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Wyszukujesz frazę ""Genetic Association Studies"" wg kryterium: Temat


Tytuł:
Transcriptional linkage analysis with in vivo AAV-Perturb-seq.
Autorzy:
Santinha AJ; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.
Klingler E; Department of Basic Neurosciences, University of Geneva, Geneva, Switzerland.; VIB-KU Leuven Center for Brain & Disease Research, KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.
Kuhn M; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.; Pharma Research and Early Development (pRED), Roche, Basel, Switzerland.
Farouni R; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.
Lagler S; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.
Kalamakis G; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.; Novartis Institutes for BioMedical Research, Basel, Switzerland.
Lischetti U; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland.; Department of Biomedicine, University Hospital Basel and University of Basel, Basel, Switzerland.
Jabaudon D; Department of Basic Neurosciences, University of Geneva, Geneva, Switzerland.
Platt RJ; Department of Biosystems Science and Engineering, ETH Zurich, Basel, Switzerland. .; Botnar Research Center for Child Health, Basel, Switzerland. .; Department of Chemistry, University of Basel, Basel, Switzerland. .; NCCR Molecular Systems Engineering, Basel, Switzerland. .
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Źródło:
Nature [Nature] 2023 Oct; Vol. 622 (7982), pp. 367-375. Date of Electronic Publication: 2023 Sep 20.
Typ publikacji:
Journal Article
MeSH Terms:
Dependovirus*/genetics
Gene Editing*
Genetic Association Studies*/methods
Transcription, Genetic*/genetics
Single-Cell Analysis*/methods
CRISPR-Cas Systems*/genetics
Animals ; Humans ; Mice ; Neurons/metabolism ; Phenotype ; Prefrontal Cortex/metabolism ; DiGeorge Syndrome/drug therapy ; DiGeorge Syndrome/genetics ; Disease Models, Animal ; RNA Processing, Post-Transcriptional ; Synapses/pathology ; Genetic Predisposition to Disease
Czasopismo naukowe
Tytuł:
Rare variant associations with plasma protein levels in the UK Biobank.
Autorzy:
Dhindsa RS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, MD, US. .
Burren OS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Sun BB; Translational Sciences, Research & Development, Biogen Inc., Cambridge, MA, US.
Prins BP; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Matelska D; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Wheeler E; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Mitchell J; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Oerton E; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Hristova VA; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, MD, US.
Smith KR; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Carss K; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Wasilewski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Harper AR; Clinical Development, Research and Early Development, Respiratory and Immunology (R&I), BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Paul DS; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Fabre MA; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Runz H; Translational Sciences, Research & Development, Biogen Inc., Cambridge, MA, US.
Viollet C; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Challis B; Translational Science and Experimental Medicine, Research and Early Development, Cardiovascular, Renal and Metabolism, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Platt A; Translational Science and Experimental Medicine, Research and Early Development, Respiratory and Immunology, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Vitsios D; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Ashley EA; Division of Cardiology, Department of Medicine, Stanford University, Palo Alto, CA, USA.
Whelan CD; Translational Sciences, Research & Development, Biogen Inc., Cambridge, MA, US.
Pangalos MN; BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK.
Wang Q; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Gaithersburg, MD, US.
Petrovski S; Centre for Genomics Research, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Cambridge, UK. .; Department of Medicine, Austin Health, University of Melbourne, Melbourne, Victoria, Australia. .
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Corporate Authors:
AstraZeneca Genomics Initiative
Źródło:
Nature [Nature] 2023 Oct; Vol. 622 (7982), pp. 339-347. Date of Electronic Publication: 2023 Oct 04.
Typ publikacji:
Journal Article
MeSH Terms:
Biological Specimen Banks*
Blood Proteins*/analysis
Blood Proteins*/genetics
Genetic Association Studies*
Genomics*
Proteomics*
Humans ; Alleles ; Biomarkers/blood ; Databases, Factual ; Exome/genetics ; Hematopoiesis ; Mutation ; Plasma/chemistry ; United Kingdom
Czasopismo naukowe
Tytuł:
Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.
