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Wyszukujesz frazę ""Alleles"" wg kryterium: Temat


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Tytuł :
Drosophila carrying epilepsy-associated variants in the vitamin B6 metabolism gene PNPO display allele- and diet-dependent phenotypes.
Autorzy :
Chi W; Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637.; Department of Neurobiology, University of Chicago, Chicago, IL 60637.
Iyengar ASR; Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242.; Iowa Neuroscience Institute, University of Iowa, Iowa City, IA 52242.
Fu W; Department of Neurobiology, University of Chicago, Chicago, IL 60637.
Liu W; Department of Environmental Health, School of Public Health, China Medical University, Shenyang 110122, China.
Berg AE; Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242.
Wu CF; Department of Biology, College of Liberal Arts and Sciences, University of Iowa, Iowa City, IA 52242; .; Iowa Neuroscience Institute, University of Iowa, Iowa City, IA 52242.
Zhuang X; Committee on Genetics, Genomics and Systems Biology, University of Chicago, Chicago, IL 60637; .; Department of Neurobiology, University of Chicago, Chicago, IL 60637.; Grossman Institute for Neuroscience, Quantitative Biology and Human Behavior, University of Chicago, Chicago, IL 60637.
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Mar 01; Vol. 119 (9).
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Diet*
Phenotype*
Epilepsy/*genetics
Pyridoxaminephosphate Oxidase/*genetics
Vitamin B 6/*metabolism
Amino Acid Sequence ; Animals ; Drosophila melanogaster ; Humans ; Pyridoxaminephosphate Oxidase/chemistry ; Sequence Homology, Amino Acid
Czasopismo naukowe
Tytuł :
Comprehensive Analysis of CD4 T Cell Response Cross-Reactive to SARS-CoV-2 Antigens at the Single Allele Level of HLA Class II.
Autorzy :
Hyun YS; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea.; Department of Biomedicine and Health Sciences, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Lee YH; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea.; Department of Biomedicine and Health Sciences, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Jo HA; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea.; Department of Biomedicine and Health Sciences, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Baek IC; Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Kim SM; Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Sohn HJ; Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
Kim TG; Department of Microbiology, College of Medicine, The Catholic University of Korea, Seoul, South Korea.; Department of Biomedicine and Health Sciences, College of Medicine, The Catholic University of Korea, Seoul, South Korea.; Catholic Hematopoietic Stem Cell Bank, College of Medicine, The Catholic University of Korea, Seoul, South Korea.
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Źródło :
Frontiers in immunology [Front Immunol] 2022 Jan 06; Vol. 12, pp. 774491. Date of Electronic Publication: 2022 Jan 06 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Genes, MHC Class II*
Antigens, Viral/*immunology
CD4-Positive T-Lymphocytes/*immunology
COVID-19/*immunology
HLA-D Antigens/*genetics
SARS-CoV-2/*immunology
Adult ; Antigen-Presenting Cells/immunology ; Blood Donors ; COVID-19/virology ; Cells, Cultured ; Cross Reactions ; Enzyme-Linked Immunospot Assay/methods ; Female ; HLA-D Antigens/immunology ; Healthy Volunteers ; Humans ; Immunoglobulin Allotypes/immunology ; Male ; Young Adult
Czasopismo naukowe
Tytuł :
Identification of novel HLA alleles discovered in 2019-2021.
Autorzy :
Ingram KJ; HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States.
O'Shields EF; HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States.
Kiger DF; HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States.
Netherton EM; HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States.
Gautreaux MD; HLA/Immunogenetics and Immunodiagnostics Laboratories, Department of Pathology, Wake Forest School of Medicine, Winston-Salem, NC 27103, United States. Electronic address: .
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Źródło :
Human immunology [Hum Immunol] 2021 Dec; Vol. 82 (12), pp. 982-984. Date of Electronic Publication: 2021 Aug 20.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Exons*
HLA Antigens/*immunology
Female ; HLA Antigens/genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male
Czasopismo naukowe
Tytuł :
Tumor cell enrichment by tissue suspension enables detection of mutations with low variant allele frequency and estimation of germline mutations.
Autorzy :
Hatakeyama K; Medical Genetics Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan. .
