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Wyszukujesz frazę ""genetic association studies"" wg kryterium: Temat


Tytuł:
Multiple phenotype association tests based on sliced inverse regression.
Autorzy:
Sun W; Key Laboratory for Applied Statistics of MOE, School of Mathematics and Statistics, Northeast Normal University, Changchun, 130024, Jilin, China.; Department of Mathematics, College of Science, Yanbian University, Yanji, 133002, Jilin, China.
Jon K; Key Laboratory for Applied Statistics of MOE, School of Mathematics and Statistics, Northeast Normal University, Changchun, 130024, Jilin, China.; Faculty of Mathematics, Kim Il Sung University, Pyongyan , 999093, Democratic People's Republic of Korea.
Zhu W; Key Laboratory for Applied Statistics of MOE, School of Mathematics and Statistics, Northeast Normal University, Changchun, 130024, Jilin, China. .; School of Mathematical Sciences, Harbin Normal University, Harbin, 150025, Heilongjiang, China. .
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Corporate Authors:
the Alzheimer’s Disease Neuroimaging Initiative
Źródło:
BMC bioinformatics [BMC Bioinformatics] 2024 Apr 04; Vol. 25 (1), pp. 144. Date of Electronic Publication: 2024 Apr 04.
Typ publikacji:
Journal Article
MeSH Terms:
Genome-Wide Association Study*/methods
Polymorphism, Single Nucleotide*
Phenotype ; Genotype ; Computer Simulation ; Genetic Association Studies ; Models, Genetic
Czasopismo naukowe
Tytuł:
Candidate Gene Identification and Transcriptome Analysis of Tomato male sterile - 30 and Functional Marker Development for ms - 30 and Its Alleles, ms - 33 , 7B - 1 , and stamenless - 2 .
Autorzy:
Wei K; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.; Department of Vegetable Science, College of Horticulture, China Agricultural University, Beijing 100193, China.
Li X; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Cao X; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Li S; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Zhang L; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.; Department of Vegetable Science, College of Horticulture, China Agricultural University, Beijing 100193, China.
Lu F; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Liu C; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Guo Y; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Liu L; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Zhu C; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Du Y; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Li J; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Yang W; Department of Vegetable Science, College of Horticulture, China Agricultural University, Beijing 100193, China.
Huang Z; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
Wang X; State Key Laboratory of Vegetable Biobreeding, Institute of Vegetables and Flowers, Chinese Academy of Agricultural Sciences, Beijing 100081, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 15; Vol. 25 (6). Date of Electronic Publication: 2024 Mar 15.
Typ publikacji:
Journal Article
MeSH Terms:
Solanum lycopersicum*/genetics
Infertility, Male*/genetics
Humans ; Male ; Alleles ; Plant Breeding ; Gene Expression Profiling ; Genetic Association Studies
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:
Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.
Autorzy:
Kessi M; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Chen B; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Shan LD; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Wang Y; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Yang L; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Yin F; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
He F; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Peng J; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China.; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China.
Wang G; Department of Pediatrics, Xiangya Hospital, Central South University, 410008, Changsha, Hunan, China. .; Hunan Intellectual and Developmental Disabilities Research Center, Changsha, Hunan, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2023 Mar 07; Vol. 16 (1), pp. 46. Date of Electronic Publication: 2023 Mar 07.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Intellectual Disability*
Munc18 Proteins*/genetics
Nitrazepam*
Genetic Association Studies*
Female ; Humans ; Male ; Adrenocorticotropic Hormone ; China ; Levetiracetam ; Phenobarbital ; Phenotype ; Retrospective Studies ; Topiramate ; Valproic Acid ; Vigabatrin
Czasopismo naukowe
Tytuł:
Clinical, laboratory and genetic features of Erdheim-Chester disease patients: analysis of a retrospective cohort of two reference centers in Latin America.
Autorzy:
Guerra Soares Brandão AA; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Ramires Neder Abdo A; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Lage LAPC; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.; Laboratory of Medical Investigation in Pathogenesis and Targeted Therapy in Onco-Immuno-Hematology (LIM-31), Department of Hematology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo Brazil.
Fatobene G; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.
Pereira J; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.; Laboratory of Medical Investigation in Pathogenesis and Targeted Therapy in Onco-Immuno-Hematology (LIM-31), Department of Hematology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo Brazil.
