(Q37826198)

23 August 2017

1 reference

title

The search for SNPs, CNVs, and epigenetic variants associated with the complex disease of male infertility (English)

1 reference

single-nucleotide polymorphism

23 August 2017

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21208142

21 November 2024

2

Kenneth I. Aston

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21208142

21 November 2024

author name string

Douglas T. Carrell

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A21208142

21 November 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=21208142

21 November 2024

publication date

6 January 2011

1 reference

Systems Biology in Reproductive Medicine

23 August 2017

published in

1 reference

23 August 2017

volume

57

1 reference

23 August 2017

issue

1-2

1 reference

23 August 2017

page(s)

17-26

1 reference

Genome instability: a mechanistic view of its causes and consequences

23 August 2017

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21 January 2018

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Sperm protamine 1/protamine 2 ratios are related to in vitro fertilization pregnancy rates and predictive of fertilization ability

21 January 2018

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Endonuclease-sensitive regions of human spermatozoal chromatin are highly enriched in promoter and CTCF binding sequences

21 January 2018

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The RsaI polymorphism in the estrogen receptor-beta gene is associated with male infertility

21 January 2018

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Genome-wide study of single-nucleotide polymorphisms associated with azoospermia and severe oligozoospermia

21 January 2018

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Increased oxidative damage of sperm and seminal plasma in men with idiopathic infertility is higher in patients with glutathione S-transferase Mu-1 null genotype.

21 January 2018

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The protamine family of sperm nuclear proteins

21 January 2018

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A bivalent chromatin structure marks key developmental genes in embryonic stem cells

21 January 2018

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Specific epigenetic alterations of IGF2-H19 locus in spermatozoa from infertile men

21 January 2018

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Single nucleotide polymorphisms in succinate dehydrogenase subunits and citrate synthase genes: association results for impaired spermatogenesis

21 January 2018

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Altered protamine expression and diminished spermatogenesis: what is the link?

21 January 2018

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The human sperm epigenome and its potential role in embryonic development

21 January 2018

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Identification of polymorphisms in the Hrb, GOPC, and Csnk2a2 genes in two men with globozoospermia.

21 January 2018

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Screening the SPO11 and EIF5A2 genes in a population of infertile men.

21 January 2018

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Identification of polymorphisms and balancing selection in the male infertility candidate gene, ornithine decarboxylase antizyme 3.

21 January 2018

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Sequencing and haplotype analysis of the activator of CREM in the testis (ACT) gene in populations of fertile and infertile males

21 January 2018

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Uncovering the roles of rare variants in common disease through whole-genome sequencing

21 January 2018

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A vision for the future of genomics research

21 January 2018

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CFTR mutations and polymorphisms in male infertility

21 January 2018

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Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia

21 January 2018

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Genotype to phenotype: a complex problem

21 January 2018

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Association of the MDR1 (ABCB1) gene 3435C>T polymorphism with male infertility.

21 January 2018

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Perturbation of genomic imprinting in oligozoospermia

21 January 2018

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Human genetic variation and its contribution to complex traits

21 January 2018

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Analysis of the meiotic recombination gene REC8 for sequence variations in a population with severe male factor infertility.

21 January 2018

1 reference

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Increased Prevalance of the -211 T allele of follicle stimulating hormone (FSH) beta subunit promoter polymorphism and lower serum FSH in infertile men.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

Sequence alterations in the YBX2 gene are associated with male factor infertility

21 January 2018

1 reference

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Widespread epigenetic abnormalities suggest a broad DNA methylation erasure defect in abnormal human sperm

21 January 2018

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Developmental expression and function of Bmp4 in spermatogenesis and in maintaining epididymal integrity

21 January 2018

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Single-nucleotide polymorphisms of the PRDM9 (MEISETZ) gene in patients with nonobstructive azoospermia

21 January 2018

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Polymorphisms in the human cysteine-rich secretory protein 2 (CRISP2) gene in Australian men.