Muramatsu K; Division of Pathology, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.
Nagashima T; Cancer Diagnostics Research Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.; SRL Inc, Shinjuku-ku, Tokyo, 163-0409, Japan.
Kawanishi Y; SRL & Shizuoka Cancer Center Collaborative Laboratories Inc, Sunto-gun, Shizuoka, 411-8777, Japan.
Fukumura R; SRL & Shizuoka Cancer Center Collaborative Laboratories Inc, Sunto-gun, Shizuoka, 411-8777, Japan.
Ohshima K; Medical Genetics Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.
Shimoda Y; Cancer Diagnostics Research Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.; SRL Inc, Shinjuku-ku, Tokyo, 163-0409, Japan.
Kenmotsu H; Division of Genetic Medicine Promotion, Shizuoka Cancer Center, Sunto-gun, Shizuoka, 411-8777, Japan.
Mochizuki T; Medical Genetics Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.
Urakami K; Cancer Diagnostics Research Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.
Akiyama Y; Immunotheraphy Division, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.
Sugino T; Division of Pathology, Shizuoka Cancer Center Research Institute, Sunto-gun, Shizuoka, 411-8777, Japan.
Yamaguchi K; Shizuoka Cancer Center, Sunto-gun, Shizuoka, 411-8777, Japan.
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Źródło :
Scientific reports [Sci Rep] 2022 Feb 22; Vol. 12 (1), pp. 2953. Date of Electronic Publication: 2022 Feb 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Gene Frequency*
Germ-Line Mutation*
High-Throughput Nucleotide Sequencing*
Stomach Neoplasms/*genetics
Female ; Humans ; Male ; Stomach Neoplasms/epidemiology
Czasopismo naukowe
Tytuł :
CYP2B6 allelic variants and non-genetic factors influence CYP2B6 enzyme function.
Autorzy :
Mangó K; Institute of Enzymology, Research Centre for Natural Sciences, Magyar Tudósok 2, Budapest, 1117, Hungary.; Doctoral School of Pharmaceutical Sciences, Semmelweis University, Budapest, Hungary.
Kiss ÁF; Institute of Enzymology, Research Centre for Natural Sciences, Magyar Tudósok 2, Budapest, 1117, Hungary.
Fekete F; Institute of Enzymology, Research Centre for Natural Sciences, Magyar Tudósok 2, Budapest, 1117, Hungary.
Erdős R; Institute of Enzymology, Research Centre for Natural Sciences, Magyar Tudósok 2, Budapest, 1117, Hungary.
Monostory K; Institute of Enzymology, Research Centre for Natural Sciences, Magyar Tudósok 2, Budapest, 1117, Hungary. .
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Źródło :
Scientific reports [Sci Rep] 2022 Feb 22; Vol. 12 (1), pp. 2984. Date of Electronic Publication: 2022 Feb 22.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Polymorphism, Genetic*
Cytochrome P-450 CYP2B6/*genetics
Cytochrome P-450 CYP2B6/*physiology
Gene Expression ; Genotype ; Humans ; Liver/enzymology ; Phenotype ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Whites
Czasopismo naukowe
Tytuł :
BrewerIX enables allelic expression analysis of imprinted and X-linked genes from bulk and single-cell transcriptomes.
Autorzy :
Martini P; Department of Biology, University of Padova, Padua, Italy.; Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy.
Sales G; Department of Biology, University of Padova, Padua, Italy.
Diamante L; Department of Molecular Medicine, Medical School, University of Padova, Padua, Italy.
Perrera V; Department of Molecular Medicine, Medical School, University of Padova, Padua, Italy.; International School for Advanced Studies (SISSA/ISAS), Trieste, 34136, Italy.
Colantuono C; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.
Riccardo S; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.
Cacchiarelli D; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.
Romualdi C; Department of Biology, University of Padova, Padua, Italy. .
Martello G; Department of Biology, University of Padova, Padua, Italy. .
