Sixteen years and counting: the current understanding of
fibroblast growth factorreceptor 3 (FGFR3) signaling in
skeletal dysplasias.

J 2012

Sixteen years and counting: the current understanding of fibroblast growth factorreceptor 3 (FGFR3) signaling in skeletal dysplasias.

FOLDYNOVA-TRANTIRKOVA, Silvie; W.R. WILCOX a Pavel KREJČÍ

Základní údaje

Originální název

Sixteen years and counting: the current understanding of fibroblast growth factorreceptor 3 (FGFR3) signaling in skeletal dysplasias.

Autoři

FOLDYNOVA-TRANTIRKOVA, Silvie; W.R. WILCOX a Pavel KREJČÍ

Vydání

Human Mutation, 2012, 1059-7794

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30105 Physiology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Impakt faktor

Impact factor: 5.213

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/12:00057264

Organizační jednotka

Přírodovědecká fakulta

DOI

https://doi.org/10.1002/humu.21636

UT WoS

000300705300005

Klíčová slova anglicky

FGFR3; hypochondroplasia; skleletal displasia

Štítky

AKR, rivok

Změněno: 11. 4. 2013 17:37, Ing. Andrea Mikešková

Anotace

V originále

In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). Other conditions soon followed, with the list of human disorders caused by FGFR3 mutations now reaching at least 10. An array of vastly different diagnoses is caused by similar mutations in FGFR3, including syndromes affecting skeletal development (hypochondroplasia [HCH], ACH, thanatophoric dysplasia [TD]), skin (epidermal nevi, seborrhaeic keratosis, acanthosis nigricans), and cancer (multiple myeloma [MM], prostate and bladder carcinoma, seminoma). Despite many years of research, several aspects of FGFR3 function in disease remain obscure or controversial. As FGFR3-related skeletal dysplasias are caused by growth attenuation of the cartilage, chondrocytes appear to be unique in their response to FGFR3 activation. However, the reasons why FGFR3 inhibits chondrocyte growth while causing excessive cellular proliferation in cancer are not clear. Likewise, the full spectrum of molecular events by which FGFR3 mediates its signaling is just beginning to emerge. This article describes the challenging journey to unravel the mechanisms of FGFR3 function in skeletal dysplasias, the extraordinary cellular manifestations of FGFR3 signaling in chondrocytes, and finally, the progress toward therapy for ACH and cancer.

Návaznosti

GAP305/11/0752, projekt VaV

Název: Molekulární základy FGFR3 signalingu v kostní dysplázii

Investor: Grantová agentura ČR, Molekulární základy FGFR3 signalingu v kostní dysplázii

GA301/09/0587, projekt VaV

Název: Nové dráhy FGFR3 signalingu v achondroplázii

Investor: Grantová agentura ČR, Nové dráhy FGFR3 signalingu v achondroplázii

MSM0021622430, záměr

Název: Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Funkční a molekulární charakteristiky nádorových a normálních kmenových buněk - identifikace cílů pro nová terapeutika a terapeutické strategie

Citovat

FOLDYNOVA-TRANTIRKOVA, Silvie; W.R. WILCOX a Pavel KREJČÍ. Sixteen years and counting: the current understanding of fibroblast growth factorreceptor 3 (FGFR3) signaling in skeletal dysplasias. Human Mutation. 2012, roč. 33, č. 1, s. 29-41. ISSN 1059-7794. Dostupné z: https://doi.org/10.1002/humu.21636.

@article{970743,
   author = {FoldynovaandTrantirkova, Silvie and Wilcox, W.R. and Krejčí, Pavel},
   article_number = {1},
   doi = {https://doi.org/10.1002/humu.21636},
   keywords = {FGFR3; hypochondroplasia; skleletal displasia},
   language = {eng},
   issn = {1059-7794},
   journal = {Human Mutation},
   title = {Sixteen years and counting: the current understanding of fibroblast growth factorreceptor 3 (FGFR3) signaling in skeletal dysplasias.},
   volume = {33},
   year = {2012}
}

TY  - JOUR
ID  - 970743
AU  - Foldynova-Trantirkova, Silvie - Wilcox, W.R. - Krejčí, Pavel
PY  - 2012
TI  - Sixteen years and counting: the current understanding of fibroblast growth factorreceptor 3 (FGFR3) signaling in skeletal dysplasias.
JF  - Human Mutation
VL  - 33
IS  - 1
SP  - 29-41
EP  - 29-41
SN  - 10597794
KW  - FGFR3
KW  - hypochondroplasia
KW  - skleletal displasia
N2  - In 1994, the field of bone biology was significantly advanced by the discovery that activating mutations in the fibroblast growth factor receptor 3 (FGFR3) receptor tyrosine kinase (TK) account for the common genetic form of dwarfism in humans, achondroplasia (ACH). Other conditions soon followed, with the list of human disorders caused by FGFR3 mutations now reaching at least 10. An array of vastly different diagnoses is caused by similar mutations in FGFR3, including syndromes affecting skeletal development (hypochondroplasia [HCH], ACH, thanatophoric dysplasia [TD]), skin (epidermal nevi, seborrhaeic keratosis, acanthosis nigricans), and cancer (multiple myeloma [MM], prostate and bladder carcinoma, seminoma). Despite many years of research, several aspects of FGFR3 function in disease remain obscure or controversial. As FGFR3-related skeletal dysplasias are caused by growth attenuation of the cartilage, chondrocytes appear to be unique in their response to FGFR3 activation. However, the reasons why FGFR3 inhibits chondrocyte growth while causing excessive cellular proliferation in cancer are not clear. Likewise, the full spectrum of molecular events by which FGFR3 mediates its signaling is just beginning to emerge. This article describes the challenging journey to unravel the mechanisms of FGFR3 function in skeletal dysplasias, the extraordinary cellular manifestations of FGFR3 signaling in chondrocytes, and finally, the progress toward therapy for ACH and cancer.
ER  -

FOLDYNOVA-TRANTIRKOVA, Silvie; W.R. WILCOX a Pavel KREJČÍ. Sixteen years and counting: the current understanding of fibroblast growth factorreceptor 3 (FGFR3) signaling in skeletal dysplasias. \textit{Human Mutation}. 2012, roč.~33, č.~1, s.~29-41. ISSN~1059-7794. Dostupné z: https://doi.org/10.1002/humu.21636.

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