FRAS1 Related Extracellular Matrix 1 (FREM1) ELISA Kits

FREM1 encodes a basement membrane protein that may play a role in craniofacial and renal development. Zusätzlich bieten wir Ihnen FRAS1 Related Extracellular Matrix 1 Antikörper (29) und und viele weitere Produktgruppen zu diesem Protein an.

list all ELISA KIts Gen GeneID UniProt
Anti-Human FREM1 FREM1 158326 Q5H8C1
Anti-Ratte FREM1 FREM1 298185  
Anti-Maus FREM1 FREM1 329872 Q684R7
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Weitere ELISA Kits für FRAS1 Related Extracellular Matrix 1 Interaktionspartner

Human FRAS1 Related Extracellular Matrix 1 (FREM1) Interaktionspartner

  1. we identified genome-wide significant association involving measures of central upper lip height at 9p22 within FREM1

  2. FREM1 expression is significantly downregulated in human masticatory mucosa during wound healing

  3. 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.

  4. In 15 of 590 families, we identified recessive mutations in the genes FRAS1 (zeige FRAS1 ELISA Kits), FREM2 (zeige FREM2 ELISA Kits), GRIP1 (zeige NCOA2 ELISA Kits), FREM1, ITGA8, and GREM1 (zeige GREM1 ELISA Kits), all of which function in the interaction of the ureteric bud and the metanephric mesenchyme.

  5. Disruption of the FREM1 gene can produce a spectrum of clinical manifestations encompassing the previously described MOTA and BNAR syndromes.

  6. We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH (zeige CHDH ELISA Kits) in both humans and mice.

  7. 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.

  8. 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.

  9. FREM1 encodes a basement membrane protein of FRAS1-related extracellular matrix protein 1 which is required for epidermal adhesion during embryonic development

  10. a role for TILRR in selective amplification of NF-kappaB (zeige NFKB1 ELISA Kits) responses through IL-1RI and suggest that the specificity is determined by changes in receptor conformation and adapter protein (zeige TOLLIP ELISA Kits) recruitment.

Mouse (Murine) FRAS1 Related Extracellular Matrix 1 (FREM1) Interaktionspartner

  1. loss of FREM1 function promotes epidermal blistering in Fraser syndrome as a consequence of reduced PDGFC (zeige PDGFC ELISA Kits) activity, in addition to its stabilising role in the basement membrane

  2. FREM1-deficient mice faithfully recapitulate many of the phenotypes seen in individuals with FREM1 deficiency and that variations in GATA4 (zeige GATA4 ELISA Kits) and SLIT3 (zeige SLIT3 ELISA Kits) expression modulate some FREM1-related phenotypes in mice.

  3. We conclude that FREM1 plays a critical role in the development of the diaphragm and that FREM1 deficiency can cause CDH (zeige CHDH ELISA Kits) in both humans and mice.

  4. the loss of QBRICK significantly diminished The expression of nephronectin (zeige NPNT ELISA Kits), an integrin alpha8beta1 ligand necessary for renal development.

  5. Frem1 mutant mice is the first bona fide mouse model of human metopic craniosynostosis and a new model for midfacial hypoplasia.

  6. 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 ELISA Kits) and control Ras-dependent amplification of NF-kappaB (zeige NFKB1 ELISA Kits) and inflammatory responses.

  7. Frem1 appears to act as a dermal mediator of basement membrane adhesion and is required for epidermal adhesion during embryonic development

  8. 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 ELISA Kits) motif.

  9. QBRICK/Frem1, Fras1 (zeige FRAS1 ELISA Kits), and Frem2 (zeige FREM2 ELISA Kits) interactions at the basement membrane have roles in preventing Fraser syndrome-like defects

  10. Taken together, our findings indicate that besides a cooperative function with Fras1 (zeige FRAS1 ELISA Kits) in embryonic basement membranes, Frem1 can also act independently in processes related to epidermal differentiation.

FRAS1 Related Extracellular Matrix 1 (FREM1) Antigen-Profil

Beschreibung des Gens

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.

Genbezeichner und Symbole assoziert mit FREM1

  • FRAS1 related extracellular matrix 1 (FREM1) Antikörper
  • Fras1 related extracellular matrix 1 (Frem1) Antikörper
  • Fras1 related extracellular matrix protein 1 (Frem1) Antikörper
  • BC037594 Antikörper
  • BNAR Antikörper
  • C9orf143 Antikörper
  • C9orf145 Antikörper
  • C9orf154 Antikörper
  • D430009N09 Antikörper
  • D630008K06 Antikörper
  • eye Antikörper
  • eyes2 Antikörper
  • heb Antikörper
  • MOTA Antikörper
  • qbrick Antikörper
  • RGD1306981 Antikörper
  • TILRR Antikörper
  • TRIGNO2 Antikörper

Bezeichner auf Proteinebene für FREM1

FRAS1-related extracellular matrix protein 1 , extracellular matrix protein QBRICK

GENE ID SPEZIES
158326 Homo sapiens
481547 Canis lupus familiaris
298185 Rattus norvegicus
329872 Mus musculus
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