Article

Novel DPY19L2 mutation locus causes globozoospermia

2024-03-21

Abstract excerpt

Spermatozoa acrosome abnormalities are a rare and severe form of male infertility caused by structural abnormalities of the sperm acrosome or acrosomal enzyme abnormalities, which usually present as round-headed spermatozoa with loss of sperm insemination. Variation in the DPY19L2 gene is highly correlated with known cases of conchoidal spermatidosis, and there is extensive evidence that heterozygous variants caus...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 5770d642-ea0d-54a3-ab98-41ed3f1daead
DOI: 10.21203/rs.3.rs-4105020/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel DPY19L2 mutation locus causes globozoospermiaDOI 10.21203/rs.3.rs-4105020/v1Read

Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertilitySemantic proximity Read

Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.Semantic proximity Read

Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.Semantic proximity Read

Exome sequencing reveals novel causes as well as new candidate genes for human globozoospermiaSemantic proximity Read

A Recurrent Deletion of DPY19L2 Causes Infertility in Man by Blocking Sperm Head Elongation and Acrosome FormationSemantic proximity Read

DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.Semantic proximity Read

MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.Semantic proximity Read

[Mutation analysis and treatment of a case with globozoospermia].Semantic proximity Read

Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.Semantic proximity Read

SYCP2 Translocation-Mediated Dysregulation and Frameshift Variants Cause Human Male Infertility.Semantic proximity Read

[Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].Semantic proximity Read

DPY19L2 Deletion as a Major Cause of GlobozoospermiaSemantic proximity Read