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In summary, it is not easy to differentiate stickler syndrome (STL (zeige MTTP Proteine)) from early-onset high myopia with routine ocular examination in outpatient clinics. Awareness of atypical phenotypes and newly recognized signs may be of help in identifying atypical STL (zeige MTTP Proteine), especially in children at eye clinics.
Plasma samples from lung cancer patients and healthy heavy-smokers controls were tested for levels of COL11A1 and COL10A1 (zeige COL10A1 Proteine) (n = 57 each) and SPARC (zeige SPARC Proteine) (n = 90 each). Higher plasma levels of COL10A1 (zeige COL10A1 Proteine) were detected in patients (p = 0.001), a difference that was driven specifically by females (p < 0.001). No difference in COL11A1 levels between patients and controls was found
results suggested that common polymorphisms in these two candidate genes were unlikely to play major roles in the genetic susceptibility to HM. Nevertheless, to avoid filtering real myopia genes, the role of COL11A1 and COL18A1 (zeige COL18A1 Proteine) in the pathogenesis of myopia requires more refinement in both animal models and human genetic epidemiological studies
These results showed that the frequency distribution of genotypes of the rs2229783 polymorphism in COL11A1 was significantly different between the Kashin-Beck Disease (KBD) and control groups; the expression level of COL11A in cartilage was significantly lower in the KBD group, but no association was found between the rs2229783 and the severity of KBD.
We confirmed that the rs1676486 of COL11A may be functionally associated with lumbar disc herniation (LDH) in the Chinese population. Extracellular matrix related proteins may play an important role in the pathogenesis of LDH. Our findings shed light on a better understanding of the pathogenesis of LDH, which could be a promising target for a novel treatment modality of LDH.
Study found one gene significantly associated when looking for associations between multiple common and rare variants with pneumococcal meningitis susceptibility, namely the COL11A1 gene.
The SNPs rs1337185 in COL11A1 and rs162509 in ADAMTS5 (zeige ADAMTS5 Proteine) are associated with susceptibility to lumbar disc degeneration. The C allele of rs1337185 is risky for patients who are affected by lumbar pathologies such as disc herniation, stenosis and spondylolisthesis. The G allele of rs16250 represents a risk factor for the development of disc herniation.
In this study, three novel and two known mutations in the COL2A1 (zeige COL2A1 Proteine) gene were identified in six of 16 Chinese patients with Stickler syndrome. This is the first study in a cohort of Chinese patients with Stickler syndrome, and the results expand the mutation spectrum of the COL2A1 (zeige COL2A1 Proteine) gene.
Chondrogenic potential was higher and Wnt/beta-catenin signaling was more potently activated by a GSK-3beta inhibitor in the posterior than in the anterior part of the human infant sclera.
genetic variants of COL11A1 contribute to adult height in Chinese Han population but not to children height
Taken together, these results indicate that the transcription factor Sp1 (zeige SP1 Proteine) upregulates the proximal promoter activity of the mouse Col11a1 gene in chondrocytes.
these results indicate that the transcription factor NF-Y regulates the proximal promoter activity of mouse Col11a1 gene in chondrocytes
Stickler syndrome and Marshall syndrome mutations in COL11A1 cause hearing loss via dominant negative effects upon wild-type fibrillar collagen polypeptides in the extracellular matrices of the cochlea.
the cho mutation leads to osteoarthritis through a mechanism that does not initially involve mechanical factors.
The expression patterns suggest essential roles for Col11a1 and Col11a2 in the basilar or tectorial membranes.
Lef1 (zeige LEF1 Proteine) is an activator of the Col11a1 promoter and that Col11a1 suppresses terminal osteoblast differentiation
This gene encodes one of the two alpha chains of type XI collagen, a minor fibrillar collagen. Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. Mutations in this gene are associated with type II Stickler syndrome and with Marshall syndrome. A single-nucleotide polymorphism in this gene is also associated with susceptibility to lumbar disc herniation. Multiple transcript variants have been identified for this gene.
alpha 1 type XI collagen
, collagen alpha-1(XI) chain
, collagen type XI alpha-1a
, collagen alpha-3(V) chain
, collagen, type XI, alpha 1
, collagen alpha-1(XI) chain-like
, collagen XI, alpha-1 polypeptide
, a1(XI) collagen
, pro-alpha1(XI) collagen
, procollagen, type XI, alpha 1
, collagen type XI
, collagen type a1(XI)6A-7-8
, collagen type a1(XI)6B-7
, procollagen type XI alpha 1