Autorzy:
Ng R; Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, MD, 21231, USA. .; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .
O'Connor J; Department of Neuropsychology, Kennedy Krieger Institute, 1750 E. Fairmount Ave, Baltimore, MD, 21231, USA.; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Summa D; Cornelia de Lange Syndrome Foundation, Avon, CT, USA.
Kline AD; Harvey Institute for Human Genetics, Department of Pediatrics, Greater Baltimore Medical Center, Baltimore, MD, USA.
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Mar 10; Vol. 19 (1), pp. 111. Date of Electronic Publication: 2024 Mar 10.
Typ publikacji:
Journal Article
MeSH Terms:
Cell Cycle Proteins*/genetics
De Lange Syndrome*/genetics
Child ; Adult ; Humans ; Young Adult ; Chromosomal Proteins, Non-Histone/genetics ; Phenotype ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlations in multiple lesions of familial cerebral cavernous malformations concerning phosphatidylinositol 3-kinase catalytic subunit alpha mutations.
Autorzy:
Wang J; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Tang J; SIAT-HKUST Joint Laboratory of Cell Evolution and Digital Health, Shenzhen-Hong Kong Collaborative Innovation Research Institute, Shenzhen, China.; Division of Life Science, Department of Chemical and Biological Engineering, and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Kowloon, China.
Yang Y; Division of Life Science, Department of Chemical and Biological Engineering, and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Kowloon, China.
Jiao Y; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Huo R; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Xu H; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Zhao S; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Sun Y; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
He Q; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Yu Q; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Wang S; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Zhao J; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.
Wang J; SIAT-HKUST Joint Laboratory of Cell Evolution and Digital Health, Shenzhen-Hong Kong Collaborative Innovation Research Institute, Shenzhen, China.; Division of Life Science, Department of Chemical and Biological Engineering, and State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Kowloon, China.; Hong Kong Center for Neurodegenerative Diseases, Hong Kong SAR, China.
Cao Y; Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing, China.; China National Clinical Research Center for Neurological Diseases, Beijing, China.; Beijing Neurosurgical Institute, Capital Medical University, Beijing, China.
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Źródło:
Clinical and translational medicine [Clin Transl Med] 2024 Mar; Vol. 14 (3), pp. e1610.
Typ publikacji:
Letter
MeSH Terms:
Phosphatidylinositol 3-Kinases*/genetics
Hemangioma, Cavernous, Central Nervous System*
Catalytic Domain ; Genetic Association Studies ; Mutation/genetics
SCR Disease Name:
Familial cerebral cavernous malformation
Opinia redakcyjna
Tytuł:
Unearthing the genotype-inhibitor phenotype association in severe haemophilia A: A north Indian cohort study.
Autorzy:
Ray D; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Sharma R; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kumar N; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Hans C; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Senee H; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Jamwal M; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Ahluwalia J; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Das R; Department of Hematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Bansal D; Department of Hematology, Paediatrics, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Jain A; Department of Hematology, Clinical Hematology and Medical Oncology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
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Źródło:
Haemophilia : the official journal of the World Federation of Hemophilia [Haemophilia] 2024 Mar; Vol. 30 (2), pp. 410-418. Date of Electronic Publication: 2024 Feb 11.
Typ publikacji:
Journal Article
MeSH Terms:
Hemophilia A*/genetics
Humans ; Cohort Studies ; Factor VIII/genetics ; Genetic Association Studies ; Introns ; Chromosome Inversion ; Genotype ; Phenotype ; Mutation
Czasopismo naukowe
Tytuł:
Gene-based association study of rare variants in children of diverse ancestries implicates TNFRSF21 in the development of allergic asthma.
Autorzy:
Clay S; Department of Human Genetics, University of Chicago, Chicago, Ill. Electronic address: .
Alladina J; Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Mass; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital and Harvard Medical School, Boston, Mass.
