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Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Zusätzlich bieten wir Ihnen DENN/MADD Domain Containing 1A Proteine (3) und und viele weitere Produktgruppen zu diesem Protein an.
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The association of DENND1A rs10818854 and rs10986105 variants with PCOS in Tunisian but not Bahraini women confirms the dependence of this association on the ethnic/racial origin of study subjects.
Genome-wide association studies have identified DENND1A as a candidate gene for polycystic ovary syndrome (PCOS). PCOS theca cells are shown to overexpress DENND1A splice variant 2 (V2), but not V1. Also, the genetic variation 330 bp upstream of exon 20A is not associated with VE variant expression.
DENND1A gene variant is likely to have influence on PCOS risk.
This meta-analysis suggested that rs2479106 and rs10818854 polymorphisms in the DENND1A gene were associated with increased risk of polycystic ovary syndrome
The guanine nucleotide exchange factor activity of connecdenn 1 and 2 are autoinhibited, and this is regulated by Akt activation downstream of insulin stimulation.
We demonstrated lack of association of DENND1A SNPs rs10818854, rs2479106, and rs10986105, previously associated with PCOS in Asians, with PCOS in Bahraini Arab women.
sequence analysis of the DENND1A gene of patients with PCOS did not identify alterations that alone could be responsible for the PCOS pathogenesis
DENND1A, plays a key role in the hyperandrogenemia associated with polycystic ovary syndrome.
THADA and DENND1A, carry risk alleles that are associated with endocrine and metabolic disturbances in PCOS patients of Han Chinese descent.
Our results suggest that SNPs rs2479106 in gene DENND1A and rs13405728 in gene LHCGR are associated with endometrioid adenocarcinoma.
The rs2479106 G allele was associated with decreased PCOS susceptibility
Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry.
At least two of the PCOS susceptibility loci identified in the Chinese PCOS GWAS (DENND1A and THADA) are also associated with PCOS in European derived populations.
Connecdenn is a component of the endocytic machinery functioning in synaptic vesicle endocytosis, providing the first evidence of a role for a DENN domain-containing protein in endocytosis.
Clathrin (see MIM 118955)-mediated endocytosis is a major mechanism for internalization of proteins and lipids. Members of the connecdenn family, such as DENND1A, function as guanine nucleotide exchange factors (GEFs) for the early endosomal small GTPase RAB35 (MIM 604199) and bind to clathrin and clathrin adaptor protein-2 (AP2\; see MIM 601024). Thus, connecdenns link RAB35 activation with the clathrin machinery (Marat and McPherson, 2010
DENN domain-containing protein 1A
, DENN/MADD domain containing 1A
, connecdenn 1