Genotype-phenotype correlation in XLHED: insights into the biology of ectodysplasin

Genotype-phenotype correlation in XLHED: insights into the biology of ectodysplasin

X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common of the ectodermal dysplasias, with a classic presentation of hypodontia, hypohidrosis, hypotrichosis and secretory gland hypoplasia. Mutations in the ectodysplasin gene (EDA) underlie XLHED with nearly 200 different mutations reported. EDA encodes a type 2 transmembrane protein of the TNF family (EDAA1), the active form of wh...

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy: Insights into Genotype-Phenotype Correlation

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare autosomal recessive disease, caused by mutations of a single gene named autoimmune regulator gene (AIRE) which results in a failure of T cell tolerance within the thymus. Chronic mucocutaneous candidiasis, chronic hypoparathyroidism, and Addison's disease are the hallmarks of the syndrome. APECED is also character...

Emerging insights into the biology of metastasis: A review article

Metastasis means the dissemination of the cancer cells from one organ to another which is not directly connected to the primary site. Metastasis has a crucial role in the prognosis of cancer patients. A few theories, different types of cell and several molecular pathways have been proposed to explain the mechanism of metastasis. In this work, the related articles in the limited period of time, ...

Chromosome Duplication (14q) and The Genotype Phenotype Correlation

New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype.

OBJECTIVE To clarify the genotype-phenotype correlation and elucidate the role of digenic inheritance in cystinuria. METHODS 164 probands from the International Cystinuria Consortium were screened for mutations in SLC3A1 (type A) and SLC7A9 (type B) and classified on the basis of urine excretion of cystine and dibasic amino acids by obligate heterozygotes into 37 type I (silent heterozygotes)...