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a novel ACD (show ACD ELISA Kits) mutation(p.G223V)is detected; ACD (show ACD ELISA Kits) is a novel gene involved in childhood pre-B acute lymphoblastic leukemia and may play a functional role in enhancing leukemia cell survival
The data support a causal relationship between a TPP1 (show TPP1 ELISA Kits) mutation and bone marrow disorders in a family.
Clustering of novel mutations in the POT1 (show POT1 ELISA Kits) binding domain of ACD (show ACD ELISA Kits) was statistically higher (P = .005) in melanoma probands compared with population control individuals (n = 6785).
Shelterin protein TPP 1 (show TPP1 ELISA Kits) interacts with hTERT and recruits hTERT onto the telomeres, suggesting that TPP 1 (show TPP1 ELISA Kits) might be involved in regulation of telomere shortening.
A mutation in mouse Pak1ip1 causes orofacial clefting while human PAK1IP1 maps to 6p24 translocation breaking points associated with orofacial clefting.
POT1 (show POT1 ELISA Kits)-TPP1 (show TPP1 ELISA Kits) binds telomeric DNA in a coordinated manner to facilitate assembly of the nucleoprotein complexes into a state that is more accessible to enzymatic activity.
Study shows that the OB-fold domain of the telomere-binding protein TPP1 (show TPP1 ELISA Kits) recruits telomerase to telomeres through an association with the telomerase reverse transcriptase TERT (show TERT ELISA Kits); data define a potential interface for telomerase-TPP1 (show TPP1 ELISA Kits) interaction required for telomere maintenance and implicate defective telomerase recruitment in telomerase-related disease.
a paper that firstly reported cloning of human TTP1 (show COPRS ELISA Kits) (PTOP) and its biological function at telomere. TPP1 (show TPP1 ELISA Kits) interacts with both POT1 (show POT1 ELISA Kits) and TIN2 (show TINF2 ELISA Kits), heterodimerizes with POT1 (show POT1 ELISA Kits) and regulates POT1 (show POT1 ELISA Kits) telomeric recruitment and telomere length.
The presence of dysfunctional telomeres in chronic lymphocytic leukemia did not correlate with telomere shortening or chromatin marks deregulation but with a down-regulation of 2 shelterin genes: ACD (show ACD ELISA Kits) and TINF2 (show TINF2 ELISA Kits).
Results support a model in which POT1 (show POT1 ELISA Kits)-TPP1 (show TPP1 ELISA Kits) enhances telomerase processivity in a manner markedly different from the sliding clamps used by DNA polymerases.
Results suggest that the PAK-PIX-GIT1 complex is critical for Erk-dependent myosin phosphorylation and vascular permeability.
This gene encodes a protein that is involved in telomere function. This protein is one of six core proteins in the telosome/shelterin telomeric complex, which functions to maintain telomere length and to protect telomere ends. Through its interaction with other components, this protein plays a key role in the assembly and stabilization of this complex, and it mediates the access of telomerase to the telomere. Multiple transcript variants encoding different isoforms have been found for this gene. This gene, which is also referred to as TPP1, is distinct from the unrelated TPP1 gene on chromosome 11, which encodes tripeptidyl-peptidase I.
PAK1 interacting protein 1
, p21-activated protein kinase-interacting protein 1-like
, POT1 and TIN2 organizing protein
, POT1 and TIN2-interacting protein
, TIN2 interacting protein 1
, adrenocortical dysplasia protein homolog
, PAK/PLC-interacting protein 1
, PAK1-interacting protein 1
, WD repeat-containing protein 84
, p21-activated protein kinase-interacting protein 1
, glycerophosphodiester phosphodiesterase domain containing 1
, putative PAK inhibitor Skb15