Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia

Folia Histochemica et Cytobiologica

Volumn 39, Issue 2, 2001, Pages 113-114

  Kobielak, A ^a   Kobielak, K ^a   Wisniewski S A ^a   Midro, A T ^a   Trzeciak, W H ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

Author keywords

DL gene; Ectodysplasin A; EDA gene; EDAR; Polymorphisms

Indexed keywords

ENZYME; GENE PRODUCT;

ANHIDROTIC ECTODERMAL DYSPLASIA; ARTICLE; AUTOSOMAL DISORDER; CELL COMMUNICATION; CLINICAL ARTICLE; CONTROLLED STUDY; COST; DISEASE CLASSIFICATION; EMBRYO GROWTH; EXON; GENE; GENE MUTATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC SCREENING; HUMAN; INTRON; OLIGODONTIA; PHENOTYPE; RESTRICTION FRAGMENT; SCANTY HAIR; SEQUENCE ANALYSIS; SWEAT GLAND DISEASE; X CHROMOSOME LINKED DISORDER;

EID: 0035034514     PISSN: 02398508     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

1. The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutation in collagenous repeats
2. Ectodysplasin is a collagenous trimeric type II membrane protein with a tumor necrosis factor-like domain and co-localizes with cytoskeletal structures at lateral and apical surfaces of cells
3. Scarcity of mutations detected in families with X-linked hypohidrotic ectodermal dysplasia: Diagnostic implications
4. Involvement of a novel Tnf receptor homologue in hair follicle induction
5. X-Linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein
6. Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia
7. Recurrent deletion of the region encoding two (Gly-X-Y) repeats in patients with anhidrotic ectodermal dysplasia indicates an important role for collagen-like domain of the EDA gene product - Ectodysplasin A
8. Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion
9. Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations
10. Mutation in the homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia
11. Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction
12. Coupled amplification and sequencing of genomic DNA