Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ

Wyszukujesz frazę ""Homozygote"" wg kryterium: Temat


Tytuł :
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse.
Autorzy :
Shen Q; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Martinez G; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France.
Liu H; Center for Reproductive Medicine, Cheeloo College of Medicine, Shandong University, Jinan, 250012, China.
Beurois J; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.
Wu H; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Amiri-Yekta A; Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran.
Liang D; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Kherraf ZE; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France.
Bidart M; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; Unité Médicale de Génétique Moléculaire: Maladies Héréditaires et Oncologie, Pôle Biologie, Institut de Biologie et de Pathologie, CHU Grenoble Alpes, 38000, Grenoble, France.
Cazin C; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.
Celse T; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France.
Satre V; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France.
Thierry-Mieg N; Université Grenoble Alpes, CNRS UMR 5525, TIMC-IMAG/BCM, 38000, Grenoble, France.
Whitfield M; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.
Touré A; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.
Song B; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Lv M; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Li K; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Liu C; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, 200011, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China.
Tao F; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
He X; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China.; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China.; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China.
Zhang F; Obstetrics and Gynecology Hospital, NHC Key Laboratory of Reproduction Regulation (Shanghai Institute of Planned Parenthood Research), State Key Laboratory of Genetic Engineering at School of Life Sciences, Fudan University, Shanghai, 200011, China.; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai, 200011, China.
Arnoult C; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.
Ray PF; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France.; CHU Grenoble Alpes, UM GI-DPI, 38000, Grenoble, France.
Cao Y; Reproductive Medicine Center, Human Sperm Bank, Department of Obstetrics and Gynecology, the First Affiliated Hospital of Anhui Medical University, Hefei, 230022, China. .; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), Hefei, 230032, China. .; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, Hefei, 230032, China. .
Coutton C; Université Grenoble Alpes, INSERM U1209, CNRS UMR 5309, Institute for Advanced Biosciences, Team Genetics Epigenetics and Therapies of Infertility, 38000, Grenoble, France. .; CHU Grenoble Alpes, UM de Génétique Chromosomique, 38000, Grenoble, France. .; Laboratoire de Génétique Chromosomique, Hôpital Couple-Enfant, CHU de Grenoble, 38043, Grenoble, France. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2021 Sep; Vol. 140 (9), pp. 1367-1377. Date of Electronic Publication: 2021 Jul 13.
Typ publikacji :
Journal Article
MeSH Terms :
Cytoskeletal Proteins*/genetics
Cytoskeletal Proteins*/metabolism
Frameshift Mutation*
Homozygote*
Infertility, Male*/genetics
Infertility, Male*/metabolism
Sperm Tail/*metabolism
Animals ; Calcium-Binding Proteins/genetics ; Calcium-Binding Proteins/metabolism ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Humans ; Male ; Mice
Czasopismo naukowe
Tytuł :
Diversity analysis, runs of homozygosity and genomic inbreeding reveal recent selection in Blanco Orejinegro cattle.
Autorzy :
Caivio-Nasner S; Grupo de Investigación Biomolecular y Pecuaria (BIOPEC), Universidad Tecnológica de Pereira, Pereira, Colombia.
López-Herrera A; Universidad Nacional de Colombia sede Medellín, Medellín, Colombia.; Grupo de investigación Biodiversidad y Genética Molecular (BIOGEM), Universidad Nacional de Colombia, Bogotá, Colombia.
González-Herrera LG; Universidad Nacional de Colombia sede Medellín, Medellín, Colombia.; Grupo de investigación Biodiversidad y Genética Molecular (BIOGEM), Universidad Nacional de Colombia, Bogotá, Colombia.
Rincón JC; Grupo de investigación Biodiversidad y Genética Molecular (BIOGEM), Universidad Nacional de Colombia, Bogotá, Colombia.; Universidad Nacional de Colombia sede Palmira, Palmira, Colombia.
Pokaż więcej
Źródło :
Journal of animal breeding and genetics = Zeitschrift fur Tierzuchtung und Zuchtungsbiologie [J Anim Breed Genet] 2021 Sep; Vol. 138 (5), pp. 613-627. Date of Electronic Publication: 2021 Mar 30.
Typ publikacji :
Journal Article
MeSH Terms :
Cattle*/genetics
Homozygote*
Inbreeding*
Animals ; Genomics ; Genotype ; Quantitative Trait Loci
Czasopismo naukowe
Tytuł :
ZNF668 deficiency causes a recognizable disorder of DNA damage repair.
