Temat: "Homozygote" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: Analyses of whole-genome sequences from 185 North American Thoroughbred horses, spanning 5 generations.
Autorzy:: Bailey E; University of Kentucky, Maxwell H. Gluck Equine Research Center, Lexington, KY, 40546, USA.
Finno CJ; University of California-Davis, Population Health and Reproduction, Davis, CA, 95616, USA.
Cullen JN; Department of Veterinary Population Medicine, University of Minnesota, St. Paul, MN, 55108, USA.
Kalbfleisch T; University of Kentucky, Maxwell H. Gluck Equine Research Center, Lexington, KY, 40546, USA. .
Petersen JL; Department of Animal Science, University of Nebraska-Lincoln, Lincoln, NE, 68583-0908, USA. .; Pokaż więcej
Źródło:: Scientific reports [Sci Rep] 2024 Oct 02; Vol. 14 (1), pp. 22930. Date of Electronic Publication: 2024 Oct 02.
Typ publikacji:: Journal Article
MeSH Terms:: Whole Genome Sequencing*/methods
Polymorphism, Single Nucleotide*
Pedigree*
Inbreeding*
Homozygote*
Animals ; Horses/genetics ; North America ; Male ; Female ; Genome ; Genetic Variation ; Breeding

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 2.

Tytuł:: A homozygous ARMC3 splicing variant causes asthenozoospermia and flagellar disorganization in a consanguineous family.
Autorzy:: Rahim F; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Tao L; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Khan K; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Ali I; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Zeb A; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Khan I; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Dil S; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Abbas T; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Hussain A; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Zubair M; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Zhang H; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Hui M; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Khan MA; Gomal Centre of Biochemistry and Biotechnology, Gomal University, Dera Ismail Khan, Khyber Pakhtunkhwa, Pakistan.
Shah W; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Shi Q; Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, The CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.; Pokaż więcej
Źródło:: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 437-447. Date of Electronic Publication: 2024 Jun 21.
Typ publikacji:: Journal Article
MeSH Terms:: Asthenozoospermia*/genetics
Asthenozoospermia*/pathology
Consanguinity*
Homozygote*
Pedigree*
RNA Splicing*/genetics
Sperm Tail*/pathology
Sperm Tail*/ultrastructure
Sperm Tail*/metabolism
Adult ; Humans ; Male ; Exome Sequencing ; Infertility, Male/genetics ; Infertility, Male/pathology ; Mutation ; Sperm Motility/genetics ; Spermatozoa/ultrastructure ; Spermatozoa/pathology

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 3.

Tytuł:: A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).
Autorzy:: Umair M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Ahmed Z; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
Shaker B; Global AI Drug Discovery Center, College of Pharmacy and Graduate School of Pharmaceutical Sciences, Ewha Womans University, Seoul, Korea.
Bilal M; Department of Pathology and Laboratory Medicine, Aga Khan University, Karachi, Pakistan.
Al Abdulrahman A; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.
Khan H; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.; Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
Jawad Khan M; Department of Biosciences, COMSATS Institute of Information Technology, Islamabad, Pakistan.
Alfadhel M; Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard Health Affairs (MNGH), Riyadh, Saudi Arabia.; Genetics and Precision Medicine Department (GPM), King Abdullah Specialized Children's Hospital, Riyadh, Saudi Arabia.; Pokaż więcej
Źródło:: Clinical genetics [Clin Genet] 2024 Oct; Vol. 106 (4), pp. 488-493. Date of Electronic Publication: 2024 Jun 10.
Typ publikacji:: Journal Article; Case Reports
MeSH Terms:: Exome Sequencing*
Homozygote*
Pedigree*
Polydactyly*/genetics
Toes*/abnormalities
Female ; Humans ; Male ; Fingers/abnormalities ; Genetic Association Studies ; Genetic Predisposition to Disease ; Mutation/genetics ; Mutation, Missense/genetics ; Phenotype
SCR Disease Name:: Polydactyly, Postaxial

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 4.

