Results 261 to 270 of about 194,657 (287)
Some of the next articles are maybe not open access.

Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis

The Lancet, 1997
The C749G (Pro250Arg) mutation in the gene for fibroblast growth factor receptor 3 (FGFR3) has been found in patients with various types of craniosynostosis. We aimed to find out the proportion of cases of apparently non-syndromic coronal craniosynostosis attributable to this mutation.We studied 26 patients with coronal craniosynostosis but no ...
Clair A. Francomano   +7 more
openaire   +3 more sources

Skeletal overgrowth and deafness in mice lacking fibroblast growth factor receptor 3

Nature Genetics, 1996
Fibroblast growth factor receptor 3 (Fgfr3) is a tyrosine kinase receptor expressed in developing bone, cochlea, brain and spinal cord. Achondroplasia, the most common genetic form of dwarfism, is caused by mutations in FGFR3. Here we show that mice homozygous for a targeted disruption of Fgfr3 exhibit skeletal and inner ear defects.
Jennifer S. Colvin   +4 more
openaire   +3 more sources

Motor deficits in fibroblast growth factor receptor-3 null mutant mice

Behavioural Pharmacology, 2001
Fibroblast growth factor receptor-3 (FGFR-3) regulates aspects of bone development. Mutations in the FGFR-3 gene (Fgfr3) in humans and mice produce vertebral abnormalities and bone deformities. The present study evaluated the behavioural concomitants of the Fgfr3-/- mutation.
Chu-Xia Deng   +4 more
openaire   +3 more sources

Molecular cloning and developmental expression of rat fibroblast growth factor receptor 3

Histochemistry and Cell Biology, 2001
Fibroblast growth factors (FGFs) are involved in the control of a variety of biological functions including regulation and differentiation of various cell types. Furthermore, they play important roles in the processes of regeneration, angiogenesis, and chemotaxis.
Peter Claus, Claudia Grothe
openaire   +3 more sources

The expression of fibroblast growth factor receptor-3 in synovial osteochondromatosis of the temporomandibular joint

Archives of Oral Biology, 2004
Primary synovial osteochondromatosis (PSC) is a disease of unknown aetiology. It was reported recently that expression of fibroblast growth factor receptor-3 (FGFR-3) was observed specifically in PSC. We classified six cases of synovial osteochondromatosis (SC) of the temporomandibular joint (TMJ) into two types of SC, PSC (five cases) and secondary ...
Akihiko Yamaguti   +4 more
openaire   +3 more sources

Isolation and developmental expression of the amphibian homolog of the fibroblast growth factor receptor 3

Journal of Cell Science, 1994
ABSTRACT Recent observations suggest that fibroblast growth factors (FGFs) and their receptors are involved in the control of embryogenesis. Several FGF receptor genes have been identified so far and their expression is differentially regulated.
Catherine Launay   +4 more
openaire   +2 more sources

A novel missense mutation Ile538Val in the fibroblast growth factor receptor 3 in hypochondroplasia

Human Mutation, 1998
Hypochondroplasia and achondroplasia are skeletal dysplasias, characterised by autosomal dominant inheritance and disproportionate short stature, which occurs mainly due to growth failure of the extremities. Both dysplasias have been mapped to fibroblast growth factor receptor 3 (FGFR3) gene. For hypochondroplasia, two point mutations, both responsible
Ole Eklöf   +5 more
openaire   +2 more sources

Role of Dimerization Efficiency of Transmembrane Domains in Activation of Fibroblast Growth Factor Receptor 3

Journal of the American Chemical Society, 2013
Mutations in transmembrane (TM) domains of receptor tyrosine kinases are shown to cause a number of inherited diseases and cancer development. Here, we use a combined molecular modeling approach to understand molecular mechanism of effect of G380R and A391E mutations on dimerization of TM domains of human fibroblast growth factor receptor 3 (FGFR3 ...
Roman G. Efremov   +6 more
openaire   +4 more sources

Enhanced skeletal growth of sheep heterozygous for an inactivated fibroblast growth factor receptor 31

Journal of Animal Science, 2006
Normal fibroblast growth factor receptor 3 (FGFR3) acts as a negative bone growth regulator by restricting chondrocyte proliferation and endochondral bone elongation. In sheep, a heritable mutation that inactivates FGFR3 produces skeletal overgrowth when homozygous, this condition is commonly referred to as spider lamb syndrome (SLS).
Anita M. Oberbauer   +4 more
openaire   +3 more sources

Fibroblast Growth Factor Receptor 3 and Multiple Myeloma [PDF]

open access: possible, 2008
Victor H Jimenez-Zepeda   +1 more
openaire   +1 more source

Home - About - Disclaimer - Privacy