Autorzy :
Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Al Ali H; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Faqeih E; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, 11525, Saudi Arabia.
Ramadan SM; Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia.
Barth M; Department of Biochemistry and Genetics, Angers University Hospital, and UMR INSERM 1083, CNRS 6015, Angers, France.
Colin E; Department of Biochemistry and Genetics, Angers University Hospital, and UMR INSERM 1083, CNRS 6015, Angers, France.
Prouteau C; Department of Biochemistry and Genetics, Angers University Hospital, and UMR INSERM 1083, CNRS 6015, Angers, France.
Bonneau D; Department of Biochemistry and Genetics, Angers University Hospital, and UMR INSERM 1083, CNRS 6015, Angers, France.
Ziegler A; Department of Biochemistry and Genetics, Angers University Hospital, and UMR INSERM 1083, CNRS 6015, Angers, France.
Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, 11211, Saudi Arabia. .; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia. .
Pokaż więcej
Źródło :
Human genetics [Hum Genet] 2021 Sep; Vol. 140 (9), pp. 1395-1401. Date of Electronic Publication: 2021 Jul 27.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
DNA Damage*
Genes, Recessive*
Homozygote*
Abnormalities, Multiple/*genetics
Tumor Suppressor Proteins/*deficiency
Abnormalities, Multiple/pathology ; Child ; Humans ; Male
Czasopismo naukowe
Tytuł :
Identification of unique ROH regions with unfavorable effects on production and fertility traits in Canadian Holsteins.
Autorzy :
Makanjuola BO; Centre for Genomic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON, N1G 2W1, Canada. .
Maltecca C; Centre for Genomic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON, N1G 2W1, Canada.; Department of Animal Science and Genetics Program, North Carolina State University, Raleigh, NC, 27607, USA.
Miglior F; Centre for Genomic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON, N1G 2W1, Canada.
Marras G; Semex Alliance, Guelph, ON, N1H 6J2, Canada.
Abdalla EA; Centre for Genomic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON, N1G 2W1, Canada.
Schenkel FS; Centre for Genomic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON, N1G 2W1, Canada.
Baes CF; Centre for Genomic Improvement of Livestock, Department of Animal Biosciences, University of Guelph, Guelph, ON, N1G 2W1, Canada.; Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001, Bern, Switzerland.
Pokaż więcej
Źródło :
Genetics, selection, evolution : GSE [Genet Sel Evol] 2021 Aug 30; Vol. 53 (1), pp. 68. Date of Electronic Publication: 2021 Aug 30.
Typ publikacji :
Journal Article
MeSH Terms :
Homozygote*
Cattle/*genetics
Fertility/*genetics
Alleles ; Animals ; Canada ; Female ; Inbreeding ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł :
A Novel Germline Mutation of ADA2 Gene in Two "Discordant" Homozygous Female Twins Affected by Adenosine Deaminase 2 Deficiency: Description of the Bone-Related Phenotype.
Autorzy :
Vai S; Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy.
Marin E; Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy.
Cosso R; IRCCS, Istituto Auxologico Italiano, San Giuseppe Hospital, 28824 Verbania, Italy.
Saettini F; Department of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, Italy.
Bonanomi S; Department of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, Italy.
Cattoni A; Department of Pediatrics, Università degli Studi di Milano-Bicocca, Fondazione MBBM, San Gerardo Hospital, 20100 Monza, Italy.
Chiodini I; Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy.; Department of Medical Biotechnologies and Translational Medicine, University of Milan, 20122 Milan, Italy.
Persani L; Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy.; Department of Medical Biotechnologies and Translational Medicine, University of Milan, 20122 Milan, Italy.
Falchetti A; Department of Endocrine and Metabolic Diseases, IRCCS, Istituto Auxologico Italiano, 20145 Milan, Italy.; IRCCS, Istituto Auxologico Italiano, San Giuseppe Hospital, 28824 Verbania, Italy.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Aug 03; Vol. 22 (15). Date of Electronic Publication: 2021 Aug 03.
Typ publikacji :
Case Reports; Journal Article; Twin Study
MeSH Terms :
Genetic Predisposition to Disease*
Germ-Line Mutation*
Homozygote*
Phenotype*
Adenosine Deaminase/*genetics
Agammaglobulinemia/*pathology
Intercellular Signaling Peptides and Proteins/*genetics
Severe Combined Immunodeficiency/*pathology
Adult ; Agammaglobulinemia/genetics ; Female ; Humans ; Male ; Pedigree ; Severe Combined Immunodeficiency/genetics
SCR Disease Name :
Severe combined immunodeficiency due to adenosine deaminase deficiency
Czasopismo naukowe
Tytuł :
Complete CD95/FAS deficiency due to complex homozygous germline TNFRSF6 mutations in an adult patient with mild autoimmune lymphoproliferative syndrome (ALPS).
