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Tytuł:
Neurite-based white matter alterations in MAPT mutation carriers: A multi-shell diffusion MRI study in the ALLFTD consortium.
Autorzy:
Corriveau-Lecavalier N; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.
Tosakulwong N; Departmenf of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Lesnick TG; Departmenf of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Fought AJ; Departmenf of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.
Reid RI; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Schwarz CG; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Senjem ML; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Jack CR Jr; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Jones DT; Department of Neurology, Mayo Clinic, Rochester, MN, USA; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Vemuri P; Department of Radiology, Mayo Clinic, Rochester, MN, USA.
Rademakers R; Department of Neuroscience, Mayo Clinic Jacksonville, FL, USA; Center for Molecular Neurology, Antwerp University, Belgium.
Ramos EM; Department of Psychiatry, University of California San Diego, CA, USA.
Geschwind DH; Department of Neurology, University of California San Diego, CA, USA.
Knopman DS; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Botha H; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Savica R; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Graff-Radford J; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Ramanan VK; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Fields JA; Department of Psychiatry and Psychology, Mayo Clinic, Rochester, MN, USA.
Graff-Radford N; Department of Neurology, Mayo Clinic Jacksonville, FL, USA.
Wszolek Z; Department of Neurology, Mayo Clinic Jacksonville, FL, USA.
Forsberg LK; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Petersen RC; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Heuer HW; Department of Neurology, University of California San Francisco, CA, USA.
Boxer AL; Department of Neurology, University of California San Francisco, CA, USA.
Rosen HJ; Department of Neurology, University of California San Francisco, CA, USA.
Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Kantarci K; Department of Radiology, Mayo Clinic, Rochester, MN, USA. Electronic address: .
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Corporate Authors:
ALLFTD consortium
Źródło:
Neurobiology of aging [Neurobiol Aging] 2024 Feb; Vol. 134, pp. 135-145. Date of Electronic Publication: 2023 Dec 10.
Typ publikacji:
Journal Article
MeSH Terms:
Neurites*
White Matter*/diagnostic imaging
Heterozygote*
tau Proteins*/genetics
Brain/diagnostic imaging ; Diffusion Magnetic Resonance Imaging/methods ; Diffusion Tensor Imaging/methods ; Mutation ; Humans
Czasopismo naukowe
Tytuł:
Impact of HLA class I functional divergence on HIV control.
Autorzy:
Viard M; Basic Science Program, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, MD, USA and Laboratory of Integrative Cancer Immunology, Center for Cancer Research, National Cancer Institute Bethesda, MD, USA.
O'hUigin C; Basic Science Program, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, MD, USA and Laboratory of Integrative Cancer Immunology, Center for Cancer Research, National Cancer Institute Bethesda, MD, USA.
Yuki Y; Basic Science Program, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, MD, USA and Laboratory of Integrative Cancer Immunology, Center for Cancer Research, National Cancer Institute Bethesda, MD, USA.
Bashirova AA; Basic Science Program, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, MD, USA and Laboratory of Integrative Cancer Immunology, Center for Cancer Research, National Cancer Institute Bethesda, MD, USA.
Collins DR; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.
Urbach JM; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.
Wolinsky S; Division of Infectious Diseases, Department of Medicine, The Feinberg School of Medicine, Northwestern University, Chicago, IL, USA.
Buchbinder S; Bridge HIV, San Francisco Department of Public Health, San Francisco, CA, USA.; Department of Medicine, Epidemiology and Biostatistics, University of California, San Francisco, CA, USA.
Kirk GD; Department of Epidemiology, Bloomberg School of Public Health, Johns Hopkins University, Baltimore, MD, USA.
Goedert JJ; Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
Michael NL; US Military HIV Research Program, Walter Reed Army Institute of Research, Silver Spring, MD, USA.
Haas DW; Department of Medicine, Vanderbilt University School of Medicine, Nashville, TN, USA.
Deeks SG; Department of Medicine, University of California, San Francisco, CA, USA.
Walker BD; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA.
Yu X; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.
