Gene polymorphisms/mutations relevant to abnormal spermatogenesis (Q37138703)

18 August 2017

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title

Gene polymorphisms/mutations relevant to abnormal spermatogenesis (English)

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18 August 2017

Francesca Nuti

1

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18 August 2017

Csilla Krausz

series ordinal

2

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18 August 2017

publication date

1 April 2008

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Reproductive BioMedicine Online

18 August 2017

published in

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18 August 2017

volume

16

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18 August 2017

issue

4

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18 August 2017

page(s)

504-513

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Environmental estrogens and sperm function

18 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

CAG repeat length in the androgen receptor gene affects the risk of male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Lack of the T54A polymorphism of the DAZL gene in infertile Italian patients.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

DAZL polymorphisms and susceptibility to spermatogenic failure: an example of remarkable ethnic differences

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Homozygous methylenetetrahydrofolate reductase C677T mutation and male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxrb interval of the mouse Y chromosome of the Dffry gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Effect of testosterone and estradiol in a man with aromatase deficiency

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

C677T methylenetetrahydrofolate reductase polymorphism interferes with the effects of folic acid and zinc sulfate on sperm concentration

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Male infertility and androgen receptor gene mutations: clinical features and identification of seven novel mutations

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Genetic Abnormalities among Severely Oligospermic Men Who Are Candidates for Intracytoplasmic Sperm Injection

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Clinical review 100: Evaluation and treatment of the infertile couple

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Estrogen receptor gene polymorphisms and the genetics of osteoporosis: a HuGE review.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The gr/gr deletion(s): a new genetic test in male infertility?

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The androgen receptor gene mutations database (ARDB): 2004 update

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Estrogen receptor α promoter polymorphism: stronger estrogen action is coupled with lower sperm count

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

An SNP in protamine 1: a possible genetic cause of male infertility?

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Y chromosome and male infertility: update, 2006.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Genetic risk factors in male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Natural transmission of USP9Y gene mutations: a new perspective on the role of AZFa genes in male fertility.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The Clinical Significance of the POLG Gene Polymorphism in Male Infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The Y chromosome and male fertility and infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Association of oestrogen receptor alpha polymorphisms and androgen receptor CAG trinucleotide repeats with male infertility: a study in 109 Greek infertile men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Polymorphisms of the human PUMILIO2 gene and male sterility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Gonadoblastoma, testicular and prostate cancers, and the TSPY gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Premature translation of protamine 1 mRNA causes precocious nuclear condensation and arrests spermatid differentiation in mice

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Mutation analysis of the BOULE gene in men with non-obstructive azoospermia: identification of a novel polymorphic variant in the black population

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Partial duplication at AZFc on the Y chromosome is a risk factor for impaired spermatogenesis in Han Chinese in Taiwan

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Genomic and nongenomic effects of estrogens: molecular mechanisms of action and clinical implications for male reproduction

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Functional in vitro characterisation of the androgen receptor GGN polymorphism

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Dysmetabolic syndrome in a man with a novel mutation of the aromatase gene: effects of testosterone, alendronate, and estradiol treatment

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Mutations of SYCP3 are rare in infertile Spanish men with meiotic arrest

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Proteomic identification of human sperm proteins

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Genetic dissection of mammalian fertility pathways

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Sex Chromosome Genetics '99. Male infertility and the Y chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Azoospermia in patients heterozygous for a mutation in SYCP3

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Aromatase deficiency in male and female siblings caused by a novel mutation and the physiological role of estrogens

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The human Y chromosome: a masculine chromosome

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Estrogen and spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Spermatozoal RNA profiles of normal fertile men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Novel mutations in testis-specific ubiquitin protease 26 gene may cause male infertility and hypogonadism

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

MTHFR C677T polymorphism associates with unexplained infertile male factors

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Success and failure in human spermatogenesis as revealed by teratozoospermic RNAs.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Phenotypic heterogeneity of mutations in androgen receptor gene

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

CAG repeat length in androgen-receptor gene and reproductive variables in fertile and infertile men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Mutations in the protamine 1 gene associated with male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Haplotypes, mutations and male fertility: the story of the testis-specific ubiquitin protease USP26

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

High mutation rates have driven extensive structural polymorphism among human Y chromosomes

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Polymorphism for a 1.6-Mb deletion of the human Y chromosome persists through balance between recurrent mutation and haploid selection

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Translation of the synaptonemal complex component Sycp3 is enhanced in vivo by the germ cell specific regulator Dazl.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Male infertility: no evidence of involvement of androgen receptor gene among Indian men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Estrogen resistance caused by a mutation in the estrogen-receptor gene in a man

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Alterations of the USP26 gene in Caucasian men

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The role of the testis-specific gene hTAF7L in the aetiology of male infertility.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

SYCP3 mutations are uncommon in patients with azoospermia.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Possible role of USP26 in patients with severely impaired spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The methylenetethrahydrofolate reductase (MTHFR) C677T polymorphism and male infertility in Italy

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Estrogen receptor alpha gene polymorphism is associated with idiopathic azoospermia

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Association of DAZL haplotypes with spermatogenic failure in infertile men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Association of a single-nucleotide polymorphism of the deleted-in-azoospermia-like gene with susceptibility to spermatogenic failure

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Genetic insights into human isolated gonadotropin deficiency.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

No association of the A260G and A386G DAZL single nucleotide polymorphisms with male infertility in a Caucasian population

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Novel missense mutations of the Deleted-in-AZoospermia-Like (DAZL) gene in infertile women and men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Long Polyglutamine Tracts in the Androgen Receptor Are Associated with Reduced Trans-Activation, Impaired Sperm Production, and Male Infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

TSPY gene copy number as a potential new risk factor for male infertility.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Inverse correlation between sperm concentration and number of androgen receptor CAG repeats in normal men.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

X chromosomes, retrogenes and their role in male reproduction

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

An abundance of X-linked genes expressed in spermatogonia

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Mutations in the human BOULE gene are not a major cause of impaired spermatogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Mutations in the chromosome pairing gene FKBP6 are not a common cause of non-obstructive azoospermia

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Non-invasive genetic diagnosis of male infertility using spermatozoal RNA: KLHL10 mutations in oligozoospermic patients impair homodimerization

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Putative biological functions of the DAZ family

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The human autosomal gene DAZLA: testis specificity and a candidate for male infertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

Association of cryptorchidism with a specific haplotype of the estrogen receptor alpha gene: implication for the susceptibility to estrogenic environmental endocrine disruptors.

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

The murine SCP3 gene is required for synaptonemal complex assembly, chromosome synapsis, and male fertility

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

X-chromosome inactivation patterns and androgen receptor functionality influence phenotype and social characteristics as well as pharmacogenetics of testosterone therapy in Klinefelter patients

1 reference

https://api.crossref.org/works/10.1016%2FS1472-6483%2810%2960457-9

7 January 2021

10.1016/S1472-6483(10)60457-9

Identifiers

DOI

1 reference

release_prmytv5lgrhujbu7wsn6bnuafq

18 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/prmytv5lgrhujbu7wsn6bnuafq

24 November 2022

mapped directly with Wikidata item

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