Autorzy :
Tessarin G; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Mazza C; Medical Genetics Laboratory, ASST-Spedali Civili, Brescia, Italy.
Baronio M; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Gazzurelli L; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Rossi S; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Moratto D; Flow Cytometry Unit, Clinical Chemistry Laboratory, ASST Spedali Civili di Brescia, Brescia, Italy.
Badolato R; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Rensing-Ehl A; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
Ehl S; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
Warnatz K; Center for Chronic Immunodeficiency, Medical Center, University of Freiburg, Freiburg, Germany.
Rosanelli C; Hematology and Bone Marrow Transplantation Unit, Alto Adige Hospital, Bolzano, Italy.
Morello E; Bone Marrow Transplant Unit, ASST-Spedali Civili Brescia, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Plebani A; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy.
Lougaris V; Pediatrics Clinic and Institute of Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST- Spedali Civili of Brescia, Brescia, Italy. Electronic address: .
Pokaż więcej
Źródło :
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2021 Jul; Vol. 228, pp. 108757. Date of Electronic Publication: 2021 May 13.
Typ publikacji :
Letter; Research Support, Non-U.S. Gov't
MeSH Terms :
Germ-Line Mutation*
Homozygote*
Autoimmune Lymphoproliferative Syndrome/*etiology
fas Receptor/*deficiency
Autoimmune Lymphoproliferative Syndrome/diagnosis ; Autoimmune Lymphoproliferative Syndrome/metabolism ; Autoimmune Lymphoproliferative Syndrome/therapy ; Biomarkers ; Disease Susceptibility ; Genetic Predisposition to Disease ; Hematopoietic Stem Cell Transplantation ; High-Throughput Nucleotide Sequencing ; Humans ; T-Lymphocytes/immunology ; T-Lymphocytes/metabolism
Raport
Tytuł :
Defective neutrophil development and specific granule deficiency caused by a homozygous splice-site mutation in SMARCD2.
Autorzy :
Schim van der Loeff I; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Sprenkeler EGG; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Tool ATJ; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Abinun M; Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom.
Grainger A; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
Engelhardt KR; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom.
van Houdt M; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Janssen H; Division of Biochemistry, The Netherlands Cancer Institute, Amsterdam, The Netherlands.
Kuijpers TW; Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Emma Children's Hospital, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
Hambleton S; Immunity & Inflammation Theme, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital (GNCH), Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, United Kingdom. Electronic address: .
Pokaż więcej
Źródło :
The Journal of allergy and clinical immunology [J Allergy Clin Immunol] 2021 Jun; Vol. 147 (6), pp. 2381-2385.e2. Date of Electronic Publication: 2020 Dec 03.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Homozygote*
Mutation*
RNA Splice Sites*
Cell Differentiation/*genetics
Chromosomal Proteins, Non-Histone/*genetics
Lactoferrin/*deficiency
Leukocyte Disorders/*etiology
Neutrophils/*metabolism
Biomarkers ; Cell Differentiation/immunology ; Chemotaxis, Leukocyte/genetics ; Chemotaxis, Leukocyte/immunology ; Cytotoxicity, Immunologic ; Female ; Genetic Predisposition to Disease ; Humans ; Immunophenotyping ; Infant, Newborn ; Leukocyte Disorders/diagnosis ; NADPH Oxidases/metabolism ; Neutrophils/pathology ; Neutrophils/ultrastructure ; Pedigree ; Phenotype ; Respiratory Burst/genetics ; Respiratory Burst/immunology
SCR Disease Name :
Specific Granule Deficiency
Czasopismo naukowe
Tytuł :
Severe systemic thrombosis in a young COVID-19 patient with a rare homozygous prothrombin G20210A mutation.
Autorzy :
Fiore JR; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.
Ciarallo M; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.
Di Stefano M; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy; Department of Clinical and Experimental Medicine, Section of Genetics, University of Foggia, Foggia, Italy.
Sica S; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.
Scarale M; 'Ospedali Riuniti' University Hospital, Section of Radiology, Foggia, Italy.
D'Errico M; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.
Corallo F; 'Ospedali Riuniti' University Hospital, Section of Radiology, Foggia, Italy.
Lo Caputo S; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.
