Related Experiment Videos
Connexin mutations in skin disease and hearing loss
D P Kelsell1, W L Di, M J Houseman
1Centre for Cutaneous Research, St. Bartholomews' and the Royal London School of Medicine and Dentistry, Queen Mary, University of London, 2 Newark Street, Whitechapel, London, E1 2AT, United Kingdom. kelsell@icrf.icnet.uk
American Journal of Human Genetics
|February 17, 2001
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
A novel homozygous nonsense mutation in CAST associated with PLACK syndrome.
Cell and tissue research·2019
Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
The British journal of dermatology·2018
Acral peeling skin syndrome associated with a novel CSTA gene mutation.
Clinical and experimental dermatology·2015
AKT1-mediated Lamin A/C degradation is required for nuclear degradation and normal epidermal terminal differentiation.
Cell death and differentiation·2015
Recessive oligodontia linked to a homozygous loss-of-function mutation in the SMOC2 gene.
Archives of oral biology·2013
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
American journal of human genetics·2026
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
American journal of human genetics·2026
Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.
American journal of human genetics·2026
Shared genetic basis and structure of syndromic and normal facial variation.
American journal of human genetics·2026
The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.
American journal of human genetics·2026
Shared inheritance reveals landscape of somatic and germline cancer risk in TP53.
American journal of human genetics·2026
Neurocutaneous system: Is the skin a big eye with deep brain connections?
Dermatology reports·2026
No Evidence for a Genetic Causal Association Between Smoking and Urticaria: A Mendelian Randomization Study.
Clinical, cosmetic and investigational dermatology·2026