Smith NP; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital and Harvard Medical School, Boston, Mass; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Mass; Massachusetts General Hospital Cancer Center, Boston, Mass.
Visness CM; Rho, Inc, Durham, NC.
Wood RA; Pediatric Allergy and Immunology Department, Johns Hopkins Bloomberg School of Public Health, Baltimore, Md.
O'Connor GT; Department of Pediatrics, Boston University School of Medicine, Boston, Mass.
Cohen RT; Department of Pediatrics, Boston University School of Medicine, Boston, Mass.
Khurana Hershey GK; Division of Asthma Research, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Kercsmar CM; Division of Pulmonary Medicine, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
Gruchalla RS; Internal Medicine and Pediatrics, University of Texas Southwestern Medical Center, Dallas, Tex.
Gill MA; Pediatric Infectious Diseases, St. Louis Children's Hospital, St Louis, Mo.
Liu AH; Breathing Institute, Children's Hospital Colorado, Aurora, Colo.
Kim H; Allergy and Immunology, Henry Ford Health, Detroit, Mich.
Kattan M; Department of Pediatrics, Columbia University Medical Center, New York, NY.
Bacharier LB; Department of Pediatrics, Monroe Carell Jr Children's Hospital at Vanderbilt University Medical Center, Nashville, Tenn.
Rastogi D; Division of Pulmonology and Sleep Medicine, Children's National Hospital, Washington, DC.
Rivera-Spoljaric K; Department of Pediatric Allergy, Immunology, and Pulmonary Medicine, Washington University School of Medicine, St Louis, Mo.
Robison RG; Department of Pediatrics, Monroe Carell Jr Children's Hospital at Vanderbilt University Medical Center, Nashville, Tenn; Ann & Robert H. Lurie Children's Hospital, Chicago, Ill.
Gergen PJ; National Institute of Allergy and Infectious Diseases, Rockville, Md.
Busse WW; Department of Medicine, University of Wisconsin School of Medicine and Public Health, Madison, Wis.
Villani AC; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital and Harvard Medical School, Boston, Mass; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, Mass; Massachusetts General Hospital Cancer Center, Boston, Mass.
Cho JL; Division of Pulmonary, Critical Care and Occupational Medicine, University of Iowa Carver College of Medicine, Iowa City, Iowa.
Medoff BD; Division of Pulmonary and Critical Care Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, Mass; Center for Immunology and Inflammatory Diseases, Massachusetts General Hospital and Harvard Medical School, Boston, Mass.
Gern JE; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis.
Jackson DJ; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, Wis.
Ober C; Department of Human Genetics, University of Chicago, Chicago, Ill.
Dapas M; Department of Human Genetics, University of Chicago, Chicago, Ill.
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Źródło:
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2024 Mar; Vol. 153 (3), pp. 809-820. Date of Electronic Publication: 2023 Nov 07.
Typ publikacji:
Journal Article
MeSH Terms:
Asthma*/genetics
Hypersensitivity*/genetics
Adult ; Child ; Humans ; Animals ; Mice ; Genetic Association Studies ; Phenotype ; Allergens ; Polymorphism, Single Nucleotide ; Genome-Wide Association Study ; Receptors, Tumor Necrosis Factor
Czasopismo naukowe
Tytuł:
The prognostic value of systematic genetic screening in amyotrophic lateral sclerosis patients.
Autorzy:
He D; Department of Neurology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Dongcheng District, Beijing, China.
Liu Y; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
Dong S; Department of Neurology, Huashan Hospital and Institute of Neurology, National Center for Neurological Disorders, Fudan University, Shanghai, China.
Shen D; Department of Neurology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Dongcheng District, Beijing, China.
Yang X; Department of Neurology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Dongcheng District, Beijing, China.
Hao M; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
Yin X; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
He X; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
Li Y; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
Wang Y; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China.
Liu M; Department of Neurology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Dongcheng District, Beijing, China.