Carrington M; Basic Science Program, Frederick National Laboratory for Cancer Research, National Cancer Institute, Frederick, MD, USA and Laboratory of Integrative Cancer Immunology, Center for Cancer Research, National Cancer Institute Bethesda, MD, USA.; Ragon Institute of Massachusetts General Hospital, Massachusetts Institute of Technology and Harvard University, Cambridge, MA, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2024 Jan 19; Vol. 383 (6680), pp. 319-325. Date of Electronic Publication: 2024 Jan 18.
Typ publikacji:
Journal Article
MeSH Terms:
Heterozygote*
HIV Infections*/genetics
HIV Infections*/pathology
HLA-B Antigens*/genetics
Humans ; Alleles ; Disease Progression ; Peptides/genetics ; Peptides/immunology ; Male ; Female ; Young Adult ; Adult ; Middle Aged ; Aged
Czasopismo naukowe
Tytuł:
Liver transplantation for alpha 1 antitrypsin deficiency (A1ATD) using a heterozygous donor: Outcomes and review of the literature.
Autorzy:
Sood V; Department of Pediatric Hepatology, Institute of Liver and Biliary Sciences, New Dehli, India.
Lee EJ; Department of Surgery, Pediatric Transplant Center, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
Raghu V; Division of Pediatric Gastroenterology, Department of Pediatrics, University of Pittsburgh Medical Center Pittsburgh Children's Hospital, Pittsburgh, Pennsylvania, USA.
Reyes-Mugica M; Department of Pathology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Salgado CM; Department of Pathology, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA.
Squires J; Division of Pediatric Gastroenterology, Department of Pediatrics, University of Pittsburgh Medical Center Pittsburgh Children's Hospital, Pittsburgh, Pennsylvania, USA.
Mazariegos G; Division of Transplant Surgery, Department of Surgery, University of Pittsburgh Medical Center Pittsburgh Children's Hospital, Pittsburgh, Pennsylvania, USA.
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Źródło:
Pediatric transplantation [Pediatr Transplant] 2023 Jun; Vol. 27 (4), pp. e14488. Date of Electronic Publication: 2023 Feb 19.
Typ publikacji:
Review; Case Reports
MeSH Terms:
Liver Transplantation*
Heterozygote*
alpha 1-Antitrypsin Deficiency*/genetics
alpha 1-Antitrypsin Deficiency*/surgery
Living Donors*
alpha 1-Antitrypsin*/analysis
alpha 1-Antitrypsin*/genetics
Tissue and Organ Procurement ; Humans ; Female ; Child ; Male ; Liver/chemistry ; Liver/pathology
Recenzja
Tytuł:
Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.
Autorzy:
Yang M; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 The First Ring Road West 2, Chengdu, 610072, Sichuan, China.; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No. 2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Peng L; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 The First Ring Road West 2, Chengdu, 610072, Sichuan, China.; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No. 2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Lv L; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 The First Ring Road West 2, Chengdu, 610072, Sichuan, China.; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No. 2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Dai E; Department of Ophthalmology, Xin Hua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, Shanghai, China.
He Y; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 The First Ring Road West 2, Chengdu, 610072, Sichuan, China.; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No. 2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Zhao R; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 The First Ring Road West 2, Chengdu, 610072, Sichuan, China.; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No. 2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China.
Li S; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Department of Laboratory Medicine, Center for Medical Genetics, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, 32 The First Ring Road West 2, Chengdu, 610072, Sichuan, China. .; Research Unit of Blindness Prevention, Chinese Academy of Medical Sciences (No. 2019RU026), Sichuan Academy of Medical Sciences and Sichuan Provincial People's Hospital, Chengdu, China. .
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Źródło:
Molecular genetics and genomics : MGG [Mol Genet Genomics] 2024 Mar 13; Vol. 299 (1), pp. 32. Date of Electronic Publication: 2024 Mar 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Retinal Diseases*/genetics
Retinal Diseases*/metabolism
Retinal Diseases*/pathology
Female ; Humans ; Infant ; DNA Mutational Analysis ; Eye Proteins/genetics ; Familial Exudative Vitreoretinopathies/genetics ; Heterozygote ; Mutation ; Nerve Tissue Proteins/genetics ; Pedigree ; Phenotype ; Retina/metabolism
Czasopismo naukowe
Tytuł:
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
Autorzy:
Yıldırım R; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
Unal E; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey
Özalkak Ş; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
Akalın A; Diyarbakır Children’s Hospital, Clinic of Pediatric Genetics, Diyarbakır, Turkey
Aykut A; Ege University Faculty of Medicine, Department of Genetics, İzmir, Turkey
Yılmaz N; Diyarbakır Children’s Hospital, Department of Pediatric Psychiatry, Diyarbakır, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 76-83. Date of Electronic Publication: 2023 Oct 17.
