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Tytuł :
ATP7B variant spectrum in a French pediatric Wilson disease cohort.
Autorzy :
Couchonnal E; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany. Electronic address: .
Bouchard S; Claude Bernard Lyon 1 University Lyon, France.
Sandahl TD; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Department of Hepatology and Gastroenterology, Aarhus University Hospital, Aarhus N, Denmark.
Pagan C; Department of Biochemistry and Molecular Biology, LBMMS, Hospices Civils de Lyon, France.
Lion-François L; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
Guillaud O; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
Habes D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Pediatric Hepatology and Liver Transplantation Unit, National Reference Centre for Biliary Atresia and Genetic Cholestasis, FILFOIE, ERN RARE LIVER, Bicêtre Hospital, Assistance Publique - Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
Debray D; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Inserm U1193, Hepatinov, University of Paris Saclay, Orsay, France.
Lamireau T; Children's Hospital, Paediatric Gastroenterology Unit, Bordeaux, France.
Broué P; Children University Hospital, Metabolic Disease Department, Toulouse, France.
Fabre A; APH, Timone Enfant, Service de Pédiatrie Multidisciplinaire, Marseille, France; Aix Marseille Univ, INSERM, MMG, Marseille, France.
Vanlemmens C; University Hospital of Besancon, Paediatric Gastroenterology Unit, Besacon, France.
Sobesky R; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Paul Brousse Hospital, Hepatobiliary Centre, Hepatobiliary Centre, France.
Gottrand F; Univ- Lille, CHU Lille, UMR1286 Department of Pediatric Gastroenterology Hepatology and Nutrition, Lille, France.
Bridoux-Henno L; CHU Rennes, Department of Pediatric Gastroenterology, Rennes, France.
Belmalih A; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany.
Poujois A; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; French National Rare Disease Reference Centre 'Wilson's Disease and Other Copper-related Rare Diseases', Rothschild Foundation Hospital, Neurology Department, Paris, France.
Brunet AS; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France.
Lachaux A; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Claude Bernard Lyon 1 University Lyon, France.
Bost M; Hospices Civils de Lyon. National Center for Wilson's Disease and Department of Pediatric Gastroenterology, Hepatology and Nutrition Children's Hospital of Lyon, France; European Reference Network on Hepatological Diseases (ERN RARE-LIVER), Germany; Department of Biochemistry and Molecular Biology, LBMMS, Hospices Civils de Lyon, France.
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104305. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Journal Article
MeSH Terms :
Phenotype*
Copper-Transporting ATPases/*genetics
Hepatolenticular Degeneration/*genetics
Adolescent ; Ceruloplasmin/analysis ; Child ; Child, Preschool ; Female ; Gene Frequency ; Hepatolenticular Degeneration/blood ; Hepatolenticular Degeneration/pathology ; Humans ; Male ; Mutation
Czasopismo naukowe
Tytuł :
A multistep approach to the genotype-phenotype analysis of Polish patients with tuberous sclerosis complex.
Autorzy :
Bąbol-Pokora K; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Bielska M; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Bobeff K; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Jatczak-Pawlik I; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Borkowska J; Department of Neurology & Epileptology, The Children's Memorial Health Institute, ul. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Kotulska K; Department of Neurology & Epileptology, The Children's Memorial Health Institute, ul. Dzieci Polskich 20, 04-730, Warsaw, Poland.
Jóźwiak S; Department of Child Neurology, Medical University of Warsaw, ul. Zwirki I Wigury 63A, 02-097, Warsaw, Poland.
Młynarski W; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland.
Trelińska J; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, ul. Sporna 36/50, 91-738, Lodz, Poland. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104309. Date of Electronic Publication: 2021 Aug 14.
Typ publikacji :
Journal Article
MeSH Terms :
Genotype*
Phenotype*
Tuberous Sclerosis/*genetics
Adolescent ; Adult ; Brain/pathology ; Child ; Child, Preschool ; Female ; Gene Frequency ; Genetic Testing/statistics & numerical data ; Humans ; Male ; Mutation ; Poland ; Tuberous Sclerosis/pathology
Czasopismo naukowe
Tytuł :
Characterization of the molecular mechanism underlying the dwarfism of dsh mutant watermelon plants.
Autorzy :
Dong W; School of Life Science, Henan University, Kaifeng, Henan, 475004, People's Republic of China.