21 January 2018

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Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility

21 January 2018

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ERCC1 and ERCC2 polymorphisms and risk of idiopathic azoospermia in a Chinese population

21 January 2018

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DNA methylation errors at imprinted loci after assisted conception originate in the parental sperm

21 January 2018

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Identification of potentially damaging amino acid substitutions leading to human male infertility

21 January 2018

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21 January 2018

Klinefelter's syndrome

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Clinical phenotype and infertility treatment in a male with hypogonadotropic hypogonadism due to mutations Ala129Asp/Arg262Gln of the gonadotropin-releasing hormone receptor

21 January 2018

1 reference

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Functional polymorphism in H2BFWT-5'UTR is associated with susceptibility to male infertility.

21 January 2018

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The HapMap and genome-wide association studies in diagnosis and therapy

21 January 2018

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Finding the missing heritability of complex diseases

21 January 2018

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New strategies and emerging technologies for massively parallel sequencing: applications in medical research

21 January 2018

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Genomic imprinting in disruptive spermatogenesis

21 January 2018

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A homozygous mutation in the luteinizing hormone receptor causes partial Leydig cell hypoplasia: correlation between receptor activity and phenotype

21 January 2018

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Cytogenetic determinants of male fertility

21 January 2018

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The biology of infertility: research advances and clinical challenges

21 January 2018

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Paternal DNA packaging in spermatozoa: more than the sum of its parts? DNA, histones, protamines and epigenetics

21 January 2018

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Single-nucleotide polymorphisms and mutation analyses of the TNP1 and TNP2 genes of fertile and infertile human male populations

21 January 2018

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Azoospermia in patients heterozygous for a mutation in SYCP3

21 January 2018

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A single nucleotide polymorphism in SPATA17 may be a genetic risk factor for Japanese patients with meiotic arrest

21 January 2018

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Paternal effects on early embryogenesis

21 January 2018

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Increased frequency of mutations in DNA from infertile men with meiotic arrest

21 January 2018

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Gene polymorphisms/mutations relevant to abnormal spermatogenesis

21 January 2018

1 reference

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Protamines and male infertility.

21 January 2018

1 reference

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Finding common susceptibility variants for complex disease: past, present and future

21 January 2018

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Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA–binding protein gene

21 January 2018

1 reference

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Analysis of genetic inheritance in a family quartet by whole-genome sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

Polymorphic alleles of the human MEI1 gene are associated with human azoospermia by meiotic arrest.

21 January 2018

1 reference

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A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

Polymorphisms of the luteinizing hormone/chorionic gonadotropin receptor gene: association with maldescended testes and male infertility

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

Mutation C677T in the methylenetetrahydrofolate reductase gene is associated with male infertility in an Indian population

21 January 2018

1 reference

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Both protamine-1 to protamine-2 mRNA ratio and Bcl2 mRNA content in testicular spermatids and ejaculated spermatozoa discriminate between fertile and infertile men.

21 January 2018

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Possible role of USP26 in patients with severely impaired spermatogenesis

21 January 2018

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Mutation screening and association study of the TSSK4 Gene in Chinese infertile men with impaired spermatogenesis.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

c.822+126T>G/C: a novel triallelic polymorphism of the TSSK6 gene associated with spermatogenic impairment in a Chinese population

21 January 2018

1 reference

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Novel variants in UBE2B gene and idiopathic male infertility

21 January 2018

1 reference

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The use of transgenic mouse models in the study of male infertility

21 January 2018

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High frequency targeting of genes to specific sites in the mammalian genome

21 January 2018

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Tumor necrosis factor-alpha -308 polymorphism in infertile men with altered sperm production or motility.

21 January 2018

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Variants in Deleted in AZoospermia-Like (DAZL) are correlated with reproductive parameters in men and women

21 January 2018

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Gene polymorphisms and male infertility--a meta-analysis and literature review

21 January 2018

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Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene.

21 January 2018

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Combinations of genetic changes in the human cAMP-responsive element modulator gene: a clue towards understanding some forms of male infertility?

21 January 2018

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Genomic copy number variation, human health, and disease

21 January 2018

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The genetics of male infertility

21 January 2018

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FAS and FASLG polymorphisms and susceptibility to idiopathic azoospermia or severe oligozoospermia.

