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Tytuł:
The first Chinese case of Siddiqi syndrome caused by a homozygous FITM2 variant.
Autorzy:
Lin Y; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Zhang W; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li D; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Chen X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Lu Z; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li X; Department of Neurology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Li X; Department of Genetics and Endocrinology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
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Źródło:
Clinical genetics [Clin Genet] 2022 Sep; Vol. 102 (3), pp. 246-247. Date of Electronic Publication: 2022 Jun 26.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Homozygote*
China ; Heterozygote ; Humans ; Mutation ; Pedigree ; Exome Sequencing
Raport
Szczegóły
Tytuł:
Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report.
Autorzy:
Cheng T; Department of Internal Medicine, School of Clinical Medicine, North China University of Science and Technology, Tangshan, 063210, Hebei, China.; Department of Endocrinology and Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China.
Liu J; Department of Endocrinology and Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China.
Sun W; Department of Internal Medicine, School of Clinical Medicine, North China University of Science and Technology, Tangshan, 063210, Hebei, China.; Department of Endocrinology and Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China.
Song G; Department of Endocrinology and Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China.; Hebei Key Laboratory of Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China.
Ma H; Department of Internal Medicine, School of Clinical Medicine, North China University of Science and Technology, Tangshan, 063210, Hebei, China. .; Department of Endocrinology and Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China. .; Hebei Key Laboratory of Metabolic Diseases, Hebei General Hospital, Shijiazhuang, 050051, Hebei, China. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2022 Mar 07; Vol. 22 (1), pp. 57. Date of Electronic Publication: 2022 Mar 07.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Heterozygote*
Homozygote*
Adrenal Hyperplasia, Congenital/*genetics
Mutation/*genetics
Steroid 21-Hydroxylase/*genetics
Adrenal Glands/diagnostic imaging ; Adrenal Hyperplasia, Congenital/complications ; Adrenal Hyperplasia, Congenital/drug therapy ; Adult ; Diagnosis, Differential ; Female ; Glucocorticoids/therapeutic use ; Humans ; Infertility/etiology ; Infertility/therapy ; Male ; Pedigree ; Polycystic Ovary Syndrome ; Pregnancy ; Sequence Analysis, DNA ; Tomography, X-Ray Computed
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Creutzfeldt-Jakob disease associated with a T188K homozygous mutation in the prion protein gene: a case report and review of the literature.
Autorzy:
Shan Y; Medical School of Chinese PLA, Beijing, P.R. China.; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.; Department of Neurology, Characteristic Medical Centre of People's Armed Police Force, Tianjin, P.R. China.
Zhang J; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.
Cen Y; Medical School of Chinese PLA, Beijing, P.R. China.; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.
Xu X; Medical School of Chinese PLA, Beijing, P.R. China.; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.
Tan R; Medical School of Chinese PLA, Beijing, P.R. China.; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.
Zhao J; Medical School of Chinese PLA, Beijing, P.R. China.; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.
Yu S; Department of Neurology, The First Medical Centre, Chinese PLA General Hospital, Beijing, P.R. China.
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Źródło:
Prion [Prion] 2022 Dec; Vol. 16 (1), pp. 14-18.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
Creutzfeldt-Jakob Syndrome*/diagnostic imaging
Creutzfeldt-Jakob Syndrome*/genetics
Prions*/genetics
Female ; Homozygote ; Humans ; Mutation/genetics ; Prion Proteins/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
Autorzy:
Ceylan AC; Department of Medical Genetics, Ankara City Hospital, Ankara, Turkey. .
Acar Arslan E; Faculty of Medicine, Department of Child Neurology, Karadeniz Technical University, Trabzon, Turkey.
Erdem HB; Department of Medical Genetics, Ankara Dışkapı Yıldırım Beyazıt Training and Research Hospital, Ankara, Turkey.
Kavus H; Department of Medical Genetics, Gulhane Training and Research Hospital, Ankara, Turkey.
Arslan M; Department of Child Neurology, Gulhane Training and Research Hospital, Ankara, Turkey.
Topaloğlu H; Faculty of Medicine, Department of Child Neurology, Hacettepe University, Ankara, Turkey.
