The Genetics of Infertility: Current Status of the Field.

PubWeight™: 0.85‹?›

🔗 View Article (PMID 24416713)

Published in Curr Genet Med Rep on December 01, 2013

Authors

Michelle Zorrilla1, Alexander N Yatsenko1

Author Affiliations

1: Departments of Obstetrics, Gynecology and Reproductive Sciences, Pathology, School of Medicine, University of Pittsburgh.

Articles cited by this

(truncated to the top 100)

Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature (1990) 10.97

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell (1994) 7.39

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature (1994) 7.30

Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene. Nat Genet (1995) 5.02

Reproductive technologies and the risk of birth defects. N Engl J Med (2012) 4.95

A marker X chromosome. Am J Hum Genet (1969) 4.68

The biology of infertility: research advances and clinical challenges. Nat Med (2008) 4.62

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation. Cell (1994) 4.55

Severe oligozoospermia resulting from deletions of azoospermia factor gene on Y chromosome. Lancet (1996) 4.28

The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet (2001) 4.24

Female development in mammals is regulated by Wnt-4 signalling. Nature (1999) 4.13

R-spondin1 is essential in sex determination, skin differentiation and malignancy. Nat Genet (2006) 3.92

Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet (1996) 3.78

Haploinsufficiency of protamine-1 or -2 causes infertility in mice. Nat Genet (2001) 3.72

Polycystic ovary syndrome. Lancet (2007) 3.62

Delayed childbearing: more women are having their first child later in life. NCHS Data Brief (2009) 3.48

CFTR regulates outwardly rectifying chloride channels through an autocrine mechanism involving ATP. Cell (1995) 3.46

MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science (2011) 3.17

Generation and characterization of androgen receptor knockout (ARKO) mice: an in vivo model for the study of androgen functions in selective tissues. Proc Natl Acad Sci U S A (2002) 3.08

Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet (2010) 3.02

NOBOX deficiency disrupts early folliculogenesis and oocyte-specific gene expression. Science (2004) 2.77

Characterization of uterine leiomyomas by whole-genome sequencing. N Engl J Med (2013) 2.65

Fragile X syndrome: diagnostic and carrier testing. Genet Med (2005) 2.45

FIGalpha, a germ cell-specific transcription factor required for ovarian follicle formation. Development (2000) 2.20

The genetic causes of male factor infertility: a review. Fertil Steril (2010) 2.19

Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet (2009) 2.12

Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. J Cell Biol (2010) 2.11

Inactivation of the HR6B ubiquitin-conjugating DNA repair enzyme in mice causes male sterility associated with chromatin modification. Cell (1996) 2.08

Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis. Nat Genet (2010) 2.04

Linkage and association of insulin gene VNTR regulatory polymorphism with polycystic ovary syndrome. Lancet (1997) 1.91

Germ cell differentiation and synaptonemal complex formation are disrupted in CPEB knockout mice. Dev Cell (2001) 1.90

Candidate gene region for polycystic ovary syndrome on chromosome 19p13.2. J Clin Endocrinol Metab (2005) 1.84

Family-based analysis of candidate genes for polycystic ovary syndrome. J Clin Endocrinol Metab (2010) 1.84

Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation. Hum Mol Genet (2001) 1.84

Genomewide linkage study in 1,176 affected sister pair families identifies a significant susceptibility locus for endometriosis on chromosome 10q26. Am J Hum Genet (2005) 1.76

Copy number variants in patients with severe oligozoospermia and Sertoli-cell-only syndrome. PLoS One (2011) 1.75

Sohlh1 is essential for spermatogonial differentiation. Dev Biol (2006) 1.74

Hypergonadotropic ovarian failure associated with an inherited mutation of human bone morphogenetic protein-15 (BMP15) gene. Am J Hum Genet (2004) 1.72

Homozygous mutation of AURKC yields large-headed polyploid spermatozoa and causes male infertility. Nat Genet (2007) 1.71

Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia. Am J Hum Genet (2007) 1.71

Thirty-seven candidate genes for polycystic ovary syndrome: strongest evidence for linkage is with follistatin. Proc Natl Acad Sci U S A (1999) 1.68

Cell cycle-dependent expression and centrosome localization of a third human aurora/Ipl1-related protein kinase, AIK3. J Biol Chem (1999) 1.59

A genome-wide association study identifies genetic variants in the CDKN2BAS locus associated with endometriosis in Japanese. Nat Genet (2010) 1.57

A review of trisomy X (47,XXX). Orphanet J Rare Dis (2010) 1.53

Hypergonadotropic hypogonadism in female patients with galactosemia. N Engl J Med (1981) 1.47

Missense mutations in SLC26A8, encoding a sperm-specific activator of CFTR, are associated with human asthenozoospermia. Am J Hum Genet (2013) 1.45

Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair. PLoS Genet (2009) 1.44

Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas. PLoS One (2012) 1.43

Dynamic localization and functional implications of Aurora-C kinase during male mouse meiosis. Dev Biol (2006) 1.43

Clinical Review#: State of the art for genetic testing of infertile men. J Clin Endocrinol Metab (2010) 1.39

