; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.
Quinodoz M; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.
Dawood M; Department of Dermatology, District Headquarter Hospital Khar, District Bajaur, Khyber Pakhtunkhwa, Pakistan.
Rivolta C; Department of Computational Biology, Unit of Medical Genetics, University of Lausanne, Switzerland.; Department of Genetics and Genome Biology, University of Leicester, Leicester, United Kingdom.; Clinical Research Center, Institute of Molecular and Clinical Ophthalmology Basel (IOB).; Department of Ophthalmology, University Hospital Basel, Basel, Switzerland.
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2020 Apr; Vol. 29 (2), pp. 86-89.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Consanguinity*
Genes, Recessive*
Genome, Human*
Mutation*
Whole Exome Sequencing*
Collagen Type VII/*genetics
Epidermolysis Bullosa Dystrophica/*diagnosis
Epidermolysis Bullosa Dystrophica/*genetics
Alleles ; Amino Acid Substitution ; DNA Mutational Analysis ; Exons ; Female ; Gene Frequency ; Genotype ; Humans ; Male ; Pakistan ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Autorzy :
Schottlaender LV; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, WC1N 1EH London, UK; Argentine National Scientific and Technological Research Council (CONICET), C1425FQB Buenos Aires, Argentina; FLENI Neurological Research Institute, C1428 AQK Buenos Aires, Argentina.
Abeti R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Jaunmuktane Z; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Macmillan C; Department of Pediatrics, University of Chicago, Chicago, IL 60637, USA.
Chelban V; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
O'Callaghan B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
McKinley J; Department of Neurology, Dublin Neurological Institute at the Mater Misericordiae University Hospital, 57 Eccles St, Dublin 7 DO7W7XF, Ireland; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Athanasiou-Fragkouli A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Forbes R; Neurology Centre, Southern HSC Trust, Craigavon Area Hospital, Portadown BT63 5QQ, UK.
Soutar MPM; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Livingston JH; Paediatric Neurology, The Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary, Leeds LS1 3EX, UK.
Kalmar B; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Swayne O; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Hotton G; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Pittman A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Mendes de Oliveira JR; Universidade Federal de Pernambuco, Departamento de Neuropsiquiatria, Recife 50670-901, Brazil.
de Grandis M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Richard-Loendt A; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Launchbury F; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London WC1N 3BG, UK.
Althonayan J; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
McDonnell G; Regional Neurosciences Centre, Royal Victoria Hospital, Belfast BT12 6BA, UK.
Carr A; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.
Khan S; CENTOGENE AG, Rostock 18055, Germany.
Beetz C; CENTOGENE AG, Rostock 18055, Germany.
Bisgin A; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Tug Bozdogan S; Medical Genetics Department of Medical Faculty & AGENTEM (Adana Genetic Diseases Diagnosis and Treatment Center), Çukurova University, Adana 01330, Turkey.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Torti E; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Greensmith L; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Giunti P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, WC1N3BG London, UK.
Morrison PJ; Centre for Cancer Research and Cell Biology, Queens University, Belfast BT9 7AE, UK.
Brandner S; Division of Neuropathology, The National Hospital for Neurology and Neurosurgery, University College London Hospitals NHS Foundation Trust, Queen Square, London WC1N 3BG, UK.
Aurrand-Lions M; Aix-Marseille University, Inserm, CNRS, Institut Paoli-Calmettes, CRCM, 13009 Marseille, France.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK; The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK; Neurogenetics Laboratory and Clinical Service, The National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK. Electronic address: .
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Corporate Authors :
SYNAPS Study Group; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, WC1N3BG London, UK.
Źródło :
American journal of human genetics [Am J Hum Genet] 2020 Mar 05; Vol. 106 (3), pp. 412-421.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Age of Onset*
Alleles*
Genes, Recessive*
Brain Diseases/*genetics
Calcinosis/*genetics
Cell Adhesion Molecules/*genetics
Adolescent ; Adult ; Animals ; Brain Diseases/diagnostic imaging ; Calcinosis/diagnostic imaging ; Child ; Female ; Humans ; Male ; Mice ; Middle Aged ; Pedigree
Czasopismo naukowe
Tytuł :
The genetics of situs inversus without primary ciliary dyskinesia.
Autorzy :
Postema MC; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Carrion-Castillo A; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.
Fisher SE; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands.
Vingerhoets G; Department of Experimental Psychology, Ghent University, Ghent, Belgium.