Rocha V; Instituto do Câncer do Estado de São Paulo (ICESP), São Paulo, Brazil.; Division of Hematology, Transfusion Medicine and Cell Therapy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, Brazil.; Laboratory of Medical Investigation in Pathogenesis and Targeted Therapy in Onco-Immuno-Hematology (LIM-31), Department of Hematology, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo Brazil.; Churchill Hospital, Oxford University, Oxford, UK.
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Źródło:
Hematology (Amsterdam, Netherlands) [Hematology] 2022 Dec; Vol. 27 (1), pp. 65-69.
Typ publikacji:
Letter
MeSH Terms:
Biomarkers, Tumor*
Genetic Association Studies*/methods
Genetic Predisposition to Disease*
Erdheim-Chester Disease/*diagnosis
Erdheim-Chester Disease/*genetics
Biopsy ; Bone Marrow/pathology ; Brazil ; Erdheim-Chester Disease/therapy ; Humans ; Latin America ; Mutation ; Neoplasm Staging ; Phenotype ; Retrospective Studies
Opinia redakcyjna
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:
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:
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:
The groundnut improvement network for Africa (GINA) germplasm collection: a unique genetic resource for breeding and gene discovery.
Autorzy:
Conde S; ISRA, Centre d'Etudes Régional pour l'Amélioration de l'Adaptation à la Sécheresse, CERAAS-Route de Khombole, Thiès BP 3320, Senegal.; UMR AGAP, CIRAD, 34398 Montpellier, France.; CIRAD, INRAE, AGAP, University Montpellier, Institut Agro, 34398 Montpellier, France.; F.S.T., Département de B.V., Université Cheikh Anta Diop, BP 5005 Dakar, Senegal.
Rami JF; UMR AGAP, CIRAD, 34398 Montpellier, France.; CIRAD, INRAE, AGAP, University Montpellier, Institut Agro, 34398 Montpellier, France.
Okello DK; National Semi-Arid Resources Research Institute-Serere, PO Box 56, Kampala, Uganda.
Sambou A; ISRA, Centre d'Etudes Régional pour l'Amélioration de l'Adaptation à la Sécheresse, CERAAS-Route de Khombole, Thiès BP 3320, Senegal.
Muitia A; Mozambique Agricultural Research Institute (Instituto de Investigação Agrária de Moçambique), Northeast Zonal Centre, Nampula Research Station, PO Box 1922, Nampula, Mozambique.
Oteng-Frimpong R; Groundnut Improvement Program, Council for Scientific and Industrial Research (CSIR)-Savanna Agricultural Research Institute, PO Box 52, Tamale, Ghana.
Makweti L; Zambia Agriculture Research Institute (ZARI), PO Box 510089, Chipata, Zambia.
Sako D; Institut d'Economie Rurale (IER), Centre Régional de Recherche Agronomique (CRRA), BP 281 Kayes, Mali.
Faye I; ISRA, Institut Sénégalais de Recherches Agricoles, Centre National de Recherche Agronomique, BP 53 Bambey, Sénégal.
Chintu J; Chitedze Agricultural Research Service, PO Box 158, Lilongwe, Malawi.
Coulibaly AM; Institut National de Recherche Agronomique du Niger (INRAN), BP 240 Maradi, Niger.
Miningou A; INERA, CREAF, 01 BP 476 Ouagadougou 01, Burkina Faso.
Asibuo JY; Council for Scientific and Industrial Research-Crops Research Institute (CSIR-CRI), P.O. Box 3785, Kumasi, Ghana.
Konate M; INERA, DRREA-Ouest, 01 BP 910 Bobo Dioulasso 01, Burkina Faso.
Banla EM; Institut Togolais de Recherche Agronomique (ITRA), 13BP267 Lome, Togo.
Seye M; ISRA, Centre d'Etudes Régional pour l'Amélioration de l'Adaptation à la Sécheresse, CERAAS-Route de Khombole, Thiès BP 3320, Senegal.
Djiboune YR; ISRA, Centre d'Etudes Régional pour l'Amélioration de l'Adaptation à la Sécheresse, CERAAS-Route de Khombole, Thiès BP 3320, Senegal.
Tossim HA; ISRA, Centre d'Etudes Régional pour l'Amélioration de l'Adaptation à la Sécheresse, CERAAS-Route de Khombole, Thiès BP 3320, Senegal.
Sylla SN; F.S.T., Département de B.V., Université Cheikh Anta Diop, BP 5005 Dakar, Senegal.