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Źródło:
Acta neurologica Belgica [Acta Neurol Belg] 2021 Dec; Vol. 121 (6), pp. 1457-1462. Date of Electronic Publication: 2020 Mar 13.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Homozygote*
Exons/*genetics
Gene Duplication/*genetics
Receptors, Glutamate/*genetics
Spinocerebellar Degenerations/*diagnostic imaging
Spinocerebellar Degenerations/*genetics
Adolescent ; Child, Preschool ; Female ; Humans ; Pedigree ; Siblings
SCR Disease Name:
Sensorimotor neuropathy with ataxia, autosomal dominant
Czasopismo naukowe
Szczegóły
Tytuł:
Autosomal recessive Noonan-like syndrome caused by homozygosity for a previously unreported variant in SPRED2.
Autorzy:
Markholt S; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark. Electronic address: .
Andreasen L; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Bjerre J; Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Gregersen PA; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark; Centre for Rare Diseases, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
Andersen BN; Centre for Rare Diseases, Pediatrics and Adolescent Medicine, Aarhus University Hospital, Aarhus, Denmark.
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Źródło:
European journal of medical genetics [Eur J Med Genet] 2023 Feb; Vol. 66 (2), pp. 104695. Date of Electronic Publication: 2023 Jan 03.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Heart Defects, Congenital*
Intellectual Disability*/genetics
Noonan Syndrome*/genetics
Noonan Syndrome*/pathology
Humans ; Male ; Heterozygote ; Homozygote ; Phenotype ; Repressor Proteins/genetics ; Transcription Factors/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Generation of a homozygous ABCA7-knockout human iPSC line using the CRISPR/Cas9 system.
Autorzy:
Guan M; Chinese Academy of Sciences Key Laboratory of Brain Connectome and Manipulation, Shenzhen Key Laboratory of Translational Research for Brain Diseases, The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen-Hong Kong Institute of Brain Science-Shenzhen Fundamental Research Institutions, Shenzhen, China.
Chai Y; Chinese Academy of Sciences Key Laboratory of Brain Connectome and Manipulation, Shenzhen Key Laboratory of Translational Research for Brain Diseases, The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen-Hong Kong Institute of Brain Science-Shenzhen Fundamental Research Institutions, Shenzhen, China; University of Chinese Academy of Sciences, Beijing, China.
Yi R; Guangdong Provincial Key Laboratory of Brain Science, Disease and Drug Development, HKUST Shenzhen Research Institute, Shenzhen, China.
Chen Y; Chinese Academy of Sciences Key Laboratory of Brain Connectome and Manipulation, Shenzhen Key Laboratory of Translational Research for Brain Diseases, The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen-Hong Kong Institute of Brain Science-Shenzhen Fundamental Research Institutions, Shenzhen, China; University of Chinese Academy of Sciences, Beijing, China; Guangdong Provincial Key Laboratory of Brain Science, Disease and Drug Development, HKUST Shenzhen Research Institute, Shenzhen, China.
Ip JPK; School of Biomedical Sciences, The Chinese University of Hong Kong, Hong Kong Special Administrative Regions.
Ye T; Chinese Academy of Sciences Key Laboratory of Brain Connectome and Manipulation, Shenzhen Key Laboratory of Translational Research for Brain Diseases, The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen-Hong Kong Institute of Brain Science-Shenzhen Fundamental Research Institutions, Shenzhen, China; University of Chinese Academy of Sciences, Beijing, China; Guangdong Provincial Key Laboratory of Brain Science, Disease and Drug Development, HKUST Shenzhen Research Institute, Shenzhen, China. Electronic address: .
Chen Y; Chinese Academy of Sciences Key Laboratory of Brain Connectome and Manipulation, Shenzhen Key Laboratory of Translational Research for Brain Diseases, The Brain Cognition and Brain Disease Institute, Shenzhen Institute of Advanced Technology, Chinese Academy of Sciences, Shenzhen-Hong Kong Institute of Brain Science-Shenzhen Fundamental Research Institutions, Shenzhen, China; University of Chinese Academy of Sciences, Beijing, China; Guangdong Provincial Key Laboratory of Brain Science, Disease and Drug Development, HKUST Shenzhen Research Institute, Shenzhen, China. Electronic address: .
