Published in Eur J Hum Genet on November 09, 2011
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain (2013) 1.14
Disorders of sex development: new genes, new concepts. Nat Rev Endocrinol (2012) 1.12
DSDs: genetics, underlying pathologies and psychosexual differentiation. Nat Rev Endocrinol (2014) 0.91
WWOX and severe autosomal recessive epileptic encephalopathy: first case in the prenatal period. J Hum Genet (2015) 0.84
Translational genetics for diagnosis of human disorders of sex development. Annu Rev Genomics Hum Genet (2013) 0.83
WWOX, the chromosomal fragile site FRA16D spanning gene: its role in metabolism and contribution to cancer. Exp Biol Med (Maywood) (2015) 0.79
Diagnostic Application of Targeted Next-Generation Sequencing of 80 Genes Associated with Disorders of Sexual Development. Sci Rep (2017) 0.75
Consensus statement on management of intersex disorders. International Consensus Conference on Intersex. Pediatrics (2006) 4.40
WWOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer. Cancer Res (2000) 4.07
WWOX: a candidate tumor suppressor gene involved in multiple tumor types. Proc Natl Acad Sci U S A (2001) 2.79
Sex determination and gonadal development in mammals. Physiol Rev (2007) 2.60
POU5F1 (OCT3/4) identifies cells with pluripotent potential in human germ cell tumors. Cancer Res (2003) 2.45
Germ cell tumors in the intersex gonad: old paths, new directions, moving frontiers. Endocr Rev (2006) 2.40
Targeted deletion of Wwox reveals a tumor suppressor function. Proc Natl Acad Sci U S A (2007) 2.37
Functional association between Wwox tumor suppressor protein and p73, a p53 homolog. Proc Natl Acad Sci U S A (2004) 1.91
Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal. Hum Mol Genet (2008) 1.90
Physical and functional interactions between the Wwox tumor suppressor protein and the AP-2gamma transcription factor. Cancer Res (2004) 1.74
WWOX: its genomics, partners, and functions. J Cell Biochem (2009) 1.52
Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest (2010) 1.50
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One (2011) 1.32
FOXL2 and SOX9 as parameters of female and male gonadal differentiation in patients with various forms of disorders of sex development (DSD). J Pathol (2008) 1.29
WWOX protein expression in normal human tissues. J Mol Histol (2006) 1.22
Copy number variation and mosaicism. Cytogenet Genome Res (2009) 1.20
Targeted ablation of the WW domain-containing oxidoreductase tumor suppressor leads to impaired steroidogenesis. Endocrinology (2008) 1.19
Inhibition of the Wnt/beta-catenin pathway by the WWOX tumor suppressor protein. Oncogene (2009) 1.15
WWOX hypomorphic mice display a higher incidence of B-cell lymphomas and develop testicular atrophy. Genes Chromosomes Cancer (2007) 1.13
Detecting copy number changes in genomic DNA: MAPH and MLPA. Methods Cell Biol (2004) 1.12
Stem cell factor as a novel diagnostic marker for early malignant germ cells. J Pathol (2008) 1.00
Gonadal development and tumor formation at the crossroads of male and female sex determination. Sex Dev (2011) 0.87
Patterns of somatic mutation in human cancer genomes. Nature (2007) 38.41
Retinoid signaling determines germ cell fate in mice. Science (2006) 4.17
Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. Dev Cell (2002) 3.39
Sox18 induces development of the lymphatic vasculature in mice. Nature (2008) 2.91
Sex determination and gonadal development in mammals. Physiol Rev (2007) 2.60
Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators. Curr Opin Genet Dev (2002) 2.24
Expression of distinct RNAs from 3' untranslated regions. Nucleic Acids Res (2010) 2.08
Redundant roles of Sox17 and Sox18 in postnatal angiogenesis in mice. J Cell Sci (2006) 2.05
BMP receptor signaling is required for postnatal maintenance of articular cartilage. PLoS Biol (2004) 2.05
Genesis and expansion of metazoan transcription factor gene classes. Mol Biol Evol (2008) 2.01
Retinoic acid, meiosis and germ cell fate in mammals. Development (2007) 1.91
Novel associations in disorders of sex development: findings from the I-DSD Registry. J Clin Endocrinol Metab (2013) 1.76
Hypoxia induces chondrocyte-specific gene expression in mesenchymal cells in association with transcriptional activation of Sox9. Bone (2005) 1.68