Margaglione M; Department of Clinical and Experimental Medicine, Section of Genetics, University of Foggia, Foggia, Italy.
Santantonio T; Department of Clinical and Experimental Medicine, Infectious Diseases Unit, University of Foggia, Foggia, Italy.
Pokaż więcej
Źródło :
Le infezioni in medicina [Infez Med] 2021 Jun 01; Vol. 29 (2), pp. 259-262.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Homozygote*
COVID-19/*complications
Prothrombin/*genetics
Thrombophilia/*genetics
Venous Thrombosis/*genetics
Adult ; COVID-19/blood ; COVID-19/diagnostic imaging ; Humans ; Pulmonary Artery/diagnostic imaging ; Pulmonary Embolism/diagnostic imaging ; Tomography, X-Ray Computed
Czasopismo naukowe
Tytuł :
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Autorzy :
Brodehl A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Meshkov A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Myasnikov R; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Kiseleva A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Kulikova O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Klauke B; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Sotnikova E; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Stanasiuk C; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Divashuk M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Pohl GM; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Kudryavtseva M; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Klingel K; Cardiopathology, Institute for Pathology and Neuropathology, University Hospital Tuebingen, Liebemeister-strasse 8, 72076 Tuebingen, Germany.
Gerull B; Comprehensive Heart Failure Center (CHFC) and Department of Internal Medicine I, University Hospital Würzburg, 97080 Würzburg, Germany.
Zharikova A; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Gummert J; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.; Clinic for Thoracic and Cardiovascular Surgery, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Koretskiy S; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Schubert S; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Mershina E; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Gärtner A; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Pilus P; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Laser KT; Center for Congenital Heart Defects, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Sinitsyn V; Medical Research and Educational Center, Lomonosov Moscow State University, Lomonosovsky Prospect 27, Building 10, 119991 Moscow, Russia.
Boytsov S; National Medical Research Center for Cardiology, 3-ya Cherepkovskaya Street 15A, 121552 Moscow, Russia.
Drapkina O; National Medical Research Center for Therapy and Preventive Medicine, Petroverigsky per., 10, bld. 3, 101000 Moscow, Russia.
Milting H; Erich and Hanna Klessmann Institute, Heart and Diabetes Center NRW, University Hospital of the Ruhr-University Bochum, Georgstrasse 11, 32545 Bad Oeynhausen, Germany.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 06; Vol. 22 (7). Date of Electronic Publication: 2021 Apr 06.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Hemizygote*
Homozygote*
Loss of Function Mutation*
Polymorphism, Single Nucleotide*
Arrhythmogenic Right Ventricular Dysplasia/*genetics
Desmoglein 2/*genetics
Arrhythmogenic Right Ventricular Dysplasia/diagnostic imaging ; Female ; Humans ; Male
Czasopismo naukowe
Tytuł :
Diagnostic yield of additional exome sequencing after the detection of long continuous stretches of homozygosity (LCSH) in SNP arrays.
Autorzy :
Fan Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. .; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. .; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, 200092, China. .
Wang L; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Sun Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, 200092, China.
Xu T; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Gong Z; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Zhao Q; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Qiu W; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Liang L; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Xiao B; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Zhang H; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Han L; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Lin F; Department of Nephrology, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Xu R; Scientific Research Center, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Gu X; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China.
Yu Y; Department of Pediatric Endocrinology and Genetics, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. .; Clinical Genetics Center, Shanghai Institute for Pediatric Research, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200092, China. .; Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai, 200092, China. .
Pokaż więcej
Źródło :
Journal of human genetics [J Hum Genet] 2021 Apr; Vol. 66 (4), pp. 409-417. Date of Electronic Publication: 2020 Oct 10.
Typ publikacji :
Journal Article
MeSH Terms :
Genes, Recessive*
Homozygote*
Polymorphism, Single Nucleotide*
Genetic Diseases, Inborn/*genetics
Genetic Diseases, Inborn/*pathology
DNA Copy Number Variations ; Humans ; Whole Exome Sequencing
Czasopismo naukowe
Tytuł :
Novel homozygous mutation of plasminogen in ligneous conjunctivitis: a case report and literature review.
Autorzy :
Xu L; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Sun Y; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Yang K; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Zhao D; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Wang Y; Central Lab, Xiang'an Hospital of Xiamen University, and Eye Institute of Xiamen University, Xiamen University, Xiamen, China.
Ren S; Henan Provincial People's Hospital, Henan Eye Hospital, Henan Eye Institute, People's Hospital of Zhengzhou University, Henan University People's Hospital, Zhengzhou, China.
