Published in Eur J Hum Genet on July 21, 2010
The Concise Guide to PHARMACOLOGY 2013/14: ion channels. Br J Pharmacol (2013) 3.03
The control of male fertility by spermatozoan ion channels. Annu Rev Physiol (2011) 1.74
The CatSper channel: a polymodal chemosensor in human sperm. EMBO J (2012) 1.40
Ion channels, phosphorylation and mammalian sperm capacitation. Asian J Androl (2011) 1.21
A novel gene required for male fertility and functional CATSPER channel formation in spermatozoa. Nat Commun (2011) 1.16
Disruption of the principal, progesterone-activated sperm Ca2+ channel in a CatSper2-deficient infertile patient. Proc Natl Acad Sci U S A (2013) 1.05
Rediscovering sperm ion channels with the patch-clamp technique. Mol Hum Reprod (2011) 1.03
ATP-activated P2X2 current in mouse spermatozoa. Proc Natl Acad Sci U S A (2011) 0.91
SLO3 auxiliary subunit LRRC52 controls gating of sperm KSPER currents and is critical for normal fertility. Proc Natl Acad Sci U S A (2015) 0.90
Direct action of endocrine disrupting chemicals on human sperm. EMBO Rep (2014) 0.88
Sperm patch-clamp. Methods Enzymol (2013) 0.85
The CatSper channel controls chemosensation in sea urchin sperm. EMBO J (2014) 0.83
A clinical appraisal of the genetic basis in unexplained male infertility. J Hum Reprod Sci (2013) 0.80
Specific loss of CatSper function is sufficient to compromise fertilizing capacity of human spermatozoa. Hum Reprod (2015) 0.79
Major regulatory mechanisms involved in sperm motility. Asian J Androl (2015) 0.78
Male infertility in mice lacking the store-operated Ca(2+) channel Orai1. Cell Calcium (2016) 0.77
Trigonellae Semen Enhances Sperm Motility and the Expression of the Cation Sperm Channel Proteins in Mouse Testes. Evid Based Complement Alternat Med (2015) 0.75
Analysis of the correlation of CATSPER single nucleotide polymorphisms (SNPs) with idiopathic asthenospermia. J Assist Reprod Genet (2015) 0.75
The control of male fertility by spermatid-specific factors: searching for contraceptive targets from spermatozoon's head to tail. Cell Death Dis (2016) 0.75
High-throughput RNA sequencing reveals structural differences of orthologous brain-expressed genes between western lowland gorillas and humans. J Comp Neurol (2015) 0.75
Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review. Arch Iran Med (2016) 0.75
Pathogenesis and management of male infertility. Lancet (1994) 5.31
The biology of infertility: research advances and clinical challenges. Nat Med (2008) 4.62
A sperm ion channel required for sperm motility and male fertility. Nature (2001) 4.43
Acid extrusion from human spermatozoa is mediated by flagellar voltage-gated proton channel. Cell (2010) 2.73
Whole-cell patch-clamp measurements of spermatozoa reveal an alkaline-activated Ca2+ channel. Nature (2006) 2.63
All four CatSper ion channel proteins are required for male fertility and sperm cell hyperactivated motility. Proc Natl Acad Sci U S A (2007) 2.59
The epidemiology of infertility in Aberdeen. BMJ (1990) 2.44
A voltage-gated ion channel expressed specifically in spermatozoa. Proc Natl Acad Sci U S A (2001) 2.37
CatSper1 required for evoked Ca2+ entry and control of flagellar function in sperm. Proc Natl Acad Sci U S A (2003) 2.34
Microdeletions in the Y chromosome of infertile men. N Engl J Med (1997) 2.18
Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat (2008) 2.03
Mutations in a new gene encoding a protein of the hair bundle cause non-syndromic deafness at the DFNB16 locus. Nat Genet (2001) 1.68
Evolution of pregnancies and initial follow-up of newborns delivered after intracytoplasmic sperm injection. JAMA (1996) 1.67
CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet (2003) 1.54
Identification of human and mouse CatSper3 and CatSper4 genes: characterisation of a common interaction domain and evidence for expression in testis. Reprod Biol Endocrinol (2003) 1.46
Catsper3 and Catsper4 are essential for sperm hyperactivated motility and male fertility in the mouse. Biol Reprod (2007) 1.43
Identical phenotypes of CatSper1 and CatSper2 null sperm. J Biol Chem (2005) 1.40
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome. J Med Genet (2006) 1.36
Potential impact of hormonal male contraception: cross-cultural implications for development of novel preparations. Hum Reprod (2000) 1.31
Report on optimal evaluation of the infertile male. Fertil Steril (2006) 1.30
A multi-centre cohort study of the physical health of 5-year-old children conceived after intracytoplasmic sperm injection, in vitro fertilization and natural conception. Hum Reprod (2004) 1.28
Ion channels that control fertility in mammalian spermatozoa. Int J Dev Biol (2008) 1.23
Dysplasia of the fibrous sheath: an ultrastructural defect of human spermatozoa associated with sperm immotility and primary sterility. Fertil Steril (1987) 1.21
Human male infertility caused by mutations in the CATSPER1 channel protein. Am J Hum Genet (2009) 1.19
The genetic basis of infertility. Reproduction (2003) 1.17
Molecular genetic analysis of two human sperm fibrous sheath proteins, AKAP4 and AKAP3, in men with dysplasia of the fibrous sheath. J Androl (2001) 1.09