Wang J; State Key Laboratory of Genetic Engineering, Collaborative Innovation Center for Genetics and Development, School of Life Sciences and Human Phenome Institute, Fudan University, Shanghai, China. .; Research Unit of Dissecting the Population Genetics and Developing New Technologies for Treatment and Prevention of Skin Phenotypes and Dermatological Diseases (2019RU058), Chinese Academy of Medical Sciences, Beijing, China. .
Chen X; Department of Neurology, Huashan Hospital and Institute of Neurology, National Center for Neurological Disorders, Fudan University, Shanghai, China. .; Research Unit of Dissecting the Population Genetics and Developing New Technologies for Treatment and Prevention of Skin Phenotypes and Dermatological Diseases (2019RU058), Chinese Academy of Medical Sciences, Beijing, China. .
Cui L; Department of Neurology, Peking Union Medical College Hospital (PUMCH), Chinese Academy of Medical Sciences and Peking Union Medical College (CAMS & PUMC), Dongcheng District, Beijing, China. .
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Źródło:
Journal of neurology [J Neurol] 2024 Mar; Vol. 271 (3), pp. 1385-1396. Date of Electronic Publication: 2023 Nov 19.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/diagnosis
Amyotrophic Lateral Sclerosis*/genetics
Neurodegenerative Diseases*/genetics
Humans ; Prognosis ; Genetic Association Studies ; Genetic Testing
Czasopismo naukowe
Tytuł:
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Autorzy:
Beryozkin A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.; Department of Ophthalmology, University of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Sher I; Goldschleger Eye Institute, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Ehrenberg M; Ophthalmology Unit, Schneider Children's Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Zur D; Ophthalmology Division, Tel Aviv Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Newman H; Ophthalmology Division, Tel Aviv Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Gradstein L; Department of Ophthalmology, Soroka Medical Center and Clalit Health Services, Faculty of Health Sciences, Ben-Gurion University, Be'er Sheva, Israel.
Simaan F; Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.
Rotenstreich Y; Goldschleger Eye Institute, Sheba Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Goldenberg-Cohen N; Department of Ophthalmology, Bnai Zion Medical Center, Haifa, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Bahar I; Ophthalmology Division, Tel Aviv Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Ophthalmology Department and Laboratory of Eye Research, Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
Blumenfeld A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Rivera A; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Rosin B; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Deitch-Harel I; Ophthalmology Department and Laboratory of Eye Research, Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
Perlman I; Ophthalmology Division, Tel Aviv Medical Center, Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Mechoulam H; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Chowers I; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Leibu R; Department of Ophthalmology, Rambam Health Care Center, Haifa, Israel.
Ben-Yosef T; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel.
Pras E; Department of Ophthalmology, Assaf Harofeh Medical Center, Zerifin, Israel.; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.
Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
Khateb S; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.
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Źródło:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Feb 01; Vol. 65 (2), pp. 39.
Typ publikacji:
Journal Article
MeSH Terms:
Vitelliform Macular Dystrophy*
Humans ; Israel/epidemiology ; Prevalence ; Mutation ; Genetic Association Studies ; Bestrophins
Czasopismo naukowe
Tytuł:
Whole exome sequencing approach for identification of the molecular etiology in pediatric patients with hematuria.
Autorzy:
Wu J; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin 300134, China.
Cui Y; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin 300134, China.
Liu T; The department of nephrology, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin 300134, China.
Gu C; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin 300134, China.
Ma X; Basic Medical College, Tianjin Medical University, Tianjin 30070, China.
Yu C; Tianjin KingMed Center for Clinical Laboratory Co. Ltd., Tianjin 300392, China.
Cai Y; Department of Medicine,Tianjin University, Tianjin 300110, China.
Shu J; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin 300134, China. Electronic address: .
Wang W; The department of nephrology, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin 300134, China. Electronic address: .
Cai C; Tianjin Pediatric Research Institute, Tianjin Children's Hospital (Children's Hospital of Tianjin University), Tianjin Key Laboratory of Birth Defects for Prevention and Treatment, Tianjin 300134, China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Feb 01; Vol. 554, pp. 117795. Date of Electronic Publication: 2024 Jan 21.
