Results 41 to 50 of about 2,192 (198)

Human Globozoospermia-Related Gene Spata16 Is Required for Sperm Formation Revealed by CRISPR/Cas9-Mediated Mouse Models [PDF]

International Journal of Molecular Sciences, 2017
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
Yoshitaka Fujihara, Asami Oji, Tamara Larasati, Kanako Kojima-Kita, M. Ikawa   +4 more
semanticscholar   +3 more sources

Globozoospermia dhe rëndësia klinike citomorfologjike

Optime
Analiza citomorfologjike e spermës është një pjesë thelbësore per diagnostikimin e infertilitetin mashkullor. Përveç vlerësimit të morfologjisë së spermës, analiza e spermes (spermiograma)duhet të përfshijë vlerësimin cilësor të elementeve qelizore të ...
Entela Shkëmbi, Evin Dani
semanticscholar   +2 more sources

Globozoospermia and lack of acrosome formation in GM130-deficient mice [PDF]

Cell Death & Disease, 2017
Globozoospermia is a common reproductive disorder that causes male infertility in humans, and the malformation or loss of acrosomes is the prominent feature of this disease.
F. Han, Chunyi Liu, Lianjun Zhang, Yang Zhou, Yan Qin, Yaqing Wang, Min Chen, Shuguang Duo, Xiuhong Cui, Shilai Bao, F. Gao   +10 more
semanticscholar   +3 more sources

Homozygous Mutation in SPATA16 Is Associated with Male Infertility in Human Globozoospermia [PDF]

The American Journal of Human Genetics, 2007
Globozoospermia is a rare (incidence
Dam, A.H.D.M., Koscinski, I., Kremer, J.A.M., Kremer, J.A.M., Kremer, J.A.M., Moutou, C., Jaeger, A.S., Oudakker, A.R., Tournaye, H., Charlet, N., Lagier-Tourenne, C., van Bokhoven, J.H.L.M., Viville, S.   +12 more
openaire   +5 more sources

Novel sperm selection device on the basis of microfluidics improves usable blastocyst rates, embryo morphology, and morphokinetic patterns: sibling cohort prospective study [PDF]

F&S Reports
Objective: To assess the performance of a novel microfluidic sperm selection device, SwimCount Harvester (SCH), compared with the Swim-up (SU) method, analyzing both sperm quality and the laboratory’s key performance indicators.
Fernando Meseguer, M.Sc., Laura Carrión-Sisternas, M.Sc., Ana del Arco, M.Sc., Rocío Rivera-Egea, Ph.D., Carmen Vidal, Ph.D., José Alejandro Remohí, Ph.D., Marcos Meseguer, Ph.D.   +6 more
doaj   +2 more sources

Recommendations for Human Sperm Morphology Assessment in 2025: An Expert Review From the French BLEFCO Group. [PDF]

Andrology
ABSTRACT Background Numerous publications have questioned the lack of analytical reliability and clinical relevance of sperm morphology assessment for infertility workup and before use of assisted reproductive techniques (ART). There is a huge variability in the performance and interpretation of this test.
Gatimel N, Barbotin AL, Mery L, Beauvillard D, Bendayan M, Boursier A, Boueilh T, Pereira B, Chammas J, Jacquet JC, Levy R, Pfeffer J, Pons-Rejraji H, Sanguinet P, Brugnon F.   +14 more
europepmc   +2 more sources

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

Human Genetics, 2020
International audienceGlobozoospermia is a rare phenotype of primary male infertility inducing the production of round-headed spermatozoa without acrosome. Anomalies of DPY19L2 account for 50-70% of all cases and the entire deletion of the gene is by far
T. Celse, Caroline Cazin, F. Mietton, G. Martinez, D. Martinez, Nicolas Thierry-Mieg, A. Septier, C. Guillemain, J. Beurois, Antoine Clergeau, Selima Fourati Ben Mustapha, M. Kharouf, Abdelali Zoghmar, A. Chargui, A. Papaxanthos, B. Dorphin, B. Foliguet, C. Triki, C. Sifer, D. Lauton, G. Tachdjian, G. Schuler, H. Lejeune, J. Puechberty, J. Bessonnat, L. Pasquier, L. Mery, M. Poulain, M. Châabouni, N. Sermondade, R. Cabry, Sebti Benbouhadja, S. Veau, C. Frapsauce, V. Mitchell, V. Achard, V. Satre, S. Hennebicq, R. Zouari, C. Arnoult, Z. Kherraf, C. Coutton, P. Ray   +42 more
semanticscholar   +3 more sources

Sperm parameters, protamine deficiency, and apoptosis in total globozoospermia

Iranian Journal of Reproductive Medicine, 2015
Background: Globozoospermia is a severe form of teratozoospermia (incidence < 0.1%) in infertile men that is characterized by round headed sperm and acrosomeless in semen.
Jalal Ghasemzadeh, Ali Reza Talebi, Mohammad Ali Khalili, Farzaneh Fesahat, Iman Halvaei, Ali Nabi, Sareh Ashourzadeh   +6 more
doaj   +1 more source

Assessment of DPY19L2 Deletion in Familial and Non-Familial Individuals with Globozoospermia and DPY19L2 Genotyping [PDF]

International Journal of Fertility and Sterility, 2016
Background Globozoospermia is a rare syndrome with an incidence of less than 0.1% among infertile men. Researchers have recently identified a large deletion, about 200 kbp, encompassing the whole length of DPY19L2 or mutations in SPATA16 and PICK1 genes ...
Parastoo Modarres, Somayeh Tanhaei, Marziyeh Tavalaee, Kamran Ghaedi, Mohammad Reza Deemeh   +4 more
doaj   +1 more source

Innovative all-in-one exome sequencing strategy for diagnostic genetic testing in male infertility: Validation and 10-month experience. [PDF]

Andrology
Abstract Background Current guidelines indicate that patients with extreme oligozoospermia or azoospermia should be tested for chromosomal imbalances, azoospermia factor (AZF) deletions and/or CFTR variants. For other sperm abnormalities, no genetic diagnostics are recommended.
Oud MS, de Leeuw N, Smeets DFCM, Ramos L, van der Heijden GW, Timmermans RGJ, van de Vorst M, Hofste T, Kempers MJE, Stokman MF, D'Hauwers KWM, Faas BHW, Westra D.   +12 more
europepmc   +2 more sources