Tytuł:: Homozygous LPL and GPIHBP1 variants causing familial chylomicronaemia syndrome in Sri Lankan children.
Autorzy:: Kiyamudeen F; Department of Chemical Pathology, National Hospital, Kandy, Sri Lanka. Electronic address: .
Rajapaksha M; Department of Chemical Pathology, National Hospital, Kandy, Sri Lanka.
Atapattu N; Department of Paediatrics, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.
Kularatne SD; Department of Paediatrics, National Hospital, Kandy, Sri Lanka.
Schröder S; CENTOGENE GmbH, Rostock, Germany.
Hooper AJ; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine, University of Western Australia, Perth, WA, Australia.
Burnett JR; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Royal Perth Hospital and Fiona Stanley Hospital Network, Perth, WA, Australia; School of Medicine, University of Western Australia, Perth, WA, Australia.
Jasinge E; Department of Chemical Pathology, Lady Ridgeway Hospital for Children, Colombo, Sri Lanka.; Pokaż więcej
Źródło:: Pathology [Pathology] 2024 Oct; Vol. 56 (6), pp. 904-906. Date of Electronic Publication: 2024 May 08.
Typ publikacji:: Letter
MeSH Terms:: Hyperlipoproteinemia Type I*/genetics
Hyperlipoproteinemia Type I*/diagnosis
Lipoprotein Lipase*/genetics
Homozygote*
Receptors, Lipoprotein*/genetics
Humans ; Male ; Female ; Sri Lanka ; Child ; Mutation ; Child, Preschool ; Infant

Opinia redakcyjna

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 5.

Tytuł:: Generation of an induced pluripotent stem cell (iPSC) line (EXSURGi001-A) from a patient homozygous for the p.Ala165Thr mutation in the MTARC1 gene.
Autorzy:: Tang P; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Keshi E; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Clinician Scientist Program, Berlin Institute of Health at Charité (BIH), Anna-Louisa-Karsch-Str. 2, 10178 Berlin, Germany.
Wilken S; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Wutsdorff L; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Mougnekabol J; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Pratschke J; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Sauer IM; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.
Haep N; Department of Surgery, Campus Virchow-Klinikum, Experimental Surgery, Charité - Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität Berlin, Augustenburger Platz 1, 13353 Berlin, Germany; Clinician Scientist Program, Berlin Institute of Health at Charité (BIH), Anna-Louisa-Karsch-Str. 2, 10178 Berlin, Germany. Electronic address: .; Pokaż więcej
Źródło:: Stem cell research [Stem Cell Res] 2024 Oct; Vol. 80, pp. 103516. Date of Electronic Publication: 2024 Jul 30.
Typ publikacji:: Journal Article
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Homozygote*
Humans ; Mutation ; Cell Line ; Cell Differentiation ; Male

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 6.

Tytuł:: A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Autorzy:: Mavillard F; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
Guerra-Castellano A; Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain.
Guerrero-Gómez D; Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
Rivas E; Department of Neuropathology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
Cantero G; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
Servian-Morilla E; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
Folland C; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Ravenscroft G; Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA 6009, Australia.
Martín MA; Mitochondrial & Neuromuscular Disorders Group, Genetics Department, Hospital 12 de Octubre Research Institute (imas12), Madrid, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Miranda-Vizuete A; Redox Homeostasis Group, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain.
Cabrera-Serrano M; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain.
Diaz-Moreno I; Instituto de Investigaciones Químicas, Universidad de Sevilla-CSIC, Sevilla, Spain. Electronic address: .
Paradas C; Neuromuscular Unit, Neurology Department, Instituto de Biomedicina de Sevilla (IBIS)/Hospital Virgen del Rocío/CSIC/Universidad de Sevilla, Spain; Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas (CIBERNED), Instituto de Salud Carlos III, Sevilla, Spain. Electronic address: .; Pokaż więcej
Źródło:: Biochimica et biophysica acta. Molecular basis of disease [Biochim Biophys Acta Mol Basis Dis] 2024 Oct; Vol. 1870 (7), pp. 167330. Date of Electronic Publication: 2024 Jul 01.
Typ publikacji:: Journal Article; Case Reports; Research Support, Non-U.S. Gov't
MeSH Terms:: Homozygote*
Humans ; Male ; Apraxias/genetics ; Female ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/pathology ; Mutation ; Pedigree ; RNA Splicing/genetics

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 7.

