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ectodermal dysplasia (ED) is a group of hereditary disorders affecting the development of ectodermal organs. There are more than 200 types of ED caused by the mutations in approximately 50 genes. Nonetheless, the mutations in some genes have been found in only one family affected with ED. Identification of more families with mutations in the same gene would confirm their etiologic roles. This article is protected by copyright. All rights reserved.
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Name: The British journal of dermatology
We report a patient with congenital complex pituitary hormone deficiency (CPHD) with intestinal malrotation and anal atresia. We identified a de novo heterozygous mutation, c.664T > G (p.Cys222Gly...
To study the clinical phenotype and gene mutation analysis of a hereditary abnormal fibrinogenemia family and explore its molecular pathogenesis.
Background Neonatal severe hyperparathyroidism (NSHPT) is commonly treated with either parathyroidectomy or pharmacologic agents with varying efficacy and numerous side effects. Reports of using cinac...
Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac de...
We investigated the prognostic role of somatic mutations in allogeneic hematopoietic cell transplantation (HCT) for de novo myelodysplastic syndrome (MDS). We performed targeted deep sequencing analys...
Ectodermal dysplasia associated with p63 is a rare disease which, in addition to limbic abnormalities, primarily affects the skin and cornea. The most common forms are called Ectrodactyly,...
The purpose of this study is to find a gene or its mutation (an altered gene) that puts individuals at risk for developing HE or HPP.
Purpose: 1. Screening of large samples is to search the gene mutation of the breast cancer susceptibility gene (BRCA1 and BRCA2) in Chinese high risk group. 2. To build th...
French Digestive Polyposis Cohorte Family Adenomatous Polyposis With APC and MYH Gene Mutations , Cowden's Disease With PTEN Gene Mutation, Peutz Jeghers Disease With STK 11 Gene Mutation ,juvénil Polyposis With SMAD 4 Gene Mutation , Serrated and Hyperp
French cohorte about polyposis digestive diseases
The purpose of this study is to determine whether inherited thrombophilias (tendency toward blood clotting) increase the risk of failure of the embryo to implant in IVF. The specific cond...
An X-linked form of ectodermal dysplasia which results from mutations of the gene encoding ECTODYSPLASIN.
An autosomal dominant form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR.
Mutation process that restores the wild-type PHENOTYPE in an organism possessing a mutationally altered GENOTYPE. The second "suppressor" mutation may be on a different gene, on the same gene but located at a distance from the site of the primary mutation, or in extrachromosomal genes (EXTRACHROMOSOMAL INHERITANCE).
A mutation that results in an increase in a gene's activity or in acquiring a new molecular function or a new pattern of gene expression.
An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.
Bioinformatics is the application of computer software and hardware to the management of biological data to create useful information. Computers are used to gather, store, analyze and integrate biological and genetic information which can then be applied...