PMC Links for GEO Profiles (Select 25167521) - PMC

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Items: 16

Select item 93277291.

A recurrent ZP1 variant is responsible for oocyte maturation defect with degenerated oocytes in infertile females

Corinne Loeuillet, Magali Dhellemmes, Caroline Cazin, Zine‐Eddine Kherraf, Selima Fourati Ben Mustapha, Raoudha Zouari, Nicolas Thierry‐Mieg, Christophe Arnoult, Pierre F. Ray

Clin Genet. 2022 Jul; 102(1): 22–29. Published online 2022 Jun 1. doi: 10.1111/cge.14144

PMCID:: PMC9327729

Abstract Article PDF–1.3M

Select item 82669592.

A novel homozygous nonsense mutation in zona pellucida 1 (ZP1) causes human female empty follicle syndrome

Jing Wang, Xiaoyu Yang, Xueping Sun, Long Ma, Yaoxue Yin, Guoxiang He, Yuan Zhang, Jie Zhou, Lingbo Cai, Jiayin Liu, Xiang Ma

J Assist Reprod Genet. 2021 Jun; 38(6): 1459–1468. Published online 2021 Mar 5. doi: 10.1007/s10815-021-02136-x

PMCID:: PMC8266959

Abstract Article PDF–2.4M

Select item 76421443.

Novel mutations in ZP1 and ZP2 cause primary infertility due to empty follicle syndrome and abnormal zona pellucida

Geng Luo, Lixia Zhu, Zhenxing Liu, Xue Yang, Qingsong Xi, Zhou Li, Jinliang Duan, Lei Jin, Xianqin Zhang

J Assist Reprod Genet. 2020 Nov; 37(11): 2853–2860. Published online 2020 Aug 23. doi: 10.1007/s10815-020-01926-z

PMCID:: PMC7642144

Abstract Article PDF–1.0M

Select item 74923304.

Novel biallelic loss-of-function variants in ZP1 identified in an infertile female with empty follicle syndrome

Mohan Liu, Ying Shen, Xueguang Zhang, Xiang Wang, Dan Li, Yan Wang

J Assist Reprod Genet. 2020 Sep; 37(9): 2151–2157. Published online 2020 Jun 16. doi: 10.1007/s10815-020-01855-x

PMCID:: PMC7492330

Abstract Article PDF–1.0M

Select item 74127025.

Heterozygous mutations in ZP1 and ZP3 cause formation disorder of ZP and female infertility in human

Qiqi Cao, Chun Zhao, Xiaolan Zhang, Heng Zhang, Qianneng Lu, Congjing Wang, Yue Hu, Xiufeng Ling, Junqiang Zhang, Ran Huo

J Cell Mol Med. 2020 Aug; 24(15): 8557–8566. Published online 2020 Jun 22. doi: 10.1111/jcmm.15482

PMCID:: PMC7412702

Abstract Article PDF–1.2M

Select item 72312356.

Homozygous Splice Site Mutation in ZP1 Causes Familial Oocyte Maturation Defect

Özlem Okutman, Cem Demirel, Firat Tülek, Veronique Pfister, Umut Büyük, Jean Muller, Nicolas Charlet-Berguerand, Stéphane Viville

Genes (Basel) 2020 Apr; 11(4): 382. Published online 2020 Apr 1. doi: 10.3390/genes11040382

PMCID:: PMC7231235

Abstract Article PDF–1.5M

Select item 66260447.

Molecular basis of egg coat cross-linking sheds light on ZP1-associated female infertility

Kaoru Nishimura, Elisa Dioguardi, Shunsuke Nishio, Alessandra Villa, Ling Han, Tsukasa Matsuda, Luca Jovine

Nat Commun. 2019; 10: 3086. Published online 2019 Jul 12. doi: 10.1038/s41467-019-10931-5

PMCID:: PMC6626044

Abstract Article PDF–4.0M

Select item 65050108.