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Źródło:
Stem cell research [Stem Cell Res] 2023 Feb; Vol. 66, pp. 103000. Date of Electronic Publication: 2022 Dec 07.
Typ publikacji:
Journal Article
MeSH Terms:
Alzheimer Disease*/genetics
Induced Pluripotent Stem Cells*/metabolism
Humans ; CRISPR-Cas Systems/genetics ; Homozygote ; ATP-Binding Cassette Transporters/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Focal structural variants revealed by whole genome sequencing disrupt the histone demethylase KDM4C in B-cell lymphomas.
Autorzy:
Lopez C; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081, Germany; Institute of Human Genetics, Christian-Albrechts-University, Kiel, 24105.
Schleussner N; Max-Delbruck-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, 13125, Germany; Hematology, Oncology and Tumor Immunology, Charite - Universitatsmedizin Berlin, Berlin, 12200, Germany, and Experimental and Clinical Research Center, a joint cooperation between the MDC and the Charite, Berlin, 13125.
Bernhart SH; Interdisciplinary Center for Bioinformatics, University of Leipzig, Leipzig, 04107, Germany; Bioinformatics Group, Department of Computer, University of Leipzig, Leipzig, 04107, Germany; Transcriptome Bioinformatics, LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, 04107.
Kleinheinz K; Department for Bioinformatics and Functional Genomics, Institute of Pharmacy and Molecular Biotechnology and Bioquant, University of Heidelberg, Heidelberg, 69120.
Sungalee S; EMBL Heidelberg, Genome Biology Unit, Heidelberg, 69117.
Sczakiel HL; Max-Delbruck-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, 13125, Germany; Hematology, Oncology and Tumor Immunology, Charite - Universitatsmedizin Berlin, Berlin, 12200, Germany, and Experimental and Clinical Research Center, a joint cooperation between the MDC and the Charite, Berlin, 13125.
Kretzmer H; Interdisciplinary Center for Bioinformatics, University of Leipzig, Leipzig, 04107, Germany; Bioinformatics Group, Department of Computer, University of Leipzig, Leipzig, 04107, Germany; Transcriptome Bioinformatics, LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, 04107, Germany; Department of Genome Regulation, Max Planck Institute for Molecular Genetics, Berlin.
Toprak UH; Bioinformatics and Omics Data Analytics (B240), German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany; Faculty of Biosciences, Heidelberg University, Heidelberg, 69120, Germany; Hopp-Children's Cancer Center at the NCT Heidelberg (KiTZ), Division of Neuroblastoma Genomics (B087, German Cancer Research Center (DKFZ), Heidelberg, 69120.
Glaser S; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081.
Wagener R; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081, Germany; Institute of Human Genetics, Christian-Albrechts-University, Kiel, 24105.
Ammerpohl O; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081, Germany; Institute of Human Genetics, Christian-Albrechts-University, Kiel, 24105.
Bens S; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081, Germany; Institute of Human Genetics, Christian-Albrechts-University, Kiel, 24105.
Giefing M; Institute of Human Genetics, Christian-Albrechts-University, Kiel, 24105, Germany; Institute of Human Genetics, Polish Academy of Sciences, Poznan, 60-479, Poland.
Sanchez JCG; BioQuant and Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, 69120.
Apic G; BioQuant and Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, 69120.
Hubschmann D; German Cancer Consortium (DKTK), Heidelberg, 69120, Germany; Heidelberg Institute of Stem Cell Technology and Experimental Medicine (HI-STEM), Heidelberg, 69120, Germany; Computational Oncology, Molecular Precision Oncology Program, National Center for Tumor Diseases (NCT), German Cancer Research Center (DKFZ) and German Cancer Consortium (DKTK), Heidelberg, 69120.
Janz M; Max-Delbruck-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, 13125, Germany; Hematology, Oncology and Tumor Immunology, Charite - Universitatsmedizin Berlin, Berlin, 12200, Germany, and Experimental and Clinical Research Center, a joint cooperation between the MDC and the Charite, Berlin, 13125.