Tytuł:: A novel homozygous SLC12A3 mutation causing Gitelman syndrome with co-existent autoimmune thyroiditis: a case report and review of the literature.
Autorzy:: Koca O; Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Kocamustafapasa Street No:53 Fatih, 34098, Istanbul, Turkey. .
Alay MT; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Murt A; Division of Nephrology, Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Kalayci Yigin A; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Seven M; Department of Medical Genetics, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Bavunoglu I; Department of Internal Medicine, Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Kocamustafapasa Street No:53 Fatih, 34098, Istanbul, Turkey.; Pokaż więcej
Źródło:: CEN case reports [CEN Case Rep] 2024 Oct; Vol. 13 (5), pp. 330-338. Date of Electronic Publication: 2024 Feb 03.
Typ publikacji:: Case Reports; Journal Article; Review
MeSH Terms:: Gitelman Syndrome*/genetics
Gitelman Syndrome*/complications
Gitelman Syndrome*/diagnosis
Solute Carrier Family 12, Member 3*/genetics
Homozygote*
Mutation*
Thyroiditis, Autoimmune*/genetics
Thyroiditis, Autoimmune*/complications
Thyroiditis, Autoimmune*/diagnosis
Humans ; Female ; Male

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 8.

Tytuł:: A homozygous missense variant in YTHDC2 induces azoospermia in two siblings.
Autorzy:: Tian S; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.
Faheem M; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.; National Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
Satti HS; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan.
Xiao J; Division of Bone and Mineral Diseases, Musculoskeletal Research Center, Washington University School of Medicine, St. Louis, MO, 63110, USA.
Zhang F; Shanghai Key Laboratory of Metabolic Remodeling and Health, Institute of Metabolism and Integrative Biology, Human Phenome Institute, Zhangjiang Fudan International Innovation Center, Fudan University, Shanghai, 200438, China.; Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China.
Khan TN; Department of Biological Sciences, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. .; National Institute of Advance Studies and Research, National University of Medical Sciences, Rawalpindi, 46000, Pakistan. .
Liu C; Soong Ching Ling Institute of Maternity and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200030, China. .; Pokaż więcej
Źródło:: Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Sep 02; Vol. 299 (1), pp. 84. Date of Electronic Publication: 2024 Sep 02.
Typ publikacji:: Journal Article; Case Reports
MeSH Terms:: Azoospermia*/genetics
Azoospermia*/pathology
Exome Sequencing*
Homozygote*
Mutation, Missense*
Pedigree*
Siblings*
Adult ; Animals ; Humans ; Male ; Mice ; Consanguinity ; Infertility, Male/genetics ; Infertility, Male/pathology ; Pakistan ; RNA Helicases/genetics

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 9.

Tytuł:: A novel homozygous mutation in the DNAAF3 gene leads to severe asthenozoospermia and teratospermia.
Autorzy:: Chen D; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Fan G; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Xu Y; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Luo P; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Chen Q; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Chen X; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Guo Z; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Zhu X; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
Gao Y; Reproductive Medicine Center, Guangdong Provincial Key Laboratory of Reproductive Medicine, Guangdong Provincial Clinical Research Center for obstetrical and gynecological diseases, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.; Pokaż więcej
Źródło:: Journal of cellular and molecular medicine [J Cell Mol Med] 2024 Sep; Vol. 28 (18), pp. e70092.
Typ publikacji:: Journal Article; Case Reports
MeSH Terms:: Homozygote*
Asthenozoospermia*/genetics
Asthenozoospermia*/pathology
Mutation*/genetics
Teratozoospermia*/genetics
Male ; Humans ; Animals ; Mice ; Exome Sequencing ; Infertility, Male/genetics ; Mice, Inbred C57BL ; Adult ; Ciliary Motility Disorders/genetics

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 10.