Typ publikacji:
Journal Article
MeSH Terms:
Noonan Syndrome*/diagnosis
Noonan Syndrome*/genetics
Dwarfism*
Humans ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Heterozygote ; Phenotype
Czasopismo naukowe
Tytuł:
Compound heterozygosity for Southeast Asian hereditary persistence of fetal hemoglobin and β0-thalassemia results in thalassemia intermedia: Pedigree analysis and genetic research in a family from South China. A case report.
Autorzy:
Wang G; Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin, China.
Deng H; Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin, China.; Department of Neonatology, The Third People's Hospital of Hubei province, Wuhan, China.
Peng P; Department of Radiology, The First Affiliated Hospital of Guangxi Medical University, Nanning, China.
Zheng H; Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin, China.
Tian B; Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin, China.
Zhu C; Genetics and Precision Medicine Laboratory, Affiliated Hospital of Guilin Medical University, Guilin, China.; Department of Pediatrics, Affiliated Hospital of Guilin Medical University, Guilin, China.
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Źródło:
Medicine [Medicine (Baltimore)] 2024 Mar 08; Vol. 103 (10), pp. e37446.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
beta-Thalassemia*/genetics
beta-Thalassemia*/diagnosis
Male ; Humans ; Fetal Hemoglobin/genetics ; Pedigree ; Deferasirox ; Southeast Asian People ; Genetic Research ; China ; Iron ; Heterozygote
Czasopismo naukowe
Tytuł:
A genotyping array for the globally invasive vector mosquito, Aedes albopictus.
Autorzy:
Cosme LV; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA. .
Corley M; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
Johnson T; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
Severson DW; Department of Biological Sciences, University of Notre Dame, Notre Dame, IN, USA.
Yan G; Department of Population Health and Disease Prevention, University of California, Irvine, CA, USA.
Wang X; Department of Population Health and Disease Prevention, University of California, Irvine, CA, USA.
Beebe N; School of the Environment, University of Queensland Australia, St Lucia, Australia.
Maynard A; School of the Environment, University of Queensland Australia, St Lucia, Australia.
Bonizzoni M; Department of Biology and Biotechnology 'Lazzaro Spallanzani', University of Pavia, Pavia, Italy.
Khorramnejad A; Department of Biology and Biotechnology 'Lazzaro Spallanzani', University of Pavia, Pavia, Italy.
Martins AJ; Laboratório de Fisiologia e Controle de Artrópodes Vetores, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, RJ, Brazil.
Lima JBP; Laboratório de Fisiologia e Controle de Artrópodes Vetores, Instituto Oswaldo Cruz, FIOCRUZ, Rio de Janeiro, RJ, Brazil.
Munstermann LE; Yale School of Public Health and Yale Peabody Museum, Yale University, New Haven, CT, USA.
Surendran SN; Department of Zoology, Faculty of Science, University of Jaffna, Jaffna, Sri Lanka.
Chen CH; National Health Research Institutes, National Mosquito-Borne Disease Control Research Center & National Institute of Infectious Diseases and Vaccinology, Miaoli, Taiwan.
Maringer K; Pirbright Institute, Pirbright, England, UK.
Wahid I; Center for Zoonotic and Emerging Diseases, Hasanuddin University Medical Research Centre (HUMRC), Makassar, Indonesia.
Mukherjee S; Mitrani Department of Desert Ecology, Jacob Blaustein Institutes of Desert Research, Ben-Gurion University of the Negev, Midreshet Ben-Gurion, Israel.; Biological and Life Sciences Division, School of Arts and Sciences, Ahmedabad University, Ahmedabad, Gujarat, India.
Xu J; Department of Biology, New Mexico State University, Las Cruces, NM, USA.
