(Q38049482)

27 August 2017

title

Gene mutations associated with anomalies of human gonad formation (English)

1 reference

27 August 2017

A Bashamboo

1

1 reference

27 August 2017

K McElreavey

series ordinal

2

1 reference

27 August 2017

publication date

3 October 2012

1 reference

27 August 2017

1 reference

27 August 2017

volume

7

1 reference

27 August 2017

issue

1-3

1 reference

27 August 2017

page(s)

126-146

1 reference

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

27 August 2017

cites work

1 reference

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

21 January 2018

1 reference

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure

21 January 2018

1 reference

True hermaphroditism with partial duplication of chromosome 22 and without SRY.

21 January 2018

1 reference

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

21 January 2018

1 reference

Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls

21 January 2018

1 reference

Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome

21 January 2018

1 reference

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

21 January 2018

1 reference

Activation of the Hedgehog pathway in the mouse fetal ovary leads to ectopic appearance of fetal Leydig cells and female pseudohermaphroditism

21 January 2018

1 reference

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

21 January 2018

1 reference

New Technologies for the Identification of Novel Genetic Markers of Disorders of Sex Development (DSD)

21 January 2018

1 reference

Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence

21 January 2018

1 reference

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

21 January 2018

1 reference

Acquisition of SOX transcription factor specificity through protein-protein interaction, modulation of Wnt signalling and post-translational modification.

21 January 2018

1 reference

ATRX in chromatin assembly and genome architecture during development and disease.

21 January 2018

1 reference

Control of sex development

21 January 2018

1 reference

Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency

21 January 2018

1 reference

A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

21 January 2018

1 reference

WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report

21 January 2018

1 reference

Ovaries and female phenotype in a girl with 46,XY karyotype and mutations in the CBX2 gene

21 January 2018

1 reference

Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination

21 January 2018

1 reference

The effect of human GATA4 gene mutations on the activity of target gonadal promoters.

21 January 2018

1 reference

Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.

21 January 2018

1 reference

Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice.

21 January 2018

1 reference

A cell-autonomous role for WT1 in regulating Sry in vivo

21 January 2018

1 reference

Maintenance of gene expression patterns

21 January 2018

1 reference

A de novo mutation (Gln2Stop) at the 5' end of the SRY gene leads to sex reversal with partial ovarian function

21 January 2018

1 reference

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

21 January 2018

1 reference

Altered position of cell bodies and fibers in the ventromedial region in SF-1 knockout mice

21 January 2018

1 reference

The transcription factor FOXL2: at the crossroads of ovarian physiology and pathology

21 January 2018

1 reference

A novel germ line mutation in SOX9 causes familial campomelic dysplasia and sex reversal

21 January 2018

1 reference

Mutations in the desert hedgehog (DHH) gene in patients with 46,XY complete pure gonadal dysgenesis

21 January 2018

1 reference

Coregulation of GATA factors by the Friend of GATA (FOG) family of multitype zinc finger proteins

21 January 2018

1 reference

R-spondins function as ligands of the orphan receptors LGR4 and LGR5 to regulate Wnt/beta-catenin signaling

21 January 2018

1 reference

Genetics of ovarian differentiation: Rspo1, a major player

21 January 2018

1 reference

Genetic aspects of premature ovarian failure: a literature review

21 January 2018

1 reference

A microdeletion in the ligand binding domain of human steroidogenic factor 1 causes XY sex reversal without adrenal insufficiency

21 January 2018

1 reference

A SOX9 duplication and familial 46,XX developmental testicular disorder

21 January 2018

1 reference

Proper coronary vascular development and heart morphogenesis depend on interaction of GATA-4 with FOG cofactors

21 January 2018

1 reference

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome

21 January 2018

1 reference

Novel homozygous mutations in Desert hedgehog gene in patients with 46,XY complete gonadal dysgenesis and prediction of its structural and functional implications by computational methods

21 January 2018

1 reference

Transcriptional regulation by MAP kinases

21 January 2018

1 reference

FOXL2 mutation screening in a large panel of POF patients and XX males

21 January 2018

1 reference

Smith-Lemli-Opitz syndrome

21 January 2018

1 reference

Lgr5 homologues associate with Wnt receptors and mediate R-spondin signalling

21 January 2018

1 reference

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene

21 January 2018

1 reference

A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease

21 January 2018

1 reference

The bone morphogenetic protein 15 gene is X-linked and expressed in oocytes

21 January 2018

1 reference

Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development

21 January 2018

1 reference

Stimulation of DNA strand exchange by the human TBPIP/Hop2-Mnd1 complex.

21 January 2018

1 reference

Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis.