Francks C; Department of Language & Genetics, Max Planck Institute for Psycholinguistics, Nijmegen, The Netherlands. .; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, The Netherlands. .
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Źródło :
Scientific reports [Sci Rep] 2020 Feb 28; Vol. 10 (1), pp. 3677. Date of Electronic Publication: 2020 Feb 28.
Typ publikacji :
Clinical Trial; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Penetrance*
Carrier Proteins/*genetics
Cilia/*genetics
Membrane Proteins/*genetics
Situs Inversus/*genetics
Adolescent ; Adult ; Female ; Humans ; Kartagener Syndrome/genetics ; Male ; Middle Aged
Czasopismo naukowe
Tytuł :
Novel CYP4F22 mutations associated with autosomal recessive congenital ichthyosis (ARCI). Study of the CYP4F22 c.1303C>T founder mutation.
Autorzy :
Esperón-Moldes U; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.; Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía, Obstetricia e Pediatría, Universidade de Santiago de Compostela, Santiago de Compostela, Spain.
Ginarte-Val M; Dermatology Service of Complexo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain.
Rodríguez-Pazos L; Dermatology Service of Complexo Hospitalario Universitario de Vigo, Vigo, Spain.
Fachal L; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
Martín-Santiago A; Dermatology Service of Hospital Universitari Son Espases, Palma de Mallorca, Spain.
Vicente A; Dermatology Service of Hospital Sant Joan de Déu, Barcelona, Spain.
Jiménez-Gallo D; Dermatology Service of Hospital Puerta del Mar, Cádiz, Spain.
Guillén-Navarro E; Dermatology Service of Hospital clínico universitario Virgen de la Arrixaca, Murcia, Spain.
Sampol LM; Genetic Service of Hospital Sant Joan de Déu, Barcelona, Spain.
González-Enseñat MA; Dermatology Service of Hospital Sant Joan de Déu, Barcelona, Spain.
Vega A; Fundación Pública Galega de Medicina Xenómica-SERGAS, Grupo de Medicina Xenómica-USC, CIBERER, IDIS, Santiago de Compostela, Spain.
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Źródło :
PloS one [PLoS One] 2020 Feb 18; Vol. 15 (2), pp. e0229025. Date of Electronic Publication: 2020 Feb 18 (Print Publication: 2020).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Founder Effect*
Genes, Recessive*
Mutation*
Cytochrome P-450 Enzyme System/*genetics
Ichthyosis, Lamellar/*genetics
Alleles ; Amino Acid Substitution ; Child ; Child, Preschool ; Cytochrome P-450 Enzyme System/chemistry ; Female ; Haplotypes ; Humans ; Male ; Middle Aged ; Models, Molecular ; Pedigree ; Phenotype ; Protein Conformation ; Spain ; Structure-Activity Relationship
Czasopismo naukowe
Tytuł :
Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.
Autorzy :
Bai X; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.; Department of Clinical Laboratory, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, China.
Zhang C; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.
Zhang F; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.
Xiao Y; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.
Jin Y; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.
Wang H; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.
Xu L; Otologic Center, Shandong Provincial ENT Hospital Affiliated to Shandong University, Jinan, China.
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Źródło :
BioMed research international [Biomed Res Int] 2020 Feb 18; Vol. 2020, pp. 1685974. Date of Electronic Publication: 2020 Feb 18 (Print Publication: 2020).
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Recessive*
Mutation*
Carrier Proteins/*genetics
Deafness/*genetics
Genetic Predisposition to Disease/*genetics
Adolescent ; Adult ; Asian Continental Ancestry Group/genetics ; Child ; Child, Preschool ; Female ; Genotype ; Hearing Loss/genetics ; Hearing Loss, Sensorineural/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Infant, Newborn ; Male ; Pedigree
SCR Disease Name :
Deafness, Autosomal Recessive 77; Nonsyndromic Deafness
Czasopismo naukowe
Tytuł :
Identification of two recessive etiolation genes (py1, py2) in pakchoi (Brassica rapa L. ssp. chinensis).
Autorzy :
Zhang K; College of Life Sciences, Shanxi Datong University, Datong, 037009, People's Republic of China.
Mu Y; College of Horticulture, Shenyang Agricultural University, Shenyang, 110866, People's Republic of China.
Li W; Institute of Carbon Materials Science, Shanxi Datong University, Datong, 037009, People's Republic of China.