Fontaine MC; MIVEGEC, Université de Montpellier, CNRS, IRD, Montpellier, France.; University of Groningen, Groningen Institute for Evolutionary Life Sciences, Groningen, The Netherlands.
Estallo EL; Facultad de Ciencias Exactas, Físicas y Naturales, Centro de Investigaciones Entomológicas de Córdoba, Universidad Nacional de Córdoba, Córdoba, Argentina.; Instituto de Investigaciones Biológicas y Tecnológicas, Consejo Nacional de Investigaciones Científicas y Técnicas, Universidad Nacional de Córdoba, Córdoba, Argentina.
Stein M; Instituto de Medicina Regional, Universidad Nacional del Nordeste, CONICET CCT Nordeste, Resistencia, Argentina.
Livdahl T; Clark University, Worcester, MA, USA.
Scaraffia PY; School of Public Health and Tropical Medicine, Tulane University, New Orleans, LA, USA.
Carter BH; School of Public Health and Tropical Medicine, Tulane University, New Orleans, LA, USA.
Mogi M; Division of Parasitology, Faculty of Medicine, Saga University, Nabeshima, Saga, Japan.
Tuno N; Laboratory of Ecology, Graduate School of Natural Science and Technology, Kanazawa University, Kanazawa, Japan.
Mains JW; MosquitoMate Inc., Lexington, KY, USA.
Medley KA; Tyson Research Center, Washington University in St. Louis, St. Louis, USA.
Bowles DE; US National Park Service, Washington, USA.
Gill RJ; Department of Life Sciences, Georgina Mace Centre for the Living Planet, Imperial College London, Berkshire, UK.
Eritja R; Centre d'Estudis Avançats de Blanes, Consejo Superior de Investigaciones Científicas, Blanes, Spain.
González-Obando R; Department of Biology, Universidad del Valle, Calle, Colombia.
Trang HTT; Department of Medical Entomology and Zoonotics, Pasteur Institute in Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Boyer S; Medical Entomology Unit, Institut Pasteur du Cambodge, Phnom Penh, Cambodia.
Abunyewa AM; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
Hackett K; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
Wu T; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
Nguyễn J; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
Shen J; Department of Biostatistics, Yale School of Public Health, New Haven, CT, 06510, USA.
Zhao H; Department of Biostatistics, Yale School of Public Health, New Haven, CT, 06510, USA.; Department of Genetics, Yale University School of Medicine, New Haven, CT, 06510, USA.
Crawford JE; Verily Life Sciences, San Francisco, CA, USA.
Armbruster P; Department of Biology, Georgetown University, Washington, DC, USA.
Caccone A; Department of Ecology and Evolutionary Biology, Yale University, New Haven, CT, 06520-8105, USA.
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Źródło:
Parasites & vectors [Parasit Vectors] 2024 Mar 04; Vol. 17 (1), pp. 106. Date of Electronic Publication: 2024 Mar 04.
Typ publikacji:
Journal Article
MeSH Terms:
Mosquito Vectors*/genetics
Aedes*/genetics
Humans ; Animals ; Genotype ; Heterozygote
SCR Organism:
Aedes albopictus
Czasopismo naukowe
Tytuł:
Association between vitamin D receptor gene polymorphisms and genetic susceptibility to benign prostatic hyperplasia: A systematic review and meta-analysis.
Autorzy:
Ruan L; Department of Urology, Guangzhou Red Cross Hospital (Guangzhou Red Cross Hospital of Jinan University).
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Źródło:
Medicine [Medicine (Baltimore)] 2024 Mar 01; Vol. 103 (9), pp. e37361.
Typ publikacji:
Meta-Analysis; Systematic Review; Journal Article
MeSH Terms:
Prostatic Hyperplasia*/genetics
Receptors, Calcitriol*/genetics
Humans ; Male ; Genetic Predisposition to Disease ; Heterozygote ; Polymorphism, Genetic ; Polymorphism, Single Nucleotide
Czasopismo naukowe
Tytuł:
Sodium taurocholate cotransporter polypeptide deficiency from two pairs of twins with homozygous and heterozygous of p.Ser267Phe variant, respectively: Case report.
Autorzy:
Wang M; Department of Infectious Diseases.