Pokaż więcej
Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2021 Apr; Vol. 42 (2), pp. 105-109. Date of Electronic Publication: 2021 Jan 11.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
Homozygote*
Mutation, Missense*
Conjunctivitis/*genetics
Conjunctivitis/*pathology
Plasminogen/*deficiency
Plasminogen/*genetics
Skin Diseases, Genetic/*genetics
Skin Diseases, Genetic/*pathology
Female ; Humans ; Infant ; Male ; Pedigree ; Prognosis
SCR Disease Name :
Plasminogen Deficiency, Type I
Czasopismo naukowe
Tytuł :
Photoreceptor Degeneration in Homozygous Male Per2 Mice During Aging.
Autorzy :
Goyal V; Neuroscience Institute, Department of Pharmacology & Toxicology, Morehouse School of Medicine, Atlanta, Georgia.
DeVera C; Neuroscience Institute, Department of Pharmacology & Toxicology, Morehouse School of Medicine, Atlanta, Georgia.
Baba K; Neuroscience Institute, Department of Pharmacology & Toxicology, Morehouse School of Medicine, Atlanta, Georgia.
Sellers J; Department of Ophthalmology, Emory Eye Center, Emory University, Atlanta, Georgia.
Chrenek MA; Department of Ophthalmology, Emory Eye Center, Emory University, Atlanta, Georgia.
Iuvone PM; Department of Ophthalmology, Emory Eye Center, Emory University, Atlanta, Georgia.
Tosini G; Neuroscience Institute, Department of Pharmacology & Toxicology, Morehouse School of Medicine, Atlanta, Georgia.; Department of Ophthalmology, Emory Eye Center, Emory University, Atlanta, Georgia.
Pokaż więcej
Źródło :
Journal of biological rhythms [J Biol Rhythms] 2021 Apr; Vol. 36 (2), pp. 137-145. Date of Electronic Publication: 2020 Nov 02.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Circadian Rhythm*
Homozygote*
Retinal Degeneration*
Aging/*metabolism
Period Circadian Proteins/*genetics
Retinal Pigment Epithelium/*metabolism
Animals ; Electroretinography ; Male ; Mice ; Mice, Inbred C57BL ; Models, Animal
Czasopismo naukowe
Tytuł :
Autosomal recessive Stickler syndrome associated with homozygous mutations in the COL9A2 gene.
Autorzy :
Kjellström U; Department of Clinical Sciences Lund, Ophthalmology, Lund University, Skane University Hospital, Lund, Sweden.
Martell S; Department of Oto-Rhino-Laryngology, Helsingborg Hospital, Helsingborg, Sweden.
Brobeck C; Department of Oto-Rhino-Laryngology, Helsingborg Hospital, Helsingborg, Sweden.
Andréasson S; Department of Clinical Sciences Lund, Ophthalmology, Lund University, Skane University Hospital, Lund, Sweden.
Pokaż więcej
Źródło :
Ophthalmic genetics [Ophthalmic Genet] 2021 Apr; Vol. 42 (2), pp. 161-169. Date of Electronic Publication: 2020 Dec 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Genes, Recessive*
Homozygote*
Mutation*
Phenotype*
Arthritis/*genetics
Arthritis/*pathology
Collagen Type IX/*genetics
Connective Tissue Diseases/*genetics
Connective Tissue Diseases/*pathology
Hearing Loss, Sensorineural/*genetics
Hearing Loss, Sensorineural/*pathology
Retinal Detachment/*genetics
Retinal Detachment/*pathology
Adolescent ; Adult ; Case-Control Studies ; Child ; Female ; Humans ; Male ; Young Adult
SCR Disease Name :
Stickler syndrome, type 1
Czasopismo naukowe
Tytuł :
New insights into structure and function of bis-phosphinic acid derivatives and implications for CFTR modulation.
Autorzy :
Bitam S; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Elbahnsi A; Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, Sorbonne Université, 75005, Paris, France.
Creste G; UMR 8601 CNRS, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques (LCBPT), Université de Paris, 75006, Paris, France.
Pranke I; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Chevalier B; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Berhal F; UMR 8601 CNRS, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques (LCBPT), Université de Paris, 75006, Paris, France.
Hoffmann B; Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, Sorbonne Université, 75005, Paris, France.
Servel N; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Baatalah N; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Tondelier D; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Hatton A; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Moquereau C; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Faria Da Cunha M; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Pastor A; UMR 8601 CNRS, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques (LCBPT), Université de Paris, 75006, Paris, France.