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Źródło :
Communications biology [Commun Biol] 2022 Feb 17; Vol. 5 (1), pp. 146. Date of Electronic Publication: 2022 Feb 17.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Software*
Genes, X-Linked/*genetics
Transcriptome/*genetics
Animals ; Breast Neoplasms ; Gene Expression Regulation ; Humans ; Mice ; Single-Cell Analysis
Czasopismo naukowe
Tytuł :
New Insights on Rotenone Resistance of Complex I Induced by the m.11778G>A/ MT-ND4 Mutation Associated with Leber's Hereditary Optic Neuropathy.
Autorzy :
Musiani F; Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, I-40126 Bologna, Italy.
Rigobello L; Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, I-40126 Bologna, Italy.
Iommarini L; Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, I-40126 Bologna, Italy.
Carelli V; Dipartimento di Scienze Biomediche e Neuromotorie (DIBINEM), Università di Bologna, I-40100 Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, Programma di Neurogenetica, I-40139 Bologna, Italy.
Degli Esposti M; Center for Genomic Sciences, Universidad Nacional Autónoma de México (UNAM), Cuernavaca 62210, Mexico.
Ghelli AM; Dipartimento di Farmacia e Biotecnologie (FABIT), Università di Bologna, I-40126 Bologna, Italy.
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Źródło :
Molecules (Basel, Switzerland) [Molecules] 2022 Feb 16; Vol. 27 (4). Date of Electronic Publication: 2022 Feb 16.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Amino Acid Substitution*
Mutation*
Drug Resistance/*genetics
Electron Transport Complex I/*genetics
Optic Atrophy, Hereditary, Leber/*genetics
Rotenone/*pharmacology
Amino Acid Sequence ; Binding Sites ; Conserved Sequence ; Electron Transport Complex I/chemistry ; Electron Transport Complex I/metabolism ; Models, Molecular ; Optic Atrophy, Hereditary, Leber/metabolism ; Protein Binding ; Protein Conformation ; Rotenone/chemistry ; Structure-Activity Relationship ; Uncoupling Agents/pharmacology
Czasopismo naukowe
Tytuł :
Redefining tissue specificity of genetic regulation of gene expression in the presence of allelic heterogeneity.
Autorzy :
Arvanitis M; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21211, USA; Department of Medicine, Division of Cardiology, Johns Hopkins University, Baltimore, MD 21205, USA.
Tayeb K; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21211, USA.
Strober BJ; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21211, USA.
Battle A; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD 21211, USA; Department of Computer Science, Johns Hopkins University, Baltimore, MD 21211, USA; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD 21205, USA. Electronic address: .
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Źródło :
American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 223-239. Date of Electronic Publication: 2022 Jan 31.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Alleles*
Gene Expression Regulation*
Genetic Heterogeneity*
Genome, Human*
Multifactorial Inheritance*
Adipose Tissue/metabolism ; Bayes Theorem ; Chromosome Mapping ; Fibroblasts/metabolism ; Genome-Wide Association Study ; Heart Ventricles/metabolism ; Humans ; Linkage Disequilibrium ; Organ Specificity ; Quantitative Trait Loci ; Thyroid Gland/metabolism
Czasopismo naukowe
Tytuł :
Transcriptomic Mapping of Non-Small Cell Lung Cancer K-RAS p.G12C Mutated Tumors: Identification of Surfaceome Targets and Immunologic Correlates.
Autorzy :
Alcaraz-Sanabria A; Translational Oncology Laboratory, Centro Regional de Investigaciones Biomédicas, Castilla-La Mancha University (CRIB-UCLM), Albacete, Spain.
Cabañas Morafraile E; Experimental Therapeutics Unit, Medical Oncology Department, Hospital Clínico Universitario San Carlos (HCSC), Instituto de Investigación Sanitaria San Carlos (IdISSC) and Centro de Investigación Biomédica en Red en Oncología Centro (CIBERONC), Madrid, Spain.; Center for Biological Research Margarita Salas (CIB-CSIC), Spanish National Research Council, Madrid, Spain.
Fernández-Hinojal G; Experimental Therapeutics Unit, Medical Oncology Department, Hospital Clínico Universitario San Carlos (HCSC), Instituto de Investigación Sanitaria San Carlos (IdISSC) and Centro de Investigación Biomédica en Red en Oncología Centro (CIBERONC), Madrid, Spain.