Tytuł:: Generation of a homozygous (MCRIi031-A-3) WT1 knockout human iPSC line.
Autorzy:: Pachernegg S; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Robevska G; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia.
Ferreira LGA; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
van den Bergen JA; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia.
Vlahos K; iPSC Derivation and Gene Editing Facility, Murdoch Children's Research Institute, Melbourne, Australia.
Howden SE; Department of Paediatrics, The University of Melbourne, Melbourne, Australia; iPSC Derivation and Gene Editing Facility, Murdoch Children's Research Institute, Melbourne, Australia; Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, Australia.
Sinclair AH; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Ayers KL; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address: .; Pokaż więcej
Źródło:: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103494. Date of Electronic Publication: 2024 Jul 10.
Typ publikacji:: Journal Article
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Induced Pluripotent Stem Cells*/cytology
WT1 Proteins*/genetics
WT1 Proteins*/metabolism
Homozygote*
Humans ; Cell Line ; CRISPR-Cas Systems ; Cell Differentiation ; Gene Knockout Techniques ; Gene Editing

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 11.

Tytuł:: Characterization of runs of homozygosity islands in American mink using whole-genome sequencing data.
Autorzy:: Davoudi P; Department of Animal Science and Aquaculture, Dalhousie University, Truro, Nova Scotia, Canada.
Do DN; Department of Animal Science and Aquaculture, Dalhousie University, Truro, Nova Scotia, Canada.
Rathgeber B; Department of Animal Science and Aquaculture, Dalhousie University, Truro, Nova Scotia, Canada.
Colombo S; Department of Animal Science and Aquaculture, Dalhousie University, Truro, Nova Scotia, Canada.
Sargolzaei M; Department of Pathobiology, University of Guelph, Guelph, Ontario, Canada.; Select Sires Inc., Plain City, Ohio, USA.
Plastow G; Livestock Gentec, Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada.
Wang Z; Livestock Gentec, Department of Agricultural, Food and Nutritional Science, University of Alberta, Edmonton, Alberta, Canada.
Miar Y; Department of Animal Science and Aquaculture, Dalhousie University, Truro, Nova Scotia, Canada.; Pokaż więcej
Źródło:: Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie [J Anim Breed Genet] 2024 Sep; Vol. 141 (5), pp. 507-520. Date of Electronic Publication: 2024 Feb 22.
Typ publikacji:: Journal Article
MeSH Terms:: Mink*/genetics
Homozygote*
Whole Genome Sequencing*
Animals ; Polymorphism, Single Nucleotide ; Animal Fur

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 12.

Tytuł:: The role of SLC26A8 homozygous variants in male infertility and flagellum abnormalities.
Autorzy:: Mao B; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.; The Reproductive Medicine Center, Lanzhou University First Hospital, Lanzhou 730000, China.
Zhang SS; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Zhao LT; School of Second Clinical Medicine, Lanzhou University Second Hospital, Lanzhou 730030, China.
Huang HR; School of Second Clinical Medicine, Lanzhou University Second Hospital, Lanzhou 730030, China.
Ma FD; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Shi WJ; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Li S; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Nie ZY; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Xiao HD; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Xie XD; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.
Li PQ; Institute of Genetics, School of Basic Medical Sciences, Lanzhou University, Lanzhou 730000, China.; Pokaż więcej
Źródło:: Asian journal of andrology [Asian J Androl] 2024 Sep 01; Vol. 26 (5), pp. 544-546. Date of Electronic Publication: 2024 Jul 09.
Typ publikacji:: Letter; Journal Article
MeSH Terms:: Infertility, Male*/genetics
Sulfate Transporters*/genetics
Homozygote*
Humans ; Male ; Sperm Tail/pathology ; Flagella/genetics

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 13.

