Varaico: Literature-Extracted Genetic Variants

Gene:FGFR3
Variant:p.V123V
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FGFR3

NM_000142.5:p.V123V

Associated Papers

Constitutive activation of activin receptor-like kinase 3 in chondrocytes exacerbates skeletal dysplasia in mice with achondroplasia.

Jin M et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2025

Fibroblast growth factor receptor 3 mutation promotes HSPB6-mediated cuproptosis in hypochondroplasia by impairing chondrocyte autophagy.

Chen J et al.

Journal of Orthopaedic Translation, 2025

Construction of a Lentiviral Vector for Fgfr2 Overexpression and its Impact on the Biological Behavior of Cranial Suture Mesenchymal Stem Cells.

Yue Y et al.

The Journal of Craniofacial Surgery, 2024

Targeting FGFR3 signaling and drug repurposing for the treatment of SLC26A2-related chondrodysplasia in mouse model.

Li P et al.

Journal of Orthopaedic Translation, 2024

Hypochondroplasia gain-of-function mutation in FGFR3 causes defective bone mineralization in mice.

Loisay L et al.

Jci Insight, 2023

Cilia kinases in skeletal development and homeostasis.

Abraham SP et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2022

Longitudinal Imaging of the Skull Base Synchondroses Demonstrate Prevention of a Premature Ossification After Recifercept Treatment in Mouse Model of Achondroplasia.

Rignol G et al.

Jbmr Plus, 2022

An Fgfr3-activating mutation in immature murine osteoblasts affects the appendicular and craniofacial skeleton.

Biosse Duplan M et al.

Disease Models & Mechanisms, 2021

FGFR3 in Periosteal Cells Drives Cartilage-to-Bone Transformation in Bone Repair.

Julien A et al.

Stem Cell Reports, 2020

Mouse Models of Syndromic Craniosynostosis.

Lee KKL et al.

Molecular Syndromology, 2019

Regulation of ciliary function by fibroblast growth factor signaling identifies FGFR3-related disorders achondroplasia and thanatophoric dysplasia as ciliopathies.

Kunova Bosakova M et al.

Human Molecular Genetics, 2018

Monoallelic FGFR3 and Biallelic ALPL mutations in a Thai girl with hypochondroplasia and hypophosphatasia.

Porntaveetus T et al.

American Journal of Medical Genetics. Part A, 2017

A point mutation in Fgf9 impedes joint interzone formation leading to multiple synostoses syndrome.

Tang L et al.

Human Molecular Genetics, 2017

Knock-in human FGFR3 achondroplasia mutation as a mouse model for human skeletal dysplasia.

Lee YC et al.

Scientific Reports, 2017

Fibroblast growth factor signaling in skeletal development and disease.

Ornitz DM et al.

Genes & Development, 2015

FGFR3 induces degradation of BMP type I receptor to regulate skeletal development.

Qi H et al.

Biochimica Et Biophysica Acta, 2014

Role of FGF/FGFR signaling in skeletal development and homeostasis: learning from mouse models.

Su N et al.

Bone Research, 2014

The ras-GTPase activity of neurofibromin restrains ERK-dependent FGFR signaling during endochondral bone formation.

Ono K et al.

Human Molecular Genetics, 2013

Role of FGFs/FGFRs in skeletal development and bone regeneration.

Du X et al.

Journal of Cellular Physiology, 2012

An activating Fgfr3 mutation affects trabecular bone formation via a paracrine mechanism during growth.

Mugniery E et al.

Human Molecular Genetics, 2012

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

Foldynova-Trantirkova S et al.

Human Mutation, 2012

The primary site of the acrocephalic feature in Apert Syndrome is a dwarf cranial base with accelerated chondrocytic differentiation due to aberrant activation of the FGFR2 signaling.

Nagata M et al.

Bone, 2011

Gain-of-function mutation in FGFR3 in mice leads to decreased bone mass by affecting both osteoblastogenesis and osteoclastogenesis.

Su N et al.

Human Molecular Genetics, 2010

Skeletal analysis of the Fgfr3(P244R) mouse, a genetic model for the Muenke craniosynostosis syndrome.

Twigg SR et al.

Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2009

FGFR3 promotes synchondrosis closure and fusion of ossification centers through the MAPK pathway.

Matsushita T et al.

Human Molecular Genetics, 2009

Gain-of-function mutation of FGFR3 results in impaired fracture healing due to inhibition of chondrocyte differentiation.

Su N et al.

Biochemical and Biophysical Research Communications, 2008

FGF signaling: its role in bone development and human skeleton diseases.

Su N et al.

Frontiers in Bioscience : a Journal and Virtual Library, 2008

FGF upregulates osteopontin in epiphyseal growth plate chondrocytes: implications for endochondral ossification.

Weizmann S et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 2005

The kinase activity of fibroblast growth factor receptor 3 with activation loop mutations affects receptor trafficking and signaling.

Lievens PM et al.

The Journal of Biological Chemistry, 2004

Roles of FGF receptors in mammalian development and congenital diseases.

Coumoul X et al.

Birth Defects Research. Part C, Embryo Today : Reviews, 2003

Parathyroid hormone receptor type 1/Indian hedgehog expression is preserved in the growth plate of human fetuses affected with fibroblast growth factor receptor type 3 activating mutations.

Cormier S et al.

The American Journal of Pathology, 2002

Somatic mutations of fibroblast growth factor receptor 3 (FGFR3) are uncommon in carcinomas of the uterine cervix.

Wu R et al.

Oncogene, 2000

Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.

Chen L et al.

The Journal of Clinical Investigation, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."