Velasco G; Experimental Therapeutics Unit, Medical Oncology Department, Hospital Clínico Universitario San Carlos (HCSC), Instituto de Investigación Sanitaria San Carlos (IdISSC) and Centro de Investigación Biomédica en Red en Oncología Centro (CIBERONC), Madrid, Spain.; Department of Biochemistry and Molecular Biology, School of Biology, Complutense University, Madrid, Spain.
Pérez-Segura P; Experimental Therapeutics Unit, Medical Oncology Department, Hospital Clínico Universitario San Carlos (HCSC), Instituto de Investigación Sanitaria San Carlos (IdISSC) and Centro de Investigación Biomédica en Red en Oncología Centro (CIBERONC), Madrid, Spain.
Pandiella A; Instituto de Biología Molecular y Celular del Cáncer (IBMCC-CSIC), Instituto de Investigación Biomédica Salamanca (IBSAL) and Centro de Investigación Biomédica en Red en Oncología (CIBERONC), Salamanca, Spain.
Győrffy B; Department of Bioinformatics and 2nd Department of Paediatrics, Semmelweis University, Budapest, Hungary.; Research Centre for Natural Sciences (TTK) Lendület Cancer Biomarker Research Group, Institute of Enzymology, Budapest, Hungary.
Ocaña A; Translational Oncology Laboratory, Centro Regional de Investigaciones Biomédicas, Castilla-La Mancha University (CRIB-UCLM), Albacete, Spain.; Experimental Therapeutics Unit, Medical Oncology Department, Hospital Clínico Universitario San Carlos (HCSC), Instituto de Investigación Sanitaria San Carlos (IdISSC) and Centro de Investigación Biomédica en Red en Oncología Centro (CIBERONC), Madrid, Spain.
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Źródło :
Frontiers in immunology [Front Immunol] 2022 Feb 01; Vol. 12, pp. 786069. Date of Electronic Publication: 2022 Feb 01 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Mutation*
Transcriptome*
Carcinoma, Non-Small-Cell Lung/*genetics
Lung Neoplasms/*genetics
Proto-Oncogene Proteins p21(ras)/*genetics
Biomarkers, Tumor ; Carcinoma, Non-Small-Cell Lung/immunology ; Carcinoma, Non-Small-Cell Lung/mortality ; Carcinoma, Non-Small-Cell Lung/therapy ; Gene Expression Profiling ; Gene Expression Regulation, Neoplastic ; Humans ; Kaplan-Meier Estimate ; Lung Neoplasms/immunology ; Lung Neoplasms/mortality ; Lung Neoplasms/therapy ; Prognosis
Czasopismo naukowe
Tytuł :
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Autorzy :
Ticci C; Metabolic Disease Unit, Meyer Children's Hospital, Florence, Italy.
Nesti C; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Rubegni A; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Doccini S; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Baldacci J; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Dal Canto F; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
Ragni L; Paediatric Cardiology and ACHD Unit, S. Orsola Hospital, Bologna, Italy.
Cordelli DM; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.
Donati MA; Metabolic Disease Unit, Meyer Children's Hospital, Florence, Italy.
Santorelli FM; IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease Unit, Pisa, Italy.
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Źródło :
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 260-264. Date of Electronic Publication: 2021 Nov 22.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Genetic Association Studies*
Genetic Predisposition to Disease*
Mutation*
Phenotype*
Malate Dehydrogenase/*genetics
Child ; Child, Preschool ; DNA Mutational Analysis ; Genome, Mitochondrial ; Humans ; Infant ; Magnetic Resonance Imaging ; Neuroimaging ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Characterization of the novel HLA-DQA1*05:01:07 allele by sequencing-based typing.
Autorzy :
Blandin L; Histocompatibility and Immunogenetics Laboratory, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.
Ralazamahaleo M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.
Guidicelli G; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.
Rouzaire P; Histocompatibility and Immunogenetics Laboratory, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Clermont-Auvergne University, Clermont-Ferrand, France.
Lemal R; Histocompatibility and Immunogenetics Laboratory, Clermont-Ferrand University Hospital, Clermont-Ferrand, France.; Clermont-Auvergne University, Clermont-Ferrand, France.