Tytuł:: Homozygous ACTL9 mutations cause irregular mitochondrial sheath arrangement and abnormal flagellum assembly in spermatozoa and male infertility.
Autorzy:: Li Q; Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, 410008, China.; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, 410078, China.
Huang Y; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, 410078, China.; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410078, China.
Zhang S; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, 410078, China.; Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410078, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, 410078, China.
Gong F; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, 410078, China.; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410078, China.; Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410078, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, 410078, China.
Lu G; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, 410078, China.; Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410078, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, 410078, China.
Lin G; Laboratory of Reproductive and Stem Cell Engineering, National Health and Family Planning Commission, Changsha, 410078, China.; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410078, China.; Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410078, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, 410078, China.
Dai J; Reproductive Medicine Center, Xiangya Hospital, Central South University, Changsha, 410008, China. .; Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, 410078, China. .; Reproductive and Genetic Hospital of CITIC-XIANGYA, Changsha, 410078, China. .; Clinical Research Center for Reproduction and Genetics in Hunan Province, Changsha, 410078, China. .; Pokaż więcej
Źródło:: Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2024 Sep; Vol. 41 (9), pp. 2271-2278. Date of Electronic Publication: 2024 Jul 04.
Typ publikacji:: Journal Article
MeSH Terms:: Infertility, Male*/genetics
Infertility, Male*/pathology
Homozygote*
Spermatozoa*/pathology
Spermatozoa*/ultrastructure
Spermatozoa*/metabolism
Mitochondria*/genetics
Mitochondria*/ultrastructure
Mitochondria*/pathology
Mitochondria*/metabolism
Mutation*/genetics
Sperm Tail*/pathology
Sperm Tail*/metabolism
Sperm Tail*/ultrastructure
Flagella*/genetics
Flagella*/ultrastructure
Flagella*/metabolism
Sperm Motility*/genetics
Male ; Humans ; Mice ; Animals ; Exome Sequencing ; Pedigree ; Adult ; Semen Analysis

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 14.

Tytuł:: Generation of heterozygous (MCRIi031-A-1) and homozygous (MCRIi031-A-2) SOX9 knockout human iPSC lines.
Autorzy:: Pachernegg S; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Robevska G; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia.
G A Ferreira L; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Laboratory of Molecular and Translational Endocrinology, Universidade Federal de Sao Paulo, Sao Paulo, Brazil.
van den Bergen JA; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia.
Vlahos K; iPSC Derivation and Gene Editing Facility, Murdoch Children's Research Institute, Melbourne, Australia.
Howden SE; Department of Paediatrics, The University of Melbourne, Melbourne, Australia; iPSC Derivation and Gene Editing Facility, Murdoch Children's Research Institute, Melbourne, Australia; Novo Nordisk Foundation Center for Stem Cell Medicine (reNEW), Murdoch Children's Research Institute, Melbourne, Australia.
Sinclair AH; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia.
Ayers KL; Reproductive Development, Murdoch Children's Research Institute, Melbourne, Australia; Department of Paediatrics, The University of Melbourne, Melbourne, Australia. Electronic address: .; Pokaż więcej
Źródło:: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103484. Date of Electronic Publication: 2024 Jun 22.
Typ publikacji:: Journal Article
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Induced Pluripotent Stem Cells*/cytology
SOX9 Transcription Factor*/metabolism
SOX9 Transcription Factor*/genetics
Homozygote*
Heterozygote*
Humans ; Cell Line ; CRISPR-Cas Systems ; Gene Knockout Techniques ; Gene Editing ; Cell Differentiation

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 15.

