COL1A1


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COL1A1

A gene on chromosome 17q21.33 that encodes the pro-alpha1 chains of type-I collagen, whose triple helix comprises two alpha1 chains and one alpha2 chain. Type I is a fibril-forming collagen found in connective tissues, and is abundant in bone, cornea, dermis and tendon.

Molecular pathology
COL1A1 mutations are linked to osteogenesis imperfecta types I–IV, Ehlers-Danlos syndrome type VIIA, Ehlers-Danlos syndrome (classical type), Caffey disease and idiopathic osteoporosis. Reciprocal translocations between chromosomes 17q21.33 (the location for COL1A1) and 22q12.3-q13.1|22q13.1 (the location of the gene for platelet-derived growth factor beta), are associated with dermatofibrosarcoma protuberans, a skin tumour driven by unregulated expression of the growth factor.
References in periodicals archive ?
Son pocos los individuos con mutacion probada en COL1A1 a largo plazo, con deformidad persistente de huesos largos.
The mRNA levels for COl1A1 and ON were upregulated in DPSCs compared to ST-APSCs after the osteogenic differentiation (Fig.
The primer sequences used for Ki-67, Col1A1, and [beta]-actin in this study were as stated in Rahmaniah et al.
Expressions of gene encoding collagens (COL3A1, COL1A1) were greatly increased.
These results offer further evidence that Egr1 can promote kidney fibrosis in addition to binding to the promoters of COL1A1, COMP, periostin, MMP2, TIMP1, and OPN.
[29] These authors used the eponymous designation Bruck syndrome, based on historical precedents.'4' The orthopaedic aspects of additional affected children (Venda) were reviewed by Mokete et al., [30] and DNA was provided for a large-scale international investigation undertaken by Kelley et al.['3] This study involved molecular screening of material from 47 affected individuals with OI in whom the COL1A1, COL1A1, CRTAP and P3H1 genes were normal.
(23) MGMT ve DAPK1: %38 metile RARB RARB: %31.2 metile Zhao ve Osteogenez COL1A1 ve Mutasyon COL1A1: 74/200 (37) ark.
Osteogenesis imperfecta type 2 is a perinatal lethal form of an autosomal dominant skeletal dysplasia produced by mutation in COL1A1 or COL1A2 genes.
QRT-PCR reactions for PDK2, SRY-related high mobility group-box 6 (Sox6), type II procollagen gene (COL2A1), cartilage oligomeric matrix protein (COMP), aggrecan (AGC1), type IX procollagen gene (COL9A2), collagen type 1 alpha 1 (COL1A1), c-Jun N-terminal kinase (JNK), p38 mitogen-activated protein kinase (MAPK) and extracellular regulated protein kinase (ERK) were performed with RiboMAX Large Scale RNA Production System T7 (Promega, Germany).
The principal defect in type 1 OI is the deficiency or aberrant production of type 1 collagen, which consists of two alpha 1 and one alpha 2 polypeptide chains coded by COL1A1 and COL1A2 genes.
We evaluated the expression of some key genes (nuclear factor kappa B (NF[kappa]B), matrix metalloproteinase 13 (MMP-13), a disintegrin and metalloproteinase with thrombospondin motifs 4 (ADAMTS-4), collagen type I alpha 1 (cOl1A1), collagen type II alpha 1 (COL2A1), and cartilage oligomeric matrix protein (COMP)) implicated in joint homeostasis and pathology.
TLR9 expanded stem-like androgen-independent prostate cancer cells through NF-[kappa]B and STAT3 activation, which in turn upregulated the expression of stemness-associated genes, including NKX3.1, KLF-4, BMI-1, and COL1A1 [153].