A 17q24.3 duplication identified in a large Chinese family with brachydactyly‐anonychia
Molecular Genetics & Genomic Medicine, 2020 Background Brachydactyly (BD) is a rare autosomal dominant inherited disease characterized by shortness of the fingers and/or toes, which has been classified into the subtypes A–E.
Mohan Liu +3 more
doaj +1 more source
The Journal of Physiology, Volume 604, Issue 5, Page 1820-1839, 1 March 2026.Abstract figure legend Inwardly rectifying (Kir2) and ATP‐sensitive (KATP) potassium channels are functionally expressed in human pulmonary artery endothelial and smooth muscle cells. The schematic illustrates how Kir2‐ and KATP‐mediated K+ efflux contributes to VM regulation and pulmonary vascular tone.
Bianca Barreira +7 more
wiley +1 more source
Genetic Analysis of Arrhythmogenic Diseases in the Era of NGS: The Complexity of Clinical Decision-Making in Brugada Syndrome. [PDF]
PLoS ONE, 2015 The use of next-generation sequencing enables a rapid analysis of many genes associated with sudden cardiac death in diseases like Brugada Syndrome. Genetic variation is identified and associated with 30-35% of cases of Brugada Syndrome, with nearly 20 ...
Catarina Allegue +11 more
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Multi‐Omics Analysis Reveals Sex‐Specific Signatures for BCG Vaccine Efficacy
European Journal of Immunology, Volume 56, Issue 2, February 2026.Sex‐specific pre‐vaccination immune landscapes associated with effective BCG vaccine responses. Male high responders exhibit a monocyte‐enriched, pro‐inflammatory innate immune profile, whereas female high responders display immune signatures associated with enhanced adaptive immune responses. ABSTRACT Vaccines are a cornerstone of global public health,
Qiuyao Zhan +13 more
wiley +1 more source
Multiple Promoter Elements Interact to Control the Transcription of the Potassium Channel Gene, KCNJ2 [PDF]
Journal of Biological Chemistry, 1998 Potassium channels play important roles in shaping the electrical properties of excitable cells. Toward understanding the transcriptional regulation of a member of the inwardly rectifying potassium channel family, we have characterized the genomic structure and 5'-proximal promoter of the murine Kcnj2 gene (also referred to as IRK1 and Kir2.1).
J B, Redell, B L, Tempel
openaire +2 more sources
Astrocytic TCF7L2 Impacts Brain Osmoregulation and Restricts Neuronal Excitability
Glia, Volume 74, Issue 2, February 2026.Astrocytic TCF7L2 impacts extracellular glutamate and glutamine levels. Loss of astrocytic TCF7L2 disrupts extracellular potassium clearance. TCF7L2‐dependent astrocytic changes reduce neuronal excitability. ABSTRACT Astrocytes differentiate and mature during postnatal development, but the molecular mechanisms linking their maturation to neuronal ...
Mariusz Popek +10 more
wiley +1 more source
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) [PDF]
, 2017 Aims Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes encoding potassium and calcium channel subunits have been ...
Abriel, Hugues +14 more
core
Interactions between inflammatory signals and the progesterone receptor in regulating gene expression in pregnant human uterine myocytes [PDF]
, 2012 The absence of a fall in circulating progesterone levels has led to the concept that human labour is associated with ‘functional progesterone withdrawal’ caused through changes in the expression or function of progesterone receptor (PR).
Barton, Geraint +9 more
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The Intersection of m6A Methylation and Immune Response in PCOS: A Bioinformatics Perspective
Immunity, Inflammation and Disease, Volume 14, Issue 2, February 2026.N6‐methyladenosine RNA methylation regulators are intricately linked with the development of polycystic ovary syndrome (PCOS) and may influence immune cell infiltration in affected individuals. This study enhances our understanding of the molecular interactions in PCOS and suggests potential biomarkers for diagnosis and targets for therapeutic ...
Wenting Xu +8 more
wiley +1 more source
Cardiac electrical defects in progeroid mice and Hutchinson-Gilford progeria syndrome patients with nuclear lamina alterations [PDF]
, 2016 Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death.
Benítez Iglesias, Raúl +14 more
core +2 more sources