Results 1 to 10 of about 2,192 (198)

Globozoospermia: A Case Report and Systematic Review of Literature [PDF]

The World Journal of Men's Health, 2023
Purpose: Globozoospermia is a genetic syndrome characterized by the presence of round-headed spermatozoa and infertility due to the inability of these spermatozoa to fertilize the oocyte.
Andrea Crafa, Rosita Angela Condorelli, Sandro La Vignera, Aldo Eugenio Calogero, Rossella Cannarella   +4 more
doaj   +7 more sources

A loss-of-function variant in SSFA2 causes male infertility with globozoospermia and failed oocyte activation [PDF]

Reproductive Biology and Endocrinology, 2022
Globozoospermia (OMIM: 102530) is a rare type of teratozoospermia ( A; p.R1224Q) in the patient. This variant significantly reduced the protein expression of SSFA2.
Gelin Huang, Xueguang Zhang, Guanping Yao, Lin Huang, Sixian Wu, Xiaoliang Li, Juncen Guo, Yuting Wen, Yan Wang, Lijun Shang, Na Li, Wenming Xu   +11 more
doaj   +5 more sources

Atypical structure of the nuclear membrane, distribution of nuclear pores and lamin B1 in spermatozoa of patients with complete and partial globozoospermia [PDF]

Frontiers in Genetics
Globozoospermia is a form of male infertility characterized by spermatozoa with spherical heads lacking acrosomes. The aim of this study was to evaluate ultrastructural and molecular defects in different types of globozoospermia.
Elizaveta Bragina, Elizaveta Bragina, Svetlana Kurchashova, Marina Suhomlinova, Tatiana Gasanova, Svetlana Ermolaeva, Tatyana Sorokina, Eva Kirs, Evgeniy Arifulin, Olga Solovova, Oxana Ryzhkova, Sabina Khayat, Marina Andreeva, Vyacheslav Chernykh, Vyacheslav Chernykh   +14 more
doaj   +3 more sources

Whole exome sequencing identifies a new DPY19L2 variant c.1232_1233insA in Tunisian infertile patient with globozoospermia

Middle East Fertility Society Journal
Background Globozoospermia is a rare male infertility disorder characterized by the presence in the ejaculate of round-headed sperm cells lacking an acrosome, a crucial structure for fertilization.
Wiem Ayed, Nicolas Thierry-Mieg, Wajh Hammami, Meriem Ben Khalifa, Sonia Mnallah, Hanène Eloumi, Amel Zhioua, Anis Chaker, Fethi Zhioua, Pierre F. Ray, Ahlem Amouri   +10 more
doaj   +3 more sources

Immunofluorescence and High-Resolution Microscopy Reveal New Insights in Human Globozoospermia. [PDF]

Int J Mol Sci, 2022
Globozoospermia is a rare and severe type of teratozoospermia characterized by the presence of round-headed, acrosomeless spermatozoa with cytoskeleton defects.
Sáez-Espinosa P, Robles-Gómez L, Ortega-López L, Aizpurua J, Gómez-Torres MJ.   +4 more
europepmc   +4 more sources

Successful Fertilization in a Case of Globozoospermia Through Assisted Oocyte Activation With Calcium Ionophores: A Case Report. [PDF]

Cureus
Globozoospermia is a rare sperm morphological abnormality characterized by a lack of acrosomes and post-acrosomal sheaths, defects in the cytoskeleton around the nucleus, and separated nuclear membranes.
Thapa P, Bawaskar PA, Badge A, Pareek C, Kalbande A.   +4 more
europepmc   +2 more sources

Golgi pH elevation due to loss of V-ATPase subunit V0a2 function correlates with tissue-specific glycosylation changes and globozoospermia. [PDF]

Cell Mol Life Sci
Loss-of-function variants in ATP6V0A2, encoding the trans Golgi V-ATPase subunit V0a2, cause wrinkly skin syndrome (WSS), a connective tissue disorder with glycosylation defects and aberrant cortical neuron migration.
Kopp J, Jahn D, Vogt G, Psoma A, Ratto E, Morelle W, Stelzer N, Hausser I, Hoffmann A, de Los Santos MR, Koch LA, Fischer-Zirnsak B, Thiel C, Palm W, Meierhofer D, van den Bogaart G, Foulquier F, Meinhardt A, Kornak U.   +18 more
europepmc   +2 more sources

Identification of a novel deletion mutation in DPY19L2 from an infertile patient with globozoospermia: a case report

Molecular Cytogenetics, 2020
Background Male infertility is an increasing medical concern worldwide. In most cases, genetic factors are considered as the main cause of the disease.
You-zhu Li, Rong-feng Wu, Xing-shen Zhu, Wen-sheng Liu, Yuan-yuan Ye, Zhong-xian Lu, Na Li   +6 more
doaj   +2 more sources

Homozygous deletion of the DPY19L2 gene as a major genetic cause of globozoospermia: a case report from Senegal

Egyptian Journal of Medical Human Genetics
Background Globozoospermia is a rare but serious teratozoospermia, characterised by ejaculates consisting of entirely of round-headed spermatozoa without acrosomes or, in the case of partial globozoospermia, containing a variable proportion (20 to 90 ...
Thierno Abdoulaye Diallo, Abdou Diop, Boubacar Faye, Babacar Ndiaye, Mama Sy, Libasse Niang, Micheline Misrahi, Rena Derwiche, Chantal Mahou, Natacha Gaitch, Brigitte Martinez, Florence Hourriez, Thierry Bienvenu, Abdoulaye Seck   +13 more
doaj   +2 more sources

Healthy birth in a case of total globozoospermia after intracytoplasmic sperm injection and assisted oocyte activation. [PDF]

Rom J Morphol Embryol, 2022
Globozoospermia is a rare (incidence
Porumb IG, Coricovac AM, Raica II, Zărnescu O, Didilescu AC.   +4 more
europepmc   +2 more sources