21 January 2018

1 reference

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

Mutations in an oocyte-derived growth factor gene (BMP15) cause increased ovulation rate and infertility in a dosage-sensitive manner

21 January 2018

1 reference

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5

21 January 2018

1 reference

Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping

21 January 2018

1 reference

WT1 and DAX-1 regulate SF-1-mediated human P450arom gene expression in gonadal cells

21 January 2018

1 reference

Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress

21 January 2018

1 reference

SRY, SOX9, and DAX1 expression patterns during human sex determination and gonadal development

21 January 2018

1 reference

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

21 January 2018

1 reference

Dmrt1 genes at the crossroads: a widespread and central class of sexual development factors in fish

21 January 2018

1 reference

Alternative splicing at a NAGNAG acceptor site as a novel phenotype modifier

21 January 2018

1 reference

Autosomal XX sex reversal caused by duplication of SOX9.

21 January 2018

1 reference

Consensus statement on management of intersex disorders

21 January 2018

1 reference

ATRX has a critical and conserved role in mammalian sexual differentiation

21 January 2018

1 reference

Molecular cloning and characterization of a human homologue of TBPIP, a BRCA1 locus-related gene

21 January 2018

1 reference

Mechanisms and functions of Hedgehog signalling across the metazoa

21 January 2018

1 reference

The nuclear receptor steroidogenic factor 1 acts at multiple levels of the reproductive axis

21 January 2018

1 reference

Molecular mechanisms of DAX1 action

21 January 2018

1 reference

Endothelial and steroidogenic cell migration are regulated by WNT4 in the developing mammalian gonad

21 January 2018

1 reference

Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function

21 January 2018

1 reference

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

21 January 2018

1 reference

Male-to-female sex reversal in M33 mutant mice

21 January 2018

1 reference

Mouse Polycomb M33 is required for splenic vascular and adrenal gland formation through regulating Ad4BP/SF1 expression

21 January 2018

1 reference

A missense mutation of the Dhh gene is associated with male pseudohermaphroditic rats showing impaired Leydig cell development

21 January 2018

1 reference

The cloning of the human follicle stimulating hormone receptor and its expression in COS-7, CHO, and Y-1 cells

21 January 2018

1 reference

Expression of transcription factor GATA-4 during human testicular development and disease.

21 January 2018

1 reference

Steroidogenic factor 1 directs programs regulating diet-induced thermogenesis and leptin action in the ventral medial hypothalamic nucleus.

21 January 2018

1 reference

Fgf9 and Wnt4 act as antagonistic signals to regulate mammalian sex determination

21 January 2018

1 reference

Fibroblast growth factor receptor 2 regulates proliferation and Sertoli differentiation during male sex determination

21 January 2018

1 reference

The SRY high-mobility-group box recognizes DNA by partial intercalation in the minor groove: a topological mechanism of sequence specificity

21 January 2018

1 reference

Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations

21 January 2018

1 reference

Identification and characterization of a tissue-specific coactivator, GT198, that interacts with the DNA-binding domains of nuclear receptors.

21 January 2018

1 reference

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

21 January 2018

1 reference

Analysis of the Wilms' tumor suppressor gene (WT1) in patients 46,XY disorders of sex development.

21 January 2018

1 reference

Duplications of noncoding elements 5' of SOX9 are associated with brachydactyly-anonychia.

21 January 2018

1 reference

Abnormal epithelial cell polarity and ectopic epidermal growth factor receptor (EGFR) expression induced in Emx2 KO embryonic gonads.

21 January 2018

1 reference

Impact of follicle stimulating hormone receptor variants in fertility

21 January 2018

1 reference

Epistatic selection between coding and regulatory variation in human evolution and disease

21 January 2018

1 reference

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency

21 January 2018

1 reference

ATR-X syndrome protein targets tandem repeats and influences allele-specific expression in a size-dependent manner.

21 January 2018

1 reference

Eliminating SF-1 (NR5A1) sumoylation in vivo results in ectopic hedgehog signaling and disruption of endocrine development

21 January 2018

1 reference

The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification

21 January 2018

1 reference

Two novel translocation breakpoints upstream of SOX9 define borders of the proximal and distal breakpoint cluster region in campomelic dysplasia

21 January 2018

1 reference

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development

21 January 2018

1 reference

Mutations in NR5A1 associated with ovarian insufficiency

21 January 2018

1 reference

Loss-of-function mutation in GATA4 causes anomalies of human testicular development

21 January 2018

1 reference

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

21 January 2018

1 reference

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

21 January 2018

1 reference

DMRT1 prevents female reprogramming in the postnatal mammalian testis

21 January 2018

1 reference

Sex determination and the Y chromosome

21 January 2018

1 reference

X-Y translocations and sex differentiation

21 January 2018

1 reference

XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region

21 January 2018

1 reference

Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination.

21 January 2018

1 reference

Requirement of the transcription factor GATA4 for heart tube formation and ventral morphogenesis

21 January 2018

1 reference

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

21 January 2018

1 reference

Clinical practice. Primary ovarian insufficiency

21 January 2018

1 reference

WT1 and glomerular diseases

21 January 2018

1 reference

Genetic evidence for a novel gene(s) involved in urogenital development on 10q26.

21 January 2018

1 reference

Ontogeny of follicle-stimulating hormone receptor gene expression in isolated human ovarian follicles.