Redundant roles of Sox17 and Sox18 in early cardiovascular development of mouse embryos. Biochem Biophys Res Commun (2007) 1.68
The role of reducing intakes of saturated fat in the prevention of cardiovascular disease: where does the evidence stand in 2010? Am J Clin Nutr (2011) 1.66
FGF9 suppresses meiosis and promotes male germ cell fate in mice. Dev Cell (2010) 1.64
Sox18 and Sox7 play redundant roles in vascular development. Blood (2007) 1.60
Seeds of concern. Nature (2004) 1.57
Sertoli cell differentiation is induced both cell-autonomously and through prostaglandin signaling during mammalian sex determination. Dev Biol (2005) 1.55
Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes (2006) 1.53
Sry: the master switch in mammalian sex determination. Development (2010) 1.52
Identification of SOX3 as an XX male sex reversal gene in mice and humans. J Clin Invest (2010) 1.50
SOX9 regulates prostaglandin D synthase gene transcription in vivo to ensure testis development. J Biol Chem (2007) 1.42
Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene. Cancer Res (2006) 1.41
SoxF genes: Key players in the development of the cardio-vascular system. Int J Biochem Cell Biol (2009) 1.41
Germ cells enter meiosis in a rostro-caudal wave during development of the mouse ovary. Mol Reprod Dev (2004) 1.38
SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes. Matrix Biol (2003) 1.37
Identification of germ cells at risk for neoplastic transformation in gonadoblastoma: an immunohistochemical study for OCT3/4 and TSPY. Hum Pathol (2005) 1.36
Endothelial cell migration directs testis cord formation. Dev Biol (2008) 1.35
The makings of maleness: towards an integrated view of male sexual development. Nat Rev Genet (2006) 1.35
Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet (2011) 1.34
Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes. Hum Mol Genet (2006) 1.33
Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PLoS One (2011) 1.32
SOX8 is expressed during testis differentiation in mice and synergizes with SF1 to activate the Amh promoter in vitro. J Biol Chem (2003) 1.28
Etiology of ovarian failure in blepharophimosis ptosis epicanthus inversus syndrome: FOXL2 is a conserved, early-acting gene in vertebrate ovarian development. Endocrinology (2003) 1.28
Mouse germ cell development: from specification to sex determination. Mol Cell Endocrinol (2009) 1.24
Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal. Dev Biol (2005) 1.24
Sry and the hesitant beginnings of male development. Dev Biol (2006) 1.22
Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination. Am J Hum Genet (2010) 1.21
New insights into type II germ cell tumor pathogenesis based on studies of patients with various forms of disorders of sex development (DSD). Mol Cell Endocrinol (2008) 1.19
Transurethral resection of the prostate syndrome: almost gone but not forgotten. J Endourol (2009) 1.18
Initiating meiosis: the case for retinoic acid. Biol Reprod (2012) 1.17
Antiandrogens prevent stable DNA-binding of the androgen receptor. J Cell Sci (2005) 1.16
Mammalian sex determination—insights from humans and mice. Chromosome Res (2012) 1.14
A critical time window of Sry action in gonadal sex determination in mice. Development (2008) 1.14
Rectal adenocarcinoma with choriocarcinomatous differentiation: clinical and genetic aspects. Hum Pathol (2004) 1.13
Sox8 is a critical regulator of adult Sertoli cell function and male fertility. Dev Biol (2008) 1.13
In situ hybridization of whole-mount embryos. Methods Mol Biol (2006) 1.13
Building the mammalian testis: origins, differentiation, and assembly of the component cell populations. Genes Dev (2013) 1.13
Sox7 and Sox17 are strain-specific modifiers of the lymphangiogenic defects caused by Sox18 dysfunction in mice. Development (2009) 1.13
The androgen receptor ligand-binding domain stabilizes DNA binding in living cells. J Struct Biol (2004) 1.11
Sox18 mutations in the ragged mouse alleles ragged-like and opossum. Genesis (2003) 1.11
Epigenetic regulation of mouse sex determination by the histone demethylase Jmjd1a. Science (2013) 1.11
Sox10 gain-of-function causes XX sex reversal in mice: implications for human 22q-linked disorders of sex development. Hum Mol Genet (2009) 1.11
Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination. PLoS Biol (2009) 1.10
Sex determination in mammalian germ cells: extrinsic versus intrinsic factors. Reproduction (2010) 1.10
Coordinated expression of scleraxis and Sox9 genes during embryonic development of tendons and cartilage. J Orthop Res (2002) 1.09
Further characterization of the first seminoma cell line TCam-2. Genes Chromosomes Cancer (2008) 1.09
Segmental territories along the cardinal veins generate lymph sacs via a ballooning mechanism during embryonic lymphangiogenesis in mice. Dev Biol (2011) 1.08
Novel FXXFF and FXXMF motifs in androgen receptor cofactors mediate high affinity and specific interactions with the ligand-binding domain. J Biol Chem (2006) 1.08
Chromosomes and expression in human testicular germ-cell tumors: insight into their cell of origin and pathogenesis. Ann N Y Acad Sci (2007) 1.07
Distinct recognition modes of FXXLF and LXXLL motifs by the androgen receptor. Mol Endocrinol (2004) 1.06
Male gender identity in complete androgen insensitivity syndrome. Arch Sex Behav (2010) 1.05
Identification of lineage-uncommitted, long-lived, label-retaining cells in healthy human esophagus and stomach, and in metaplastic esophagus. Gastroenterology (2012) 1.05
Antagonism of the testis- and ovary-determining pathways during ovotestis development in mice. Mech Dev (2009) 1.05
Identification of novel markers of mouse fetal ovary development. PLoS One (2012) 1.03
The transcription factors steroidogenic factor-1 and SOX9 regulate expression of Vanin-1 during mouse testis development. J Biol Chem (2004) 1.02
Tumor risk in disorders of sex development (DSD). Best Pract Res Clin Endocrinol Metab (2007) 1.02
SOX9 regulates microRNA miR-202-5p/3p expression during mouse testis differentiation. Biol Reprod (2013) 1.02
Onset of meiosis in the chicken embryo; evidence of a role for retinoic acid. BMC Dev Biol (2008) 1.02
Control of mammalian germ cell entry into meiosis. Mol Cell Endocrinol (2013) 1.01
Three-dimensional visualization of testis cord morphogenesis, a novel tubulogenic mechanism in development. Dev Dyn (2009) 1.01
A long-term outcome study of intersex conditions. J Pediatr Endocrinol Metab (2005) 1.00
Effect of disrupted SOX18 transcription factor function on tumor growth, vascularization, and endothelial development. J Natl Cancer Inst (2006) 1.00
Conserved regulatory modules in the Sox9 testis-specific enhancer predict roles for SOX, TCF/LEF, Forkhead, DMRT, and GATA proteins in vertebrate sex determination. Int J Biochem Cell Biol (2009) 0.98
Improving epinephrine responses in hypoglycemia unawareness with real-time continuous glucose monitoring in adolescents with type 1 diabetes. Diabetes Care (2010) 0.97
Genomic screen for genes involved in mammalian craniofacial development. Genesis (2003) 0.97
Tumor lymphangiogenesis as a potential therapeutic target. J Oncol (2012) 0.97
Retinoblastoma 1 protein modulates XY germ cell entry into G1/G0 arrest during fetal development in mice. Biol Reprod (2009) 0.95
FOXL2 and BMP2 act cooperatively to regulate follistatin gene expression during ovarian development. Endocrinology (2010) 0.95
Expression of the tudor-related gene Tdrd5 during development of the male germline in mice. Gene Expr Patterns (2004) 0.95
The distribution and behavior of extragonadal primordial germ cells in Bax mutant mice suggest a novel origin for sacrococcygeal germ cell tumors. Int J Dev Biol (2008) 0.94
Loss of Wnt5a disrupts primordial germ cell migration and male sexual development in mice. Biol Reprod (2012) 0.94
Modeling sediment and nitrogen export from a rural watershed in eastern Canada using the soil and water assessment tool. J Environ Qual (2011) 0.94
Mutation in the type IB bone morphogenetic protein receptor Alk6b impairs germ-cell differentiation and causes germ-cell tumors in zebrafish. Proc Natl Acad Sci U S A (2011) 0.94
Endogenous Nodal signaling regulates germ cell potency during mammalian testis development. Development (2012) 0.94
Recent developments in testicular germ cell tumor research. Birth Defects Res C Embryo Today (2009) 0.93
Gonadal tumours and DSD. Best Pract Res Clin Endocrinol Metab (2010) 0.93
Evaluation of candidate markers for the peritubular myoid cell lineage in the developing mouse testis. Reproduction (2005) 0.93