Typ publikacji:
Journal Article
MeSH Terms:
Hematuria*/diagnosis
Hematuria*/genetics
Kidney Diseases*
Child ; Humans ; Exome Sequencing ; Genomics ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
The Huntington's Disease Gene Discovery.
Autorzy:
Franklin GL; Internal Medicine Department, Pontifical University Catholic of Parana, Medical School, Curitiba, Brazil.
Teive HAG; Movement Disorders Unit, Neurology Service, Internal Medicine Department, HC, Federal University of Paraná, Curitiba, Brazil.
Tensini FS; Movement Disorders Unit, Neurology Service, Internal Medicine Department, HC, Federal University of Paraná, Curitiba, Brazil.
Camargo CHF; Movement Disorders Unit, Neurology Service, Internal Medicine Department, HC, Federal University of Paraná, Curitiba, Brazil.
de Lima NSC; School of Medicine, Vila Velha University, Vila Velha, Brazil.
de Dos Santos DC; São Paulo University, São Paulo, Brazil.
Meira AT; Internal Medicine Department, Federal University of Paraíba, João Pessoa, Brazil.
Tabrizi SJ; UCL Huntington's Disease Centre, Department of Neurodegenerative Diseases, UCL Queen Square Institute of Neurology, UK Dementia Research Institute, University College London, London, UK.
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Źródło:
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2024 Feb; Vol. 39 (2), pp. 227-234. Date of Electronic Publication: 2024 Jan 05.
Typ publikacji:
Journal Article
MeSH Terms:
Huntington Disease*/genetics
Huntington Disease*/therapy
Movement Disorders*
Humans ; Mutation ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
DYNATE: Localizing rare-variant association regions via multiple testing embedded in an aggregation tree.
Autorzy:
Li X; Novartis Pharmaceuticals Corporation, Basel, Switzerland.
Pura J; AstraZeneca, Cambridge, UK.
Allen A; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.
Owzar K; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.
Lu J; Department of Mathematics, Duke University, Durham, North Carolina, USA.
Harms M; Department of Neurology, Columbia University, Broadway, New York, USA.
Xie J; Department of Biostatistics and Bioinformatics, Duke University, Durham, North Carolina, USA.; Department of Mathematics, Duke University, Durham, North Carolina, USA.
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Źródło:
Genetic epidemiology [Genet Epidemiol] 2024 Feb; Vol. 48 (1), pp. 42-55. Date of Electronic Publication: 2023 Nov 28.
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Variation*
Trees*
Humans ; Models, Genetic ; Genetic Association Studies ; Mutation ; Genome-Wide Association Study/methods ; Autophagy-Related Proteins ; Vesicular Transport Proteins
Czasopismo naukowe
Tytuł:
Prenatal diagnosis of polycystic kidney caused by biallelic hypomorphic variants in the PKD1 gene.
Autorzy:
Zheng Y; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Wong L; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Kwan AHW; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Dong Z; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Kwok KY; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Choy KW; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
Dai H; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Baylor Genetics, Houston, Texas, USA.
Cao Y; Department of Obstetrics and Gynaecology, The Chinese University of Hong Kong, Hong Kong SAR, China.
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Źródło:
Prenatal diagnosis [Prenat Diagn] 2024 Feb; Vol. 44 (2), pp. 247-250. Date of Electronic Publication: 2023 Aug 19.
Typ publikacji:
Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:
TRPP Cation Channels*/genetics
Polycystic Kidney, Autosomal Dominant*/diagnosis
Polycystic Kidney, Autosomal Dominant*/genetics
Adult ; Female ; Pregnancy ; Humans ; Prenatal Diagnosis ; Genetic Association Studies ; Exome ; Mutation
Raport
Tytuł:
Clinical-genetic analysis of selected genes involved in the development of the human skeleton in 128 Czech patients with suspected congenital skeletal abnormalities.
Autorzy:
Spurná Z; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Čapková P; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic. Electronic address: .