21 January 2018

1 reference

Bone morphogenetic protein-15. Identification of target cells and biological functions

21 January 2018

1 reference

Deletions of 9p and the quest for a conserved mechanism of sex determination

21 January 2018

1 reference

Foxl2 is required for commitment to ovary differentiation

21 January 2018

1 reference

A 11.7-kb deletion triggers intersexuality and polledness in goats

21 January 2018

1 reference

FOXL2 interacts with steroidogenic factor-1 (SF-1) and represses SF-1-induced CYP17 transcription in granulosa cells

21 January 2018

1 reference

Distinct roles for steroidogenic factor 1 and desert hedgehog pathways in fetal and adult Leydig cell development

21 January 2018

1 reference

R-spondin1 is essential in sex determination, skin differentiation and malignancy.

21 January 2018

1 reference

The role of oocyte-secreted factors GDF9 and BMP15 in follicular development and oogenesis

21 January 2018

1 reference

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

21 January 2018

1 reference

The Hop2 protein has a direct role in promoting interhomolog interactions during mouse meiosis

21 January 2018

1 reference

Campomelic dysplasia translocation breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an extended control region

21 January 2018

1 reference

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

21 January 2018

1 reference

Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study

21 January 2018

1 reference

Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome).

21 January 2018

1 reference

Mammalian testis-determining factor SRY and the enigma of inherited human sex reversal: frustrated induced fit in a bent protein-DNA complex.

21 January 2018

1 reference

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

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

21 January 2018

1 reference

NOBOX homeobox mutation causes premature ovarian failure

21 January 2018

1 reference

Mutation analysis of NOBOX homeodomain in Chinese women with premature ovarian failure

21 January 2018

1 reference

NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression

21 January 2018

1 reference

Evidence for evolutionary conservation of sex-determining genes

21 January 2018

1 reference

Dmrt1, a gene related to worm and fly sexual regulators, is required for mammalian testis differentiation

21 January 2018

1 reference

Symposium: Update on prediction and management of OHSS. Genetics of ovarian hyperstimulation syndrome

21 January 2018

1 reference

Minireview: steroidogenic factor 1: its roles in differentiation, development, and disease

21 January 2018

1 reference

Determination and stability of gonadal sex

21 January 2018

1 reference

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

21 January 2018

1 reference

Sex determination and SRY: down to a wink and a nudge?

21 January 2018

1 reference

Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade

21 January 2018

1 reference

The avian Z-linked gene DMRT1 is required for male sex determination in the chicken

21 January 2018

1 reference

Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1).

21 January 2018

1 reference

Multiple steroidogenic factor 1 binding elements in the human steroidogenic acute regulatory protein gene 5'-flanking region are required for maximal promoter activity and cyclic AMP responsiveness.

21 January 2018

1 reference

Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings

21 January 2018

1 reference

Identification of SOX3 as an XX male sex reversal gene in mice and humans

21 January 2018

1 reference

Acampomelic campomelic dysplasia withSOX9 mutation

21 January 2018

1 reference

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

21 January 2018

1 reference

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

21 January 2018

1 reference

Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain

21 January 2018

1 reference

Somatic sex reprogramming of adult ovaries to testes by FOXL2 ablation

21 January 2018

1 reference

Female development in mammals is regulated by Wnt-4 signalling

21 January 2018

1 reference

XX males SRY negative: a confirmed cause of infertility

21 January 2018

1 reference

Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses.

21 January 2018

1 reference

Role of the GATA family of transcription factors in endocrine development, function, and disease

21 January 2018

1 reference

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

Three New SF-1 <i>(NR5A1) </i>Gene Mutations in Two Unrelated Families with Multiple Affected Members: Within-Family Variability in 46,XY Subjects and Low Ovarian Reserve in Fertile 46,XX Subjects

21 January 2018

1 reference

Minor abnormalities of testis development in mice lacking the gene encoding the MAPK signalling component, MAP3K1.

21 January 2018

1 reference

WNT4 and RSPO1 are not involved in a case of male-to-female sex reversal with partial duplication of 1p.

21 January 2018

1 reference

The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1.

21 January 2018

1 reference

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism

21 January 2018

1 reference

Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene

21 January 2018

1 reference

Dax-1 and steroid receptor RNA activator (SRA) function as transcriptional coactivators for steroidogenic factor 1 in steroidogenesis

21 January 2018

1 reference

Synergistic activation of the Mc2r promoter by FOXL2 and NR5A1 in mice

21 January 2018

1 reference

Desert Hedgehog/Patched 1 signaling specifies fetal Leydig cell fate in testis organogenesis

21 January 2018

1 reference

XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription

21 January 2018

1 reference

Central nervous system-specific knockout of steroidogenic factor 1 results in increased anxiety-like behavior.

21 January 2018

1 reference

Mutational analysis of the homeobox region of the human NOBOX gene in Japanese women who exhibit premature ovarian failure

21 January 2018

1 reference

A Novel Human Sex-Determining Gene Linked to Xp11.21-11.23

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1159/000342188

1 reference

27 August 2017

1 reference