Shan X; College of Life Sciences, Shanxi Datong University, Datong, 037009, People's Republic of China.
Wang N; College of Horticulture, Shenyang Agricultural University, Shenyang, 110866, People's Republic of China.
Feng H; College of Horticulture, Shenyang Agricultural University, Shenyang, 110866, People's Republic of China. .
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Źródło :
BMC plant biology [BMC Plant Biol] 2020 Feb 10; Vol. 20 (1), pp. 68. Date of Electronic Publication: 2020 Feb 10.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Plant*
Genes, Recessive*
Brassica rapa/*genetics
Etiolation/*genetics
Plant Proteins/*genetics
Amino Acid Sequence ; Base Sequence ; Brassica rapa/growth & development ; Chlorophyll/metabolism ; Plant Leaves ; Plant Proteins/chemistry ; Plant Proteins/metabolism ; Sequence Alignment
Czasopismo naukowe
Tytuł :
Processed pseudogene confounding the identification of a putative lethal recessive deletion in the bovine 60S ribosomal protein L11 gene (uL5).
Autorzy :
Zhang X; Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Göttingen, Germany.
Wacker C; Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Göttingen, Germany.
Schütz E; Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Göttingen, Germany.
Brenig B; Institute of Veterinary Medicine, University of Goettingen, Burckhardtweg 2, 37077, Göttingen, Germany.
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Źródło :
Animal genetics [Anim Genet] 2020 Feb; Vol. 51 (1), pp. 146-147. Date of Electronic Publication: 2019 Oct 17.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Lethal*
Genes, Recessive*
Pseudogenes*
Sequence Deletion*
Cattle/*genetics
Ribosomal Proteins/*genetics
Animals ; Base Sequence
Czasopismo naukowe
Tytuł :
HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.
Autorzy :
Shchagina OA; Laboratory of DNA Diagnostics, Laboratory of Molecular Genetic Diagnosis №1 of Research Centre for Medical Genetics, 1 Moskvorechie St., Moscow, Russia, 115522.
Milovidova TB; Laboratory of DNA Diagnostics of Research Centre for Medical Genetics, 1 Moskvorechie St, Moscow, Russia, 115522.
Murtazina AF; Research Centre for Medical Genetics, 1 Moskvorechie St., Moscow, Russia, 115522. .
Rudenskaya GE; Scientific and Medical Department of Research Centre for Medical Genetics, 1 Moskvorechie St., Moscow, Russia, 115522.
Nikitin SS; Association of Neuromuscular Disorders Specialists, Build. 2, 17 Krzhizhanovskogo St., Moscow, Russia, 117258.
Dadali EL; Scientific and Medical Department of Research Centre for Medical Genetics, 1 Moskvorechie St., Moscow, Russia, 115522.
Polyakov AV; Laboratory of DNA Diagnostics of Research Centre for Medical Genetics, 1 Moskvorechie St, Moscow, Russia, 115522.
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Źródło :
Molecular biology reports [Mol Biol Rep] 2020 Feb; Vol. 47 (2), pp. 1331-1337. Date of Electronic Publication: 2019 Dec 17.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Recessive*
Hereditary Sensory and Motor Neuropathy/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Gene Frequency/genetics ; Haplotypes/genetics ; Hereditary Sensory and Motor Neuropathy/epidemiology ; Heterozygote ; Humans ; Linkage Disequilibrium/genetics ; Microsatellite Repeats/genetics ; Russia
Czasopismo naukowe
Tytuł :
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Autorzy :
Hengel H; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Bosso-Lefèvre C; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore.
Grady G; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
Szenker-Ravi E; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.
Li H; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore.
Pierce S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Lebigot É; Service De Biochimie, Hopital Bicêtre, Assistance publique-Hôpitaux de Paris, 78 avenue du general leclerc, Le Kremlin Bicêtre, France.
Tan TT; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
Eio MY; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
Narayanan G; Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis, Singapore, 138648, Singapore.
Utami KH; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
Yau M; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada.
Handal N; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
Deigendesch W; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
Keimer R; Ped Neurology, Staufer Hospital, Wetzgauer Straße 85, Schwäbisch-Gmünd, Germany.
Marzouqa HM; Caritas Baby Hospital Bethlehem, Bethlehem, State of Palestine.
Gunay-Aygun M; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Muriello MJ; McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.
Verhelst H; Department of Paediatric Neurology, Ghent University Hospital, Ghent, Belgium.