Wu D; Jiangsu Provincial Key Laboratory of Crop Genetics and Physiology, Yangzhou University, Yangzhou, Jiangsu, 225009, People's Republic of China.
Wang C; School of Life Science, Henan University, Kaifeng, Henan, 475004, People's Republic of China.
Liu Y; School of Life Science, Henan University, Kaifeng, Henan, 475004, People's Republic of China.
Wu D; School of Life Science, Henan University, Kaifeng, Henan, 475004, People's Republic of China. Electronic address: .
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Źródło :
Plant science : an international journal of experimental plant biology [Plant Sci] 2021 Dec; Vol. 313, pp. 111074. Date of Electronic Publication: 2021 Sep 30.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Phenotype*
Citrullus/*genetics
Citrullus/*growth & development
Mutation/*genetics
Plant Stems/*genetics
Plant Stems/*growth & development
China ; Crops, Agricultural/genetics ; Crops, Agricultural/growth & development ; Gene Expression Regulation, Plant ; Genetic Variation ; Genotype
Czasopismo naukowe
Tytuł :
The transcription factor Ndt80 is a repressor of Candida parapsilosis virulence attributes.
Autorzy :
Branco J; Division of Microbiology, Department of Pathology, Faculty of Medicine, University of Porto , Porto, Portugal.; CINTESIS - Center for Health Technology and Services Research, Faculty of Medicine, University of Porto , Porto, Portugal.
Martins-Cruz C; Division of Microbiology, Department of Pathology, Faculty of Medicine, University of Porto , Porto, Portugal.
Rodrigues L; CNC - Centre for Neuroscience and Cell Biology, University of Coimbra , Coimbra, Portugal.; FMUC - Faculty of Medicine, University of Coimbra , Coimbra, Portugal.
Silva RM; Faculdade De Medicina Dentária, CIIS - Centro De Investigação Interdisciplinar Em Saúde, Universidade Católica Portuguesa , Viseu, Portugal.
Araújo-Gomes N; Division of Microbiology, Department of Pathology, Faculty of Medicine, University of Porto , Porto, Portugal.
Gonçalves T; CNC - Centre for Neuroscience and Cell Biology, University of Coimbra , Coimbra, Portugal.; FMUC - Faculty of Medicine, University of Coimbra , Coimbra, Portugal.
Miranda IM; Cardiovascular R&D Centre, Faculty of Medicine, University of Porto , Porto, Portugal.
Rodrigues AG; Division of Microbiology, Department of Pathology, Faculty of Medicine, University of Porto , Porto, Portugal.; CINTESIS - Center for Health Technology and Services Research, Faculty of Medicine, University of Porto , Porto, Portugal.
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Źródło :
Virulence [Virulence] 2021 Dec; Vol. 12 (1), pp. 601-614.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Gene Expression Regulation, Fungal*
Phenotype*
Biofilms/*growth & development
Candida parapsilosis/*genetics
Candida parapsilosis/*pathogenicity
Fungal Proteins/*genetics
Transcription Factors/*genetics
Animals ; Candidiasis/microbiology ; Humans ; Macrophages/microbiology ; Mice ; Phagocytosis ; RAW 264.7 Cells
Czasopismo naukowe
Tytuł :
Genomic and phenotypic analyses of multidrug-resistant Acinetobacter baumannii NCCP 16007 isolated from a patient with a urinary tract infection.
Autorzy :
Kim M; Laboratory of Molecular Environmental Microbiology, Department of Environmental Science and Ecological Engineering, Korea University , Seoul, Republic of Korea.
Park J; Laboratory of Molecular Environmental Microbiology, Department of Environmental Science and Ecological Engineering, Korea University , Seoul, Republic of Korea.
Park W; Laboratory of Molecular Environmental Microbiology, Department of Environmental Science and Ecological Engineering, Korea University , Seoul, Republic of Korea.
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Źródło :
Virulence [Virulence] 2021 Dec; Vol. 12 (1), pp. 150-164.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genome, Bacterial*
Phenotype*
Acinetobacter Infections/*urine
Acinetobacter baumannii/*drug effects
Acinetobacter baumannii/*genetics
Anti-Bacterial Agents/*pharmacology
Drug Resistance, Multiple, Bacterial/*genetics
Urinary Tract Infections/*microbiology
Acinetobacter Infections/microbiology ; Acinetobacter baumannii/classification ; Acinetobacter baumannii/pathogenicity ; Animals ; Bacterial Proteins/genetics ; Biofilms ; Gene Transfer, Horizontal ; Genomics ; Humans ; Larva/microbiology ; Microbial Sensitivity Tests ; Moths/microbiology
Czasopismo naukowe
Tytuł :
The Superior Adherence Phenotype of E. coli O104:H4 is Directly Mediated by the Aggregative Adherence Fimbriae Type I.