Kreuz M; Institute for Medical Informatics Statistics and Epidemiology, Leipzig, 04107.
Mottok A; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081.
Muller JM; Klinik für Urologie und Zentrale Klinische Forschung, Klinikum der Albert-Ludwigs-Universitat Freiburg, Freiburg, 79104.
Seufert J; Bioinformatics and Omics Data Analytics (B240), German Cancer Research Center (DKFZ), Heidelberg, 69120.
Hoffmann S; Interdisciplinary Center for Bioinformatics, University of Leipzig, Leipzig, 04107, Germany; Bioinformatics Group, Department of Computer, University of Leipzig, Leipzig, 04107, Germany; Transcriptome Bioinformatics, LIFE Research Center for Civilization Diseases, University of Leipzig, Leipzig, 04107, Germany; Leibniz Institute on Ageing-Fritz Lipmann Institute (FLI), Computational Biology, Jena, 07745.
Korbel JO; EMBL Heidelberg, Genome Biology Unit, Heidelberg, 69117.
Russell RB; BioQuant and Biochemie Zentrum Heidelberg (BZH), Heidelberg University, Heidelberg, 69120.
Schule R; Klinik für Urologie und Zentrale Klinische Forschung, Klinikum der Albert-Ludwigs-Universitat Freiburg, Freiburg, 79104, Germany; BIOSS Centre of Biological Signalling Studies, Albert-Ludwigs-University Freiburg, Freiburg, 79104.
Trumper L; Department of Hematology and Oncology, Georg-August-University of Gottingen, Gottingen, 37075.
Klapper W; Hematopathology Section, Christian-Albrechts-University, Kiel, 24105.
Radlwimmer B; Division of Molecular Genetics, German Cancer Research Center (DKFZ), 69120, Heidelberg.
Lichter P; Division of Molecular Genetics, German Cancer Research Center (DKFZ), 69120, Heidelberg.
Kuppers R; Institute of Cell Biology (Cancer Research), University of Duisburg-Essen, Essen, 45147, Germany, and German Cancer Consortium (DKTK).
Schlesner M; Bioinformatics and Omics Data Analytics (B240), German Cancer Research Center (DKFZ), Heidelberg, 69120, Germany; Biomedical Informatics, Data Mining and Data Analytics, Augsburg University, Augsburg, 86159.
Mathas S; Max-Delbruck-Center for Molecular Medicine in the Helmholtz Association (MDC), Berlin, 13125, Germany; Hematology, Oncology and Tumor Immunology, Charite - Universitatsmedizin Berlin, Berlin, 12200, Germany, and Experimental and Clinical Research Center, a joint cooperation between the MDC and the Charite, Berlin, 13125.
Siebert R; Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm, 89081, Germany; Institute of Human Genetics, Christian-Albrechts-University, Kiel, 24105.
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Źródło:
Haematologica [Haematologica] 2023 Feb 01; Vol. 108 (2), pp. 543-554. Date of Electronic Publication: 2023 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Lymphoma*/genetics
Lymphoma, B-Cell*/genetics
Humans ; Histones/metabolism ; Histone Demethylases/genetics ; Homozygote ; Sequence Deletion ; Whole Genome Sequencing ; RNA ; Jumonji Domain-Containing Histone Demethylases/genetics ; Jumonji Domain-Containing Histone Demethylases/chemistry ; Jumonji Domain-Containing Histone Demethylases/metabolism ; Histone-Lysine N-Methyltransferase/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Factor VII deficiency in China: Phenotype, genotype and current status of management.
Autorzy:
Qu C; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China.
Liu W; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China.
Chen L; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China.
Zhang L; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China.
Xue F; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China.
Yang R; State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Haihe Laboratory of Cell Ecosystem, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin Key Laboratory of Gene Therapy for Blood Diseases, CAMS Key Laboratory of Gene Therapy for Blood Diseases, Tianjin, China.
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Źródło:
British journal of haematology [Br J Haematol] 2023 Feb; Vol. 200 (3), pp. 344-352. Date of Electronic Publication: 2022 Oct 13.
