Varaico: Literature-Extracted Genetic Variants

Gene:FGF9
Variant:p.N143T
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FGF9

NM_002010.3:p.N143T

Associated Papers

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Schmetz A et al.

Genes, 2023

FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.

Croft B et al.

Clinical Genetics, 2023

Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.

Tooze RS et al.

Genes, 2023

Identification of the third FGF9 variant in a girl with multiple synostosis-comparison of the genotype:phenotype of FGF9 variants in humans and mice.

Sentchordi-Montané L et al.

Clinical Genetics, 2021

A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

Thuresson AC et al.

Clinical Genetics, 2021

Ovotesticular disorders of sex development in FGF9 mouse models of human synostosis syndromes.

Bird AD et al.

Human Molecular Genetics, 2020

Mouse fibroblast growth factor 9 N143T mutation leads to wide chondrogenic condensation of long bones.

Harada M et al.

Histochemistry and Cell Biology, 2020

Mouse Models of Syndromic Craniosynostosis.

Lee KKL et al.

Molecular Syndromology, 2019

Fgf9 Y162C Mutation Alters Information Processing and Social Memory in Mice.

Garrett L et al.

Molecular Neurobiology, 2018

FGF9 mutation causes craniosynostosis along with multiple synostoses.

Rodriguez-Zabala M et al.

Human Mutation, 2017

Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization.

Liu Y et al.

Structure (london, England : 1993), 2017

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

Tang L et al.

Human Molecular Genetics, 2017

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

Su N et al.

Bone Research, 2014

Exploring mechanisms of FGF signalling through the lens of structural biology.

Goetz R et al.

Nature Reviews. Molecular Cell Biology, 2013

The pathologic effect of a novel neomorphic Fgf9(Y162C) allele is restricted to decreased vision and retarded lens growth.

Puk O et al.

Plos One, 2011

FGF9 monomer-dimer equilibrium regulates extracellular matrix affinity and tissue diffusion.

Harada M et al.

Nature Genetics, 2009

The fundamentals of fibroblast growth factor 9.

Yin H et al.

Differentiation; Research in Biological Diversity, 0

Cervical vertebrae fusion in elbow knee synostosis (Eks)-mutant mice with fibroblast growth factor 9 N143T mutation.

Djameh G et al.

Congenital Anomalies, 0

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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."