Hoisington D; Feed the Future Innovation Lab for Peanut, College of Agricultural and Environmental Sciences, University of Georgia, Athens, GA 30602, USA.
Clevenger J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.
Chu Y; Institute of Plant Breeding Genetics and Genomics and Department of Horticulture, College of Agricultural and Environmental Sciences, University of Georgia, Tifton, GA 31793, USA.
Tallury S; Plant Genetic Resources Conservation Unit, Griffin, GA 30223, USA.
Ozias-Akins P; Institute of Plant Breeding Genetics and Genomics and Department of Horticulture, College of Agricultural and Environmental Sciences, University of Georgia, Tifton, GA 31793, USA.
Fonceka D; ISRA, Centre d'Etudes Régional pour l'Amélioration de l'Adaptation à la Sécheresse, CERAAS-Route de Khombole, Thiès BP 3320, Senegal.; UMR AGAP, CIRAD, 34398 Montpellier, France.; CIRAD, INRAE, AGAP, University Montpellier, Institut Agro, 34398 Montpellier, France.
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Źródło:
G3 (Bethesda, Md.) [G3 (Bethesda)] 2023 Dec 29; Vol. 14 (1).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Variation*
Plant Breeding*
Polymorphism, Single Nucleotide ; Arachis/genetics ; Africa ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Expanding Genotype-Phenotype Correlation of CLCNKA and CLCNKB Variants Linked to Hearing Loss.
Autorzy:
Yun Y; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Park SS; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Lee S; GENOME INSIGHT TECHNOLOGY Inc., Daejeon 34051, Republic of Korea.
Seok H; Department of Transdisciplinary Research and Collaboration, Genomics Core Facility, Biomedical Research Institute, Seoul National University Hospital, Seoul 03080, Republic of Korea.
Park S; GENOME INSIGHT TECHNOLOGY Inc., Daejeon 34051, Republic of Korea.
Lee SY; Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.; Department of Genomic Medicine, Seoul National University Hospital, Seoul 03080, Republic of Korea.; Sensory Organ Research Institute, Seoul National University Medical Research Center, Seoul 03080, Republic of Korea.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 03; Vol. 24 (23). Date of Electronic Publication: 2023 Dec 03.
Typ publikacji:
Journal Article
MeSH Terms:
Alkalosis*
Bartter Syndrome*/genetics
Deafness*
Hearing Loss, Sensorineural*/genetics
Humans ; Chloride Channels/genetics ; Genetic Association Studies ; Genotype ; Mutation
Czasopismo naukowe
Tytuł:
The Study of the Influence of IL5RA Variants on Chronic Obstructive Pulmonary Disease.
Autorzy:
Li S; Department of General Practice, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Lin L; Department of General Practice, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Zhao J; Department of Pulmonary and Critical Care Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Yang Z; Department of Pulmonary and Critical Care Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Zhong Y; Department of General Practice, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Huang L; Department of Pulmonary and Critical Care Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Chen J; Department of General Practice, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Zhang L; Department of Pulmonary and Critical Care Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Ding Y; Department of General Practice, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.; Department of Pulmonary and Critical Care Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
Xie T; Department of Pulmonary and Critical Care Medicine, Hainan affiliated Hospital of Hainan Medical University, Hainan General Hospital, Haikou, Hainan, China.
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Źródło:
COPD [COPD] 2023 Dec; Vol. 20 (1), pp. 338-347. Date of Electronic Publication: 2023 Oct 31.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Pulmonary Disease, Chronic Obstructive*/genetics
Humans ; Genetic Predisposition to Disease ; Genetic Association Studies ; Case-Control Studies ; Genotype ; Polymorphism, Single Nucleotide ; Interleukin-5 Receptor alpha Subunit/genetics
Czasopismo naukowe
Tytuł:
In silico validation revealed the role of SCN5A mutations and their genotype-phenotype correlations in Brugada syndrome.
Autorzy:
Pham HM; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam.
Nguyen DP; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Ho Chi Minh City Heart Institute, Ho Chi Minh, Vietnam.
Ta TD; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Le TP; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Phan PH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam.
Trinh HA; Hue Central Hospital, Hue, Vietnam.
Tran TV; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Vietnam National Heart Institute, Bach Mai Hospital, Hanoi, Vietnam.
Luong TLA; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Nguyen HM; Hue Central Hospital, Hue, Vietnam.; Pham Ngoc Thanh University, Ho Chi Minh, Vietnam.
