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Investigation of an MCM8 gene variant in women with premature ovarian insufficiency.
Einstein (Sao Paulo)
November 2024
Centro Universitário FMABC, Santo André, SP, Brazil.
Article Synopsis
- - The MCM8 gene is crucial for repairing DNA breaks and maintaining cell health, and its dysfunction can lead to cell death, especially in relation to primary ovarian insufficiency.
- - The study aimed to evaluate a specific variant of the MCM8 gene (NG_042869.1:g.40270G>A) in women with primary ovarian insufficiency by comparing samples from affected individuals to those from a control group.
- - Results showed the variant was present in one sample from the case group but absent in the control group, indicating it may be a rare, pathogenic variant associated with primary ovarian insufficiency in the studied population.
A homozygous nonsense variant in HENMT1 causes male infertility in humans and mice.
Andrology
September 2024
Division of Reproduction and Genetics, First Affiliated Hospital of USTC, Hefei National Research Center for Physical Sciences at the Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, Biomedical Sciences and Health Laboratory of Anhui Province, Institute of Health and Medicine, Hefei Comprehensive National Science Center, University of Science and Technology of China, Hefei, China.
Background: HENMT1 encodes a small RNA methyltransferase that plays a crucial role in mouse spermatogenesis through the methylation of the 3' end of PIWI-interacting RNAs.
Objectives: Our study aims to elucidate the relationship between HENMT1 and male infertility in humans.
Materials And Methods: A consanguineous family, having a single non-obstructive azoospermia patient was recruited for pathogenic variants screening.
Revisiting double-negative T cells in autoimmune lymphoproliferative immunodeficiencies: a case series.
Allergol Immunopathol (Madr)
September 2024
Clinical Research Development Center, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Background: Elevated level of double-negative T (DNT) cells is a historical hallmark of autoimmune lymphoproliferative syndrome (ALPS) diagnosis. However, the peripheral blood level of DNT cells might also be compromised in autoimmune lymphoproliferative immunodeficiencies (ALPID) other than ALPS, inattention to which would increase the delay in diagnosis of the underlying genetic defect and hinder disease-specific treatment.
Materials And Methods: This cross-sectional study recruited patients suffering from ALPID (exclusion of ALPS) with established genetic diagnosis.
Epidermodysplasia Verruciformis and Vδ2 γδ T-cell Expansion in STK4 Deficiency.
J Clin Immunol
August 2024
Division of Digestive and Liver Diseases, Department of Internal Medicine, UT Southwestern Medical Center, 5323 Harry Hines Blvd, Suite J5.136, Dallas, TX, 75390-9151, USA.
Article Synopsis
- * Genetic testing revealed a new biallelic STK4 mutation, correlating with low CD4 T-cell counts but normal CD3 cell levels, predominantly showing an expansion of a specific type of T-cell (Vδ2 γδ T cells).
- * This γδ T-cell expansion may serve as a compensatory immune response, helping to protect individuals with weakened immune systems from viral infections.
Clinical characteristics and prognostic value of autoantibody profile in children with monogenic lupus.
J Rheum Dis
July 2024
Depatrment of Pedaitric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Objective: To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus.
Methods: This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data.
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