Ovarian differentiation and gonadal failure. Am J Med Genet (1999) 1.39

NOBOX homeobox mutation causes premature ovarian failure. Am J Hum Genet (2007) 1.37

Identification of a polycystic ovary syndrome susceptibility variant in fibrillin-3 and association with a metabolic phenotype. J Clin Endocrinol Metab (2007) 1.37

Targeted disruption of the heat shock transcription factor (hsf)-2 gene results in increased embryonic lethality, neuronal defects, and reduced spermatogenesis. Genesis (2003) 1.37

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1. Am J Hum Genet (2010) 1.35

Cytogenetic determinants of male fertility. Hum Reprod Update (2008) 1.34

Chromosome Y-specific DNA is transferred to the short arm of X chromosome in human XX males. Science (1986) 1.32

Evaluation of 172 candidate polymorphisms for association with oligozoospermia or azoospermia in a large cohort of men of European descent. Hum Reprod (2010) 1.32

Loss of zona pellucida binding proteins in the acrosomal matrix disrupts acrosome biogenesis and sperm morphogenesis. Mol Cell Biol (2007) 1.31

Identification of novel mutations in FOXL2 associated with premature ovarian failure. Mol Hum Reprod (2002) 1.31

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility. Nat Genet (2001) 1.31

Late onset of obesity in male androgen receptor-deficient (AR KO) mice. Biochem Biophys Res Commun (2003) 1.30

MED12 alterations in both human benign and malignant uterine soft tissue tumors. PLoS One (2012) 1.26

Haploinsufficiency of kelch-like protein homolog 10 causes infertility in male mice. Proc Natl Acad Sci U S A (2004) 1.24

Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization. Hum Mol Genet (2006) 1.23

DPY19L2 deletion as a major cause of globozoospermia. Am J Hum Genet (2011) 1.20

Transcription factor FIGLA is mutated in patients with premature ovarian failure. Am J Hum Genet (2008) 1.20

Frequent occurrence of the CFTR intron 8 (TG)n 5T allele in men with congenital bilateral absence of the vas deferens. Eur J Hum Genet (1995) 1.19

Genome-wide analysis identifies changes in histone retention and epigenetic modifications at developmental and imprinted gene loci in the sperm of infertile men. Hum Reprod (2011) 1.18

Genetic aspects of premature ovarian failure: a literature review. Arch Gynecol Obstet (2010) 1.16

Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia. J Androl (2009) 1.12

Association of variants in the fat mass and obesity associated (FTO) gene with polycystic ovary syndrome. Diabetologia (2008) 1.12

Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. Fertil Steril (2011) 1.11

Mutations in SRY and SOX9: testis-determining genes. Hum Mutat (1997) 1.10

Mechanisms and consequences of paternally-transmitted chromosomal abnormalities. Birth Defects Res C Embryo Today (2005) 1.09

Human spermatogenic failure purges deleterious mutation load from the autosomes and both sex chromosomes, including the gene DMRT1. PLoS Genet (2013) 1.08

The testis anion transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse. Hum Mol Genet (2007) 1.07

The recent genetics of hypogonadotrophic hypogonadism - novel insights and new questions. Clin Endocrinol (Oxf) (2009) 1.06

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. Hum Mol Genet (2012) 1.05

Essential requirement for both hsf1 and hsf2 transcriptional activity in spermatogenesis and male fertility. Genesis (2004) 1.05

Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations. Mol Hum Reprod (2003) 1.04

Ovarian function in girls and women with GALT-deficiency galactosemia. J Inherit Metab Dis (2010) 1.04

Aberrations in pseudoautosomal regions (PARs) found in infertile men with Y-chromosome microdeletions. J Clin Endocrinol Metab (2011) 1.00

Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet A (2012) 1.00

Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene. J Clin Invest (1992) 0.98

Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A (2008) 0.98

Mutations in SOHLH1 gene associate with nonobstructive azoospermia. Hum Mutat (2010) 0.98

The genetics of male infertility. Semin Reprod Med (2009) 0.98

Genetics of the polycystic ovary syndrome. Mol Cell Endocrinol (2012) 0.97

Mutations in the protamine locus: association with spermatogenic failure? Mol Hum Reprod (2009) 0.96

Mutations in the protamine 1 gene associated with male infertility. Mol Hum Reprod (2007) 0.96

Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res (2005) 0.95

Tat1, a novel sulfate transporter specifically expressed in human male germ cells and potentially linked to rhogtpase signaling. J Biol Chem (2001) 0.95

Pregnancy and inherited metabolic disorders: maternal and fetal complications. Ann Clin Biochem (2002) 0.94

Analyses of GDF9 mutation in 100 Chinese women with premature ovarian failure. Fertil Steril (2007) 0.94

Replication of association of a novel insulin receptor gene polymorphism with polycystic ovary syndrome. Fertil Steril (2011) 0.94

The genetic basis of female reproductive disorders: etiology and clinical testing. Mol Cell Endocrinol (2013) 0.94

High resolution X chromosome-specific array-CGH detects new CNVs in infertile males. PLoS One (2012) 0.94

A dominant-negative mutation of HSF2 associated with idiopathic azoospermia. Hum Genet (2012) 0.92