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Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder classically characterized by distinctive facies, growth retardation, intellectual disability, feeding difficulties, and multiple organ system anomalies. Previously, the diagnosis of CdLS was based mainly on identifying the typical phenotype in patients. However, with the advances in clinical molecular genetic diagnostic techniques, more patients, especially patients with milder phenotypes, are being diagnosed from detecting pathogenic mutation.
This article was published in the following journal.
Name: Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology
To analyze the genotype-phenotype correlation in a case with Cornelia de Lange syndrome (CdLS).
Metal-dependent histone deacetylases (HDACs) are key epigenetic regulators that represent promising therapeutic targets for the treatment of numerous human diseases. Yet, the currently FDA-approved HD...
HDAC8 is one of the crucial enzymes involved in malignancy. Structural explorations of HDAC8 inhibitory activity and selectivity are required.
Choroideremia (CHM) is a rare inherited retinal degeneration resulting from mutation of the CHM gene, which results in absence of functional Rab escort protein 1 (REP1). We evaluated retinal gene ther...
Enzymes from the histone deacetylase (HDAC) family are highly regulated by different mechanisms. However, only very limited knowledge exists about the regulation of HDAC8, an established target in mul...
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...
Various diagnostic methods are available for CMV infection. But none of them could be a standard and highly valuable. Our first goal is to setup a series of molecular diagnostic tools for ...
The use of techniques that produce a functional MUTATION or an effect on GENE EXPRESSION of a specific gene of interest in order to identify the role or activity of the gene product of that gene.
Vaccines used in conjunction with diagnostic tests to differentiate vaccinated animals from carrier animals. Marker vaccines can be either a subunit or a gene-deleted vaccine.
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.
A mutation that causes a decrease in or elimination of a gene product's activity.
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...