A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
about
Generation of Fgfr3 conditional knockout miceShort and tall stature: a new paradigm emergesFibroblast growth factor signaling in skeletal development and diseaseSixteen years and counting: the current understanding of fibroblast growth factor receptor 3 (FGFR3) signaling in skeletal dysplasiasGain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesisMeclozine facilitates proliferation and differentiation of chondrocytes by attenuating abnormally activated FGFR3 signaling in achondroplasiaGenetic rescue of Muenke syndrome model hearing loss reveals prolonged FGF-dependent plasticity in cochlear supporting cell fates.Hearing loss in a mouse model of Muenke syndromeExpression of ERK signaling inhibitors Dusp6, Dusp7, and Dusp9 during mouse ear development.Canine fibroblast growth factor receptor 3 sequence is conserved across dogs of divergent skeletal size.Regulation of cell fate and patterning in the developing mammalian cochlea.A missense mutation in Fgfr1 causes ear and skull defects in hush puppy mice.An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene.A novel FGFR3-binding peptide inhibits FGFR3 signaling and reverses the lethal phenotype of mice mimicking human thanatophoric dysplasia.The Fibroblast Growth Factor signaling pathwayGenetic inactivation of ERK1 and ERK2 in chondrocytes promotes bone growth and enlarges the spinal canalMicro CT Analysis of Spine Architecture in a Mouse Model of Scoliosis.FGFR3 Deficiency Causes Multiple Chondroma-like Lesions by Upregulating Hedgehog Signaling.A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentationsExome Sequencing of a Pedigree Reveals S339L Mutation in the TLN2 Gene as a Cause of Fifth Finger Camptodactyly.FGF signaling in the osteoprogenitor lineage non-autonomously regulates postnatal chondrocyte proliferation and skeletal growth.A Track Record on SHOX: From Basic Research to Complex Models and TherapyFibroblast growth factor expression during skeletal fracture healing in miceThe best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease.Role of FGFs/FGFRs in skeletal development and bone regeneration.Height matters-from monogenic disorders to normal variation.Achondroplasia: Development, pathogenesis, and therapy.Hypoxia regulates FGFR3 expression via HIF-1α and miR-100 and contributes to cell survival in non-muscle invasive bladder cancer.Bone fracture healing in mechanobiological modeling: A review of principles and methods.Genetics of Short Stature.FGFR3 is a target of the homeobox transcription factor SHOX in limb development.Proteome-wide analysis of nonsynonymous single-nucleotide variations in active sites of human proteins.FGFR3 deficient mice have accelerated fracture repair.Tall stature: a difficult diagnosis?Putting the brakes on chondrosarcoma.PTH 1-34 Ameliorates the Osteopenia and Delayed Healing of Stabilized Tibia Fracture in Mice with Achondroplasia Resulting from Gain-Of-Function Mutation of FGFR3.Chondrocyte FGFR3 Regulates Bone Mass by Inhibiting Osteogenesis.Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities.A novel homozygous mutation in FGFR3 causes tall stature, severe lateral tibial deviation, scoliosis, hearing impairment, camptodactyly, and arachnodactyly.Multikinase activity of fibroblast growth factor receptor (FGFR) inhibitors SU5402, PD173074, AZD1480, AZD4547 and BGJ398 compromises the use of small chemicals targeting FGFR catalytic activity for therapy of short-stature syndromes.
P2860
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P2860
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
description
2006 nî lūn-bûn
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2006 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@ast
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@en
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@nl
type
label
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@ast
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@en
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@nl
prefLabel
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@ast
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@en
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@nl
P2093
P2860
P3181
P356
P1476
A novel mutation in FGFR3 caus ...... hearing loss (CATSHL) syndrome
@en
P2093
Anna E Brassington
David H Viskochil
Frank G Whitby
John C Carey
Lynn B Jorde
Michael J Bamshad
Nicola Longo
Patrycja A Krakowiak
Pinar Bayrak-Toydemir
P2860
P304
P3181
P356
10.1086/508433
P407
P577
2006-11-01T00:00:00Z