The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice

Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?

(2018) Núria Camats et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients

(2018) Beatriz Puisac et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Loss of p300 and CBP disrupts histone acetylation at the mouse Sry promoter and causes XY gonadal sex reversal

(2017) Gwenn-Aël Carré et al.   HUMAN MOLECULAR GENETICS

Functional characterization of novel NR5A1  variants reveals multiple complex roles in disorders of sex development

(2017) Gorjana Robevska et al.   HUMAN MUTATION

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

(2017) James Hughes et al.   Scientific Reports

Ketogenesis contributes to intestinal cell differentiation

(2016) Qingding Wang et al.   CELL DEATH AND DIFFERENTIATION

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis

(2016) Inas Mazen et al.   Sexual Development

Tob1 is expressed in developing and adult gonads and is associated with the P-body marker, Dcp2

(2015) Farnaz Shapouri et al.   CELL AND TISSUE RESEARCH

Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development

(2015) Ruth M. Baxter et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The Retinal Pigment Epithelium Utilizes Fatty Acids for Ketogenesis

(2014) Jeffrey Adijanto et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disorders of Sex Development (DSDs): An Update

(2014) Harry Ostrer   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations

(2014) James J. Pitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

(2014) Patrick Callier et al.   PLoS Genetics

New case of mitochondrial HMG-CoA synthase deficiency. Functional analysis of eight mutations

(2013) Mónica Ramos et al.   European Journal of Medical Genetics

Novel PCR Assay for Determining the Genetic Sex of Mice

(2013) L. McFarlane et al.   Sexual Development

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

Identification of Novel Markers of Mouse Fetal Ovary Development

(2012) Huijun Chen et al.   PLoS One

Three-Dimensional Imaging of Prox1-EGFP Transgenic Mouse Gonads Reveals Divergent Modes of Lymphangiogenesis in the Testis and Ovary

(2012) Terje Svingen et al.   PLoS One

Suppression of Oxidative Stress by  -Hydroxybutyrate, an Endogenous Histone Deacetylase Inhibitor

(2012) T. Shimazu et al.   SCIENCE

Loss of R-Spondin1 and Foxl2 Amplifies Female-to-Male Sex Reversal in XX Mice

(2011) A. Auguste et al.   Sexual Development

Mutations in MAP3K1 Cause 46,XY Disorders of Sex Development and Implicate a Common Signal Transduction Pathway in Human Testis Determination

(2010) Alexander Pearlman et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Crystal Structures of Human HMG-CoA Synthase Isoforms Provide Insights into Inherited Ketogenesis Disorders and Inhibitor Design

(2010) Naeem Shafqat et al.   JOURNAL OF MOLECULAR BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Normalizing Gene Expression Levels in Mouse Fetal Germ Cells1

(2009) Jocelyn A. van den Bergen et al.   BIOLOGY OF REPRODUCTION

Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development

(2009) Juan Carlos Polanco et al.   HUMAN MOLECULAR GENETICS

Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice

(2009) Dagmar Wilhelm et al.   MECHANISMS OF DEVELOPMENT

Identification of Suitable Normalizing Genes for Quantitative Real-Time RT-PCR Analysis of Gene Expression in Fetal Mouse Gonads

(2009) T. Svingen et al.   Sexual Development

Establishment of testis-specific SOX9 activation requires high-glucose metabolism in mouse sex differentiation

(2008) Shogo Matoba et al.   DEVELOPMENTAL BIOLOGY

R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling

(2008) Kazuma Tomizuka et al.   HUMAN MOLECULAR GENETICS

Stabilization of β-catenin in XY gonads causes male-to-female sex-reversal

(2008) Danielle M. Maatouk et al.   HUMAN MOLECULAR GENETICS

Activation of  -catenin signaling by Rspo1 controls differentiation of the mammalian ovary

(2008) A.-A. Chassot et al.   HUMAN MOLECULAR GENETICS

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

(2008) Ryohei Sekido et al.   NATURE