Bui TH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.; Center for Molecular Medicine, Clinical Genetics Unit, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden.
Tran TH; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Ta TV; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
Tran VK; Center for Gene and Protein Research, Hanoi Medical University, Hanoi, Vietnam.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2263. Date of Electronic Publication: 2023 Aug 07.
Typ publikacji:
Journal Article
MeSH Terms:
Brugada Syndrome*/genetics
Brugada Syndrome*/complications
Humans ; Mutation ; Genotype ; Genetic Testing ; Genetic Association Studies ; Ventricular Fibrillation ; Death, Sudden, Cardiac/etiology ; NAV1.5 Voltage-Gated Sodium Channel/genetics
Czasopismo naukowe
Tytuł:
A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.
Autorzy:
Zhao W; Department of Medical Genetics, First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.; National Health Commission, Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
Zhang Y; Department of Medical Genetics, First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.; National Health Commission, Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
Lv T; Department of Medical Genetics, First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.; National Health Commission, Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
He J; Department of Medical Genetics, First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.; National Health Commission, Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
Zhu B; Department of Medical Genetics, First People's Hospital of Yunnan Province, Kunming, China.; Affiliated Hospital of Kunming University of Science and Technology, Kunming, China.; National Health Commission, Key Laboratory of Preconception Health Birth in Western China, Kunming, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2023 Dec; Vol. 11 (12), pp. e2273. Date of Electronic Publication: 2023 Aug 21.
Typ publikacji:
Case Reports; Review; Journal Article
MeSH Terms:
Intellectual Disability*/genetics
Humans ; Mutation ; Histones/genetics ; Genotype ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
Combinatorial analysis of ACE and ACE2 polymorphisms reveals protection against COVID-19 worsening: A genetic association study in Brazilian patients.
Autorzy:
Sousa RBN; Department of Physiological Sciences, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Nascimento LRSD; Department of Physiological Sciences, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Costa LHA; Department of Physiological Sciences, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Leite VRMC; Laboratory of Molecular Biology, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Borges CL; Laboratory of Molecular Biology, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Deus JM; Department of Gynecology and Obstetrics, Federal University of Goiás, Goiânia, Goiás, Brazil.
Rebelo ACS; Department of Morphology, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Pinheiro DDS; Laboratory of Clinical Analysis and Health Education, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
Pedrino GR; Department of Physiological Sciences, Institute of Biological Sciences, Federal University of Goiás (UFG), Goiânia, Goiás, Brazil.
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Źródło:
PloS one [PLoS One] 2023 Nov 30; Vol. 18 (11), pp. e0288178. Date of Electronic Publication: 2023 Nov 30 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Angiotensin-Converting Enzyme 2*/genetics
COVID-19*/genetics
Peptidyl-Dipeptidase A*/genetics
Peptidyl-Dipeptidase A*/metabolism
Female ; Humans ; Brazil/epidemiology ; Genetic Association Studies ; Pandemics ; Renin-Angiotensin System/genetics
Czasopismo naukowe
Tytuł:
PathExpSurv: pathway expansion for explainable survival analysis and disease gene discovery.
Autorzy:
Hou Z; IAM, MADIS, NCMIS, Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China.; School of Mathematical Sciences, University of Chinese Academy of Sciences, Beijing, China.
Leng J; IAM, MADIS, NCMIS, Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China.; School of Mathematical Sciences, University of Chinese Academy of Sciences, Beijing, China.
Yu J; IAM, MADIS, NCMIS, Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China.; School of Mathematical Sciences, University of Chinese Academy of Sciences, Beijing, China.
Xia Z; Computational Biology Program, Oregon Health & Science University, Portland, USA. .; Department of Biomedical Engineering, Oregon Health & Science University, Portland, USA. .
Wu LY; IAM, MADIS, NCMIS, Academy of Mathematics and Systems Science, Chinese Academy of Sciences, Beijing, China. .; School of Mathematical Sciences, University of Chinese Academy of Sciences, Beijing, China. .
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Źródło:
BMC bioinformatics [BMC Bioinformatics] 2023 Nov 15; Vol. 24 (1), pp. 434. Date of Electronic Publication: 2023 Nov 15.
Typ publikacji:
Journal Article
MeSH Terms:
Knowledge*
Medicine*
Machine Learning ; Survival Analysis ; Genetic Association Studies
Czasopismo naukowe
Tytuł:
BRASS: Permutation methods for binary traits in genetic association studies with structured samples.
