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Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F12%3A00059827" target="_blank" >RIV/00216224:14310/12:00059827 - isvavai.cz</a>

  • Alternative codes found

    RIV/68081707:_____/12:00389825

  • Result on the web

    <a href="http://dx.doi.org/10.1016/j.ajhg.2012.02.005" target="_blank" >http://dx.doi.org/10.1016/j.ajhg.2012.02.005</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.ajhg.2012.02.005" target="_blank" >10.1016/j.ajhg.2012.02.005</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Bent Bone Dysplasia-FGFR2 type, a Distinct Skeletal Disorder, Has Deficient Canonical FGF Signaling

  • Original language description

    Fibroblast growth factor receptor 2 (FGFR2) is a crucial regulator of bone formation during embryonic development. Both gain and loss-of-function studies in mice have shown that FGFR2 maintains a critical balance between the proliferation and differentiation of osteoprogenitor cells. We have identified de novo FGFR2 mutations in a sporadically occurring perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth,hypoplastic pubis and clavicles, osteopenia, and bent long bones. Histological analysis of the long bones revealed that the growth plate contained smaller hypertrophic chondrocytes and a thickened hypercellular periosteum. Four unrelated affected individuals were found to be heterozygous for missense mutations that introduce a polar amino acid into the hydrophobic transmembrane domain of FGFR2.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

  • CEP classification

    ED - Physiology

  • OECD FORD branch

Result continuities

  • Project

  • Continuities

    S - Specificky vyzkum na vysokych skolach

Others

  • Publication year

    2012

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    The American Journal of Human Genetics

  • ISSN

    0002-9297

  • e-ISSN

  • Volume of the periodical

    90

  • Issue of the periodical within the volume

    3

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    8

  • Pages from-to

    550-557

  • UT code for WoS article

    000301762800022

  • EID of the result in the Scopus database