Lepissier A; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Hinzpeter A; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Mornon JP; Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, Sorbonne Université, 75005, Paris, France.
Prestat G; UMR 8601 CNRS, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques (LCBPT), Université de Paris, 75006, Paris, France.
Edelman A; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France.
Callebaut I; Muséum National d'Histoire Naturelle, UMR CNRS 7590, Institut de Minéralogie, de Physique des Matériaux et de Cosmochimie, Sorbonne Université, 75005, Paris, France.
Gravier-Pelletier C; UMR 8601 CNRS, Laboratoire de Chimie et Biochimie Pharmacologiques et Toxicologiques (LCBPT), Université de Paris, 75006, Paris, France.
Sermet-Gaudelus I; INSERM U1151, Institut Necker Enfants Malades, Université de Paris, 75015, Paris, France. .; Centre de Référence Maladies Rares Mucoviscidose et Maladies du CFTR, European Reference Network for Rare Respiratory Diseases, Hôpital Necker Enfants Malades, 75015, Paris, France. .
Pokaż więcej
Źródło :
Scientific reports [Sci Rep] 2021 Mar 25; Vol. 11 (1), pp. 6842. Date of Electronic Publication: 2021 Mar 25.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Homozygote*
Bronchi/*drug effects
Cystic Fibrosis/*drug therapy
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
Nasal Cavity/*drug effects
Phosphinic Acids/*chemistry
Phosphinic Acids/*pharmacology
Bronchi/metabolism ; Bronchi/pathology ; Cells, Cultured ; Cystic Fibrosis/genetics ; Cystic Fibrosis/pathology ; Humans ; Molecular Docking Simulation ; Mutation ; Nasal Cavity/metabolism ; Nasal Cavity/pathology
Czasopismo naukowe
Tytuł :
Two Siblings Homozygous for F508del-CFTR Have Varied Disease Phenotypes and Protein Biomarkers.
Autorzy :
Zhang Z; Department of Pediatrics, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Wang J; Department of Microbiology, Immunology, and Biochemistry, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Zhang YH; Department of Bioscience Research, College of Dentistry, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Gardner TE; Department of Pediatrics, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.; University of Tennessee Cystic Fibrosis Care and Research Center at Le Bonheur Children's Hospital-Methodist University Hospital, Memphis, TN 38103, USA.
Fitzpatrick EA; Department of Microbiology, Immunology, and Biochemistry, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.
Zhang W; Department of Pediatrics, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.; University of Tennessee Cystic Fibrosis Care and Research Center at Le Bonheur Children's Hospital-Methodist University Hospital, Memphis, TN 38103, USA.; Departments of Physiology, College of Medicine, University of Tennessee Health Science Center, Memphis, TN 38163, USA.; Children's Foundation Research Institute, Le Bonheur Children's Hospital, Memphis, TN 38103, USA.
Pokaż więcej
Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Mar 05; Vol. 22 (5). Date of Electronic Publication: 2021 Mar 05.
Typ publikacji :
Case Reports
MeSH Terms :
Amino Acid Sequence*
Cystic Fibrosis*/genetics
Cystic Fibrosis*/metabolism
Homozygote*
Sequence Deletion*
Siblings*
Cystic Fibrosis Transmembrane Conductance Regulator/*genetics
Inflammation Mediators/*metabolism
T-Lymphocytes, Helper-Inducer/*metabolism
Biomarkers/metabolism ; Female ; Humans ; Leukocyte Elastase/metabolism ; Male ; Sputum/metabolism
Raport
Tytuł :
A novel homozygous mutation (p.N958K) of SLC12A3 in Gitelman syndrome is associated with endoplasmic reticulum stress.
Autorzy :
Tang W; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Huang X; Department of Ophthalmology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Liu Y; Department of Gastroenterology, The Third People's Hospital of Honghe Prefecture, Gejiu, 661000, Yunnan, China.
Lv Q; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Li T; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Song Y; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Zhang X; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China.
Chen X; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China. .
Shi Y; Department of Endocrinology, Changzheng Hospital, Second Military Medical University, Shanghai, 200003, China. .
