Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots. - Wikidata - wikimedia - TriplyDB

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

http://www.wikidata.org/entity/Q34278415

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Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population Are there optimal numbers of oocytes, spermatozoa and embryos in assisted reproduction?Genetic aspects of monomorphic teratozoospermia: a review Exome sequencing reveals a nonsense mutation in TEX15 causing spermatogenic failure in a Turkish family.12q14 Microdeletions: Additional Case Series with Confirmation of a Macrocephaly Region Subcellular localization of phospholipase Cζ in human sperm and its absence in DPY19L2-deficient sperm are consistent with its role in oocyte activation.The genetics of microdeletion and microduplication syndromes: an update.Endoplasmic Reticulum-Localized Transmembrane Protein Dpy19L1 Is Required for Neurite Outgrowth.A new mutation identified in SPATA16 in two globozoospermic patients.Biogenesis of sperm acrosome is regulated by pre-mRNA alternative splicing of Acrbp in the mouse.Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping.NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.The Genetics of Infertility: Current Status of the Field.Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.Sperm morphology: assessment, pathophysiology, clinical relevance, and state of the art in 2017.Validation and application of a novel integrated genetic screening method to a cohort of 1,112 men with idiopathic azoospermia or severe oligozoospermia.Comprehensive investigation in patients affected by sperm macrocephaly and globozoospermia.Evaluation of sperm protamine deficiency and apoptosis in infertile men with idiopathic teratozoospermia.A Homozygous Deletion of the DPY19l2 Gene is a Cause of Globozoospermia in Men from the Republic of Macedonia Distinct C-mannosylation of netrin receptor thrombospondin type 1 repeats by mammalian DPY19L1 and DPY19L3.Ultrastructural Morphology of Sperm from Human Globozoospermia.Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models.Expression profile of PLCζ, PAWP, and TR-KIT in association with fertilization potential, embryo development, and pregnancy outcomes in globozoospermic candidates for intra-cytoplasmic sperm injection and artificial oocyte activation.Correlation between sperm DNA fragmentation index and CMA3 positive spermatozoa in globozoospermic patients.Nuclear envelope remodelling during human spermiogenesis involves somatic B-type lamins and a spermatid-specific B3 lamin isoform.Facilitating and inhibiting factors related to treatment adherence in women with polycystic ovary syndrome: A qualitative study.The involvement of the nuclear lamina in human and rodent spermiogenesis: a systematic review.AU040320 deficiency leads to disruption of acrosome biogenesis and infertility in homozygous mutant mice.

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Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.

http://www.wikidata.org/entity/Q34278415

description

2012 nî lūn-bûn

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2012 թուականի Մայիսին հրատարակուած գիտական յօդուած

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2012 թվականի մայիսին հրատարակված գիտական հոդված

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2012年の論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年論文

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2012年论文

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name

Globozoospermia is mainly due ...... ng two recombination hotspots.

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Globozoospermia is mainly due ...... ng two recombination hotspots.

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Globozoospermia is mainly due ...... ng two recombination hotspots.

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type

label

Globozoospermia is mainly due ...... ng two recombination hotspots.

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Globozoospermia is mainly due ...... ng two recombination hotspots.

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Globozoospermia is mainly due ...... ng two recombination hotspots.

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prefLabel

Globozoospermia is mainly due ...... ng two recombination hotspots.

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Globozoospermia is mainly due ...... ng two recombination hotspots.

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Globozoospermia is mainly due ...... ng two recombination hotspots.

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Human Molecular Genetics

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Globozoospermia is mainly due ...... ing two recombination hotspots

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Aygul Demirol

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Björn Heindryckx

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Claire Redin

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Dimitra Nikiforaki

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Dominique De Briel

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Frauke Vanden Meerschaut

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Frédérique Carré Pigeon

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H Gourabi

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Isabelle Koscinski

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3695-3702

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10.1093/HMG/DDS200

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16

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21

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Mohammad-Hossein Nasr-Esfahani

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2012-05-31T00:00:00Z

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225088307

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