Autorzy :
Schiller P; Institute of Hygiene, University of Münster , Münster, Germany.
Knödler M; Institute of Hygiene, University of Münster , Münster, Germany.
Berger P; Institute of Hygiene, University of Münster , Münster, Germany.
Greune L; Institute for Infectiology, University of Münster , Münster, Germany.
Fruth A; Division of Enteropathogenic Bacteria and Legionella, Robert Koch Institute , Wernigerode, Germany.
Mellmann A; Institute of Hygiene, University of Münster , Münster, Germany.
Dersch P; Institute for Infectiology, University of Münster , Münster, Germany.
Berger M; Institute of Hygiene, University of Münster , Münster, Germany.
Dobrindt U; Institute of Hygiene, University of Münster , Münster, Germany.
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Źródło :
Virulence [Virulence] 2021 Dec; Vol. 12 (1), pp. 346-359.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Bacterial Adhesion/*genetics
Escherichia coli O104/*genetics
Escherichia coli O104/*pathogenicity
Fimbriae, Bacterial/*genetics
Fimbriae, Bacterial/*physiology
Biofilms/growth & development ; Escherichia coli Infections ; Escherichia coli O104/classification ; Fimbriae, Bacterial/classification ; Humans ; Multigene Family ; Serogroup ; Virulence/genetics
Czasopismo naukowe
Tytuł :
Proposed therapy, developed in a Pcdh15 -deficient mouse, for progressive loss of vision in human Usher syndrome.
Autorzy :
Sethna S; Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, United States.
Zein WM; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, United States.
Riaz S; Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, United States.; National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Giese AP; Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, United States.
Schultz JM; Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, United States.
Duncan T; Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, United States.
Hufnagel RB; Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, United States.
Brewer CC; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, Bethesda, United States.
Griffith AJ; Otolaryngology Branch, National Institute of Deafness and Other Communication Disorders, Bethesda, United States.
Redmond TM; Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, United States.
Riazuddin S; Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, United States.
Friedman TB; Laboratory of Molecular Genetics, National Institute of Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, United States.
Ahmed ZM; Department of Otorhinolaryngology - Head & Neck Surgery, University of Maryland School of Medicine, Baltimore, United States.; Departments of Ophthalmology and Visual Sciences, University of Maryland School of Medicine, Baltimore, United States.; Departments of Molecular Biology and Biochemistry, University of Maryland School of Medicine, Baltimore, United States.
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Źródło :
ELife [Elife] 2021 Nov 09; Vol. 10. Date of Electronic Publication: 2021 Nov 09.
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 :
Phenotype*
Cadherins/*genetics
Protein Precursors/*genetics
Usher Syndromes/*therapy
Adolescent ; Adult ; Aged ; Animals ; Cadherins/metabolism ; Child ; Humans ; Mice ; Middle Aged ; Mutation ; Photoreceptor Cells/pathology ; Protein Precursors/metabolism ; Young Adult
Czasopismo naukowe
Tytuł :
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Autorzy :
Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Fasano G; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Gredy S; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
Brinkmann J; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
Bonnard AA; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
Gulec EY; Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
Essaddam L; Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia.
Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey.
Guarnetti Prandi I; Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy.
Venditti M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Pantaleoni F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Petrini S; Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy.
Consoli F; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Vignal C; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France.
Hepbasli D; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
Ullrich M; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
de Boer E; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Vissers LELM; Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands.
Gritli S; Department of Immunology, Pasteur Institute of Tunis, 1002 Tunis-Belvédère, Tunisia.
Rossi C; Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
De Luca A; Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Ben Becher S; Department of Pediatrics-PUC, Béchir Hamza Children's Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia.
Gelb BD; Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Lauri A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy.
Chillemi G; Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy; Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale Delle Ricerche, 70126 Bari, Italy.
Schuh K; Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany.
Cavé H; Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France; INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France.
Zenker M; Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany.
Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Nov 04; Vol. 108 (11), pp. 2112-2129. Date of Electronic Publication: 2021 Oct 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Loss of Function Mutation*
Phenotype*
Noonan Syndrome/*genetics
Repressor Proteins/*genetics
Alleles ; Animals ; COS Cells ; Chlorocebus aethiops ; HEK293 Cells ; Humans ; MAP Kinase Signaling System ; Mice ; Mice, Knockout ; Zebrafish
Czasopismo naukowe
Tytuł :
Improved resolution of phenotypic subsets in human T-ALL by incorporation of RNA-seq based developmental profiling.
Autorzy :
Wong R; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Nguyen A; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Wang X; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Chong L; Lymphoid Cancer Research, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Tyshchenko K; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Brown SD; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Holt RA; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Steidl C; Lymphoid Cancer Research, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada.
Weng AP; Terry Fox Laboratory, BC Cancer Agency, Vancouver, BC, V5Z 1L3, Canada. Electronic address: .
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Źródło :
Leukemia research [Leuk Res] 2021 Nov; Vol. 110, pp. 106712. Date of Electronic Publication: 2021 Sep 22.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Phenotype*
Biomarkers, Tumor/*genetics
Gene Expression Profiling/*methods
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*classification
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/*pathology
RNA-Seq/*methods
Sequence Analysis, RNA/*methods
Humans ; Precursor T-Cell Lymphoblastic Leukemia-Lymphoma/genetics ; Single-Cell Analysis/methods
Raport
Tytuł :
Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs.
Autorzy :
Shaffer LG; Paw Print Genetics, Genetic Veterinary Sciences, Inc., 220 E Rowan, suite 220, Spokane, WA, 99207, USA. .; Center for Reproductive Biology, Washington State University, Pullman, WA, USA. .
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Źródło :
Human genetics [Hum Genet] 2021 Nov; Vol. 140 (11), pp. 1501-1503.
Typ publikacji :
Editorial
MeSH Terms :
Aneuploidy*
Disease Models, Animal*
Phenotype*
Cat Diseases/*pathology
Dog Diseases/*pathology
Animals ; Cat Diseases/genetics ; Cats ; Dog Diseases/genetics ; Dogs ; Humans ; Microarray Analysis
Opinia redakcyjna
Tytuł :
DNA Methylome Alterations Are Associated with Airway Macrophage Differentiation and Phenotype during Lung Fibrosis.
Autorzy :
McErlean P; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Bell CG; William Harvey Research Institute, Barts and The London School of Medicine, Queen Mary University of London, London, United Kingdom.
Hewitt RJ; National Heart and Lung Institute, Imperial College London, London, United Kingdom.; National Institute for Health Research Clinical Research Facility, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
Busharat Z; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Ogger PP; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Ghai P; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Albers GJ; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Calamita E; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Kingston S; National Institute for Health Research Clinical Research Facility, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
Molyneaux PL; National Heart and Lung Institute, Imperial College London, London, United Kingdom.; National Institute for Health Research Clinical Research Facility, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.
Beck S; Department of Cancer Biology, University College London Cancer Institute, University College London, London, United Kingdom; and.
Lloyd CM; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
Maher TM; National Heart and Lung Institute, Imperial College London, London, United Kingdom.; National Institute for Health Research Clinical Research Facility, Royal Brompton Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom.; Hastings Centre for Pulmonary Research and.; Division of Pulmonary, Critical Care and Sleep Medicine, Keck School of Medicine, University of Southern California, Los Angeles, California.
Byrne AJ; National Heart and Lung Institute, Imperial College London, London, United Kingdom.
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Źródło :
American journal of respiratory and critical care medicine [Am J Respir Crit Care Med] 2021 Oct 15; Vol. 204 (8), pp. 954-966.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
DNA Methylation*
Epigenesis, Genetic*
Epigenome*
Phenotype*
Cell Differentiation/*genetics
Idiopathic Pulmonary Fibrosis/*genetics
Adult ; Aged ; Aged, 80 and over ; Bronchoalveolar Lavage Fluid/cytology ; Case-Control Studies ; Female ; Gene Expression Profiling ; Genetic Markers ; Humans ; Male ; Middle Aged ; Real-Time Polymerase Chain Reaction
Czasopismo naukowe
Tytuł :
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.
Autorzy :
Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Isikay S; Department of Pediatric Neurology, Faculty of Medicine, University of Gaziantep, Gaziantep 27310, Turkey.
Gezdirici A; Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, Istanbul 34480, Turkey.
Gulec EY; Department of Medical Genetics, Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey.
