Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions.

PubWeight™: 0.77‹?›

🔗 View Article (PMID 26209787)

Published in Hum Reprod on July 24, 2015

Authors

Julia Spencer Barthold1, Yanping Wang2, Thomas F Kolon3, Claude Kollin4, Agneta Nordenskjöld4, Alicia Olivant Fisher2, T Ernesto Figueroa5, Ahmad H BaniHani5, Jennifer A Hagerty5, Ricardo Gonzaléz6, Paul H Noh7, Rosetta M Chiavacci8, Kisha R Harden8, Debra J Abrams8, Cecilia E Kim8, Jin Li8, Hakon Hakonarson9, Marcella Devoto10

Author Affiliations

1: Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA Division of Urology, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA jbarthol@nemours.org.
2: Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
3: Division of Urology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
4: Department of Women's and Children's Health, Karolinska Institutet, SE-171 76 Stockholm, Sweden.
5: Division of Urology, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA.
6: Division of Urology, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA Present address: Auf der Bult Kinder- und Jugendkrankenhaus, Hannover, Germany.
7: Division of Urology, Alfred I. duPont Hospital for Children, Wilmington, DE 19803, USA Present address: Division of Pediatric Urology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.
8: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
9: Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
10: Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Biostatistics and Epidemiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA Department of Molecular Medicine, Sapienza University, Rome, Italy.

Articles cited by this

PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet (2007) 209.92

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nat Protoc (2009) 137.99

Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists. Nucleic Acids Res (2008) 54.83

A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet (2009) 30.09

Topological domains in mammalian genomes identified by analysis of chromatin interactions. Nature (2012) 18.23

Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet (2012) 11.29

Genotype imputation with thousands of genomes. G3 (Bethesda) (2011) 8.77

Analysing biological pathways in genome-wide association studies. Nat Rev Genet (2010) 6.63

Standardized subsets of the HGDP-CEPH Human Genome Diversity Cell Line Panel, accounting for atypical and duplicated samples and pairs of close relatives. Ann Hum Genet (2006) 5.42

Data quality control in genetic case-control association studies. Nat Protoc (2010) 3.68

Genome-wide association analyses identify variants in developmental genes associated with hypospadias. Nat Genet (2014) 1.93

The androgen receptor gene mutations database: 2012 update. Hum Mutat (2012) 1.84

i-GSEA4GWAS: a web server for identification of pathways/gene sets associated with traits by applying an improved gene set enrichment analysis to genome-wide association study. Nucleic Acids Res (2010) 1.83

Genetic alterations associated with cryptorchidism. JAMA (2008) 1.81

The novel adaptor protein Tks4 (SH3PXD2B) is required for functional podosome formation. Mol Biol Cell (2009) 1.68

Shorter anogenital distance correlates with undescended testis: a detailed genital anthropometric analysis in human newborns. Hum Reprod (2013) 1.59

Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors. J Clin Endocrinol Metab (2005) 1.50

Insulin-like 3 exposure of the fetal rat gubernaculum modulates expression of genes involved in neural pathways. Biol Reprod (2010) 1.47

Boys with undescended testes: endocrine, volumetric and morphometric studies on testicular function before and after orchidopexy at nine months or three years of age. J Clin Endocrinol Metab (2012) 1.46

Role of hormones, genes, and environment in human cryptorchidism. Endocr Rev (2008) 1.34

Surgical treatment of unilaterally undescended testes: testicular growth after randomization to orchiopexy at age 9 months or 3 years. J Urol (2007) 1.29

Vav3, a Rho GTPase guanine nucleotide exchange factor, increases during progression to androgen independence in prostate cancer cells and potentiates androgen receptor transcriptional activity. Mol Endocrinol (2005) 1.25

Common variants in DGKK are strongly associated with risk of hypospadias. Nat Genet (2010) 1.23

GWAS3D: Detecting human regulatory variants by integrative analysis of genome-wide associations, chromosome interactions and histone modifications. Nucleic Acids Res (2013) 1.18

Cryptorchidism in mice with an androgen receptor ablation in gubernaculum testis. Mol Endocrinol (2012) 1.14

Altered expression of genes involved in regulation of vitamin A metabolism, solute transportation, and cytoskeletal function in the androgen-insensitive tfm mouse testis. Endocrinology (2007) 1.14

Endogenous coactivator ARA70 interacts with estrogen receptor alpha (ERalpha) and modulates the functional ERalpha/androgen receptor interplay in MCF-7 cells. J Biol Chem (2005) 1.10

Androgen-induced cell migration: role of androgen receptor/filamin A association. PLoS One (2011) 1.06

The role of insulin 3, testosterone, Müllerian inhibiting substance and relaxin in rat gubernacular growth. Mol Hum Reprod (2002) 1.06

Further delineation of Frank-ter Haar syndrome. Am J Med Genet A (2004) 1.03

Altered expression of muscle- and cytoskeleton-related genes in a rat strain with inherited cryptorchidism. J Androl (2008) 1.01

