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■ Abbreviation / Long Form : EDA / ectodermal dysplasia

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Total Number of Papers: 44
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Abbreviation:   EDA  (>> Co-occurring Abbreviation)
Long Form:   ectodermal dysplasia
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No. Year Title Co-occurring Abbreviation
2020 A novel NFKBIA variant substituting serine 36 of IkappaBalpha causes immunodeficiency with warts, bronchiectasis and juvenile rheumatoid arthritis in the absence of ectodermal dysplasia. GOF
2015 XEDAR activates the non-canonical NF-kappaB pathway. EDA-A2, MAP, NF-kappaB, TNFR, XEDAR
2012 Prenatal diagnosis of anhidrotic ectodermal dysplasia with unconventional loci abnormalities: a case report. ---
2011 A novel mutation of the bovine EDA gene associated with anhidrotic ectodermal dysplasia in Holstein cattle. ---
2009 Genetic basis of tooth agenesis. ---
2007 Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. DD, EDAR, EDARADD, NF-kB, TNF
2006 Ectodysplasin regulates the lymphotoxin-beta pathway for hair differentiation. LTbeta, Ta
2006 EDA signaling and skin appendage development. ---
2005 A point mutation of the ED1 gene in a Japanese family with X-linked hypohidrotic ectodermal dysplasia. ---
10  2005 X-linked anhidrotic ectodermal dysplasia disruption yields a mouse model for ocular surface disease and resultant blindness. ---
11  2005 [Prenatal diagnosis of X-linked anhidrotic ectodermal dysplasia with X-chromosome inversion]. ---
12  2004 Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia. NEMO
13  2003 [Cases analysis and clinical classification of oligodontia]. ---
14  2002 Different morphotypes of functional dentition in the lower molar region of tabby (EDA) mice. Ta
15  2002 Different morphotypes of the tabby (EDA) dentition in the mouse mandible result from a defect in the mesio-distal segmentation of dental epithelium. ED, Ta, WT
16  2002 EDA targets revealed by skin gene expression profiles of wild-type, Tabby and Tabby EDA-A1 transgenic mice. ---
17  2002 Mutation of the ectodysplasin-A gene results in bone defects in mice. ---
18  2002 The EDA gene is a target of, but does not regulate Wnt signaling. LEF1
19  2001 Ectodysplasin is released by proteolytic shedding and binds to the EDAR protein. ---
20  2001 Mutations in the EDA gene in three unrelated families reveal no apparent correlation between phenotype and genotype in the patients with an X-linked anhidrotic ectodermal dysplasia. SSCP
21  2001 Sequence polymorphisms of the EDA and the DL genes in the patients with an X-linked and an autosomal forms of anhidrotic ectodermal dysplasia. ---
22  2001 Signaling and subcellular localization of the TNF receptor Edar. NF-kappaB, TNF
23  2000 Two-amino acid molecular switch in an epithelial morphogen that regulates binding to two distinct receptors. ---
24  1999 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. TNF
25  1999 Ectodysplasin, a protein required for epithelial morphogenesis, is a novel TNF homologue and promotes cell-matrix adhesion. Ta, TNF
26  1999 Functional characterization of the promoter of the X-linked ectodermal dysplasia gene. bp
27  1998 A novel missense mutation (402C-->T) in exon 1 in the EDA gene in a family with X-linked hypohidrotic ectodermal dysplasia. PCR-SSCP
28  1998 Expression of the anhidrotic ectodermal dysplasia gene is reduced in skin cancer coinciding with reduced E-cadherin. E-CD
29  1998 Mutation in the regulatory region of the EDA gene coincides with the symptoms of anhidrotic ectodermal dysplasia. SSCP
30  1998 The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. ---
31  1998 The gene defective in anhidrotic ectodermal dysplasia is expressed in the developing epithelium, neuroectoderm, thymus, and bone. ---
32  1998 [Hereditary diseases with tooth anomalies and their causal genes]. AI, DI, OI, RS
33  1997 Anhidrotic ectodermal dysplasia (EDA) protein expressed in MCF-7 cells associates with cell membrane and induces rounding. ---
34  1997 Human genes for dental anomalies. AI, DI, OI
35  1996 Fine mapping of the EDA gene: a translocation breakpoint is associated with a CpG island that is transcribed. patient AnLy
36  1996 X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. ---
37  1994 Detection of de novo mutations and analysis of their origin in families with X linked hypohidrotic ectodermal dysplasia. ---
38  1993 Anhidrotic ectodermal dysplasia gene region cloned in yeast artificial chromosomes. ---
39  1993 Characterisation of molecular DNA rearrangements within the Xq12-q13.1 region, in three patients with X-linked hypohidrotic ectodermal dysplasia (EDA). FISH, YAC
40  1993 Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. ---
41  1993 Hypohidrotic (anhidrotic) ectodermal dysplasia: molecular genetic research and its clinical applications. ---
42  1992 High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. Ta
43  1992 Mapping around the Xq13.1 breakpoints of two X/A translocations in hypohidrotic ectodermal dysplasia (EDA) female patients. ---
44  1991 X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female. ---