Tytuł:: Derivation of two iPSC lines (KAIMRCi004-A, KAIMRCi004-B) from a Saudi patient with Biotin-Thiamine-responsive Basal Ganglia Disease (BTBGD) carrying homozygous pathogenic missense variant in the SCL19A3 gene.
Autorzy:: Alowaysi M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Baadhaim M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Al-Shehri M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Alzahrani H; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Badkok A; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Attas H; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Zakri S; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Alameer S; Clinical Biomedical Genetics, Ministry of the National Guard Health Affairs, Jeddah, Saudi Arabia.
Malibari D; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Hosawi M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.
Daghestani M; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Ministry of the National Guard Health Affairs, Jeddah, Saudi Arabia.
Al-Ghamdi K; Forensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Muharraq M; Forensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Zia A; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Tegne J; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Alfadhel M; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi Arabia.; Department of Medical Genomics Research, King Abdullah International Medical Research Center, Ministry of National Guard Health Affairs, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia.
Aboalola D; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia. .
Alsayegh K; King Abdullah International Medical Research Center (KAIMRC), King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Jeddah, Saudi Arabia. .; Pokaż więcej
Źródło:: Human cell [Hum Cell] 2024 Sep; Vol. 37 (5), pp. 1567-1577. Date of Electronic Publication: 2024 Jul 09.
Typ publikacji:: Journal Article; Case Reports
MeSH Terms:: Induced Pluripotent Stem Cells*
Basal Ganglia Diseases*/genetics
Homozygote*
Mutation, Missense*/genetics
Humans ; Female ; Child ; Thiamine ; Membrane Transport Proteins/genetics ; Cell Differentiation/genetics ; Saudi Arabia ; Cell Line ; Genetic Association Studies ; Biotin
SCR Disease Name:: Basal ganglia disease, biotin-responsive

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 16.

Tytuł:: Generation of two induced pluripotent stem cell lines from an Usher syndrome type 1B patient with the homozygous c.496del MYO7A variant.
Autorzy:: Wong EYM; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Curtin Medical School, Faculty of Health Sciences, Curtin University, Bentley, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Khoh XE; Ear Science Institute Australia, Nedlands, Western Australia, Australia; School of Human Sciences, The University of Western Australia, Nedlands, Western Australia, Australia.
Chen SC; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
Lye J; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Leith FK; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Zhang D; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia.
Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
McLaren TL; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia.
Atlas MD; Ear Science Institute Australia, Nedlands, Western Australia, Australia; Ear Sciences Centre, The University of Western Australia, Nedlands, Western Australia, Australia.
Chen FK; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Ophthalmology, Perth Children's Hospital, Nedlands, Western Australia, Australia. Electronic address: .
McLenachan S; Ocular Tissue Engineering Laboratory, Lions Eye Institute, Nedlands, Western Australia, Australia; Centre for Ophthalmology and Visual Sciences, The University of Western Australia, Nedlands, Western Australia, Australia. Electronic address: .; Pokaż więcej
Źródło:: Stem cell research [Stem Cell Res] 2024 Sep; Vol. 79, pp. 103492. Date of Electronic Publication: 2024 Jul 09.
Typ publikacji:: Journal Article
MeSH Terms:: Induced Pluripotent Stem Cells*/metabolism
Usher Syndromes*/genetics
Usher Syndromes*/pathology
Kruppel-Like Factor 4*
Myosin VIIa*
Homozygote*
Humans ; Cell Line ; Cell Differentiation ; Male ; Fibroblasts/metabolism

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 17.

Tytuł:: Genetic diversity and signatures of selection in Icelandic horses and Exmoor ponies.
Autorzy:: Sigurðardóttir H; Department of Animal Biosciences, Swedish University of Agricultural Sciences, P.O. Box 7023, Uppsala, 75007, Sweden. .; Faculty of Agricultural Sciences, Agricultural University of Iceland, Hvanneyri, Borgarbyggð, 311, Iceland. .
Ablondi M; Department of Veterinary Science, University of Parma, Parma, 43126, Italy.
Kristjansson T; Faculty of Agricultural Sciences, Agricultural University of Iceland, Hvanneyri, Borgarbyggð, 311, Iceland.
Lindgren G; Department of Animal Biosciences, Swedish University of Agricultural Sciences, P.O. Box 7023, Uppsala, 75007, Sweden.; Center for Animal Breeding and Genetics, Department of Biosystems, KU Leuven, Leuven, 3001, Belgium.
Eriksson S; Department of Animal Biosciences, Swedish University of Agricultural Sciences, P.O. Box 7023, Uppsala, 75007, Sweden.; Pokaż więcej
Źródło:: BMC genomics [BMC Genomics] 2024 Aug 08; Vol. 25 (1), pp. 772. Date of Electronic Publication: 2024 Aug 08.
Typ publikacji:: Journal Article
MeSH Terms:: Genetic Variation*
Selection, Genetic*
Homozygote*
Inbreeding*
Horses/genetics ; Animals ; Iceland ; Genomics/methods ; Polymorphism, Single Nucleotide ; Heterozygote ; Breeding ; Genetics, Population

