PMID- 10594760
OWN - NLM
STAT- MEDLINE
DCOM- 20000113
LR  - 20090929
IS  - 0022-202X (Print)
IS  - 0022-202X (Linking)
VI  - 113
IP  - 6
DP  - 1999 Dec
TI  - Identification of a novel mutation R42P in the gap junction protein beta-3
      associated with autosomal dominant erythrokeratoderma variabilis.
PG  - 1119-22
AB  - We report a missense mutation in the gap junction protein beta-3 (encoding
      Connexin 31), which was detected in only the affected members of a family in
      which the autosomal dominant skin disease erythrokeratoderma variabilis was
      segregating. The nucleotide change results in an arginine to proline substitution
      in codon 42. This residue is positioned on the first transmembrane/first
      extracellular domain of the gap junction protein with the mutation replacing a
      negatively charged residue with a nonpolar residue. This change may disrupt the
      conformation of the protein and voltage gating polarity leading to impaired
      channel function.
FAU - Wilgoss, A
AU  - Wilgoss A
AD  - Centre for Cutaneous Research, St. Bartholomew's and the Royal London Hospital
      School of Medicine and Dentistry, Queen Mary and Westfield College, London, UK.
FAU - Leigh, I M
AU  - Leigh IM
FAU - Barnes, M R
AU  - Barnes MR
FAU - Dopping-Hepenstal, P
AU  - Dopping-Hepenstal P
FAU - Eady, R A
AU  - Eady RA
FAU - Walter, J M
AU  - Walter JM
FAU - Kennedy, C T
AU  - Kennedy CT
FAU - Kelsell, D P
AU  - Kelsell DP
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Invest Dermatol
JT  - The Journal of investigative dermatology
JID - 0426720
RN  - 0 (Connexins)
RN  - 136362-16-8 (GJB3 protein, human)
SB  - IM
MH  - Connexins/*genetics
MH  - Dermatitis, Exfoliative/*genetics/pathology
MH  - Female
MH  - Humans
MH  - Ichthyosis/*genetics/pathology
MH  - Keratosis/*genetics/pathology
MH  - Male
MH  - *Mutation
EDAT- 1999/12/14 00:00
MHDA- 1999/12/14 00:01
CRDT- 1999/12/14 00:00
PHST- 1999/12/14 00:00 [pubmed]
PHST- 1999/12/14 00:01 [medline]
PHST- 1999/12/14 00:00 [entrez]
AID - S0022-202X(15)40707-9 [pii]
AID - 10.1046/j.1523-1747.1999.00792.x [doi]
PST - ppublish
SO  - J Invest Dermatol. 1999 Dec;113(6):1119-22. doi:
      10.1046/j.1523-1747.1999.00792.x.