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Źródło :
HLA [HLA] 2022 Feb; Vol. 99 (2), pp. 138-139. Date of Electronic Publication: 2021 Nov 24.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Exons/genetics ; HLA-DQ alpha-Chains/genetics ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Characterization of the novel HLA-DQA1*05:49 allele by sequencing-based typing.
Autorzy :
Cargou M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.
Andreani M; Laboratorio d'Immunogenetica dei Trapianti, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Galluccio T; Laboratorio d'Immunogenetica dei Trapianti, IRCCS Ospedale Pediatrico Bambino Gesù, Rome, Italy.
Ralazamahaleo M; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.
Visentin J; CHU de Bordeaux, Laboratoire d'Immunologie et Immunogénétique, Hôpital Pellegrin, Bordeaux, France.; University of Bordeaux, CNRS, ImmunoConcEpT, Bordeaux, France.
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Źródło :
HLA [HLA] 2022 Feb; Vol. 99 (2), pp. 140-141. Date of Electronic Publication: 2021 Dec 02.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Exons/genetics ; HLA-DQ alpha-Chains/genetics ; Humans ; Sequence Analysis, DNA
Czasopismo naukowe
Tytuł :
Biallelic ZNFX1 variants are associated with a spectrum of immuno-hematological abnormalities.
Autorzy :
Alawbathani S; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Westenberger A; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.
Ordonez-Herrera N; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Al-Hilali M; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Al Hebby H; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Alabbas F; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Alhashem AM; Division of Pediatric Genetics, Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Elyamany G; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Beirut, Lebanon.; Division of Medical Genetics, Institut Jerome Lejeune, Paris, France.
Kose M; Department of Pediatrics, Division of Inborn Errors of Metabolism, Izmir Katip Çelebi University Medical Faculty, Izmir, Turkey.; Ege University Medical Faculty, Department of Pediatrics, Division of Genetics, Izmir, Turkey.
Alhashmi N; Clinical and Biochemical Genetics Department, Child Health Department, Royal Hospital, Muscat, Oman.
Al Sukaiti N; Allergy and Clinical Immunology Department, Child Health Department, Royal Hospital, Muscat, Oman.
Al-Raqad M; Al-Balqa Applied University, Faculty of Medicine, Al-Salt, Jordan.
Al-Tawalbeh S; Queen Rania Al-Abdulla Children Hospital, King Hussein Medical Center, Amman, Jordan.
Abu Adas Blanco O; Clinical Genetics department, The Genome Outpost, Amman, Jordan.
Alkhattabi F; College of Medicine at Alfaisal University, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Sng D; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore.
Al-Ali R; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Khan S; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Tawamie H; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Tripolszki K; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Karageorgou V; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Trunzo R; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Al Mutairi F; King Abdullah International Medical Research Center, King Saud bin Abdulaziz University for Health Sciences, MNGHA, Riyadh, Saudi Arabia.; Genetics & Precision Medicine Department, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia.
Reversade B; Laboratory of Human Genetics and Therapeutics, Genome Institute of Singapore, A*STAR, Singapore.
Bauer P; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
Bertoli-Avella AM; Genomic Research & Medical Reporting, CENTOGENE GmbH, Rostock, Germany.
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Źródło :
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 247-254. Date of Electronic Publication: 2021 Nov 06.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Mutation*
Antigens, Neoplasm/*genetics
Hematologic Diseases/*diagnosis
Hematologic Diseases/*genetics
Primary Immunodeficiency Diseases/*diagnosis
Primary Immunodeficiency Diseases/*genetics
Chromosome Mapping ; Computational Biology/methods ; DNA Mutational Analysis ; Databases, Genetic ; Facies ; Genetic Association Studies ; Genetic Predisposition to Disease ; Homozygote ; Humans ; Pedigree ; Phenotype
Czasopismo naukowe
Tytuł :
Mono-allelic loss of YTHDF3 and neurodevelopmental disorder: clinical features of four individuals with 8q12.3 deletions.
Autorzy :
Terkelsen T; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Human Genetics, Department of Clinical Research, University of Southern Denmark, Odense, Denmark.