Punetha J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Herman I; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Akay G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.
Ayaz A; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey; Departments of Medical Genetics, School of Medicine, Istanbul Medipol University, Istanbul 34810, Turkey.
Tos T; University of Health Sciences Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Department of Medical Genetics, Ankara 06080, Turkey.
Yesil G; Istanbul Faculty of Medicine, Department of Medical Genetics, Istanbul University, Istanbul 34093, Turkey.
Aydin H; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Private Reyap Istanbul Hospital, Istanbul 34515, Turkey.
Geckinli B; Centre of Genetics Diagnosis, Zeynep Kamil Maternity and Children's Training and Research Hospital, Istanbul, Turkey; Department of Medical Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey.
Elcioglu N; Department of Pediatric Genetics, School of Medicine, Marmara University, Istanbul 34722, Turkey; Eastern Mediterranean University Medical School, Magosa, Mersin 10, Turkey.
Candan S; Medical Genetics Section, Balikesir Ataturk Public Hospital, Balikesir 10100, Turkey.
Sezer O; Department of Medical Genetics, Samsun Education and Research Hospital, Samsun 55100, Turkey.
Erdem HB; Department of Medical Genetics, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara 06110, Turkey.
Gul D; Department of Medical Genetics, Gulhane Military Medical School, Ankara 06010, Turkey.
Demiral E; Department of Medical Genetics, School of Medicine, University of Inonu, Malatya 44280, Turkey.
Elmas M; Department of Medical Genetics, Afyon Kocatepe University, School of Medicine, Afyon 03218, Turkey.
Yesilbas O; Division of Critical Care Medicine, Department of Pediatrics, School of Medicine, Bezmialem Foundation University, Istanbul 34093, Turkey; Department of Pediatrics, Division of Pediatric Critical Care Medicine, Faculty of Medicine, Karadeniz Technical University, Trabzon, Turkey.
Kilic B; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey.
Gungor S; Department of Pediatrics and Pediatric Neurology, Faculty of Medicine, Inonu University, Malatya 34218, Turkey.
Ceylan AC; Department of Medical Genetics, University of Health Sciences, Ankara Training and Research Hospital, Ankara 06110, Turkey.
Bozdogan S; Department of Medical Genetics, Cukurova University Faculty of Medicine, Adana 01330, Turkey.
Ozalp O; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey.
Cicek S; Department of Medical Genetics, Konya Training and Research Hospital, Konya 42250, Turkey.
Aslan H; Department of Medical Genetics, Adana City Training and Research Hospital, Adana 01170, Turkey.
Yalcintepe S; Department of Medical Genetics, School of Medicine, Trakya University, Edirne 22130, Turkey.
Topcu V; Department of Medical Genetics, Ankara City Hospital, Ankara 06800, Turkey.
Bayram Y; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jolly A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA.
Dawood M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Medical Scientist Training Program, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Doddapaneni H; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Hu J; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Muzny DM; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Akdemir ZC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Karaca E; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA. Electronic address: .
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Corporate Authors :
Baylor-Hopkins Center for Mendelian Genomics
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1981-2005. Date of Electronic Publication: 2021 Sep 28.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Mutation*
Phenotype*
Genomics/*methods
Neurodevelopmental Disorders/*epidemiology
Adolescent ; Adult ; Child ; Child, Preschool ; Cohort Studies ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Neurodevelopmental Disorders/genetics ; Neurodevelopmental Disorders/pathology ; Pedigree ; Prevalence ; Turkey/epidemiology ; Whole Exome Sequencing ; Young Adult
Czasopismo naukowe
Tytuł :
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.
Autorzy :
Mukherjee S; Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA.
Cogan JD; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Newman JH; Pulmonary Hypertension Center, Division of Allergy, Pulmonary, and Critical Care Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Phillips JA 3rd; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Hamid R; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Meiler J; Department of Chemistry, Vanderbilt University, Nashville, TN 37235, USA; Department of Pharmacology, Vanderbilt University, Nashville, TN 37235, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN 37235, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Institute for Drug Discovery, Leipzig University Medical School, Leipzig 04103, Germany; Department of Chemistry, Leipzig University, Leipzig 04109, Germany; Department of Computer Science, Leipzig University, Leipzig 04109, Germany. Electronic address: .