Suppression of insulin-like3 receptor reveals the role of β-catenin and Notch signaling in gubernaculum development. Mol Endocrinol (2010) 1.01

Anogenital distance and penile length in infants with hypospadias or cryptorchidism: comparison with normative data. Environ Health Perspect (2013) 1.00

Cryptorchidism concordance in monozygotic and dizygotic twin brothers, full brothers, and half-brothers. Fertil Steril (2008) 0.99

Identification of putative androgen receptor interaction protein modules: cytoskeleton and endosomes modulate androgen receptor signaling in prostate cancer cells. Mol Cell Proteomics (2006) 0.96

A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation. J Med Genet (2011) 0.96

Formin 1-isoform IV deficient cells exhibit defects in cell spreading and focal adhesion formation. PLoS One (2008) 0.95

Testicular growth from birth to two years of age, and the effect of orchidopexy at age nine months: a randomized, controlled study. Acta Paediatr (2006) 0.95

Cryptorchidism and endocrine disrupting chemicals. Mol Cell Endocrinol (2011) 0.94

Identification of a novel LXXLL motif in α-actinin 4-spliced isoform that is critical for its interaction with estrogen receptor α and co-activators. J Biol Chem (2012) 0.93

Frank-ter Haar syndrome protein Tks4 regulates epidermal growth factor-dependent cell migration. J Biol Chem (2012) 0.93

Familial risks for common diseases: etiologic clues and guidance to gene identification. Mutat Res (2008) 0.93

The enhancement of nuclear receptor transcriptional activation by a mouse actin-binding protein, alpha actinin 2. J Mol Endocrinol (2004) 0.92

The homolog of the five SH3-domain protein (HOFI/SH3PXD2B) regulates lamellipodia formation and cell spreading. PLoS One (2011) 0.91

Hormonal control of gubernaculum development during testis descent: gubernaculum outgrowth in vitro requires both insulin-like factor and androgen. Endocrinology (2000) 0.91

Cryptorchidism in the orl rat is associated with muscle patterning defects in the fetal gubernaculum and altered hormonal signaling. Biol Reprod (2014) 0.91

Effects of selective estrogen receptor modulators (SERMs) on coactivator nuclear receptor (NR) box binding to estrogen receptors. Mol Genet Metab (2002) 0.90

Transcriptome analysis of the dihydrotestosterone-exposed fetal rat gubernaculum identifies common androgen and insulin-like 3 targets. Biol Reprod (2013) 0.87

Cryptorchidism: a clinical perspective. Pediatr Endocrinol Rev (2014) 0.87

Molecular analysis of estrogen receptor alpha gene AGATA haplotype and SNP12 in European populations: potential protective effect for cryptorchidism and lack of association with male infertility. Hum Reprod (2006) 0.86

The actin cytoskeleton in rapid steroid hormone actions. Cytoskeleton (Hoboken) (2014) 0.84

Testosterone promotes vascular endothelial cell migration via upregulation of ROCK-2/moesin cascade. Mol Biol Rep (2013) 0.83

Familial aggregation of cryptorchidism--a nationwide cohort study. Am J Epidemiol (2008) 0.83

Genitourinary defects associated with genomic deletions in 2p15 encompassing OTX1. PLoS One (2014) 0.83

Analysis of homeobox gene HOXA10 mutations in cryptorchidism. J Urol (1999) 0.82

Hic-5 influences genomic and non-genomic actions of the androgen receptor in prostate myofibroblasts. Mol Cell Endocrinol (2014) 0.82

Actin associated proteins function as androgen receptor coregulators: an implication of androgen receptor's roles in skeletal muscle. J Steroid Biochem Mol Biol (2008) 0.82

Increased gene copy number of VAMP7 disrupts human male urogenital development through altered estrogen action. Nat Med (2014) 0.81

Actin monomer enhances supervillin-modulated androgen receptor transactivation. Biochem Biophys Res Commun (2004) 0.80

Gene expression alterations in cryptorchid males using spermatozoal microarray analysis. Fertil Steril (2008) 0.80

Allelic variants in HOX genes in cryptorchidism. Birth Defects Res A Clin Mol Teratol (2007) 0.80

Homeobox HOXA10 gene analysis in cryptorchidism. J Pediatr Endocrinol Metab (2004) 0.79

Analysis of five single nucleotide polymorphisms in the ESR1 gene in cryptorchidism. Birth Defects Res A Clin Mol Teratol (2008) 0.79

Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. J Urol (2014) 0.79

Altered infant feeding patterns in boys with acquired nonsyndromic cryptorchidism. Birth Defects Res A Clin Mol Teratol (2012) 0.78

Formin 1 and filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate. Hum Mol Genet (2014) 0.78

Isolated cryptorchidism: no evidence for involvement of genes underlying isolated hypogonadotropic hypogonadism. Mol Cell Endocrinol (2011) 0.77

A diminished postnatal surge of Ad spermatogonia in cryptorchid infants is additional evidence for hypogonadotropic hypogonadism. Swiss Med Wkly (2004) 0.76