21 January 2018

1 reference

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Association of male infertility with Pro185Ala polymorphism in the aryl hydrocarbon receptor repressor gene: implication for the susceptibility to dioxins

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

Influence of polymorphism of glutathione S-transferase T1 on Chinese infertile patients with varicocele

21 January 2018

1 reference

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Mutation screening of the FKBP6 gene and its association study with spermatogenic impairment in idiopathic infertile men.

21 January 2018

1 reference

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The common variant N372H in BRCA2 gene may be associated with idiopathic male infertility with azoospermia or severe oligozoospermia.

21 January 2018

1 reference

https://api.crossref.org/works/10.3109%2F19396368.2010.521615

Role of INSL3 and LGR8 in cryptorchidism and testicular functions

21 January 2018

1 reference

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Aberrant DNA methylation of imprinted loci in sperm from oligospermic patients

21 January 2018

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Good Semen Quality and Life Expectancy: A Cohort Study of 43,277 Men

21 January 2018

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Single nucleotide polymorphisms of the gonadotrophin-regulated testicular helicase (GRTH) gene may be associated with the human spermatogenesis impairment.

21 January 2018

1

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Nature Structural & Molecular Biology

21 November 2024

16

author name string

Brykczynska U.

publication date

2010

1 reference

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Microsatellite instability

21 November 2024

27

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DNA mismatch repair gene hMLH3 variants in meiotic arrest

21 November 2024

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Increased frequencies of cytochrome P4501A1 polymorphisms in infertile men.

21 November 2024

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Multilocus analyses of estrogen-related genes reveal involvement of the ESR1 gene in male infertility and the polygenic nature of the pathology

21 November 2024

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Association of genetic markers within the KIT and KITLG genes with human male infertility

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Genetic Engineering and Biotechnology News

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30

Glaser V.

2010

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Association of XRCC1 gene polymorphisms with idiopathic azoospermia in a Chinese population

21 November 2024

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Distinctive chromatin in human sperm packages genes for embryo development

21 November 2024

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Polymorphisms in cell death pathway genes are associated with altered sperm apoptosis and poor semen quality

21 November 2024

51

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NANOS3 gene mutations in men with isolated sterility phenotype

21 November 2024

56

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Association study of four polymorphisms in three folate-related enzyme genes with non-obstructive male infertility

21 November 2024

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Microsatellite instability and defects in mismatch repair proteins: a new aetiology for Sertoli cell-only syndrome

21 November 2024

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Abnormal methylation of imprinted genes in human sperm is associated with oligozoospermia

21 November 2024

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The contribution of genetic variations of aryl hydrocarbon receptor pathway genes to male factor infertility

21 November 2024

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Third-generation sequencing fireworks at Marco Island

21 November 2024

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Association between the apolipoprotein B signal peptide gene insertion/deletion polymorphism and male infertility

21 November 2024

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Tandem duplication and copy number polymorphism of the SRY gene in patients with sex chromosome anomalies and males exposed to natural background radiation

21 November 2024

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Association of molecular variants of luteinizing hormone with male infertility

21 November 2024

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Single nucleotide polymorphism analysis of the follicle-stimulating hormone (FSH) receptor in Japanese with male infertility: identification of codon combination with heterozygous variations of the two discrete FSH receptor gene

21 November 2024

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Single nucleotide polymorphisms in the protamine-1 and -2 genes of fertile and infertile human male populations

21 November 2024

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Increased risk of high-grade prostate cancer among infertile men.

21 November 2024

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The role of MSH5 C85T and MLH3 C2531T polymorphisms in the risk of male infertility with azoospermia or severe oligozoospermia

21 November 2024

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Preliminary analysis of the G178A polymorphism of insulin-like factor 3 in male infertility

21 November 2024

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The association of 4a4b polymorphism of endothelial nitric oxide synthase (eNOS) gene with the sperm morphology in Korean infertile men

21 November 2024

118

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21 November 2024

Identifiers

1 reference

23 August 2017

1 reference