Chen T; Department of Stomatology, The Affiliated Hospital of Yunnan Normal University, Kunming, People's Republic of China.
Li M; Department of Nutrition.
Chen R; Department of Infectious Diseases.
Peng J; Department of Infectious Diseases.
Li J; Department of Pathology, Kunming Children's Hospital, The Affiliated Children's Hospital of Kunming Medical University; Yunnan Province Clinical Research Center for Children's Health and Disease, Kunming 650228, People's Republic of China.. Electronic address: .
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Źródło:
Clinics and research in hepatology and gastroenterology [Clin Res Hepatol Gastroenterol] 2024 Mar; Vol. 48 (3), pp. 102303. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Case Reports; Letter
MeSH Terms:
Peptides*
Symporters*
Humans ; Homozygote ; Heterozygote ; Taurocholic Acid ; Organic Anion Transporters, Sodium-Dependent ; Bile Acids and Salts
Raport
Tytuł:
Prenatal to preimplantation genetic diagnosis of a novel compound heterozygous mutation in HSPA9 associated with Even-Plus syndrome.
Autorzy:
Chang X; Department of Pediatrics, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China; Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China.
Ji C; Department of Obstetrics and Gynecology, Air Force Hospital of Eastern Theater, Nanjing, Jiangsu Province, China.
Zhang T; Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China.
Huang H; Department of Pediatrics, The First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China; Department of Obstetrics and Gynecology, the First Affiliated Hospital of Nanjing Medical University, Nanjing, Jiangsu Province, China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2024 Mar 01; Vol. 555, pp. 117803. Date of Electronic Publication: 2024 Jan 26.
Typ publikacji:
Journal Article
MeSH Terms:
Preimplantation Diagnosis*
Pregnancy ; Female ; Humans ; Pedigree ; Mutation ; Heterozygote ; RNA Splicing ; HSP70 Heat-Shock Proteins/genetics ; Mitochondrial Proteins/genetics
Czasopismo naukowe
Tytuł:
New cases of recently described Thauvin-Robinet-Faivre syndrome with a novel homozygous FIBP gene variant.
Autorzy:
Kılıç E; Department of Pediatric Genetics, University of Health Sciences, Ankara Bilkent City Children's Hospital, Ankara, Turkey.
Koşukcu C; Department of Bioinformatics, Hacettepe University Institute of Health Sciences, Ankara, Turkey.
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Źródło:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63449. Date of Electronic Publication: 2023 Oct 24.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Intellectual Disability*/pathology
Megalencephaly*/genetics
Humans ; Carrier Proteins/genetics ; Heterozygote ; Homozygote ; Membrane Proteins/genetics ; Mutation
Czasopismo naukowe
Tytuł:
Lower overall survival in male patients with advanced disease undergoing allogeneic hematopoietic stem cell transplantation is associated with CYP1B1 Leu432Val polymorphism.
Autorzy:
Stute N; Department of Bone Marrow Transplantation, West German Cancer Center, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany; Third Medical Department with Hematology, Medical Oncology, Hemostaseology, Infectious Diseases and Rheumatology, Paracelsus Medical University, Salzburg.
Koldehoff M; Department of Bone Marrow Transplantation, West German Cancer Center, University Hospital of Essen, University of Duisburg-Essen, Essen, Germany; Department of Hygiene and Environmental Medicine, University Hospital Essen, University of Duisburg-Essen, Essen, Germany; Institute for Laboratory Medicine and Transfusion Medicine, Zotzô€€€Klimas, Düsseldorf. .
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Źródło:
Haematologica [Haematologica] 2024 Mar 01; Vol. 109 (3), pp. 799-808. Date of Electronic Publication: 2024 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Hematopoietic Stem Cell Transplantation*
Humans ; Female ; Male ; Retrospective Studies ; Genotype ; Heterozygote ; Recurrence ; Cytochrome P-450 CYP1B1/genetics
Czasopismo naukowe
Tytuł:
Generation of iPSC lines (KAIMRCi003A, KAIMRCi003B) from a Saudi patient with Dravet syndrome carrying homozygous mutation in the CPLX1 gene and heterozygous mutation in SCN9A.