Illum N; H. C. Andersen Children's Hospital, Odense University Hospital, Odense, Denmark.
Busa T; Département de Génétique Médicale, CHU de Marseille-Hôpital de la Timone, Marseille, France.
Missirian C; Département de Génétique Médicale, CHU de Marseille-Hôpital de la Timone, Marseille, France.
Chandler K; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.
Holden ST; Department of Clinical Genetics, Addenbrooke's Hospital, Cambridge, UK.
Jensen UB; Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark.
Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Affiliated Member of European Reference Network, ERN-ITHACA.
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Źródło :
Clinical genetics [Clin Genet] 2022 Feb; Vol. 101 (2), pp. 208-213. Date of Electronic Publication: 2021 Nov 15.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
Chromosome Deletion*
Chromosomes, Human, Pair 8*
Genetic Predisposition to Disease*
Neurodevelopmental Disorders/*diagnosis
Neurodevelopmental Disorders/*genetics
RNA-Binding Proteins/*genetics
Adolescent ; Child ; Female ; Genetic Association Studies ; Humans ; Loss of Heterozygosity ; Male ; Phenotype ; Young Adult
Czasopismo naukowe
Tytuł :
Discovery of the HLA-C*03:561 allele, a variant of HLA-C*03, in a Chinese individual.
Autorzy :
Zhong YP; Immunogenetic Laboratory, Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, China.
Zou HY; Immunogenetic Laboratory, Shenzhen Institute of Transfusion Medicine, Shenzhen Blood Center, Shenzhen, China.
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Źródło :
HLA [HLA] 2022 Feb; Vol. 99 (2), pp. 127-129. Date of Electronic Publication: 2021 Sep 06.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
HLA-C Antigens*/genetics
High-Throughput Nucleotide Sequencing*
China ; Genes, MHC Class I ; Humans
Czasopismo naukowe
Tytuł :
Expression and proteolytic processing of the amyloid precursor protein is unaffected by the expression of the three human apolipoprotein E alleles in the brains of mice.
Autorzy :
Novy MJ; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA.
Newbury SF; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA.
Liemisa B; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA.
Morales-Corraliza J; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA; Department of Psychiatry, New York University Langone Health, New York, NY, USA.
Alldred MJ; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA; Department of Psychiatry, New York University Langone Health, New York, NY, USA.
Ginsberg SD; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA; Department of Psychiatry, New York University Langone Health, New York, NY, USA; NYU Neuroscience Institute, New York University Langone Health, New York, NY, USA; Department of Neuroscience and Physiology, New York University Langone Health, New York, NY, USA.
Mathews PM; Center for Dementia Research, Nathan S. Kline Institute, Orangeburg, NY, USA; Department of Psychiatry, New York University Langone Health, New York, NY, USA; NYU Neuroscience Institute, New York University Langone Health, New York, NY, USA. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2022 Feb; Vol. 110, pp. 73-76. Date of Electronic Publication: 2021 Oct 30.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
Alleles*
Gene Expression*
Genotype*
Proteolysis*
Alzheimer Disease/*genetics
Amyloid beta-Protein Precursor/*genetics
Amyloid beta-Protein Precursor/*metabolism
Apolipoproteins E/*genetics
Apolipoproteins E/*metabolism
Brain/*metabolism
Animals ; Female ; Humans ; Male ; Mice, Inbred C57BL ; Risk
Czasopismo naukowe
Tytuł :
Association of HLA-DRB1 Alleles with Rheumatic Fever and Rheumatic Heart Disease: A Meta-analysis.
Autorzy :
Poomarimuthu M; Multidisciplinary Research Unit, Madurai Medical College, Madurai, India.
Ramasamy T; Maternal-Child Health Center, Translational Health Science and Technology Institute, Faridabad, India.; Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, India.
Govindan R; Multidisciplinary Research Unit, Madurai Medical College, Madurai, India.
Andiappan R; Department of Cardio Vascular Thoracic Surgery, Madurai Medical College & Government Rajaji Hospital, Madurai, India.
Nagarajan G; Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, India.
Kadiam S; Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, India.
Mariakuttikan J; Department of Immunology, School of Biological Sciences, Madurai Kamaraj University, Madurai, India.
