Track topics on Twitter Track topics that are important to you
Polycystic ovary syndrome is a complex endocrine condition with chronic inflammation. Prostaglandin E2 (PGE2) is a proinflammatory factor with an increased expression in the serum of women with polycystic ovary syndrome. Zinc finger gene 217 (ZNF217) is known as a candidate gene for polycystic ovary syndrome. We aimed to investigate the relationship between ZNF217 and PGE2 in polycystic ovary syndrome.
This article was published in the following journal.
Name: Acta obstetricia et gynecologica Scandinavica
The autosomal recessive demyelinating form of Charcot-Marie-Tooth can be due to SH3TC2 gene pathogenic variants (CMT4C, AR-CMTde-SH3TC2). We report on a series of 13 patients with AR-CMTde-SH3TC2 amon...
Intellectual disability (ID) is a non-specific phenotype present in a genetically heterogeneous group of disorders. The genetic cause of ID remains elusive in the majority of patients due to this extr...
The Hox gene labial (lab) governs the formation of the tritocerebral head segment in insects and spiders. However, the morphology that results from lab action is very different in the two groups. In i...
Gene set analysis is a popular approach to examine the association between a predefined gene set and a phenotype. Few methods have been developed for a continuous phenotype. However, often not all the...
Bicuspid aortic valve (BAV) formation is genetically determined, with reduced penetrance and variable expressivity. NOTCH1 is a proven candidate gene and its mutations have been found in familial and ...
Multiple myeloma (MM) is blood disorder characterized by the detection of a monoclonal paraprotein in serum or urine, which is often associated with the presence of clonal plasma cells (PC...
The ultimate goal of this study is to find specific polymorphism of candidate genes associated with endophenotypes and/or phenomenological phenotypes of ADHD. We propose to replicate the a...
Phase 3, open-label, single-arm, single-dose, trial of AVXS-101 (gene replacement therapy) in patients with spinal muscular atrophy (SMA) Type 1 who meet enrollment criteria and are geneti...
To reveal the genetic determinants of the treatment outcome of escitalopram in depressed patients (by using candidate gene approach and whole genome scanning).
Assessment of the impact of oral Human Milk Oligosaccharides (HMO) application on acute diarrhoea and the development of prolonged and persistent diarrhoea in paediatric patients hospitali...
A transcription factor that consists of 8 CYS2-HIS2 ZINC FINGERS flanking a central HOMEOBOX. It binds to the 5'-CACCT-3' DNA sequence located within E-BOX ELEMENTS of many genes essential for embryonic growth and development and regulates their activity; it represses transcription of the E-CADHERIN gene. Mutations in the ZEB2 gene are associated with MOWAT-WILSON SYNDROME.
A Krupple-type transcription factor consisting of an N-terminal BTB DOMAIN and nine CYS2-HIS2 ZINC FINGERS. It localizes to the nucleus and regulates cell cycle progression and gene expression for tissue development and homeostasis; it may also function as an epigenetic regulator through its interactions with HISTONE DEACETYLASE. Genetic rearrangements involving the ZBTB16 gene are associated with ACUTE PROMYELOCYTIC LEUKEMIA.
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
A transcriptional activator that contains five adjacent CYS2-HIS2 ZINC FINGERS. It functions in the hedgehog signaling pathway and is required for normal embryonic development. Mutations in the GLI2 gene are associated with type 9 HOLOPROSENCEPHALY and type 2 PALLISTER-HALL SYNDROME.
An Sp transcription factor that contains three CYS2-HIS2 ZINC FINGERS. It binds to GC RICH SEQUENCES and performs an essential function in regulating gene expression for differentiation of OSTEOBLASTS. Mutations in the SP7 gene are associated with type 12 OSTEOGENESIS IMPERFECTA.
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...
Pancreatitis Acute pancreatitis is inflammation of the pancreas caused by the release of activated pancreatic enzymes. Common triggers are biliary tract disease and chronic heavy alcohol intake. Diagnosis is based on clinical presentation...