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

Novel FGF9 variant contributes to multiple synostoses syndrome 3

(2022) Stephanie M. Dobson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome

(2021) Huijun Shi et al.   MEDICINE

Ovotesticular disorders of sex development (DSD) in FGF9 mouse models of human synostosis syndromes

(2020) Anthony D Bird et al.   HUMAN MOLECULAR GENETICS

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

(2020) Ann‐Charlotte Thuresson et al.   CLINICAL GENETICS

Tissue-specific knockout of E-cadherin (Cdh1) in developing mouse gonads causes germ cells loss

(2019) Rafal P. Piprek et al.   REPRODUCTION

New Insights from Unbiased Panel and Whole-Exome Sequencing in a Large Chinese Cohort with Disorders of Sex Development.

(2019) Yufei Xu et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Dysregulation of FGFR signalling by a selective inhibitor reduces germ cell survival in human fetal gonads of both sexes and alters the somatic niche in fetal testes

(2019) K Harpelunde Poulsen et al.   HUMAN REPRODUCTION

STRING v11: protein–protein association networks with increased coverage, supporting functional discovery in genome-wide experimental datasets

(2018) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9

(2018) Brittany Croft et al.   Nature Communications

Testis Determination Requires a Specific FGFR2 Isoform to Repress FOXL2

(2017) Stefan Bagheri-Fam et al.   ENDOCRINOLOGY

FGF9 mutation causes craniosynostosis along with multiple synostoses

(2017) Maria Rodriguez-Zabala et al.   HUMAN MUTATION

Signaling Pathways Involved in Mammalian Sex Determination and Gonad Development

(2016) Simon P. Windley et al.   Sexual Development

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

FGFR2mutation in 46,XY sex reversal with craniosynostosis

(2015) Stefan Bagheri-Fam et al.   HUMAN MOLECULAR GENETICS

Biglycan is a novel binding partner of fibroblast growth factor receptor 3c (FGFR3c) in the human testis

(2015) S.B. Winge et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

PathCards: multi-source consolidation of human biological pathways

(2015) Frida Belinky et al.   Database-The Journal of Biological Databases and Curation

Cpipe: a shared variant detection pipeline designed for diagnostic settings

(2015) Simon P. Sadedin et al.   Genome Medicine

The Sex-Determining Factors SRY and SOX9 Regulate Similar Target Genes and Promote Testis Cord Formation during Testicular Differentiation

(2014) Yunmin Li et al.   Cell Reports

Building the mammalian testis: origins, differentiation, and assembly of the component cell populations

(2013) T. Svingen et al.   GENES & DEVELOPMENT

Testis development requires the repression of Wnt4 by Fgf signaling

(2012) Samantha A. Jameson et al.   DEVELOPMENTAL BIOLOGY

FGF9 and FGF20 Maintain the Stemness of Nephron Progenitors in Mice and Man

(2012) Hila Barak et al.   DEVELOPMENTAL CELL

Absence of inactivating mutations and deletions in the DMRT1 and FGF9 genes in a large cohort of 46,XY patients with gonadal dysgenesis

(2012) Aline Zamboni Machado et al.   European Journal of Medical Genetics

Cytogenic and molecular analyses of 46,XX male syndrome with clinical comparison to other groups with testicular azoospermia of genetic origin

(2012) Han-Sun Chiang et al.   JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION

Sex Reversal in C57BL/6J XY Mice Caused by Increased Expression of Ovarian Genes and Insufficient Activation of the Testis Determining Pathway

(2012) Stephanie M. Correa et al.   PLoS Genetics

XY Sox9 embryonic loss-of-function mouse mutants show complete sex reversal and produce partially fertile XY oocytes

(2011) Rowena Lavery et al.   DEVELOPMENTAL BIOLOGY

Identification of De Novo Copy Number Variants Associated with Human Disorders of Sexual Development

(2010) Mounia Tannour-Louet et al.   PLoS One

Multiple Synostoses Syndrome Is Due to a Missense Mutation in Exon 2 of FGF9 Gene

(2009) Xiao-lin Wu et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homodimerization Controls the Fibroblast Growth Factor 9 Subfamily's Receptor Binding and Heparan Sulfate-Dependent Diffusion in the Extracellular Matrix

(2009) J. Kalinina et al.   MOLECULAR AND CELLULAR BIOLOGY

FGF9 monomer–dimer equilibrium regulates extracellular matrix affinity and tissue diffusion

(2009) Masayo Harada et al.   NATURE GENETICS