نتایج جستجو برای: dpy19l2 gene

تعداد نتایج: 1141386  

2017
Yoshitaka Fujihara Asami Oji Tamara Larasati Kanako Kojima-Kita Masahito Ikawa

A recent genetic analysis of infertile globozoospermic patients identified causative mutations in three genes: a protein interacting with C kinase 1 (PICK1), dpy 19-like 2 (DPY19L2), and spermatogenesis associated 16 (SPATA16). Although mouse models have clarified the physiological functions of Pick1 and Dpy19l2 during spermatogenesis, Spata16 remains to be determined. Globozoospermic patients ...

2016
Pierre F. Ray Charles Coutton Christophe Arnoult

We have read with a great interest the excellent article by Pasch et al. (2015) which describes the role of Sun4 in sperm head formation and fertility. The authors have used a Sun4 knockout (Sun4) mouse model to study the function of Sun4 in spermatogenesis. They observed that homozygous Sun4 males are infertile and present a globozoospermia-like phenotype. Further, they demonstrate that Sun4 i...

2013
Charles Coutton Farid Abada Thomas Karaouzene Damien Sanlaville Véronique Satre Joël Lunardi Pierre-Simon Jouk Christophe Arnoult Nicolas Thierry-Mieg Pierre F. Ray

We demonstrated previously that 75% of infertile men with round, acrosomeless spermatozoa (globozoospermia) had a homozygous 200-Kb deletion removing the totality of DPY19L2. We showed that this deletion occurred by Non-Allelic Homologous Recombination (NAHR) between two homologous 28-Kb Low Copy Repeats (LCRs) located on each side of the gene. The accepted NAHR model predicts that inter-chroma...

2016
Shuai Liu Xiao Qun Liu Hai Yan Huang Zhang Quan Gao Xiang Gai Zhang

The successful outcome of intracytoplasmic sperm injection (ICSI) with round-headed spermatozoa (globozoospermia) and ionomycin assisted activation oocytes is reported. A 30-year-old man with 100% globozoospermia underwent ICSI treatment. Real-time Polymerase Chain Reaction (PCR) detection indicates that the patient was DPY19L2 homozygous deletion. Nine metaphase II oocytes were injected with r...

Journal: :The American Journal of Human Genetics 2011

2015

There is an error in the third author’s name. The correct surname for the third author is: Abi Nahed. The correct given name is: Roland. The correct citation is: Yassine S, Escoffier J, Abi Nahed R, Pierre V, Karaouzene T, Ray PF, et al. (2015) Dynamics of Sun5 Localization during Spermatogenesis in Wild Type and Dpy19l2 Knock-Out Mice Indicates That Sun5 Is Not Involved in Acrosome Attachment ...

Arnoult Ch Ray PF

Background: We are convinced that better infertility treatment will only be achieved with a better under understanding of the molecular mechanisms specific to each patient. To that effect we want to indentify genes involved in male infertility. Materials and Methods: We screened cohorts of infertile men to identify the cause of their infertility. Results: Our team has identified and caracterize...

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