Weckhuysen S; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
Mahida S; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Naidu S; Division of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
Thomas TG; Neurology Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.
Lim JY; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
Tan ES; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.
Haye D; Service de Génétique Médicale, CHU De Nice Hôpital de l'Archet 2, 151 route Saint Antoine de la Ginestière, CS 23079 062002, Nice, Cedex 3, France.
Willemsen MAAP; Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
Oegema R; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
Mitchell WG; Neurology Division, Childrens Hospital Los Angeles & Department of Neurology, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90033, USA.
Pierson TM; Department of Pediatrics, Department of Neurology, & the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Andrews MV; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Willing MC; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.
Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80, 3015 CN, Rotterdam, The Netherlands.
Gavrilova RH; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
Martinelli D; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
Gilboa T; Child Neurology Unit, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
Tamim AM; Pediatric Neurology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem MO; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
AlSayed MD; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulrahim MM; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Al-Owain M; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Awaji A; Department of Pediatrics, King Fahad Central Hospital in Jizan, Abu Arish, Saudi Arabia.
Mahmoud AAH; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Faqeih EA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Asmari AA; Section of Medical Genetics, Children's Hospital, King Fahad Medical City, Riyadh, Saudi Arabia.
Algain SM; General Pediatrics and Adolescents, King Fahad Medical City, Riyadh, Saudi Arabia.
Jad LA; Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia.
Aldhalaan HM; Neuroscience Department King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Helbig I; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Koolen DA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Riess A; Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock), Rostock, Germany.
Kraegeloh-Mann I; Department of Pediatric Neurology, University of Tübingen, Tübingen, Germany.
Bauer P; Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock), Rostock, Germany.
Gulsuner S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.
Stamberger H; Center for Molecular Neurology, VIB, Antwerp, Belgium.; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Department of Neurology, University Hospital Antwerp, Antwerp, Belgium.
Ng AYJ; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Tang S; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
Tohari S; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Keren B; APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics, Paris, France.
Schultz-Rogers LE; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
Klee EW; Department of Clinical Genomics, Mayo Clinic, 200 First Street SW, Rochester, MN, USA.
Barresi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15, 00146, Rome, Italy.
Mor-Shaked H; Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center, 9112001, Jerusalem, Israel.
Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Begtrup A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
Telegrafi A; GeneDx, 207 Perry Parkway, Gaithersburg, MD, 20877, USA.
Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.
Schüle R; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.
Ciruna B; Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto, Toronto, ON, Canada.
Bonnard C; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore.
Pouladi MA; Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.; Department of Physiology, National University of Singapore, Singapore, 117597, Singapore.; Department of Medicine, National University of Singapore, Singapore, 117597, Singapore.
Stewart JC; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Claridge-Chang A; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.; Program in Neuroscience and Behavioral Disorders, Duke-NUS Medical School, Singapore, Singapore.
Lefeber DJ; Department of Neurology, Donders Center for Brain, Cognition, and Behavior, Nijmegen, The Netherlands.; Department of Laboratory Medicine, Translational Metabolic Laboratory, Nijmegen, The Netherlands.
Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Mathuru AS; Yale-NUS College, 12 College Avenue West, Biopolis, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Venkatesh B; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore.; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore.
Barycki JJ; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
Simpson MA; Department of Molecular and Structural Biochemistry North Carolina State University, Raleigh, NC, 27607, USA.
Jamuar SS; Genetics Service, Department of Paediatrics, KK Women's and Children's Hospital, Singapore, Singapore.; Paediatric Academic Clinical Programme, Duke-NUS Medical School, Singapore, Singapore.; SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore.; SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore.
Schöls L; Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany. .; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. .
Reversade B; Institute of Medical Biology, A*STAR, Biopolis, Singapore, 138648, Singapore. .; National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis, Singapore, Singapore. .; Institute of Molecular and Cell Biology, A*STAR, Biopolis, Singapore, 138673, Singapore. .; Medical Genetics Department, Koç University School of Medicine, 34010, Istanbul, Turkey. .; Reproductive Biology Laboratory, Obstetrics and Gynaecology, Academic Medical Center (AMC), Meibergdreef 9, 1105 AZ, Amsterdam-Zuidoost, The Netherlands. .