Typ publikacji:
Journal Article
MeSH Terms:
Factor VII Deficiency*/genetics
Factor VII Deficiency*/therapy
Humans ; Female ; Genotype ; Factor VII/genetics ; Phenotype ; Homozygote ; Hemorrhage/genetics ; Hemorrhage/prevention & control
Czasopismo naukowe
Szczegóły
Tytuł:
Loss of H3K27 trimethylation in a distinct group of de-differentiated chordoma of the skull base.
Autorzy:
Makise N; Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo.
Shimoi T; Department of Medical Oncology, National Cancer Center Hospital, Tokyo.; Rare Cancer Center, National Cancer Center Hospital, Tokyo.
Sunami K; Department of Laboratory Medicine, National Cancer Center Hospital, Tokyo.
Aoyagi Y; Department of Precision Cancer Medicine, Center for Innovative Cancer Treatment, Tokyo Medical and Dental University, Tokyo.
Kobayashi H; Department of Orthopedic Surgery, Graduate School of Medicine, The University of Tokyo.
Tanaka S; Department of Neurosurgery, Graduate School of Medicine, The University of Tokyo.
Kawai A; Rare Cancer Center, National Cancer Center Hospital, Tokyo.; Department of Musculoskeletal Oncology, National Cancer Center Hospital, Tokyo.
Yonemori K; Department of Medical Oncology, National Cancer Center Hospital, Tokyo.; Rare Cancer Center, National Cancer Center Hospital, Tokyo.
Ushiku T; Department of Pathology, Graduate School of Medicine, The University of Tokyo, Tokyo.
Yoshida A; Rare Cancer Center, National Cancer Center Hospital, Tokyo.; Department of Diagnostic Pathology, National Cancer Center Hospital, Tokyo, Japan.
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Źródło:
Histopathology [Histopathology] 2023 Feb; Vol. 82 (3), pp. 420-430. Date of Electronic Publication: 2022 Oct 26.
Typ publikacji:
Journal Article
MeSH Terms:
Chordoma*/genetics
Neurofibrosarcoma*/metabolism
Bone Neoplasms*/metabolism
Middle Aged ; Male ; Humans ; Female ; Histones/metabolism ; Homozygote ; Biomarkers, Tumor/analysis ; DNA Methylation ; Sequence Deletion ; Cell Differentiation ; Skull Base/chemistry ; Skull Base/metabolism ; Skull Base/pathology
Czasopismo naukowe
Szczegóły
Tytuł:
Estimation of genetic variability and identification of regions under selection based on runs of homozygosity in Beijing-You Chickens.
Autorzy:
Wang H; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Wang Q; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Tan X; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Wang J; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Zhang J; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Zheng M; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Zhao G; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China.
Wen J; Chinese Academy of Agricultural Science, State Key Laboratory of Animal Nutrition, Beijing 100193, China. Electronic address: .
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Źródło:
Poultry science [Poult Sci] 2023 Feb; Vol. 102 (2), pp. 102342. Date of Electronic Publication: 2022 Nov 14.
Typ publikacji:
Journal Article
MeSH Terms:
Chickens*/genetics
Ecosystem*
Animals ; Beijing ; Homozygote ; Inbreeding ; Polymorphism, Single Nucleotide ; Genotype
Czasopismo naukowe
Szczegóły
Tytuł:
Clinical Features and Genetic Sequencing of Children with Fanconi-Bickel Syndrome.
Autorzy:
Govindarajan S; Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Kidney Diseases, All India Institute of Medical Sciences, New Delhi, 110029, India.
Khandelwal P; Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Kidney Diseases, All India Institute of Medical Sciences, New Delhi, 110029, India. .
Sharma S; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Agarwala A; Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Sinha A; Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Kidney Diseases, All India Institute of Medical Sciences, New Delhi, 110029, India.
Hari P; Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Kidney Diseases, All India Institute of Medical Sciences, New Delhi, 110029, India.
Bagga A; Division of Nephrology, Department of Pediatrics, ICMR Center for Advanced Research in Kidney Diseases, All India Institute of Medical Sciences, New Delhi, 110029, India.
