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12 results for uniprot:P11487 in Computationally mapped citations

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A genome-wide association study identifies protein quantitative trait loci (pQTLs).

Melzer D., Perry J.R., Hernandez D., Corsi A.M., Stevens K., Rafferty I., Lauretani F., Murray A., Gibbs J.R., Paolisso G. et al.

PLoS Genet. 4:e1000072-e1000072(2008) GAD 597618 · Mapped (608)
Associated with OTHER: protein quantitative trait loci; GAD 597618

Fibroblast growth factor 3, a protein with a dual subcellular fate, is interacting with human ribosomal protein S2.

Antoine M., Reimers K., Wirz W., Gressner A.M., Muller R., Kiefer P.

Biochem. Biophys. Res. Commun. 338:1248-1255(2005) GeneRIF 2248 · Mapped (21)
These findings suggest that the nuclear form of FGF3 inhibits cell proliferation by interfering with ribosomal biogenesis. GeneRIF 2248

Impaired FGF signaling contributes to cleft lip and palate.

Riley B.M., Mansilla M.A., Ma J., Daack-Hirsch S., Maher B.S., Raffensperger L.M., Russo E.T., Vieira A.R., Dode C., Mohammadi M. et al.

Proc. Natl. Acad. Sci. U.S.A. 104:4512-4517(2007) GeneRIF 2248 · Mapped (8)
FGF3 FGF7 FGF10 FGF18 and FGFR1 may have roles in nonsyndromic cleft lip and palate GeneRIF 2248

SNP genome scanning localizes oto-dental syndrome to chromosome 11q13 and microdeletions at this locus implicate FGF3 in dental and inner-ear disease and FADD in ocular coloboma.

Gregory-Evans C.Y., Moosajee M., Hodges M.D., Mackay D.S., Game L., Vargesson N., Bloch-Zupan A., Ruschendorf F., Santos-Pinto L., Wackens G. et al.

Hum. Mol. Genet. 16:2482-2493(2007) GeneRIF 2248 · Mapped (5)
Implication of FGF3 and FADD in human craniofacial disease. GeneRIF 2248

Syndromic congenital sensorineural deafness, microtia and microdontia resulting from a novel homoallelic mutation in fibroblast growth factor 3 (FGF3).

Alsmadi O., Meyer B.F., Alkuraya F., Wakil S., Alkayal F., Al-Saud H., Ramzan K., Al-Sayed M.

Eur. J. Hum. Genet. 17:14-21(2009) GeneRIF 2248 · Mapped (1)
study identified a homozygous missense mutation (c.196G-->T) in FGF3 in 21 affected individuals from a large extended family phenotypically characterized by autosomal recessive syndromic congenital sensorineural deafness microtia and microdontia GeneRIF 2248

High-density association study of 383 candidate genes for volumetric BMD at the femoral neck and lumbar spine among older men.

Yerges L.M., Klei L., Cauley J.A., Roeder K., Kammerer C.M., Moffett S.P., Ensrud K.E., Nestlerode C.S., Marshall L.M., Hoffman A.R. et al.

J. Bone Miner. Res. 24:2039-2049(2009) GeneRIF 2248 · Mapped (1,348)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 2248

The transition from radial glial to intermediate progenitor cell is inhibited by FGF signaling during corticogenesis.

Kang W., Wong L.C., Shi S.H., Hebert J.M.

J. Neurosci. 29:14571-14580(2009) GeneRIF 2248 · Mapped (169)
Loss of FGFR3 signaling provides evidence that extracellular signals regulate not simply the proliferation or survival of radial glial cells but specifically their progression to intermediate progenitor cells during neurogenesis in vivo. GeneRIF 2248

A FGF3 mutation associated with differential inner ear malformation, microtia, and microdontia.

Ramsebner R., Ludwig M., Parzefall T., Lucas T., Baumgartner W.D., Bodamer O., Cengiz F.B., Schoefer C., Tekin M., Frei K.

Laryngoscope 120:359-364(2010) GeneRIF 2248 · Mapped (1)
labyrinth aplasia microtia and microdontia (LAMM) syndrome caused by mutations in FGF3 GeneRIF 2248

Modulation of Fgf3 dosage in mouse and men mirrors evolution of mammalian dentition.

Charles C., Lazzari V., Tafforeau P., Schimmang T., Tekin M., Klein O., Viriot L.

Proc. Natl. Acad. Sci. U.S.A. 106:22364-22368(2009) GeneRIF 2248 · Mapped (4)
alterations in dosage of the Fgf3 gene cause dental morphological changes GeneRIF 2248

Variable expressivity of FGF3 mutations associated with deafness and LAMM syndrome.

Riazuddin S., Ahmed Z.M., Hegde R.S., Khan S.N., Nasir I., Shaukat U., Riazuddin S., Butman J.A., Griffith A.J., Friedman T.B. et al.

BMC Med. Genet. 12:21-21(2011) GeneRIF 2248 · Mapped (1)
Manifestations of recessive FGF3 mutations range from fully penetrant LAMM syndrome to deafness with residual inner ear structures and by extension with minimal syndromic features. GeneRIF 2248

Elevated FGF 23 and phosphorus are associated with coronary calcification in hemodialysis patients.

Srivaths P.R., Goldstein S.L., Silverstein D.M., Krishnamurthy R., Brewer E.D.

Pediatr. Nephrol. 26:945-951(2011) GeneRIF 2248 · Mapped (1)
This study is the first to show a significant association between coronary calcification and elevated serum FGF 23 in children. GeneRIF 2248

LAMM syndrome with middle ear dysplasia associated with compound heterozygosity for FGF3 mutations.

Sensi A., Ceruti S., Trevisi P., Gualandi F., Busi M., Donati I., Neri M., Ferlini A., Martini A.

Am. J. Med. Genet. A 155A:1096-1101(2011) GeneRIF 2248 · Mapped (1)
confirm the absence of otodental syndrome in heterozygous FGF3 carriers but report unilateral microtia in one of them GeneRIF 2248

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