Pokaż więcej
Źródło :
Journal of endocrinological investigation [J Endocrinol Invest] 2021 Mar; Vol. 44 (3), pp. 471-480. Date of Electronic Publication: 2020 Jul 08.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Endoplasmic Reticulum Stress*
Homozygote*
Mutation, Missense*
Gitelman Syndrome/*pathology
Adult ; Female ; Gitelman Syndrome/etiology ; Gitelman Syndrome/metabolism ; Humans ; Male ; Pedigree ; Prognosis ; Solute Carrier Family 12, Member 3/genetics
Czasopismo naukowe
Tytuł :
A Homozygous Mutation in 5' Untranslated Region of TNFRSF11A Leading to Molecular Diagnosis of Osteopetrosis Coinheritance With Wiskott-Aldrich Syndrome.
Autorzy :
Chen T; Departments of Hematology.; Hematology Research Centre, Anhui Provincial Research Institute of Pediatrics.; Hematology Research Centre, Anhui Medical University, Hefei, People's Republic of China.
Sun J; Orthopedics.; Hematology Research Centre, Anhui Provincial Research Institute of Pediatrics.
Liu G; Neonatal.; Hematology Research Centre, Anhui Provincial Research Institute of Pediatrics.
Yin C; Radiology.; Hematology Research Centre, Anhui Provincial Research Institute of Pediatrics.
Liu H; Hematology Research Centre, Anhui Provincial Research Institute of Pediatrics.
Qu L; Departments of Hematology.; Hematology Research Centre, Anhui Provincial Research Institute of Pediatrics.
Fang S; Respiratory, Anhui Provincial Children's Hospital.
Shifra A; The Rina Zaizov Division of Pediatric Hematology-Oncology, Schneider Children's Medical Center, Petah Tikva, Israel.
Gilad G; The Rina Zaizov Division of Pediatric Hematology-Oncology, Schneider Children's Medical Center, Petah Tikva, Israel.
Pokaż więcej
Źródło :
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2021 Mar 01; Vol. 43 (2), pp. e264-e267.
Typ publikacji :
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
5' Untranslated Regions*
Genetic Predisposition to Disease*
Homozygote*
Mutation*
Osteopetrosis/*diagnosis
Receptor Activator of Nuclear Factor-kappa B/*genetics
Wiskott-Aldrich Syndrome/*diagnosis
Humans ; Infant ; Male ; Osteopetrosis/complications ; Osteopetrosis/genetics ; Prognosis ; Wiskott-Aldrich Syndrome/complications ; Wiskott-Aldrich Syndrome/genetics
Czasopismo naukowe
Tytuł :
Contribution of homozygous and compound heterozygous missense mutations in VWA2 to Alzheimer's disease.
Autorzy :
Hoogmartens J; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, Antwerp, Belgium; Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.
Hens E; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, Antwerp, Belgium; Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim and Hoge Beuken, Antwerp, Belgium; Department of Neurology, University Hospital Antwerp, Edegem, Belgium; Department of Neurology, University Hospital Brussel and Center for Neurosciences, Free University Brussels, Brussels, Belgium.
Engelborghs S; Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology, University Hospital Brussel and Center for Neurosciences, Free University Brussels, Brussels, Belgium.
Vandenberghe R; Department of Neurology, University Hospitals Leuven and Department of Neurosciences, KU Leuven, Belgium.
De Deyn PP; Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium; Department of Neurology and Memory Clinic, Hospital Network Antwerp, Middelheim and Hoge Beuken, Antwerp, Belgium.
Cacace R; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, Antwerp, Belgium; Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. Electronic address: .
Van Broeckhoven C; Neurodegenerative Brain Diseases Group, VIB Center for Molecular Neurology, Antwerp, Belgium; Institute Born-Bunge, Antwerp, Belgium; Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium. Electronic address: .
Pokaż więcej
Corporate Authors :
BELNEU Consortium
Źródło :
Neurobiology of aging [Neurobiol Aging] 2021 Mar; Vol. 99, pp. 100.e17-100.e23. Date of Electronic Publication: 2020 Sep 12.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Heterozygote*
Homozygote*
Alzheimer Disease/*genetics
Biomarkers, Tumor/*genetics
Calcium-Binding Proteins/*genetics
Mutation, Missense/*genetics
Adult ; Aged ; Aged, 80 and over ; Amyloid beta-Protein Precursor/genetics ; Female ; Humans ; Male ; Middle Aged ; Presenilin-1/genetics ; Presenilin-2/genetics ; Risk
Czasopismo naukowe
Tytuł :
The distribution of runs of homozygosity in the genome of river and swamp buffaloes reveals a history of adaptation, migration and crossbred events.
Autorzy :
Macciotta NPP; Dipartimento di Agraria, Università degli Studi di Sassari, Sassari, Italia.