Autorzy:
Alowaysi M; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Al-Shehri M; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Badkok A; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Attas H; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Aboalola D; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Baadhaim M; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Alzahrani H; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Daghestani M; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.; Department of Pathology and Laboratory Medicine, Ministry of the National Guard-Health Affairs, Jeddah, Saudi Arabia.
Zia A; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Al-Ghamdi K; Forensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Al-Ghamdi A; Forensic Laboratories, Criminal Evidence Department, Jeddah, Saudi Arabia.
Zakri S; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Aouabdi S; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia.
Tegner J; Biological and Environmental Science and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences and Engineering Division, King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
Alsayegh K; King Abdullah International Medical Research Center (KAIMRC), King Abdulaziz Medical City, King Saud Bin Abdulaziz University for Health Sciences, Jeddah, Saudi Arabia. .
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Źródło:
Human cell [Hum Cell] 2024 Mar; Vol. 37 (2), pp. 502-510. Date of Electronic Publication: 2023 Dec 19.
Typ publikacji:
Journal Article
MeSH Terms:
Induced Pluripotent Stem Cells*
Epilepsies, Myoclonic*/genetics
Humans ; Saudi Arabia ; Mutation/genetics ; Heterozygote ; NAV1.7 Voltage-Gated Sodium Channel/genetics
Czasopismo naukowe
Tytuł:
Compound Heterozygous for Asian Inversion Deletion Gγ (Aγδβ) and IVS1-5 (G→C) β Thalassemia Mutation in a Transfusion-Dependent Patient.
Autorzy:
Dixit S; Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.; School of Biotechnology, Kalinga Institute of Industrial Technology (KIIT) University, Bhubaneswar, 751024, Odisha, India.
Das A; Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.
Panigrahi SS; Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.
Das P; Department of Pediatrics, Kalinga Institute of Medical Sciences, Bhubaneswar, 751024, Odisha, India.
Samal P; Department of Hematology, Institute of Medical Sciences (IMS) & SUM Hospital, Siksha 'O' Anusandhan (SOA) University, Bhubaneswar, 751003, Odisha, India.
Bal M; Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.
Pati S; Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India.
Ranjit M; Indian Council of Medical Research (ICMR)-Regional Medical Research Centre, Bhubaneswar, 751023, Odisha, India. .
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Źródło:
Indian journal of pediatrics [Indian J Pediatr] 2024 Mar; Vol. 91 (3), pp. 309. Date of Electronic Publication: 2023 Sep 14.
Typ publikacji:
Letter
MeSH Terms:
beta-Thalassemia*/genetics
beta-Thalassemia*/therapy
Humans ; Mutation ; Fetal Hemoglobin/genetics ; Heterozygote
Opinia redakcyjna
Tytuł:
Cystic fibrosis transmembrane conductance regulator modulator administration to a F508del heterozygous infant with meconium pseudocyst and short bowel syndrome: A case report.
Autorzy:
Stoffella S; Department of Pharmacy, University of California San Francisco, San Francisco, California, USA.
Ly N; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
McGarry M; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Neemuchwala F; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Church G; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Chan M; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Cuneo A; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Omori M; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
Gibb E; Department of Pediatrics, University of California San Francisco, San Francisco, California, USA.
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Źródło:
Pediatric pulmonology [Pediatr Pulmonol] 2024 Mar; Vol. 59 (3), pp. 791-793. Date of Electronic Publication: 2023 Dec 13.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Short Bowel Syndrome*
Cystic Fibrosis*
Humans ; Infant, Newborn ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Meconium ; Heterozygote ; Mutation ; Aminophenols ; Benzodioxoles ; Chloride Channel Agonists ; Drug Combinations
Czasopismo naukowe
Tytuł:
Clinical and genetic features of patients suffering from CMT4J.
Autorzy:
Beloribi-Djefaflia S; Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 05 13385, Marseille, Cedex, France.; Filnemus, European Reference Network of Rare Diseases (ERN), Marseille, France.
Morales RJ; Neuromuscular Unit. Neurology Department, Vall d'Hebron University Hospital. Vall d'Hebron Research Institute (VHIR), Barcelona, Spain.