Punová L; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
DuchoslavovÁ J; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Aleksijevic D; Paediatrics Department, Palacký University and University Hospital, Olomouc, Czech Republic.
Venháčová P; Paediatrics Department, Palacký University and University Hospital, Olomouc, Czech Republic.
Srovnal J; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic; Institute of Molecular and Translational Medicine, Czech Advanced Technology and Research Institute, Palacky University in Olomouc, Czech Republic; Cancer Research Czech Republic, Olomouc, Czech Republic.
Štellmachová J; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Curtisová V; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Bitnerová V; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Petřková J; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; First Department of Internal Medicine - Cardiology, University Hospital Olomouc, Olomouc, Czech Republic; First Department of Internal Medicine - Cardiology, Palacký University in Olomouc, Olomouc, Czech Republic; Institute of Pathological Physiology, Palacký University in Olomouc, Olomouc, Czech Republic.
Kolaříková K; Department of Neurology, University Hospital Olomouc, Czech Republic; Department of Neurology, Palacky University Olomouc, Czech Republic.
Janíková M; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic; Institute of Clinical and Molecular Pathology, Palacký University in Olomouc, Olomouc, Czech Republic.
Kratochvílová R; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic.
Vrtěl P; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Vodička R; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Vrtěl R; Institute of Medical Genetics, Olomouc University Hospital, Olomouc, Czech Republic; Institute of Medical Genetics, Palacký University in Olomouc, Olomouc, Czech Republic.
Zapletalová J; Paediatrics Department, Palacký University and University Hospital, Olomouc, Czech Republic.
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Źródło:
Gene [Gene] 2024 Jan 20; Vol. 892, pp. 147881. Date of Electronic Publication: 2023 Oct 06.
Typ publikacji:
Journal Article
MeSH Terms:
Growth Disorders*/epidemiology
Growth Disorders*/genetics
Growth Disorders*/metabolism
Skeleton*/metabolism
Child ; Humans ; Czech Republic ; Genetic Association Studies ; Gene Frequency/genetics ; Short Stature Homeobox Protein/genetics
Czasopismo naukowe
Tytuł:
MRSamePopTest: introducing a simple falsification test for the two-sample mendelian randomisation 'same population' assumption.
Autorzy:
Woolf B; School of Psychological Science, University of Bristol, Bristol, UK. .; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK. .; MRC Biostatistics Unit, University of Cambridge, Cambridge, UK. .
Mason A; Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK.; British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.
Zagkos L; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
Sallis H; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.; Centre for Academic Mental Health, Population Health Sciences, Bristol Medical School, University of Bristol, Bristol, UK.
Munafò MR; School of Psychological Science, University of Bristol, Bristol, UK.; MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
Gill D; Victor Phillip Dahdaleh Heart and Lung Research Institute, University of Cambridge, Cambridge, UK.; Department of Epidemiology and Biostatistics, School of Public Health, Imperial College London, London, UK.
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Źródło:
BMC research notes [BMC Res Notes] 2024 Jan 17; Vol. 17 (1), pp. 27. Date of Electronic Publication: 2024 Jan 17.
Typ publikacji:
Journal Article
MeSH Terms:
Mendelian Randomization Analysis*/methods
Genome-Wide Association Study*/methods
Causality ; Phenotype ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Dissecting the Clinical Heterogeneity and Genotype-Phenotype Correlations of MAPT Mutations: A Systematic Review.
Autorzy:
Villa C; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Pellencin E; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Romeo A; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Giaccone G; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Rossi G; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Prioni S; Clinical Neuropsychology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
Caroppo P; Neurology V and Neuropathology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milano, Italy.
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Źródło:
Frontiers in bioscience (Landmark edition) [Front Biosci (Landmark Ed)] 2024 Jan 16; Vol. 29 (1), pp. 12.
Typ publikacji:
Systematic Review
MeSH Terms:
Frontotemporal Dementia*/genetics
Humans ; tau Proteins/genetics ; tau Proteins/metabolism ; Mutation ; Genetic Association Studies ; Phenotype
Tytuł:
Distinct Clinical Effects of Two RP1L1 Hotspots in East Asian Patients With Occult Macular Dystrophy (Miyake Disease): EAOMD Report 4.