Autorzy:
Mbatchou J; Regeneron Genetics Center, Tarrytown, New York, United States of America.; Department of Statistics, The University of Chicago, Chicago, Illinois, United States of America.
Abney M; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
McPeek MS; Department of Statistics, The University of Chicago, Chicago, Illinois, United States of America.; Department of Human Genetics, The University of Chicago, Chicago, Illinois, United States of America.
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Źródło:
PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011020. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).
Typ publikacji:
Journal Article
MeSH Terms:
Genetic Testing*
Models, Genetic*
Animals ; Dogs ; Phenotype ; Genetic Association Studies ; Computer Simulation ; Genome-Wide Association Study ; Polymorphism, Single Nucleotide/genetics
Czasopismo naukowe
Tytuł:
Comprehensive analysis of genes associated with migraine in the Indian population: a meta-analysis of genetic association studies with trial sequential analysis.
Autorzy:
Sudershan A; Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India.; Department of Human Genetics, Sri Pratap College, Cluster University of Srinagar, Kashmir, Jammu and Kashmir, India.
Pushap AC; Department of Education, Dakshina Bharat Hindi Prachar Sabha, Madras, 600017, India.
Bhagat M; Department of Zoology and Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India.
Sharma I; Department of Zoology and Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India.
Kumar H; Department of Neurology, Super Specialty Hospital, Jammu, Jammu and Kashmir, 180006, India.
Digra SK; Department of Paediatrics, Sri Maharaja Gulab Singh Hospital, Government Medical College, Jammu, Jammu and Kashmir, 180006, India. .
Kumar P; Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India. .; Department of Zoology and Institute of Human Genetics, University of Jammu, Jammu, Jammu and Kashmir, 180006, India. .
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Źródło:
Scientific reports [Sci Rep] 2023 Nov 04; Vol. 13 (1), pp. 19070. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Systematic Review; Meta-Analysis; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Genetic Predisposition to Disease*
Migraine Disorders*/genetics
Migraine Disorders*/epidemiology
Humans ; Genetic Association Studies ; Alleles ; Asian People
Czasopismo naukowe
Tytuł:
Toll-like receptor 9 (-1237 T/C, -1486 T/C) and the risk of gastric cancer: a meta-analysis of genetic association studies.
Autorzy:
Qyi YZ; School of Medicine, International Medical University, Kuala Lumpur, Malaysia.; School of Humanities, Social Sciences and Law, University of Dundee, Dundee, Scotland, UK.
Aung HH; School of Medicine, International Medical University, Kuala Lumpur, Malaysia. .
Aye SN; School of Medicine, International Medical University, Kuala Lumpur, Malaysia.
Tung WS; School of Medicine, International Medical University, Kuala Lumpur, Malaysia.
Naing C; Faculty of Tropical Health and Medicine, James Cook University, Queensland, Australia.
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Źródło:
BMC cancer [BMC Cancer] 2023 Oct 24; Vol. 23 (1), pp. 1027. Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Meta-Analysis; Journal Article
MeSH Terms:
Stomach Neoplasms*/epidemiology
Stomach Neoplasms*/genetics
Toll-Like Receptor 9*/genetics
Humans ; Case-Control Studies ; Genetic Association Studies ; Genetic Predisposition to Disease ; Odds Ratio ; Polymorphism, Single Nucleotide ; Risk Factors
Czasopismo naukowe
Tytuł:
Molecular Marker-Assisted Mapping, Candidate Gene Identification, and Breeding in Melon ( Cucumis melo L.): A Review.
Autorzy:
Shahwar D; Department of Horticultural Bioscience, Pusan National University, Miryang 50463, Republic of Korea.
Khan Z; Center for Agricultural Education, Faculty of Agricultural Sciences, Aligarh Muslim University, Aligarh 202002, India.
Park Y; Department of Horticultural Bioscience, Pusan National University, Miryang 50463, Republic of Korea.; Life and Industry Convergence Research Institute, Pusan National University, Miryang 50463, Republic of Korea.
Pokaż więcej
Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Oct 23; Vol. 24 (20). Date of Electronic Publication: 2023 Oct 23.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Cucumis melo*/genetics
Cucurbitaceae*/genetics
Cucurbitaceae*/metabolism
Plant Breeding ; Quantitative Trait Loci ; Fruit/genetics ; Genetic Association Studies
Czasopismo naukowe

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