Fatehi F; Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 05 13385, Marseille, Cedex, France.; Filnemus, European Reference Network of Rare Diseases (ERN), Marseille, France.
Isapof A; Pediatric Neurology Department, Reference Centre for Neuromuscular Diseases, Armand Trousseau Hospital, APHP, Sorbonne University, 26, Avenue du Docteur Arnold Netter, 75012, Paris, France.
Servais L; MDUK Oxford Neuromuscular Centre and NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.; Neuromuscular Reference Center, Department of Paediatrics, University and University Hospital of Liege, Liege, Belgium.
Leonard-Louis S; Neuromyology, Reference Center of Neuromuscular Disorders, Pitié Salpétrière Hospital, APHP, 47-83 Boulevard de L'Hôpital, 75651, Paris Cedex 13, France.
Michaud M; Reference Center for Neuromuscular Disorders, Central Nancy University Hospital, 29 Avenue Maréchal de Lattre de Tassigny, 54035, Nancy, France.
Verdure P; Clinique Saint-Hilaire, 76000, Rouen, France.
Gidaro T; I-Motion Institute, Hôpital Trousseau, Paris, France.
Pouget J; Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 05 13385, Marseille, Cedex, France.; Filnemus, European Reference Network of Rare Diseases (ERN), Marseille, France.; Aix Marseille Université-Inserm UMR 1251, Medical Genetics and Functional Genomics, Marseille, France.
Poinsignon V; Department of Molecular Genetics Pharmacogenomics and Hormonology, APHP, CHU de Bicêtre, 94276, Le Kremlin-Bicêtre, France.
Bonello-Palot N; Aix Marseille Université-Inserm UMR 1251, Medical Genetics and Functional Genomics, Marseille, France.
Attarian S; Reference Center for Neuromuscular Disorders and ALS, Timone University Hospital, Aix-Marseille University, 264 Rue Saint Pierre, 05 13385, Marseille, Cedex, France. .; Filnemus, European Reference Network of Rare Diseases (ERN), Marseille, France. .; Aix Marseille Université-Inserm UMR 1251, Medical Genetics and Functional Genomics, Marseille, France. .
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Źródło:
Journal of neurology [J Neurol] 2024 Mar; Vol. 271 (3), pp. 1355-1365. Date of Electronic Publication: 2023 Nov 11.
Typ publikacji:
Journal Article
MeSH Terms:
Charcot-Marie-Tooth Disease*/diagnosis
Charcot-Marie-Tooth Disease*/genetics
Amyotrophic Lateral Sclerosis*
Adolescent ; Humans ; Mutation/genetics ; Phenotype ; Heterozygote ; Flavoproteins/genetics ; Phosphoric Monoester Hydrolases/genetics
Czasopismo naukowe
Tytuł:
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Autorzy:
Pernice HF; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Neurology and Experimental Neurology, Charité - Universitätsmedizin Berlin, Berlin, Germany.
O'Donnell LF; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Rossor AM; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Laura M; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Record CJ; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Skorupinska M; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Blake J; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Clinical Neurophysiology, Norfolk and Norwich University Hospital, Norwich, UK.
Poh R; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Polke J; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
Reilly MM; Centre for Neuromuscular Diseases (CNMD), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.
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Źródło:
Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2024 Mar; Vol. 29 (1), pp. 111-115. Date of Electronic Publication: 2024 Jan 07.
Typ publikacji:
Case Reports
MeSH Terms:
Ehlers-Danlos Syndrome*/genetics
Humans ; Female ; Aged ; Filamins/genetics ; Mutation ; Phenotype ; Heterozygote ; Ubiquitin Thiolesterase/genetics
Raport
Tytuł:
The genomic landscape of transposable elements in yeast hybrids is shaped by structural variation and genotype-specific modulation of transposition rate.
Autorzy:
Hénault M; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec, Canada.; Département de biochimie, microbiologie et bioinformatique, Université Laval, Québec, Canada.; Quebec Network for Research on Protein Function, Engineering, and Applications (PROTEO), Université Laval, Québec, Canada.; Université Laval Big Data Research Center (BDRC_UL), Québec, Canada.