Autorzy:
Fujinami-Yokokawa Y; Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan.; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; UCL Institute of Ophthalmology, London, United Kingdom.; Division of Public Health, Yokokawa Clinic, Suita, Japan.
Joo K; Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea.
Liu X; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; Southwest Hospital, Army Medical University, Chongqing, China.; Key Lab of Visual Damage and Regeneration & Restoration of Chongqing, Chongqing, China.
Tsunoda K; Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.
Kondo M; Department of Ophthalmology, Mie University Graduate School of Medicine, Mie, Japan.
Ahn SJ; Department of Ophthalmology, Hanyang University Hospital, Hanyang University College of Medicine, Seoul, Republic of Korea.
Robson AG; UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
Naka I; Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
Ohashi J; Department of Biological Sciences, Graduate School of Science, The University of Tokyo, Tokyo, Japan.
Li H; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Yang L; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Arno G; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
Pontikos N; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
Park KH; Department of Ophthalmology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Republic of Korea.
Michaelides M; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
Tachimori H; Endowed Course for Health System Innovation, Keio University School of Medicine, Tokyo, Japan.
Miyata H; Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan.
Sui R; Department of Ophthalmology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
Woo SJ; Department of Ophthalmology, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea.
Fujinami K; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, NHO Tokyo Medical Center, Tokyo, Japan.; UCL Institute of Ophthalmology, London, United Kingdom.; Moorfields Eye Hospital, London, United Kingdom.
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Corporate Authors:
East Asia Inherited Retinal Disease Society Study Group*
Źródło:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2024 Jan 02; Vol. 65 (1), pp. 41.
Typ publikacji:
Journal Article
MeSH Terms:
Artificial Intelligence*
Eye Proteins*/genetics
Macular Degeneration*/genetics
Adolescent ; Adult ; Humans ; Young Adult ; Amino Acids ; China ; Chronic Disease ; East Asian People ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Genotype-phenotype correlations in carriers of the PMS2 founder variant c.1831dup.
Autorzy:
Gass M; Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Seebauer B; Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Thommen A; Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Fischler A; Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.
Heinimann K; Institute for Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland.; Research Group Human Genomics, Department of Biomedicine, University of Basel, Basel, Switzerland.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2360.
Typ publikacji:
Journal Article
MeSH Terms:
Colorectal Neoplasms*/genetics
Colorectal Neoplasms, Hereditary Nonpolyposis*/pathology
Humans ; Adult ; Mismatch Repair Endonuclease PMS2/genetics ; Genotype ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Arg4810Lys mutation in RNF213 among Eastern Indian non-MMD ischemic stroke patients: a genotype-phenotype correlation.
Autorzy:
Sadhukhan D; Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Mitra P; Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Mishra S; Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Roy A; Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Podder G; Institute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India.
Ray BK; Institute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India.
Biswas A; Institute of Post Graduate Medical Education & Research and Bangur Institute of Neurosciences, Kolkata, India.
Hui SP; S. N. Pradhan Centre for Neurosciences, University of Calcutta, Kolkata, India.
Banerjee TK; Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India.
Biswas A; Molecular Biology & Clinical Neuroscience Division, National Neurosciences Centre, Calcutta, Kolkata, India. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2024 Jan; Vol. 45 (1), pp. 315-319. Date of Electronic Publication: 2023 Sep 12.
Typ publikacji:
Journal Article
MeSH Terms:
Moyamoya Disease*/epidemiology
Ischemic Stroke*
Adult ; Humans ; Genetic Predisposition to Disease ; Adenosine Triphosphatases/genetics ; Ubiquitin-Protein Ligases/genetics ; Genetic Association Studies ; Mutation/genetics
SCR Disease Name:
Moyamoya disease 1
Czasopismo naukowe
Tytuł:
Mutation and clinical analysis of the CLCC1 gene in amyotrophic lateral sclerosis patients from Central South China.
