Аutosomal Dominant Oculodental-Digital Dysplasia with Mutation in Gene GJA1 (Clinical Case)
Oftalʹmologiâ, 2021 The purpose: to describe clinical cases of oculodental-digital dysplasia (ODDD, OMIM #164200) with mutation in GJA1 (OMIM 121014) with molecular genetic verification of the diagnosis.Methods. The article describes the clinical case of oculodental-digital
I. V. Zolnikova +4 more
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MiR-206 improves intervertebral disk degeneration by targeting GJA1
Journal of Orthopaedic Surgery and Research, 2022 Background A large amount of evidence suggested that miRNA was involved in the progression of intervertebral disk degeneration (IDD). The purpose of our study was to explore the function and potential mechanism of miR-206/GJA1 axis in IDD.
Peng Zhou, Peng Xu, Wantao Yu, Huan Li
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KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome. [PDF]
JACC Case RepBackground: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by desmosomal variants. Nondesmosomal ARVC is rare. Case summary: A 31-year-old athlete experienced sudden cardiac death. Autopsy revealed ARVC and syndactyly.
Tramèr L +9 more
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Towards the Identification and Characterization of Putative Adult Human Lens Epithelial Stem Cells
Cells, 2023 The anterior lens epithelium has the ability to differentiate into lens fibres throughout its life. The present study aims to identify and functionally characterize the adult stem cells in the human lens epithelium.
Pandi Saranya +4 more
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Expression patterns of Phf5a/PHF5A and Gja1/GJA1 in rat and human endometrial cancer [PDF]
, 2013 Endometrial adenocarcinoma is the most frequently diagnosed cancer of the female genital tract in the western world. Studies of complex diseases can be difficult to perform on human tumor samples due to the high genetic heterogeneity in human. The use of
Eva Falck +4 more
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Neurobiology of Disease, 2023 Cerebral cavernous malformation type-3 (CCM3) is a type of brain vascular malformation caused by mutations in programmed cell death protein-10 (PDCD10).
Chelsea M. Phillips +4 more
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Scientific Reports, 2021 Atrial fibrillation (AF) tachycardia causes heart failure and requires more attention. The genetic background of individual heart rate (HR) variations during AF are unclear.
Sho Okamura +10 more
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Replication of the Association of the 6q22.31c Locus near with Pulse Rate in the Korean Population [PDF]
Genomics & Informatics, 2012 Pulse rate is known to be related to diverse phenotypes, such as cardiovascular diseases, lifespan, arrhythmia, hypertension, lipids, diabetes, and menopause. We have reported two genomewide significant genetic loci responsible for the variation in pulse
Nam Hee Kim +3 more
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Diminished angiogenesis in the cornea of mice with heterologous deletion of Connexin 43 gene (Gja1).
Brazilian Journal of Veterinary Pathology, 2010 Angiogenesis is involved in several physiological and pathological processes, and the proliferation of endothelial cells is a central event in the generation of new blood vessels. Gap junctions (GJ) are membrane structures that communicate adjacent cells,
Lucas C. S. Rodrigues +8 more
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Dominant De Novo Mutations in GJA1 Cause Erythrokeratodermia Variabilis et Progressiva, without Features of Oculodentodigital Dysplasia [PDF]
, 2015 Genetic investigation of inherited skin disorders has informed the understanding of skin self-renewal, differentiation, and barrier function. Erythrokeratodermia variabilis et progressiva (EKVP) is a rare, inherited skin disease that is characterized by ...
Paller, Amy S. +10 more
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