Capra JA; Department of Biological Sciences, Vanderbilt University, Nashville, TN 37235, USA; Center for Structural Biology, Vanderbilt University, Nashville, TN 37235, USA; Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, TN 37232, USA; Bakar Computational Health Sciences Institute and Department of Epidemiology and Biostatistics, University of California, San Francisco, San Francisco, CA 94143, USA. Electronic address: .
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Corporate Authors :
Undiagnosed Diseases Network
Źródło :
American journal of human genetics [Am J Hum Genet] 2021 Oct 07; Vol. 108 (10), pp. 1946-1963. Date of Electronic Publication: 2021 Sep 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Machine Learning*
Multifactorial Inheritance*
Phenotype*
Disease/*genetics
Genomics/*methods
Rare Diseases/*diagnosis
Undiagnosed Diseases/*diagnosis
Databases, Genetic ; Humans ; Rare Diseases/genetics ; Undiagnosed Diseases/genetics
Czasopismo naukowe
Tytuł :
Map-based cloning and promoter variation analysis of the lobed leaf gene BoLMI1a in ornamental kale (Brassica oleracea L. var. acephala).
Autorzy :
Zhang B; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Chen W; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Li X; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Ren W; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Chen L; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Han F; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Fang Z; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Yang L; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Zhuang M; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Lv H; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Wang Y; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China.
Zhang Y; Key Laboratory of Biology and Genetic Improvement of Horticultural Crops, Ministry of Agriculture, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, #12 Zhong Guan Cun Nandajie Street, Beijing, 100081, China. .
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Źródło :
BMC plant biology [BMC Plant Biol] 2021 Oct 06; Vol. 21 (1), pp. 456. Date of Electronic Publication: 2021 Oct 06.
Typ publikacji :
Comparative Study; Journal Article
MeSH Terms :
Cloning, Molecular*
Phenotype*
Promoter Regions, Genetic*
Brassica/*anatomy & histology
Brassica/*genetics
Plant Leaves/*anatomy & histology
Plant Leaves/*genetics
Gene Expression Regulation, Plant ; Genes, Plant ; Genetic Variation ; Genotype
Czasopismo naukowe
Tytuł :
Development and evaluation of a machine learning-based point-of-care screening tool for genetic syndromes in children: a multinational retrospective study.
Autorzy :
Porras AR; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA; Department of Biostatistics & Informatics, Colorado School of Public Health, University of Colorado Anschutz Medical Campus, Aurora, CO, USA. Electronic address: .
Rosenbaum K; Rare Disease Institute, Department of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
Tor-Diez C; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA.
Summar M; Rare Disease Institute, Department of Genetics and Metabolism, Children's National Hospital, Washington, DC, USA.
Linguraru MG; Sheikh Zayed Institute for Pediatric Surgical Innovation, Children's National Hospital, Washington, DC, USA; Departments of Radiology and Pediatrics, School of Medicine, Department of Biomedical Engineering, School of Engineering and Applied Science, George Washington University, Washington, DC, USA. Electronic address: .
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Źródło :
The Lancet. Digital health [Lancet Digit Health] 2021 Oct; Vol. 3 (10), pp. e635-e643. Date of Electronic Publication: 2021 Sep 01.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Machine Learning*
Phenotype*
Photography*
Point-of-Care Systems*
Genetic Diseases, Inborn/*diagnosis
Africa ; Asia ; European Continental Ancestry Group ; Face ; Facial Expression ; Female ; Hispanic Americans ; Humans ; Infant ; Internationality ; Male ; Reproducibility of Results ; Retrospective Studies ; Risk Assessment ; Sensitivity and Specificity
Czasopismo naukowe
Tytuł :
DNA variant classification-reconsidering "allele rarity" and "phenotype" criteria in ACMG/AMP guidelines.
Autorzy :
Davieson CD; National Heart and Lung Institute, Imperial College London, London, UK.
Joyce KE; National Heart and Lung Institute, Imperial College London, London, UK.
Sharma L; National Heart and Lung Institute, Imperial College London, London, UK.
Shovlin CL; National Heart and Lung Institute, Imperial College London, London, UK; Imperial College Healthcare NHS Trust, London, UK. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104312. Date of Electronic Publication: 2021 Aug 16.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Frequency*
Phenotype*
Practice Guidelines as Topic*
Genetic Testing/*standards
Consensus Development Conferences as Topic ; Cystic Fibrosis/diagnosis ; Cystic Fibrosis/genetics ; Genetic Testing/methods ; Humans ; Mutation ; Telangiectasia, Hereditary Hemorrhagic/diagnosis ; Telangiectasia, Hereditary Hemorrhagic/genetics ; von Willebrand Diseases/diagnosis ; von Willebrand Diseases/genetics
Czasopismo naukowe
Tytuł :
The influence of the Or and Carotene Hydroxylase genes on carotenoid accumulation in orange carrots [Daucus carota (L.)].