CatSper gene expression in postnatal development of mouse testis and in subfertile men with deficient sperm motility. Hum Reprod (2004) 1.09
Hopes for male contraception. Lancet (2005) 1.08
Seven years of intracytoplasmic sperm injection and follow-up of 1987 subsequent children. Hum Reprod (1999) 1.04
Mutations in dynein genes in patients affected by isolated non-syndromic asthenozoospermia. Hum Reprod (2008) 1.03
Pharmacological targeting of native CatSper channels reveals a required role in maintenance of sperm hyperactivation. PLoS One (2009) 0.97
Expression of CatSper family transcripts in the mouse testis during post-natal development and human ejaculated spermatozoa: relationship to sperm motility. Mol Hum Reprod (2007) 0.97
Sperm ion channels: molecular targets for the next generation of contraceptive medicines? J Androl (2005) 0.90
Pregnancy following discontinuation of a calcium channel blocker in the male partner. Hum Reprod (1995) 0.90
[Clinical, endocrinological, histological and chromosomal investigations on Klinefelter's syndrome]. Andrologia (1979) 0.84
Inhibition of human sperm function and mouse fertilization in vitro by an antibody against cation channel of sperm 1: the contraceptive potential of its transmembrane domains and pore region. Fertil Steril (2008) 0.84
Spermatogenesis in Klinefelter's syndrome. Reproduccion (1980) 0.83
Deafness locus DFNB16 is located on chromosome 15q13-q21 within a 5-cM interval flanked by markers D15S994 and D15S132. Am J Hum Genet (1999) 0.83
Genetic considerations related to intracytoplasmic sperm injection (ICSI). Fertil Steril (2008) 0.82
Autoantibodies to ion channels at the neuromuscular junction. Autoimmun Rev (2003) 0.82
Immunocontraceptive vaccines for human use. J Reprod Immunol (2002) 0.79
Sperm antibodies and infertility. Fertil Steril (1982) 0.78
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Genome-wide association analysis identifies 20 loci that influence adult height. Nat Genet (2008) 16.92
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci U S A (2005) 13.44
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: a genome-wide association study. Gastroenterology (2010) 7.86
FoldIndex: a simple tool to predict whether a given protein sequence is intrinsically unfolded. Bioinformatics (2005) 5.44
Meta-analysis of 28,141 individuals identifies common variants within five new loci that influence uric acid concentrations. PLoS Genet (2009) 4.97
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance. Nat Genet (2012) 4.37
LRP6 mutation in a family with early coronary disease and metabolic risk factors. Science (2007) 4.27
Comprehensive genetic testing for hereditary hearing loss using massively parallel sequencing. Proc Natl Acad Sci U S A (2010) 3.85
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics? Mutat Res (2008) 3.76
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
Membranoproliferative glomerulonephritis type II (dense deposit disease): an update. J Am Soc Nephrol (2005) 3.57
A highly significant association between a COMT haplotype and schizophrenia. Am J Hum Genet (2002) 3.52
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056. Sci Transl Med (2011) 3.46
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure. Nat Genet (2011) 3.40
Glomeruli of Dense Deposit Disease contain components of the alternative and terminal complement pathway. Kidney Int (2009) 3.12
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
C3 glomerulonephritis: clinicopathological findings, complement abnormalities, glomerular proteomic profile, treatment, and follow-up. Kidney Int (2012) 3.05
Common variants associated with plasma triglycerides and risk for coronary artery disease. Nat Genet (2013) 2.92
Eculizumab for dense deposit disease and C3 glomerulonephritis. Clin J Am Soc Nephrol (2012) 2.83
Sex-stratified genome-wide association studies including 270,000 individuals show sexual dimorphism in genetic loci for anthropometric traits. PLoS Genet (2013) 2.83
Seventy-five genetic loci influencing the human red blood cell. Nature (2012) 2.77
FTO genotype is associated with phenotypic variability of body mass index. Nature (2012) 2.77
Genetic variation near IRS1 associates with reduced adiposity and an impaired metabolic profile. Nat Genet (2011) 2.73
CUBN is a gene locus for albuminuria. J Am Soc Nephrol (2011) 2.70
GJB2 mutations and degree of hearing loss: a multicenter study. Am J Hum Genet (2005) 2.63
Membranoproliferative glomerulonephritis and C3 glomerulopathy: resolving the confusion. Kidney Int (2011) 2.61
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant. Nature (2012) 2.47
Mutations in alternative pathway complement proteins in American patients with atypical hemolytic uremic syndrome. Hum Mutat (2010) 2.44
SIX1 mutations cause branchio-oto-renal syndrome by disruption of EYA1-SIX1-DNA complexes. Proc Natl Acad Sci U S A (2004) 2.41
Mendelian disorders deserve more attention. Nat Rev Genet (2006) 2.36