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Źródło:
Indian journal of pediatrics [Indian J Pediatr] 2023 Feb; Vol. 90 (2), pp. 178-180. Date of Electronic Publication: 2022 Nov 03.
Typ publikacji:
Journal Article
MeSH Terms:
Fanconi Syndrome*/diagnosis
Fanconi Syndrome*/genetics
Rickets*
Humans ; Phenotype ; Homozygote
Czasopismo naukowe
Szczegóły
Tytuł:
Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia.
Autorzy:
Piatti G; Department of Pathophysiology and Transplantation, University of Milan and Unit of Bronchopneumology, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Ambrosetti U; Department of Clinical Sciences and Community Health, University of Milan and Division of Otolaryngology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Aldè M; Department of Clinical Sciences and Community Health, University of Milan and Division of Otolaryngology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
Girotto G; Department of Medicine, Surgery and Health Sciences, University of Trieste, Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
Concas MP; Institute for Maternal and Child Health-IRCCS 'Burlo Garofolo', Trieste, Italy.
Torretta S; Department of Clinical Sciences and Community Health, University of Milan and Division of Otolaryngology, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan, Italy.
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Źródło:
The Laryngoscope [Laryngoscope] 2023 Feb; Vol. 133 (2), pp. 248-254. Date of Electronic Publication: 2022 Mar 21.
Typ publikacji:
Journal Article
MeSH Terms:
Sinusitis*/complications
Sinusitis*/genetics
Nasal Polyps*
Ciliary Motility Disorders*/genetics
Rhinitis*/complications
Rhinitis*/genetics
Adult ; Humans ; Genotype ; Receptors, G-Protein-Coupled/genetics ; Homozygote ; Dysgeusia ; Chronic Disease
Czasopismo naukowe
Szczegóły
Tytuł:
A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.
Autorzy:
Mahmood A; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Samad A; Department of Biochemistry, Abdul Wali Khan University, Mardan, Pakistan.
Shah AA; Center for Medical Genetics and Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Wadood A; Department of Biochemistry, Abdul Wali Khan University, Mardan, Pakistan.
Alkathiri A; Medical Genetics, Laboratory Medicine Department, Faculty of Applied Medical Sciences, Albaha University, Albaha, Saudi Arabia.
Alshehri MA; Department of Clinical Laboratory Sciences, Faculty of Applied Medical Sciences, Najran University, Najran, Saudi Arabia.
Alam MZ; Pre-Clinical Research Unit, King Fahd Medical Research Center, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of Medical Laboratory Sciences, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.
Hussain T; Department of Cardiology, Medical Teaching Institute, Bacha Khan Medical Complex, Swabi, Pakistan.
He P; Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, China.
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.; Department of Life Sciences, School of Science, University of Management and Technology (UMT), Lahore, Pakistan.
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Źródło:
Clinical genetics [Clin Genet] 2023 Feb; Vol. 103 (2), pp. 219-225. Date of Electronic Publication: 2022 Oct 17.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Muscular Dystrophies, Limb-Girdle*/genetics
Humans ; Cell Adhesion Molecules/genetics ; Homozygote ; Membrane Proteins/genetics ; Muscle Proteins/genetics ; Muscle, Skeletal/metabolism ; Mutation, Missense/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Allogenic haematopoeitic stem cell transplant as cure for severe transfusion-dependent non-dominant hereditary spherocytosis due to homozygous SPTA1 mutation.
Autorzy:
Ramanathan S; Department of Paediatric Haematopoeitic Stem Cell Transplant, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Department of Paediatric and Adolescent Haematology and Oncology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Roberts W; Department of Paediatric Haematopoeitic Stem Cell Transplant, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Carey P; Department of Haematology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Marshall S; Department of Haematology, South Tyneside and Sunderland NHS Foundation Trust, Sunderland, UK.
Shenton G; Department of Paediatric and Adolescent Haematology and Oncology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Department of Paediatric and Adolescent Haematology and Oncology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Munoz-Diaz M; Department of Haematology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Biss T; Department of Haematology, The Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.
