A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43 [PDF]
Human Molecular Genetics, 1995 Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously assigned the disease locus to chromosome 14q23-q24. Here we report on a novel variant of ARVD, which is transmitted associated to 1q42-q43 and is characterized by a concealed form, showing effort ...
Andrea Nava +2 more
exaly +4 more sources
Journal of Functional Foods, 2021 Chinese acorn was widely used as a food supplement in eastern Asia. Q43 is a new anti-neuroinflammatory triterpenoid extracted from Chinese acorn. Our aim was to study the anti-neuroinflammatory mechanisms of Q43 using BV2 cells stimulated with lipopolysaccharide.
Jingwen Xu, Yihai Wang, Xiangjiu He
exaly +3 more sources
Clinical characterization and molecular analysis of X-linked juvenile retinoschisis in a northern Chinese cohort [PDF]
Frontiers in GeneticsPurposeThis study aims to explore the clinical features and genetic findings associated with X-linked juvenile retinoschisis (XLRS) in affected patients.MethodsThis study included 16 patients with XLRS from 13 unrelated families between 2016 and 2024 ...
Huihui Sun +8 more
doaj +2 more sources
The Autosomal Recessive Kenny–Caffey Syndrome Locus Maps to Chromosome 1q42–q43
Genomics, 1998 Kenny-Caffey syndrome (KCS) is an osteosclerotic bone dysplasia with associated hypocalcemia and ocular abnormalities. Both autosomal dominant (MIM127000) and autosomal recessive (MIM244460) inheritance patterns have been described. Using eight consanguineous Kuwaiti kindreds, a genome-wide search for linkage to the gene causing the autosomal recessive
George A Diaz +2 more
exaly +3 more sources
Assignment of the Human Weak Inward Rectifier K+Channel TWIK-1 Gene to Chromosome 1q42–q43
Genomics, 1996 This report describes the localization of the human weak inward rectifier potassium channel gene, TWIK-1, to human chromosome 1q42-43 using in situ hybridization. 15 refs., 1 fig.
Florian Lesage +2 more
exaly +3 more sources
Terminal deletion of chromosome 1(q43) in a female infant. [PDF]
Journal of Medical Genetics, 1988 G P, Garani +3 more
exaly +3 more sources
Building a Brief Multidomain Questionnaire for Gambling Dual Disorder: Psychometric Validation and RDoC-Based Dimensional Structure. [PDF]
Int J Methods Psychiatr ResABSTRACT Objectives Gambling Disorder (GD) frequently co‐occurs with other mental disorders, a clinical condition termed Gambling Dual Disorder (GDD) that is often overlooked. We aimed to develop and validate a brief multidomain questionnaire to assess GDD severity within a dimensional, transdiagnostic framework.
Basurte-Villamor I +6 more
europepmc +2 more sources
Assignment of the human angiotensin gene to chromosome 1q42–q43 by nonisotopic in situ hybridization
Genomics, 1990 E Boyd, N Morrison, E Clauser
exaly +2 more sources
A mixed data sampling approach to the asymmetric impacts of world oil price on macroeconomic variables in Vietnam [PDF]
Journal of Economics and Development, 2020 Purpose – This paper aims to analyse the asymmetric impacts of world oil price on macroeconomic variables in Vietnam, including domestic oil price, inflation and output growth.
Trinh Thi Tuyet Pham, Nhan Phan Ai Le
doaj +1 more source