Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.
Gac Med Mex
January 2025
Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.
Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.
Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.
Distinct genetic risk loci between biopsy-proven renal and non-renal lupus: a 10-year longitudinal cohort.
Rheumatology (Oxford)
January 2025
Division of Rheumatology & Clinical Immunology, Department of Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong.
Objective: Systemic lupus erythematosus (SLE) is a heterogeneous disease which manifests as different subphenotypes. Distinct subphenotypes, such as lupus nephritis (LN), have been associated with increased genetic risk, but prior studies have been limited by cross-sectional and imprecisely subphenotyped cohorts. This study investigated the genetic basis for LN using a longitudinal cohort of distinctly subphenotyped patients.
View Article and Find Full Text PDFGermline variants detected by multigene panel testing in patients with suspected hereditary breast cancer.
Surg Today
January 2025
Department of Surgery, Division of Breast and Endocrine Surgery, School of Medicine, Hyogo Medical University, 1-1 Mukogawa-cho, Nishinomiya, Hyogo, 663-8501, Japan.
Purpose: To clarify the status of multigene panel testing for suspected hereditary breast cancer in our institute, and disclose the characteristics of the variants detected.
Methods: This was a retrospective study of individuals who underwent next-generation sequencing-based multigene panel testing at our institute to investigate hereditary genetic variants for suspected hereditary breast cancer.
Results: We identified 36 women who underwent multigene panel testing: 8 (22.
Circadian rhythm and lithium response in bipolar disorder: Insights from actigraphy and NR1D1 polymorphism.
Chronobiol Int
January 2025
Department of Child and Adolescent Psychiatry, Balıkesir Atatürk City Hospital, Balıkesir, Turkey.
Lithium has long been used as a cornerstone mood stabilizer in the treatment of bipolar disorder (BD). However, reliable biomarkers that can predict which patients will respond better to lithium are still lacking. This study aims to evaluate the potential of NR1D1 gene SNP; rs2071427 and actigraphic measurements in predicting lithium response.
View Article and Find Full Text PDFAn X-Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene.
Mov Disord
January 2025
Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.
Objective: Pathogenic variants in B-cell receptor-associated protein (BCAP31) are associated with X-linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non-progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes one of the most abundant chaperones, with several functions including acting as a negative regulator of endoplasmic reticulum (ER) calcium ion (Ca) concentration.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!