Autorzy:
Tang L; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Tang X; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Zhao Q; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Li Y; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Bu Y; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Liu Z; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Li J; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, P. R. China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, P. R. China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.
Guo J; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, P. R. China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, P. R. China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, P. R. China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, P. R. China.; Hunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha, P. R. China.
Shen L; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, P. R. China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, P. R. China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, P. R. China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, P. R. China.; Hunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha, P. R. China.
Jiang H; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, P. R. China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, P. R. China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, P. R. China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, P. R. China.; Hunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha, P. R. China.
Tang B; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, P. R. China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, P. R. China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, P. R. China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, P. R. China.; Hunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha, P. R. China.
Xu R; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Jiangxi Provincial People's Hospital, Clinical College of Nanchang Medical College, First Affiliated Hospital of Nanchang Medical College, Nanchang, P. R. China.
Cao W; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Jiangxi Provincial People's Hospital, Clinical College of Nanchang Medical College, First Affiliated Hospital of Nanchang Medical College, Nanchang, P. R. China.
Yuan Y; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.
Wang J; Department of Neurology, Xiangya Hospital, Central South University, Jiangxi Hospital, National Regional Center for Neurological Diseases, Nanchang, P. R. China.; Department of Neurology, Xiangya Hospital, Central South University, Changsha, P. R. China.; National Clinical Research Center for Geriatric Diseases, Xiangya Hospital, Central South University, Changsha, P. R. China.; Center for Medical Genetics, School of Life Sciences, Central South University, Changsha, P. R. China.; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, P. R. China.; Engineering Research Center of Hunan Province in Cognitive Impairment Disorders, Central South University, Changsha, P. R. China.; Hunan International Scientific and Technological Cooperation Base of Neurodegenerative and Neurogenetic Diseases, Changsha, P. R. China.; Hunan Provincial University Key Laboratory of the Fundamental and Clinical Research on Neurodegenerative Diseases, Changsha, P. R. China.
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Źródło:
Annals of clinical and translational neurology [Ann Clin Transl Neurol] 2024 Jan; Vol. 11 (1), pp. 79-88. Date of Electronic Publication: 2023 Nov 02.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Humans ; Mutation ; Mutation, Missense ; Genetic Association Studies ; China ; Chloride Channels/genetics
Czasopismo naukowe
Tytuł:
MMP3 single-nucleotide polymorphisms are associated with noncontact ACL injuries in competing high-level athletes.
Autorzy:
Simunic-Briski N; Genos Ltd., Zagreb, Croatia.
Vrgoc G; Faculty of Kinesiology, University of Zagreb, Zagreb, Croatia.; Department of Orthopaedic Surgery, University Hospital 'Sveti Duh', Zagreb, Croatia.
Knjaz D; Faculty of Kinesiology, University of Zagreb, Zagreb, Croatia.
Jankovic S; Faculty of Kinesiology, University of Zagreb, Zagreb, Croatia.; Department of Orthopaedic Surgery, University Hospital 'Sveti Duh', Zagreb, Croatia.
Dembic Z; Institute of Oral Biology, Faculty of Dentistry, University of Oslo, Oslo, Norway.
Lauc G; Genos Ltd., Zagreb, Croatia.; Faculty of Pharmacy and Biochemistry, University of Zagreb, Zagreb, Croatia.
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Źródło:
Journal of orthopaedic research : official publication of the Orthopaedic Research Society [J Orthop Res] 2024 Jan; Vol. 42 (1), pp. 109-114. Date of Electronic Publication: 2023 Jul 24.
Typ publikacji:
Journal Article
MeSH Terms:
Anterior Cruciate Ligament Injuries*
Polymorphism, Single Nucleotide*
Matrix Metalloproteinase 3*/genetics
Humans ; Athletes ; Athletic Injuries/genetics ; Case-Control Studies ; Genetic Association Studies ; Male ; Female ; Adult
Czasopismo naukowe

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