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 18.

Tytuł:: Developmental epileptic encephalopathy caused by homozygosity of a c.172+1G>C variant in the WWOX gene.
Autorzy:: You Y; Department of Imaging, The Fourth Hospital of Hebei Medical University, Shijiazhuang, Hebei, P.R. China.
Wu W; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China.
Du Y; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China.
Hu J; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China.
Li B; Department of Neurology, Hebei Medical University, Hebei Children's Hospital, Shijiazhuang, Hebei, P.R. China.; Key Laboratory of Pediatric Epilepsy and Neurological Disorders of Hebei Province, Shijiazhuang, P.R. China.; Pokaż więcej
Źródło:: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Aug; Vol. 12 (8), pp. e2500.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: WW Domain-Containing Oxidoreductase*/genetics
Homozygote*
Spasms, Infantile*/genetics
Spasms, Infantile*/pathology
Phenotype*
Humans ; Female ; Infant ; Anticonvulsants/therapeutic use ; Mutation ; Vigabatrin/therapeutic use ; Tumor Suppressor Proteins

Czasopismo naukowe

na półce

Pełny tekst Pełny tekst Szczegóły

Skocz do pozycji: 19.

Tytuł:: Congenital cranial dysinnervation disorder with homozygous KIF26A variant.
Autorzy:: Gregg AT; Harvard Medical School, Boston, Massachusetts.
Gateman T; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts.
Whitman MC; Harvard Medical School, Boston, Massachusetts; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts. Electronic address: .; Pokaż więcej
Źródło:: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2024 Aug; Vol. 28 (4), pp. 103951. Date of Electronic Publication: 2024 Jun 10.
Typ publikacji:: Case Reports; Journal Article
MeSH Terms:: Kinesins*/genetics
Homozygote*
Humans ; Male ; Eye Movements/physiology ; Ocular Motility Disorders/genetics ; Ocular Motility Disorders/diagnosis ; Ocular Motility Disorders/physiopathology ; Oculomotor Muscles/abnormalities ; Oculomotor Muscles/physiopathology ; Oculomotor Muscles/innervation ; Congenital Cranial Dysinnervation Disorders ; Ophthalmoplegia
SCR Disease Name:: congenital fibrosis of the extraocular muscles

Czasopismo naukowe

na półce

Full Text Finder Szczegóły

Skocz do pozycji: 20.

Tytuł:: The compound pathogenic effects of a homozygous frameshift variant in the transmembrane region of GP9, causing Bernard-Soulier syndrome, with a missense variant in GP1BB.
Autorzy:: Ferrari S; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
Regazzo D; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
Cerbo A; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
Cortella I; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
Bertomoro A; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.
Simioni P; Department of Medicine - DIMED, Padova University Hospital, Padova, Italy.; Pokaż więcej
Źródło:: British journal of haematology [Br J Haematol] 2024 Aug; Vol. 205 (2), pp. 742-745. Date of Electronic Publication: 2024 Jun 25.
Typ publikacji:: Letter; Case Reports
MeSH Terms:: Mutation, Missense*
Bernard-Soulier Syndrome*/genetics
Frameshift Mutation*
Homozygote*
Platelet Glycoprotein GPIb-IX Complex*/genetics
Humans ; Male ; Female

Raport

na półce

Full Text Finder Szczegóły

Informacja

Wyszukujesz frazę ""Homozygote"" wg kryterium: Temat