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Źródło :
Nature communications [Nat Commun] 2020 Jan 30; Vol. 11 (1), pp. 595. Date of Electronic Publication: 2020 Jan 30.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Epilepsy/*genetics
Loss of Function Mutation/*genetics
Oxidoreductases/*genetics
Uridine Diphosphate Glucose Dehydrogenase/*genetics
Adolescent ; Alleles ; Animals ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Kinetics ; Male ; Organoids/pathology ; Oxidoreductases/chemistry ; Pedigree ; Protein Domains ; Syndrome ; Zebrafish
Czasopismo naukowe
Tytuł :
Pathogenic Pathways in Early-Onset Autosomal Recessive Parkinson's Disease Discovered Using Isogenic Human Dopaminergic Neurons.
Autorzy :
Ahfeldt T; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address: .
Ordureau A; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Bell C; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Sarrafha L; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Graduate School Department of Cell, Developmental and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Sun C; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Piccinotti S; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Grass T; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA.
Parfitt GM; Nash Family Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Ronald M. Loeb Center for Alzheimer's Disease, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Black Family Stem Cell Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Paulo JA; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Yanagawa F; Nikon Corporation, Shinagawa Intercity Tower C, 2-15-3, Konan, Minato-ku, Tokyo 108-0075, Japan.
Uozumi T; Nikon Corporation, Shinagawa Intercity Tower C, 2-15-3, Konan, Minato-ku, Tokyo 108-0075, Japan.
Kiyota Y; Nikon Corporation, Shinagawa Intercity Tower C, 2-15-3, Konan, Minato-ku, Tokyo 108-0075, Japan.
Harper JW; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
Rubin LL; Department of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA; Harvard Stem Cell Institute, Harvard University, Cambridge, MA 02138, USA. Electronic address: .
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Źródło :
Stem cell reports [Stem Cell Reports] 2020 Jan 14; Vol. 14 (1), pp. 75-90. Date of Electronic Publication: 2020 Jan 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Genetic Association Studies*
Genetic Predisposition to Disease*
Signal Transduction*
Dopaminergic Neurons/*metabolism
Parkinson Disease/*genetics
Parkinson Disease/*metabolism
Cell Line ; Gene Knock-In Techniques ; Humans ; Mitochondria/metabolism ; Mutation ; Parkinson Disease/diagnosis ; Phenotype ; Pluripotent Stem Cells/cytology ; Pluripotent Stem Cells/metabolism ; Proteome ; Proteomics/methods ; Tyrosine 3-Monooxygenase/genetics ; Tyrosine 3-Monooxygenase/metabolism
SCR Disease Name :
Parkinson Disease 7, Autosomal Recessive Early-Onset
Czasopismo naukowe
Tytuł :
Combined anti-inflammatory and low-dose antiproliferative therapy for squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.
Autorzy :
Reimer A; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Lu S; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.; Department of Obstetrics and Gynecology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
He Y; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Bruckner-Tuderman L; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Technau-Hafsi K; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Meiss F; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
Has C; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
von Bubnoff D; Department of Dermatology, Faculty of Medicine, Medical Center - University of Freiburg, Freiburg, Germany.
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Źródło :
Journal of the European Academy of Dermatology and Venereology : JEADV [J Eur Acad Dermatol Venereol] 2020 Jan; Vol. 34 (1), pp. e1-e3. Date of Electronic Publication: 2019 Sep 02.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
Genes, Recessive*
Anti-Inflammatory Agents/*therapeutic use
Antibodies, Monoclonal, Humanized/*therapeutic use
Antineoplastic Agents, Immunological/*therapeutic use
Carcinoma, Squamous Cell/*drug therapy
Celecoxib/*therapeutic use
Cetuximab/*therapeutic use
Epidermolysis Bullosa Dystrophica/*drug therapy
Skin Neoplasms/*drug therapy
Anti-Inflammatory Agents/administration & dosage ; Antibodies, Monoclonal, Humanized/administration & dosage ; Antibodies, Monoclonal, Humanized/pharmacology ; Antineoplastic Agents, Immunological/administration & dosage ; Antineoplastic Agents, Immunological/pharmacology ; Carcinoma, Squamous Cell/complications ; Celecoxib/administration & dosage ; Celecoxib/pharmacology ; Cell Proliferation/drug effects ; Cetuximab/administration & dosage ; Cetuximab/pharmacology ; Dose-Response Relationship, Drug ; Epidermolysis Bullosa Dystrophica/complications ; Epidermolysis Bullosa Dystrophica/genetics ; Female ; Humans ; Middle Aged ; Skin Neoplasms/complications ; Treatment Outcome
Raport

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