Skinner R; Department of Paediatric and Adolescent Haematology and Oncology, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Newcastle University Centre for Cancer, Newcastle University, Newcastle upon Tyne, UK.
Fuente J; Department of Paediatric Haematology and Bone Marrow Transplant, Imperial College Healthcare NHS Trust, London, UK.
Slatter M; Department of Paediatric Haematopoeitic Stem Cell Transplant, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
Lum SH; Department of Paediatric Haematopoeitic Stem Cell Transplant, Great North Children's Hospital, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.
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Źródło:
Pediatric blood & cancer [Pediatr Blood Cancer] 2023 Feb; Vol. 70 (2), pp. e29928. Date of Electronic Publication: 2022 Aug 11.
Typ publikacji:
Letter
MeSH Terms:
Spherocytosis, Hereditary*/genetics
Spherocytosis, Hereditary*/therapy
Humans ; Mutation ; Cytoskeletal Proteins/genetics ; Homozygote
Opinia redakcyjna
Szczegóły
Tytuł:
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss.
Autorzy:
Choi HJ; Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea.
Kanwal S; Department of Biosciences, COMSATS University Islamabad, Sahiwal, Pakistan.
Hameed R; DHQ Hospital Okara, Tehsil Road, Okara, Pakistan.
Tamanna N; Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea.
Perveen S; Department of Zoology, The Women University Multan, Multan, Punjab, Pakistan.
Mahreen H; Department of Zoology, The Women University Multan, Multan, Punjab, Pakistan.
Son W; Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea.
Lee KS; Department of Physics Education, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea.
Chung KW; Department of Biological Sciences, Kongju National University, 56 Gongjudaehak-ro, Gongju, 32588, Korea. .
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Źródło:
Genes & genomics [Genes Genomics] 2023 Feb; Vol. 45 (2), pp. 145-156. Date of Electronic Publication: 2022 Dec 06.
Typ publikacji:
Journal Article
MeSH Terms:
Deafness*/genetics
Humans ; Pakistan ; Mutation ; Homozygote ; Receptor-Like Protein Tyrosine Phosphatases, Class 3/genetics
SCR Disease Name:
Nonsyndromic Deafness
Czasopismo naukowe
Szczegóły
Tytuł:
The clinical features of OSTM1-associated malignant infantile osteopetrosis: A retrospective, single-center experience over one decade.
Autorzy:
Alotaibi Q; Pediatric Department, Aladan Hospital, Al-Masayel, Kuwait.
Dighe M; Pediatric Department, Aladan Hospital, Al-Masayel, Kuwait.
Aldaihani S; Pediatric Department, Aladan Hospital, Al-Masayel, Kuwait.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Feb; Vol. 191 (2), pp. 459-468. Date of Electronic Publication: 2022 Nov 11.
Typ publikacji:
Journal Article
MeSH Terms:
Osteopetrosis*/diagnosis
Osteopetrosis*/genetics
Osteopetrosis*/complications
Neurodegenerative Diseases*/genetics
Male ; Female ; Humans ; Child ; Infant ; Retrospective Studies ; Homozygote ; Sequence Deletion ; Membrane Proteins/genetics ; Ubiquitin-Protein Ligases/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Long-term hepatic safety of lomitapide in homozygous familial hypercholesterolaemia.
Autorzy:
Larrey D; University Hospital of Montpellier, Montpellier, France.
D'Erasmo L; Department of Translational and Precision Medicine, 'Sapienza' University, Rome, Italy.
O'Brien S; Amryt Pharmaceuticals DAC, Dublin, Ireland.
Arca M; Department of Translational and Precision Medicine, 'Sapienza' University, Rome, Italy.
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Corporate Authors:
Italian Working Group on Lomitapide
Źródło:
Liver international : official journal of the International Association for the Study of the Liver [Liver Int] 2023 Feb; Vol. 43 (2), pp. 413-423. Date of Electronic Publication: 2022 Dec 30.
