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FREM1 encodes a basement membrane protein that may play a role in craniofacial and renal development. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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we identified genome-wide significant association involving measures of central upper lip height at 9p22 within FREM1
FREM1 expression is significantly downregulated in human masticatory mucosa during wound healing
this report describes a patient with a phenotype compatible with Manitoba-oculo-tricho-anal syndrome in whom two novel FREM1 mutations were identified in the compound heterozygous state thus broadening the mutational spectrum of the disease.
In 15 of 590 families, we identified recessive mutations in the genes FRAS1 (zeige FRAS1 Antikörper), FREM2 (zeige FREM2 Antikörper), GRIP1 (zeige NCOA2 Antikörper), FREM1, ITGA8, and GREM1 (zeige GREM1 Antikörper), all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.
Disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes.
We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH (zeige CHDH Antikörper) in both humans and mice.
The significant association of rs1552896 with an HIV-resistant phenotype, together with the expression profile of FREM1 in tissues relevant to HIV infection, suggests that FREM1 is a potentially novel candidate gene for resistance to HIV infection.
The location of the IBD region 16 kb from FREM1 suggests the phenotype in Manitoba oculotrichoanal syndrome patients is attributable to a variant outside of FREM1, potentially in a regulatory element.
FREM1 encodes a basement membrane protein of FRAS1-related extracellular matrix protein 1 which is required for epidermal adhesion during embryonic development
a role for TILRR in selective amplification of NF-kappaB (zeige NFKB1 Antikörper) responses through IL-1RI and suggest that the specificity is determined by changes in receptor conformation and adapter protein (zeige TOLLIP Antikörper) recruitment.
loss of FREM1 function promotes epidermal blistering in Fraser syndrome as a consequence of reduced PDGFC (zeige PDGFC Antikörper) activity, in addition to its stabilising role in the basement membrane
FREM1-deficient mice faithfully recapitulate many of the phenotypes seen in individuals with FREM1 deficiency and that variations in GATA4 (zeige GATA4 Antikörper) and SLIT3 (zeige SLIT3 Antikörper) expression modulate some FREM1-related phenotypes in mice.
the loss of QBRICK significantly diminished The expression of nephronectin (zeige NPNT Antikörper), an integrin alpha8beta1 ligand necessary for renal development.
Frem1 mutant mice is the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia.
TILRR, an isoform encoded by an alternatively spliced FREM1 mRNA, is an IL-1RI co-receptor that associates with the signaling receptor complex to enhance recruitment of MyD88 (zeige MYD88 Antikörper) and control Ras-dependent amplification of NF-kappaB (zeige NFKB1 Antikörper) and inflammatory responses.
Frem1 appears to act as a dermal mediator of basement membrane adhesion and is required for epidermal adhesion during embryonic development
QBRICK is an adhesive ligand of basement membrane distinctively recognized by cells in the embryonic skin and hair follicles through different types of integrins directed to the Arg-Gly-Asp (zeige C3 Antikörper) motif.
QBRICK/Frem1, Fras1 (zeige FRAS1 Antikörper), and Frem2 (zeige FREM2 Antikörper) interactions at the basement membrane have roles in preventing Fraser syndrome-like defects
Taken together, our findings indicate that besides a cooperative function with Fras1 (zeige FRAS1 Antikörper) in embryonic basement membranes, Frem1 can also act independently in processes related to epidermal differentiation.
This gene encodes a basement membrane protein that may play a role in craniofacial and renal development. Mutations in this gene have been associated with bifid nose with or without anorectal and renal anomalies. Alternatively spliced transcript variants encoding different isoforms have been described. PubMed ID 19940113 describes one such variant that initiates transcription within a distinct, internal exon\; the resulting shorter isoform (named Toll-like/interleukin-1 receptor regulator, TILRR) is suggested to be a co-receptor of the interleukin 1 receptor family and may regulate receptor function and Toll-like receptor/interleukin 1 receptor signal transduction, contributing to the control of inflammatory response activation.
FRAS1-related extracellular matrix protein 1
, extracellular matrix protein QBRICK