Autorzy :
Coe KM; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Ellison S; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Senalik D; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.; Vegetable Crop Unit, U.S. Department of Agriculture - ARS, Dept. of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Dawson J; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America.
Simon P; Department of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America. .; Vegetable Crop Unit, U.S. Department of Agriculture - ARS, Dept. of Horticulture, University of WI - Madison, 1575 Linden Dr., Madison, WI, 53706, United States of America. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3351-3362. Date of Electronic Publication: 2021 Jul 19.
Typ publikacji :
Journal Article
MeSH Terms :
Gene Expression Regulation, Plant*
Phenotype*
Carotenoids/*metabolism
Daucus carota/*metabolism
Mixed Function Oxygenases/*metabolism
Plant Proteins/*metabolism
Plant Roots/*metabolism
Daucus carota/genetics ; Daucus carota/growth & development ; Mixed Function Oxygenases/genetics ; Pigmentation ; Plant Proteins/genetics ; Plant Roots/genetics ; Plant Roots/growth & development ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł :
Development of B. carinata with super-high erucic acid content through interspecific hybridization.
Autorzy :
Roslinsky V; Saskatoon Research and Development Centre, Agriculture and Agri-Food Canada, Saskatoon, SK, Canada.
Falk KC; Saskatoon Research and Development Centre, Agriculture and Agri-Food Canada, Saskatoon, SK, Canada.
Gaebelein R; Department of Plant Breeding, IFZ Research Centre for Biosystems, Land Use and Nutrition, Justus Liebig University Giessen, Giessen, Germany.
Mason AS; Department of Plant Breeding, IFZ Research Centre for Biosystems, Land Use and Nutrition, Justus Liebig University Giessen, Giessen, Germany.; Department of Plant Breeding, INRES, University of Bonn, Bonn, Germany.
Eynck C; Saskatoon Research and Development Centre, Agriculture and Agri-Food Canada, Saskatoon, SK, Canada. .
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Źródło :
TAG. Theoretical and applied genetics. Theoretische und angewandte Genetik [Theor Appl Genet] 2021 Oct; Vol. 134 (10), pp. 3167-3181. Date of Electronic Publication: 2021 Jul 16.
Typ publikacji :
Journal Article
MeSH Terms :
Hybridization, Genetic*
Phenotype*
Brassica napus/*metabolism
Chromosomes, Plant/*genetics
Erucic Acids/*metabolism
Mustard Plant/*metabolism
Plant Proteins/*metabolism
Brassica napus/genetics ; Brassica napus/growth & development ; Chromosome Mapping/methods ; Erucic Acids/analysis ; Gene Expression Regulation, Plant ; Genome, Plant ; Mustard Plant/genetics ; Mustard Plant/growth & development ; Plant Proteins/genetics
Czasopismo naukowe
Tytuł :
Extended phenotypes of PIEZO1-related lymphatic dysplasia caused by two novel compound heterozygous variants.
Autorzy :
Lee S; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Park S; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Kim HY; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea.
Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea; Rare Disease Center, Seoul National University Hospital, Seoul, South Korea.
Ko JM; Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children's Hospital, Seoul, South Korea; Rare Disease Center, Seoul National University Hospital, Seoul, South Korea. Electronic address: .
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Źródło :
European journal of medical genetics [Eur J Med Genet] 2021 Oct; Vol. 64 (10), pp. 104295. Date of Electronic Publication: 2021 Aug 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Mutation*
Phenotype*
Craniofacial Abnormalities/*genetics
Fractures, Bone/*genetics
Ion Channels/*genetics
Lymphangiectasis, Intestinal/*genetics
Lymphedema/*genetics
Scoliosis/*genetics
Craniofacial Abnormalities/pathology ; Fractures, Bone/pathology ; Heterozygote ; Humans ; Lymphangiectasis, Intestinal/pathology ; Lymphedema/pathology ; Male ; Scoliosis/pathology ; Young Adult
SCR Disease Name :
Hennekam lymphangiectasia lymphedema syndrome
Czasopismo naukowe

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