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Cover Image, Volume 37, Issue 1
Publication year - 2016
Publication title -
human mutation
Language(s) - English
Resource type - Reports
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22941
Subject(s) - proband , missense mutation , biology , connective tissue , extracellular matrix , endoplasmic reticulum , mutation , genetics , pathology , medicine , gene
On the cover : A heterozygous genetic lesion in a family suffering from a connective tissue disorder results in the p.A22T missense mutation in the signal peptide cleavage site of the extracellular matrix protein EMILIN1. This mutation causes a reduction in extracellular matrix deposition, an increased cellular apoptosis, and an abnormal accumulation of EMILIN‐1 in the endoplasmic reticulum. Top, immunofluorescence staining of EMILIN‐1 (green) in normal (left) and proband (right) skin biopsies; bottom, normal (left) and proband (right) dermal fibroblasts. See Capuano et al., page 84 in this issue.