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
Novel FGF9 variant contributes to multiple synostoses syndrome 3.
Dobson SM et al.
American Journal of Medical Genetics. Part A, 2022
Fgf9 Negatively Regulates Bone Mass by Inhibiting Osteogenesis and Promoting Osteoclastogenesis Via MAPK and PI3K/AKT Signaling.
Tang L et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
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 Models of Syndromic Craniosynostosis.
Lee KKL et al.
Molecular Syndromology, 2019
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 FGFs/FGFRs in skeletal development and bone regeneration.
Du X et al.
Journal of Cellular Physiology, 2012
Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis.
Machado AZ et al.
European Journal of Medical Genetics, 2012
Autoinhibitory mechanism for the mutation-induced impaired FGF9 signaling.
Wang Y et al.
Journal of Chemical Information and Modeling, 2012
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
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
Wu XL et al.
American Journal of Human Genetics, 2009
[Analysis on mutation of adrenoleukodystrophy gene in exon 1 and exon 5].
Shi XR et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2003
[A new point mutation on exon 2 of parkin gene in Parkinson's disease].
Xu Y et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2002
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