Novel mutation in the ZP1 gene and clinical implications

Ping Yuan, Ruiqi Li, Di Li, Lingyan Zheng, Songbang Ou, Haijing Zhao, Qingxue Zhang, Wenjun Wang

J Assist Reprod Genet. 2019 Apr; 36(4): 741–747. Published online 2019 Feb 18. doi: 10.1007/s10815-019-01404-1

PMCID:: PMC6505010

Abstract Article PDF–809K

Select item 55909479.

A Recurrent Missense Mutation in ZP3 Causes Empty Follicle Syndrome and Female Infertility

Tailai Chen, Yuehong Bian, Xiaoman Liu, Shigang Zhao, Keliang Wu, Lei Yan, Mei Li, Zhenglin Yang, Hongbin Liu, Han Zhao, Zi-Jiang Chen

Am J Hum Genet. 2017 Sep 7; 101(3): 459–465. Published online 2017 Sep 7. doi: 10.1016/j.ajhg.2017.08.001

PMCID:: PMC5590947

Abstract Article PDF–2.0M

Select item 407649210.

Mutant ZP1 in Familial Infertility

Hua-Lin Huang, Chao Lv, Ying-Chun Zhao, Wen Li, Xue-Mei He, Ping Li, Ai-Guo Sha, Xiao Tian, Christopher J. Papasian, Hong-Wen Deng, Guang-Xiu Lu, Hong-Mei Xiao

N Engl J Med. Author manuscript; available in PMC 2014 Sep 27.

Published in final edited form as: N Engl J Med. 2014 Mar 27; 370(13): 1220–1226. doi: 10.1056/NEJMoa1308851

PMCID:: PMC4076492

Abstract Article PDF–451K

Select item 317805911.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 316916712.

Risk of Meningioma and Common Variation in Genes related to Innate Immunity

Preetha Rajaraman, Alina V. Brenner, Gila Neta, Ruth Pfeiffer, Sophia S. Wang, Meredith Yeager, Gilles Thomas, Howard A. Fine, Martha S. Linet, Nathaniel Rothman, Stephen J. Chanock, Peter D. Inskip

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2011 Sep 7.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2010 May; 19(5): 1356–1361. Published online 2010 Apr 20. doi: 10.1158/1055-9965.EPI-09-1151

PMCID:: PMC3169167

Abstract Article PDF–61K

Select item 296777013.

Polymorphisms in innate immunity genes and risk of childhood leukemia

Sohee Han, Qing Lan, Ae Kyung Park, Kyoung-Mu Lee, Sue K. Park, Hyo Seop Ahn, Hee Young Shin, Hyoung Jin Kang, Hong Hoe Koo, Jong Jin Seo, Ji Eun Choi, Yoon-Ok Ahn, Stephen J. Chanock, Ho Kim, Nathaniel Rothman, Daehee Kang

Hum Immunol. Author manuscript; available in PMC 2010 Nov 2.

Published in final edited form as: Hum Immunol. 2010 Jul; 71(7): 727–730. Published online 2010 May 16. doi: 10.1016/j.humimm.2010.04.004

PMCID:: PMC2967770

Abstract Article PDF–306K

Select item 294417414.

'ZP domain' of human zona pellucida glycoprotein-1 binds to human spermatozoa and induces acrosomal exocytosis

Anasua Ganguly, Pankaj Bansal, Tripti Gupta, Satish K Gupta

Reprod Biol Endocrinol. 2010; 8: 110. Published online 2010 Sep 11. doi: 10.1186/1477-7827-8-110

PMCID:: PMC2944174

Abstract Article PDF–638K

Select item 277172315.

Common Variation in Genes Related to Innate Immunity and Risk of Adult Glioma

Preetha Rajaraman, Alina V. Brenner, Mary Ann Butler, Sophia S. Wang, Ruth M. Pfeiffer, Avima M. Ruder, Martha S. Linet, Meredith Yeager, Zhaoming Wang, Nick Orr, Howard A. Fine, Deukwoo Kwon, Gilles Thomas, Nathaniel Rothman, Peter D. Inskip, Stephen J. Chanock

Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2010 May 1.

Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2009 May; 18(5): 1651–1658. doi: 10.1158/1055-9965.EPI-08-1041