Typ publikacji:
Clinical Trial, Phase III; Journal Article
MeSH Terms:
Anticholesteremic Agents*/adverse effects
Homozygous Familial Hypercholesterolemia*
Hyperlipoproteinemia Type II*/drug therapy
Hyperlipoproteinemia Type II*/chemically induced
Humans ; Biomarkers ; Cholesterol, LDL/therapeutic use ; Homozygote ; Liver ; Vitamins/therapeutic use
Czasopismo naukowe
Szczegóły
Tytuł:
Effect of cyclosporine A on focal segmental glomerulosclerosis caused by MYO1E mutation in a Chinese adult patient: A case report.
Autorzy:
Li R; Department of Nephrology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.; Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
Dong W; Department of Nephrology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
Chen Y; School of Medicine, South China University of Technology, Guangzhou, China.
Tang T; Guangdong Cardiovascular Institute, Guangdong Provincial People's Hospital, Guangdong Academy of Medical Sciences, Guangzhou, Guangdong, China.
Zhao X; Department of Nephrology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
Zhang L; Department of Nephrology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
Liang X; Department of Nephrology, Guangdong Provincial People's Hospital (Guangdong Academy of Medical Sciences), Southern Medical University, Guangzhou, Guangdong, China.
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Źródło:
Medicine [Medicine (Baltimore)] 2023 Jan 27; Vol. 102 (4), pp. e32683.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Cyclosporine*/therapeutic use
Glomerulosclerosis, Focal Segmental*/drug therapy
Glomerulosclerosis, Focal Segmental*/genetics
Male ; Adult ; Humans ; Glucocorticoids/therapeutic use ; East Asian People ; Homozygote ; Sequence Deletion ; Mutation ; Proteinuria/drug therapy
Czasopismo naukowe
Szczegóły
Tytuł:
A novel case of two siblings harbouring homozygous variant in the NEUROG1 gene with autism as an additional phenotype: a case report.
Autorzy:
Sheth F; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, 380015, Satellite, Ahmedabad, India. .
Shah J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, 380015, Satellite, Ahmedabad, India.
Patel K; Speciality Homeopathy Clinic, Ahmedabad, India.
Patel D; Charotar Institute of Paramedical Sciences, Charotar University of Science and Technology, Changa, Gujarat, India.
Jain D; Shishu Child Development and Early Intervention Centre, Ahmedabad, India.
Sheth J; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, 380015, Satellite, Ahmedabad, India.
Sheth H; FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, 380015, Satellite, Ahmedabad, India. .
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Źródło:
BMC neurology [BMC Neurol] 2023 Jan 16; Vol. 23 (1), pp. 20. Date of Electronic Publication: 2023 Jan 16.
Typ publikacji:
Review; Case Reports; Journal Article
MeSH Terms:
Autistic Disorder*/genetics
Autism Spectrum Disorder*
Humans ; Female ; Siblings ; Homozygote ; Phenotype ; Nerve Tissue Proteins/genetics ; Basic Helix-Loop-Helix Transcription Factors/genetics
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutational signature of extracranial meningioma metastases and their respective primary tumors.
Autorzy:
Biczok A; Department of Neurosurgery, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany. .; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany. .
Thorsteinsdottir J; Department of Neurosurgery, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany.; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany.
Karschnia P; Department of Neurosurgery, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany.; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany.
Ruf VC; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany.
Tonn JC; Department of Neurosurgery, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany.; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany.
Herms J; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany.; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany.
Schichor C; Department of Neurosurgery, Ludwig-Maximilians-University Munich, Marchioninistr. 15, 81377, Munich, Germany.; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany.
Dorostkar MM; Center for Neuropathology and Prion Research, Ludwig-Maximilians-University Munich, Munich, Germany.; German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Partner Site Munich, Heidelberg, Germany.; Department of Pathology, University Clinic of St. Pölten, Karl Landsteiner University of Health Sciences, St. Pölten, Austria.
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Jan 14; Vol. 11 (1), pp. 12. Date of Electronic Publication: 2023 Jan 14.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Meningeal Neoplasms*/genetics
Meningeal Neoplasms*/pathology
Meningioma*/genetics
Meningioma*/pathology
Neoplasm Metastasis*/genetics
Humans ; Homozygote ; Mutation ; Retrospective Studies ; Sequence Deletion
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Wyświetlanie 1-20 z 14269

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