Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
about
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general populationReport of a successful ongoing pregnancy as a result of IMSI with assisted oocyte activation.DPY19L2 deletion as a major cause of globozoospermiaA recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formationSingle nucleotide polymorphisms in the SEPTIN12 gene may be associated with azoospermia by meiotic arrest in Japanese menUnderstanding fertilization through intracytoplasmic sperm injection (ICSI)Reproductive outcome in globozoospermic men: update and prospectsFAM170B, a novel acrosomal protein involved in fertilization in miceSpata22, a novel vertebrate-specific gene, is required for meiotic progress in mouse germ cellsRapid visualisation of microarray copy number data for the detection of structural variations linked to a disease phenotypeThe "omics" of human male infertility: integrating big data in a systems biology approach.Male infertility caused by spermiogenic defects: lessons from gene knockouts.Complete globozoospermia associated with PLCζ deficiency treated with calcium ionophore and ICSI results in pregnancyKnobbed acrosome defect is associated with a region containing the genes STK17b and HECW2 on porcine chromosome 15.The power of mouse genetics to study spermatogenesis.Array comparative genomic hybridization in male infertility.Comprehensive 5-year study of cytogenetic aberrations in 668 infertile menGenetic susceptibility to male infertility: news from genome-wide association studies.Genetic aspects of monomorphic teratozoospermia: a reviewA successful healthy childbirth in a case of total globozoospermia with oocyte activation by calcium ionophore.Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.Lack of association of KATNAL1 gene sequence variants and azoospermia in humansThe Wilms tumor gene, Wt1, is critical for mouse spermatogenesis via regulation of sertoli cell polarity and is associated with non-obstructive azoospermia in humans.Mutations of the aurora kinase C gene causing macrozoospermia are the most frequent genetic cause of male infertility in Algerian men.Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.Dpy19l2-deficient globozoospermic sperm display altered genome packaging and DNA damage that compromises the initiation of embryo development.Comparative testicular transcriptome of wild type and globozoospermic Dpy19l2 knock out miceFailure of acrosome formation and globozoospermia in the wobbler mouse, a Vps54 spontaneous recessive mutant.Single nucleotide polymorphism in the UBR2 gene may be a genetic risk factor for Japanese patients with azoospermia by meiotic arrest.Genetic dissection of a key reproductive barrier between nascent species of house miceMale infertility and its causes in human.Association of mutations in the zona pellucida binding protein 1 (ZPBP1) gene with abnormal sperm head morphology in infertile men.The ICSI procedure from past to future: a systematic review of the more controversial aspects.The genetics of human infertility by functional interrogation of SNPs in mice.Macrozoospermia: screening for the homozygous c.144delC mutation in AURKC gene in infertile men and estimation of its heterozygosity frequency in the Tunisian populationStrategies to improve fertilisation rates with assisted conception: a systematic review.Genome-scale case-control analysis of CD4+ T-cell DNA methylation in juvenile idiopathic arthritis reveals potential targets involved in disease.Intracytoplasmic Sperm Injection Fertilization Rate Does Not Depend on the Proportion of Round-headed Sperm, Small-acrosomal Sperm, or Morphologically Normal Sperm in Patients with Partial GlobozoospermiaMajor spliceosome defects cause male infertility and are associated with nonobstructive azoospermia in humans.Mendelian genetics of male infertility
P2860
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P2860
Homozygous mutation in SPATA16 is associated with male infertility in human globozoospermia
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh
2007年學術文章
@zh-hant
name
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@ast
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@en
type
label
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@ast
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@en
prefLabel
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@ast
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@en
P2093
P2860
P356
P1476
Homozygous mutation in SPATA16 ...... ility in human globozoospermia
@en
P2093
Anika H D M Dam
Anne-Sophie Jaeger
Astrid R Oudakker
Celine Moutou
Hans van Bokhoven
Isabelle Koscinski
Jan A M Kremer
Nicolas Charlet
Stephane Viville
P2860
P304
P356
10.1086/521314
P407
P577
2007-08-21T00:00:00Z