Colli L; Dipartimento di Scienze Animali, della Nutrizione e degli Alimenti-DIANA, Università Cattolica del Sacro Cuore, Piacenza, Italia.; Centro di Ricerca sulla Biodiversità e sul DNA Antico-BioDNA, Università Cattolica del Sacro Cuore, Piacenza, Italia.
Cesarani A; Dipartimento di Agraria, Università degli Studi di Sassari, Sassari, Italia. .; Department of Animal and Dairy Science, University of Georgia, Athens, GA, USA. .
Ajmone-Marsan P; Dipartimento di Scienze Animali, della Nutrizione e degli Alimenti-DIANA, Università Cattolica del Sacro Cuore, Piacenza, Italia.; Centro di Ricerca Nutrigenomica e Proteomica-PRONUTRIGEN, Università Cattolica del Sacro Cuore, Piacenza, Italia.
Low WY; The Davies Research Centre, School of Animal and Veterinary Sciences, University of Adelaide, Roseworthy, SA, 5371, Australia.
Tearle R; The Davies Research Centre, School of Animal and Veterinary Sciences, University of Adelaide, Roseworthy, SA, 5371, Australia.
Williams JL; Dipartimento di Scienze Animali, della Nutrizione e degli Alimenti-DIANA, Università Cattolica del Sacro Cuore, Piacenza, Italia.; The Davies Research Centre, School of Animal and Veterinary Sciences, University of Adelaide, Roseworthy, SA, 5371, Australia.
Pokaż więcej
Źródło :
Genetics, selection, evolution : GSE [Genet Sel Evol] 2021 Feb 27; Vol. 53 (1), pp. 20. Date of Electronic Publication: 2021 Feb 27.
Typ publikacji :
Journal Article
MeSH Terms :
Adaptation, Physiological*
Ecosystem*
Homozygote*
Hybridization, Genetic*
Polymorphism, Single Nucleotide*
Buffaloes/*genetics
Animal Distribution ; Animals ; Buffaloes/physiology ; Female ; Genetic Fitness ; Inbreeding ; Life History Traits ; Male ; Reproduction ; Rivers ; Wetlands
Czasopismo naukowe
Tytuł :
Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome.
Autorzy :
Ali G; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Sadia; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Foo JN; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.; Human Genetics, Genome Institute of Singapore, A∗STAR, 60 Biopolis Street, Singapore 138672.
Nasir A; Molecular Science and Technology, Ajou University, Suwon, Republic of Korea.
Chang CH; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.; Human Genetics, Genome Institute of Singapore, A∗STAR, 60 Biopolis Street, Singapore 138672.
Chew EG; Lee Kong Chian School of Medicine, Nanyang Technological University Singapore, 11 Mandalay Road, Singapore 308232.; Human Genetics, Genome Institute of Singapore, A∗STAR, 60 Biopolis Street, Singapore 138672.
Latif Z; Department of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Azeem Z; Department of Biochemistry/Molecular Biology AJK Medical College, Muzaffarabad, Pakistan.
Ain-Ul-Batool S; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Kazmi SAR; Department of Chemistry Government College University Lahore, Pakistan.
Awan NB; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Khan AH; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Rehman FU; Department of Microbiology, Faculty of Life Sciences, University of Balochistan, Quetta, Pakistan.
Khalid M; Department of Biotechnology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.; Department of Biotechnology, Women University of Azad Kashmir Bagh, 12500, Pakistan.
Wali A; Department of Biotechnology, Faculty of Life Sciences and Informatics, BUITEMS, 87100 Quetta, Pakistan.
Sarwar S; Department of Zoology, University of Azad Jammu and Kashmir, P.O. Box 13100, Muzaffarabad, Pakistan.
Akhtar W; Department of Botany, University of Azad Jammu and Kashmir, Muzaffarabad, Pakistan.
Ahmed Abbasi A; Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur AJK, Pakistan.
Nisar R; Department of Zoology, Mirpur University of Science and Technology (MUST), Mirpur AJK, Pakistan.
Pokaż więcej
Źródło :
BioMed research international [Biomed Res Int] 2021 Feb 23; Vol. 2021, pp. 6626015. Date of Electronic Publication: 2021 Feb 23 (Print Publication: 2021).
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Homozygote*
Mutation, Missense*
Pedigree*
Bardet-Biedl Syndrome/*metabolism
Proteins/*genetics
Adult ; Amino Acid Substitution ; Bardet-Biedl Syndrome/pathology ; Female ; Humans ; India ; Male
Czasopismo naukowe

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies