PMC Articles for MedGen (Select 862891) - PMC

Select item 96497341.

Immune and spermatogenesis-related loci are involved in the development of extreme patterns of male infertility

Miriam Cerván-Martín, Frank Tüttelmann, Alexandra M. Lopes, Lara Bossini-Castillo, Rocío Rivera-Egea, Nicolás Garrido, Saturnino Lujan, Gema Romeu, Samuel Santos-Ribeiro, José A. Castilla, M. Carmen Gonzalvo, Ana Clavero, Vicente Maldonado, F. Javier Vicente, Sara González-Muñoz, Andrea Guzmán-Jiménez, Miguel Burgos, Rafael Jiménez, Alberto Pacheco, Cristina González, Susana Gómez, David Amorós, Jesus Aguilar, Fernando Quintana, Carlos Calhaz-Jorge, Ana Aguiar, Joaquim Nunes, Sandra Sousa, Isabel Pereira, Maria Graça Pinto, Sónia Correia, Josvany Sánchez-Curbelo, Olga López-Rodrigo, Javier Martín, Iris Pereira-Caetano, Patricia I. Marques, Filipa Carvalho, Alberto Barros, Jörg Gromoll, Lluís Bassas, Susana Seixas, João Gonçalves, Sara Larriba, Sabine Kliesch, Rogelio J. Palomino-Morales, F. David Carmona

Commun Biol. 2022; 5: 1220. Published online 2022 Nov 10. doi: 10.1038/s42003-022-04192-0

PMCID:: PMC9649734

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Select item 93887932.

Large-scale analyses of the X chromosome in 2,354 infertile men discover recurrently affected genes associated with spermatogenic failure

Antoni Riera-Escamilla, Matthias Vockel, Liina Nagirnaja, Miguel J. Xavier, Albert Carbonell, Daniel Moreno-Mendoza, Marc Pybus, Ginevra Farnetani, Viktoria Rosta, Francesca Cioppi, Corinna Friedrich, Manon S. Oud, Godfried W. van der Heijden, Armin Soave, Thorsten Diemer, Elisabet Ars, Josvany Sánchez-Curbelo, Sabine Kliesch, Moira K. O’Bryan, Eduard Ruiz-Castañe, GEMINI Consortium, Fernando Azorín, Joris A. Veltman, Kenneth I. Aston, Donald F. Conrad, Frank Tüttelmann, Csilla Krausz

Am J Hum Genet. 2022 Aug 4; 109(8): 1458–1471. Published online 2022 Jul 8. doi: 10.1016/j.ajhg.2022.06.007

PMCID:: PMC9388793

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Select item 92266873.

From azoospermia to macrozoospermia, a phenotypic continuum due to mutations in the ZMYND15 gene

Zine-Eddine Kherraf, Caroline Cazin, Florence Lestrade, Jana Muronova, Charles Coutton, Christophe Arnoult, Nicolas Thierry-Mieg, Pierre F Ray

Asian J Androl. 2022 May-Jun; 24(3): 243–247. Published online 2022 Jan 11. doi: 10.4103/aja202194

PMCID:: PMC9226687

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Select item 89060234.

Detection of partial and/or complete Y chromosome microdeletions of azoospermia factor a (AZFa) sub‐region in infertile Iraqi patients with azoospermia and severe oligozoospermia

Mushtak T. S. Al‐Ouqaili, Sahar K. Al‐Ani, Rehab Alaany, Mohammed N. Al‐Qaisi

J Clin Lab Anal. 2022 Mar; 36(3): e24272. Published online 2022 Feb 5. doi: 10.1002/jcla.24272

PMCID:: PMC8906023

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Select item 78648515.

The X chromosome and male infertility

Matthias Vockel, Antoni Riera-Escamilla, Frank Tüttelmann, Csilla Krausz

Hum Genet. 2021; 140(1): 203–215. Published online 2019 Dec 24. doi: 10.1007/s00439-019-02101-w

PMCID:: PMC7864851

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Select item 78318276.

Next-generation sequencing: toward an increase in the diagnostic yield in patients with apparently idiopathic spermatogenic failure

Rossella Cannarella, Rosita A Condorelli, Stefano Paolacci, Federica Barbagallo, Giulia Guerri, Matteo Bertelli, Sandro La Vignera, Aldo E Calogero

Asian J Androl. 2021 Jan-Feb; 23(1): 24–29. Published online 2020 Jul 10. doi: 10.4103/aja.aja_25_20

PMCID:: PMC7831827

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Select item 77148787.

Partial-AZFc deletions in Chilean men with primary spermatogenic impairment: gene dosage and Y-chromosome haplogroups

María Cecilia Lardone, Victoria Ortega, Eliana Ortiz, Martha Flórez, Antonio Piottante, Mauricio Ebensperger, Sandra Flores, Patricio Pezo, Michael Orellana, Mauricio Moraga, Andrea Castro

J Assist Reprod Genet. 2020 Dec; 37(12): 3109–3119. Published online 2020 Oct 9. doi: 10.1007/s10815-020-01957-6

PMCID:: PMC7714878

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Select item 70529868.

Basonuclin 1 deficiency causes testicular premature aging: BNC1 cooperates with TAF7L to regulate spermatogenesis

Jing-Yi Li, Yi-Feng Liu, Hai-Yan Xu, Jun-Yu Zhang, Ping-Ping Lv, Miao-E Liu, Yan-Yun Ying, Ye-Qing Qian, Kun Li, Cheng Li, Yun Huang, Gu-Feng Xu, Guo-Lian Ding, Yu-Chan Mao, Chen-Ming Xu, Xin-Mei Liu, Jian-Zhong Sheng, Dan Zhang, He-Feng Huang

J Mol Cell Biol. 2020 Jan; 12(1): 71–83. Published online 2019 Nov 4. doi: 10.1093/jmcb/mjz035

PMCID:: PMC7052986

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Select item 59726099.

Exosomal microRNAs in seminal plasma are markers of the origin of azoospermia and can predict the presence of sperm in testicular tissue

Maria Barceló, Ana Mata, Lluís Bassas, Sara Larriba

Hum Reprod. 2018 Jun; 33(6): 1087–1098. Published online 2018 Apr 4. doi: 10.1093/humrep/dey072

PMCID:: PMC5972609

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Select item 435009110.

Excess of Rare Variants in Genes that are Key Epigenetic Regulators of Spermatogenesis in the Patients with Non-Obstructive Azoospermia

Zesong Li, Yi Huang, Honggang Li, Jingchu Hu, Xiao Liu, Tao Jiang, Guangqing Sun, Aifa Tang, Xiaojuan Sun, Weiping Qian, Yong Zeng, Jun Xie, Wei Zhao, Yu Xu, Tingting He, Chengliang Dong, Qunlong Liu, Lisha Mou, Jingxiao Lu, Zheguang Lin, Song Wu, Shengjie Gao, Guangwu Guo, Qiang Feng, Yingrui Li, Xiuqing Zhang, Jun Wang, Huanming Yang, Jian Wang, Chengliang Xiong, Zhiming Cai, Yaoting Gui

Sci Rep. 2015; 5: 8785. Published online 2015 Mar 5. doi: 10.1038/srep08785

PMCID:: PMC4350091

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Select item 405160611.

X Chromosome-Linked CNVs in Male Infertility: Discovery of Overall Duplication Load and Recurrent, Patient-Specific Gains with Potential Clinical Relevance

Chiara Chianese, Adam C. Gunning, Claudia Giachini, Fabrice Daguin, Giancarlo Balercia, Elisabet Ars, Deborah Lo Giacco, Eduard Ruiz-Castañé, Gianni Forti, Csilla Krausz

PLoS One. 2014; 9(6): e97746. Published online 2014 Jun 10. doi: 10.1371/journal.pone.0097746

PMCID:: PMC4051606

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Select item 373515912.

Genetic causes of spermatogenic failure

Annelien Massart, Willy Lissens, Herman Tournaye, Katrien Stouffs

Asian J Androl. 2012 Jan; 14(1): 40–48. Published online 2011 Dec 5. doi: 10.1038/aja.2011.67

PMCID:: PMC3735159

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Select item 363255513.

Characterization of Prdm9 in Equids and Sterility in Mules

Cynthia C. Steiner, Oliver A. Ryder

PLoS One. 2013; 8(4): e61746. Published online 2013 Apr 22. doi: 10.1371/journal.pone.0061746

PMCID:: PMC3632555

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Select item 2218414.

A human DAZ transgene confers partial rescue of the mouse Dazl null phenotype

R. Slee, B. Grimes, R. M. Speed, M. Taggart, S. M. Maguire, A. Ross, N. I. McGill, P. T. K. Saunders, H. J. Cooke

Proc Natl Acad Sci U S A. 1999 Jul 6; 96(14): 8040–8045. doi: 10.1073/pnas.96.14.8040

PMCID:: PMC22184

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