Marsit S; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec, Canada.; Département de biochimie, microbiologie et bioinformatique, Université Laval, Québec, Canada.; Quebec Network for Research on Protein Function, Engineering, and Applications (PROTEO), Université Laval, Québec, Canada.; Université Laval Big Data Research Center (BDRC_UL), Québec, Canada.; Département de biologie, Université Laval, Québec, Canada.
Charron G; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec, Canada.; Quebec Network for Research on Protein Function, Engineering, and Applications (PROTEO), Université Laval, Québec, Canada.; Université Laval Big Data Research Center (BDRC_UL), Québec, Canada.; Département de biologie, Université Laval, Québec, Canada.
Landry CR; Institut de Biologie Intégrative et des Systèmes (IBIS), Université Laval, Québec, Canada.; Département de biochimie, microbiologie et bioinformatique, Université Laval, Québec, Canada.; Quebec Network for Research on Protein Function, Engineering, and Applications (PROTEO), Université Laval, Québec, Canada.; Université Laval Big Data Research Center (BDRC_UL), Québec, Canada.; Département de biologie, Université Laval, Québec, Canada.
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Źródło:
ELife [Elife] 2024 Feb 27; Vol. 12. Date of Electronic Publication: 2024 Feb 27.
Typ publikacji:
Journal Article
MeSH Terms:
Saccharomyces cerevisiae*/genetics
DNA Transposable Elements*/genetics
Genotype ; Genomics ; Heterozygote
Czasopismo naukowe
Tytuł:
Compound Heterozygosity in Hyper‑IgM Syndrome Type 3: Case Report and Literature Review.
Autorzy:
Majid S; Division of Allergy and Immunology, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York, NY, USA. .
Kimura N; Division of Allergy and Immunology, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York, NY, USA.
Lam F; Feinstein Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY, USA.
Bonagura V; Division of Allergy and Immunology, Department of Pediatrics, Steven and Alexandra Cohen Children's Medical Center of New York, New Hyde Park, New York, NY, USA.; Feinstein Institute for Medical Research, North Shore-Long Island Jewish Health System, Manhasset, New York, NY, USA.
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Źródło:
Journal of clinical immunology [J Clin Immunol] 2024 Feb 16; Vol. 44 (3), pp. 64. Date of Electronic Publication: 2024 Feb 16.
Typ publikacji:
Review; Case Reports; Letter
MeSH Terms:
Hyper-IgM Immunodeficiency Syndrome*/diagnosis
Hyper-IgM Immunodeficiency Syndrome*/genetics
Humans ; Heterozygote
Recenzja
Tytuł:
Improved classification and pathogenicity assessment by comprehensive functional studies in a large data set of KCNQ2 variants.
Autorzy:
Zhang Y; Human Phenome Institute, School of Life Sciences, Fudan University, Shanghai 200438, China; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai 200438, China; Institute of Molecular Physiology, Shenzhen Bay Laboratory, Shenzhen 518132, China. Electronic address: .
Xue Y; Human Phenome Institute, School of Life Sciences, Fudan University, Shanghai 200438, China; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai 200438, China; Institute of Molecular Physiology, Shenzhen Bay Laboratory, Shenzhen 518132, China. Electronic address: .
Ma Y; Department of Neurology, Children's Hospital of Fudan University, Shanghai 201102, China.
Du X; Department of Neurology, Children's Hospital of Fudan University, Shanghai 201102, China.
Lu B; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, China. Electronic address: .
Wang Y; Department of Neurology, Children's Hospital of Fudan University, Shanghai 201102, China. Electronic address: .
Yan Z; Human Phenome Institute, School of Life Sciences, Fudan University, Shanghai 200438, China; State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Institutes of Brain Science, Fudan University, Shanghai 200438, China; Institute of Molecular Physiology, Shenzhen Bay Laboratory, Shenzhen 518132, China. Electronic address: .
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Źródło:
Life sciences [Life Sci] 2024 Feb 15; Vol. 339, pp. 122378. Date of Electronic Publication: 2023 Dec 23.
Typ publikacji:
Journal Article
MeSH Terms:
Epilepsy*/genetics
Humans ; Virulence ; Mutation, Missense ; Phenotype ; Heterozygote ; KCNQ2 Potassium Channel/genetics
Czasopismo naukowe

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