| Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia. | Genome-wide compound heterozygote analysis highlights DPY19L2 alleles in a non-consanguineous Spanish family with total globozoospermia.
López-Rodrigo O, Bossini-Castillo L, Carmona FD, Bassas L, Larriba S. | 07/30/2022 |
| Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player. | Genetic analyses of a large cohort of infertile patients with globozoospermia, DPY19L2 still the main actor, GGN confirmed as a guest player.
Celse T, Cazin C, Mietton F, Martinez G, Martinez D, Thierry-Mieg N, Septier A, Guillemain C, Beurois J, Clergeau A, Mustapha SFB, Kharouf M, Zoghmar A, Chargui A, Papaxanthos A, Dorphin B, Foliguet B, Triki C, Sifer C, Lauton D, Tachdjian G, Schuler G, Lejeune H, Puechberty J, Bessonnat J, Pasquier L, Mery L, Poulain M, Chaabouni M, Sermondade N, Cabry R, Benbouhadja S, Veau S, Frapsauce C, Mitchell V, Achard V, Satre V, Hennebicq S, Zouari R, Arnoult C, Kherraf ZE, Coutton C, Ray PF. | 02/20/2021 |
| Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia. | Deletion of dpy-19 like 2 (DPY19L2) gene is associated with total but not partial globozoospermia.
Alimohammadi F, Ebrahimi Nasab M, Rafaee A, Hashemi M, Totonchi M, Mohseni Meybodi A, Sadighi Gilani MA, Sabbaghian M. | 02/20/2021 |
| [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia]. | [Detection of DPY19L2 gene mutation in 2 cases of globozoospermia].
Luo T, Zhi HJ, Wu QY, Li WW, Zhu PR, Jiang WJ, Zhao GG, Wang F, Xia XY, Yao Q. | 01/30/2021 |
| Here, we performed a screening of DPY19L2 variants in a cohort of Chinese globozoospermic patients and found that five of nine patients carried DPY19L2 deletions and the other four patients contained novel DPY19L2 point mutations | Novel DPY19L2 variants in globozoospermic patients and the overcoming this male infertility.
Shang YL, Zhu FX, Yan J, Chen L, Tang WH, Xiao S, Mo WK, Zhang ZG, He XJ, Qiao J, Cao YX, Li W., Free PMC Article | 04/11/2020 |
| Low PLCZ1 expression is associated with globozoospermia with DPY19L2 deletion. | Expression of sperm PLCζ and clinical outcomes of ICSI-AOA in men affected by globozoospermia due to DPY19L2 deletion.
Tavalaee M, Nomikos M, Lai FA, Nasr-Esfahani MH. | 11/10/2018 |
| provide new evidence, on the one hand, for a severe lack of maturation of the NL, and on the other hand, for dramatic modifications in the location of chromatin-related NL partners in DPY19L2-deleted spermatozoa | Abnormal retention of nuclear lamina and disorganization of chromatin-related proteins in spermatozoa from DPY19L2-deleted globozoospermic patients.
Paci M, Elkhatib R, Longepied G, Hennebicq S, Bessonat J, Courbière B, Bourgeois P, Levy N, Mitchell MJ, Metzler-Guillemain C. | 08/4/2018 |
| Patients presenting with a monomorphic teratozoospermia such as globozoospermia or macrospermia with more than 85% of the spermatozoa presenting this specific abnormality have been analyzed permitting to identify several key genes for spermatogenesis such as AURKC and DPY19L2. | Genetic abnormalities leading to qualitative defects of sperm morphology or function.
Ray PF, Toure A, Metzler-Guillemain C, Mitchell MJ, Arnoult C, Coutton C. | 07/1/2017 |
| Among Tunisian patients with globozoospermia, 8 DPY19L2 haplotypes were found. 61.1% were homozygous for a DPY19L2 deletion. A new splice-site mutation at the junction exon-intron 16 [c.1579_1580+4delAGGTAAinsTCAT] was found in 1 patient. | Identification of a new DPY19L2 mutation and a better definition of DPY19L2 deletion breakpoints leading to globozoospermia.
Ghédir H, Ibala-Romdhane S, Okutman O, Viot G, Saad A, Viville S. | 10/8/2016 |
| The DPY19L2 mutations are the major cause of globozoospermia. | DPY19L2 gene mutations are a major cause of globozoospermia: identification of three novel point mutations.
Zhu F, Gong F, Lin G, Lu G. | 12/14/2013 |
| Analysis of public databases at the DPY19L2 locus paradoxically revealed that, in the general population, duplications were approximately three times as frequent as deletions. | Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population.
Coutton C, Abada F, Karaouzene T, Sanlaville D, Satre V, Lunardi J, Jouk PS, Arnoult C, Thierry-Mieg N, Ray PF., Free PMC Article | 06/29/2013 |
| DPY19L2 is the major gene responsible for globozoospermia and enlarges the spectrum of possible mutations in the gene. | Globozoospermia is mainly due to DPY19L2 deletion via non-allelic homologous recombination involving two recombination hotspots.
Elinati E, Kuentz P, Redin C, Jaber S, Vanden Meerschaut F, Makarian J, Koscinski I, Nasr-Esfahani MH, Demirol A, Gurgan T, Louanjli N, Iqbal N, Bisharah M, Pigeon FC, Gourabi H, De Briel D, Brugnon F, Gitlin SA, Grillo JM, Ghaedi K, Deemeh MR, Tanhaei S, Modarres P, Heindryckx B, Benkhalifa M, Nikiforaki D, Oehninger SC, De Sutter P, Muller J, Viville S. | 02/9/2013 |
| identification of DPY19L2 deletions and point mutations in European patients shows that globozoospemia caused by a molecular defect of DPY19L2 can be expected in individuals from any ethnic background | MLPA and sequence analysis of DPY19L2 reveals point mutations causing globozoospermia.
Coutton C, Zouari R, Abada F, Ben Khelifa M, Merdassi G, Triki C, Escalier D, Hesters L, Mitchell V, Levy R, Sermondade N, Boitrelle F, Vialard F, Satre V, Hennebicq S, Jouk PS, Arnoult C, Lunardi J, Ray PF. | 12/8/2012 |
| Patients with globozoospermia have a homozygous deletion of DPY19L2. | A recurrent deletion of DPY19L2 causes infertility in man by blocking sperm head elongation and acrosome formation.
Harbuz R, Zouari R, Pierre V, Ben Khelifa M, Kharouf M, Coutton C, Merdassi G, Abada F, Escoffier J, Nikas Y, Vialard F, Koscinski I, Triki C, Sermondade N, Schweitzer T, Zhioua A, Zhioua F, Latrous H, Halouani L, Ouafi M, Makni M, Jouk PS, Sèle B, Hennebicq S, Satre V, Viville S, Arnoult C, Lunardi J, Ray PF., Free PMC Article | 05/21/2011 |
| The relocation of the gene DPY19L2 within a set of low copy repeats. | Duplication and relocation of the functional DPY19L2 gene within low copy repeats.
Carson AR, Cheung J, Scherer SW., Free PMC Article | 01/21/2010 |