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Źródło :
Immunological investigations [Immunol Invest] 2022 Feb; Vol. 51 (2), pp. 221-232. Date of Electronic Publication: 2020 Sep 23.
Typ publikacji :
Journal Article; Meta-Analysis
MeSH Terms :
Alleles*
Rheumatic Fever*/genetics
Rheumatic Heart Disease*/genetics
HLA-DRB1 Chains/*genetics
Gene Frequency ; Genes, MHC Class II ; Genetic Predisposition to Disease ; HLA-DQ beta-Chains ; Humans
Czasopismo naukowe
Tytuł :
Interlukin-27 rs153109 polymorphism confers the susceptibility and prognosis of aplastic anemia in Chinese population.
Autorzy :
Yu W; Department of International Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.
Yang W; Department of International Medicine, The Affiliated Hospital of Qingdao University, Qingdao, China.
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Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2022 Feb; Vol. 44 (1), pp. 150-156. Date of Electronic Publication: 2021 Sep 15.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Genetic Predisposition to Disease*
Polymorphism, Single Nucleotide*
Anemia, Aplastic/*epidemiology
Anemia, Aplastic/*genetics
Interleukins/*genetics
Anemia, Aplastic/diagnosis ; Biomarkers ; Case-Control Studies ; China/epidemiology ; Gene Frequency ; Genetic Association Studies ; Genotype ; Humans ; Interleukins/blood ; Kaplan-Meier Estimate ; Population Surveillance ; Prognosis ; Severity of Illness Index
Czasopismo naukowe
Tytuł :
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
Autorzy :
Agrawal N; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Kumar R; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Masih S; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Srivastava P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Singh P; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Jaiswal SK; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Moirangthem A; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Saxena D; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
Mandal K; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India.
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Źródło :
International journal of laboratory hematology [Int J Lab Hematol] 2022 Feb; Vol. 44 (1), pp. 186-192. Date of Electronic Publication: 2021 Sep 29.
Typ publikacji :
Journal Article
MeSH Terms :
Alleles*
Mutation*
Factor IX/*genetics
Hemophilia B/*diagnosis
Hemophilia B/*genetics
Amino Acid Sequence ; Amino Acid Substitution ; Cross-Sectional Studies ; DNA Mutational Analysis ; Factor IX/chemistry ; Family ; Genetic Association Studies ; Genotype ; Hemophilia B/blood ; Humans ; India ; Models, Molecular ; Phenotype ; Protein Conformation ; Retrospective Studies ; Structure-Activity Relationship
Czasopismo naukowe
Tytuł :
Sex-specific splicing of Z- and W-borne nr5a1 alleles suggests sex determination is controlled by chromosome conformation.
Autorzy :
Zhang X; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Wagner S; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Holleley CE; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.; Australian National Wildlife Collection, Commonwealth Scientific and Industrial Research Organisation, Crace, ACT 2911, Australia.
Deakin JE; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Matsubara K; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Deveson IW; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, NSW 2010, Australia.; School of Biotechnology and Biomolecular Sciences, Faculty of Science, University of New South Wales, Sydney, NSW 2052, Australia.
O'Meally D; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Patel HR; Genome Sciences Department, John Curtin School of Medical Research, Australian National University, Canberra, ACT 2601, Australia.
Ezaz T; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Li Z; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Wang C; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Edwards M; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia.
Graves JAM; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia; .; School of Life Sciences, La Trobe University, Bundoora, VIC 3186, Australia.
Georges A; Institute for Applied Ecology, University of Canberra, Bruce, ACT 2617, Australia; .
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Źródło :
Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2022 Jan 25; Vol. 119 (4).
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Alleles*
RNA Splicing*
Sex Determination Processes*
Chromosomes/*genetics
Steroidogenic Factor 1/*genetics
Amino Acid Sequence ; Animals ; Chromosomes/chemistry ; Female ; Gene Dosage ; Lizards ; Male ; Models, Molecular ; Molecular Conformation ; Protein Conformation ; Reptiles ; Sex Chromosomes ; Sex Factors ; Steroidogenic Factor 1/chemistry ; Structure-Activity Relationship
Czasopismo naukowe

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