Thalassemia in Iran: epidemiology, prevention, and management. J Pediatr Hematol Oncol (2007) 2.29
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation. Am J Hum Genet (2008) 2.18
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. Am J Hum Genet (2007) 2.13
Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways. Nat Genet (2012) 2.12
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge. Genome Biol (2014) 1.95
Proliferative glomerulonephritis secondary to dysfunction of the alternative pathway of complement. Clin J Am Soc Nephrol (2011) 1.92
A forward genetics screen in mice identifies recessive deafness traits and reveals that pejvakin is essential for outer hair cell function. J Neurosci (2007) 1.90
Genomewide association study using a high-density single nucleotide polymorphism array and case-control design identifies a novel essential hypertension susceptibility locus in the promoter region of endothelial NO synthase. Hypertension (2011) 1.89
Epigenetically deregulated microRNA-375 is involved in a positive feedback loop with estrogen receptor alpha in breast cancer cells. Cancer Res (2010) 1.82
Atypical postinfectious glomerulonephritis is associated with abnormalities in the alternative pathway of complement. Kidney Int (2012) 1.81
Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss. Hum Mol Genet (2003) 1.80
Prevalence and evolutionary origins of the del(GJB6-D13S1830) mutation in the DFNB1 locus in hearing-impaired subjects: a multicenter study. Am J Hum Genet (2003) 1.79
Branchio-oto-renal syndrome: the mutation spectrum in EYA1 and its phenotypic consequences. Hum Mutat (2004) 1.77
The zinc transporter SLC39A13/ZIP13 is required for connective tissue development; its involvement in BMP/TGF-beta signaling pathways. PLoS One (2008) 1.76
Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders. Nat Genet (2013) 1.72
FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70
Causes of alternative pathway dysregulation in dense deposit disease. Clin J Am Soc Nephrol (2012) 1.70
Association of eGFR-Related Loci Identified by GWAS with Incident CKD and ESRD. PLoS Genet (2011) 1.68
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease. Hum Mutat (2003) 1.67
Genome-wide association study identifies new HLA class II haplotypes strongly protective against narcolepsy. Nat Genet (2010) 1.67
Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene loci. Hum Genet (2006) 1.66
Advancing genetic testing for deafness with genomic technology. J Med Genet (2013) 1.66
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. Am J Hum Genet (2008) 1.65
A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders. J Med Genet (2012) 1.63
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4). Am J Hum Genet (2007) 1.59
Cloacal exstrophy in an infant with 9q34.1-qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq. Am J Med Genet A (2004) 1.59
The ciliary pocket: an endocytic membrane domain at the base of primary and motile cilia. J Cell Sci (2010) 1.58
Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation. Am J Hum Genet (2009) 1.58
Sharing data between LSDBs and central repositories. Hum Mutat (2009) 1.57
Dense deposit disease associated with monoclonal gammopathy of undetermined significance. Am J Kidney Dis (2010) 1.57
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndrome. Eur J Hum Genet (2007) 1.56
Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children. Genet Med (2010) 1.56
Intracellular stress signaling pathways activated during human islet preparation and following acute cytokine exposure. Diabetes (2004) 1.55
A modular approach for integrative analysis of large-scale gene-expression and drug-response data. Nat Biotechnol (2008) 1.55
CATSPER2, a human autosomal nonsyndromic male infertility gene. Eur J Hum Genet (2003) 1.54
Transcription factor SIX5 is mutated in patients with branchio-oto-renal syndrome. Am J Hum Genet (2007) 1.52
New treatment options for lymphangioma in infants and children. Ann Otol Rhinol Laryngol (2002) 1.50
Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus. Genet Med (2008) 1.49
Premature termination codons in PRPF31 cause retinitis pigmentosa via haploinsufficiency due to nonsense-mediated mRNA decay. J Clin Invest (2008) 1.45
Determining the cause of patchwork HBA1 and HBA2 genes: recurrent gene conversion or crossing over fixation events. Haematologica (2006) 1.45
Proteomic signatures: amino acid and oligopeptide compositions differentiate among phyla. Proteins (2004) 1.45
The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5'HS4. Blood Cells Mol Dis (2011) 1.43
Membranoproliferative glomerulonephritis secondary to monoclonal gammopathy. Clin J Am Soc Nephrol (2010) 1.42
Case of progressive dysplasia concomitant with intralesional cidofovir administration for recurrent respiratory papillomatosis. Ann Otol Rhinol Laryngol (2005) 1.41
No evidence for association between the renin-angiotensin-aldosterone system and otosclerosis in a large Belgian-Dutch population. Otol Neurotol (2009) 1.40
Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med (2009) 1.40