Recurrent deletion of the region encoding two (Gly-X-Y) repeats in patients with anhidrotic ectodermal dysplasia indicates important role for collagen-like domain of the EDA gene product - Ectodysplasin-A

Pediatric Pathology and Molecular Medicine

Volumn 19, Issue 6, 2000, Pages 425-432

  Kobielak, K ^a   Kobielak, A ^a   Roszkiewicz, J ^a   Limon, J ^a   Trzeciak, W H ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

(Gly X Y) repeats; Ectodysplasin A; EDA gene

Indexed keywords

COLLAGEN; ECTODYSPLASIN A; GENE PRODUCT; GLYCINE; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANHIDROTIC ECTODERMAL DYSPLASIA; ARTICLE; CASE REPORT; CLINICAL FEATURE; EXON; GENE AMPLIFICATION; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; HUMAN CELL; MALE; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 0034525190     PISSN: 15227952     EISSN: None     Source Type: Journal    
DOI: 10.1080/152279500750046188     Document Type: Article

References (14)

1. Christ-Siemens-Touraine syndrome: Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers
2. X-Linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
3. Scarcity of mutations detected in families with X-linked hypohidrotic ectodermal dysplasia: Diagnostic implications
4. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia
5. Cloning of Tabby, the murine homolog of the human EDA gene: Evidence for a membrane-associated protein with a short collagenous domain
6. The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains
7. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
8. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutation in collagenous repeats
9. Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding
10. Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion
11. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
12. Coupled amplification and sequencing of genomic DNA