PMC Links for Gene (Select 2138) - PMC

Abdoulaye Yalcouyé, Oumou Traoré, Salimata Diarra, Isabelle Schrauwen, Kevin Esoh, Magda Kamila Kadlubowska, Thashi Bharadwaj, Samuel Mawuli Adadey, Mohamed Kéita, Cheick O. Guinto, Suzanne M. Leal, Guida Landouré, Ambroise Wonkam

Mol Genet Genomic Med. 2022 Jul; 10(7): e1995. Published online 2022 Jun 14. doi: 10.1002/mgg3.1995

PMCID:: PMC9266589

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Select item 86461654.

Genome-Wide association between EYA1 and Aspirin-induced peptic ulceration

Stephane Bourgeois, Daniel F. Carr, Crispin O. Musumba, Alexander Penrose, Celestine Esume, Andrew P. Morris, Andrea L. Jorgensen, J. Eunice Zhang, D. Mark Pritchard, Panos Deloukas, Munir Pirmohamed

EBioMedicine. 2021 Dec; 74: 103728. Published online 2021 Dec 2. doi: 10.1016/j.ebiom.2021.103728

PMCID:: PMC8646165

Article PDF–1013K

Select item 82868205.

The Eyes Absent proteins in development and in developmental disorders

Upendra Kumar Soni, Kaushik Roychoudhury, Rashmi S. Hegde

Biochem Soc Trans. 2021 Jun 30; 49(3): 1397–1408. Published online 2021 Jul 1. doi: 10.1042/BST20201302

PMCID:: PMC8286820

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A mutation of EYA1 gene in a Chinese Han family with Branchio-Oto syndrome

Rui Han, Yan Xia, Zhijuan Liu, Shuang Wu, Erdengqieqieke Ye, Ling Duan, Jianbing Ding, Xiaolin La

Medicine (Baltimore) 2021 Jun 25; 100(25): e24691. Published online 2021 Jun 25. doi: 10.1097/MD.0000000000024691

PMCID:: PMC8238333

Article PDF–963K

Select item 80696457.

The Eyes Absent Proteins: Unusual HAD Family Tyrosine Phosphatases

Kaushik Roychoudhury, Rashmi S. Hegde

Int J Mol Sci. 2021 Apr; 22(8): 3925. Published online 2021 Apr 10. doi: 10.3390/ijms22083925

PMCID:: PMC8069645

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Select item 60818478.

A novel mutation in EYA1 in a Chinese family with Branchio-oto-renal syndrome

Yan-gong Wang, Shu-ping Sun, Yi-ling Qiu, Qing-he Xing, Wei Lu

BMC Med Genet. 2018; 19: 139. Published online 2018 Aug 7. doi: 10.1186/s12881-018-0653-2

PMCID:: PMC6081847

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Select item 58496249.

A de novo and novel mutation in the EYA1 gene in a Chinese child with branchio-oto-renal syndrome

Guomin Li, Qian Shen, Li Sun, Haimei Liu, Yu An, Hong Xu

Intractable Rare Dis Res. 2018 Feb; 7(1): 42–45. doi: 10.5582/irdr.2017.01075

PMCID:: PMC5849624

Article PDF–418K

Select item 551656910.

Novel EYA1 Variants Causing Branchio-Oto-Renal Syndrome

Kyle D. Klingbeil, Christopher M. Greenland, Selcuk Arslan, Arianne Llamos Paneque, Hakan Gurkan, Selma Demir Ulusal, Reza Maroofian, Andrea Carrera-Gonzalez, Stefany Montufar-Armendariz, Rosario Paredes, Nursel Elcioglu, Ibis Menendez, Mahdiyeh Behnam, Joseph Foster, II, Shengru Guo, Sebastian Escarfuller, Filiz Basak Cengiz, Duygu Duman, Guney Bademci, Mustafa Tekin

Int J Pediatr Otorhinolaryngol. Author manuscript; available in PMC 2018 Jul 1.

Published in final edited form as: Int J Pediatr Otorhinolaryngol. 2017 Jul; 98: 59–63. Published online 2017 Apr 26. doi: 10.1016/j.ijporl.2017.04.037

PMCID:: PMC5516569

Article PDF–222K

Select item 427542811.

The PI3K/Akt signal hyperactivates Eya1 via the SUMOylation pathway

Ye Sun, Satoshi Kaneko, Xiaokun Li, Xue Li

Oncogene. Author manuscript; available in PMC 2015 Nov 7.

Published in final edited form as: Oncogene. 2015 May 7; 34(19): 2527–2537. Published online 2014 Jun 23. doi: 10.1038/onc.2014.179

PMCID:: PMC4275428

Article PDF–4.1M

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Mutational Analysis of EYA1, SIX1 and SIX5 Genes and Strategies for Management of Hearing Loss in Patients with BOR/BO Syndrome

Mee Hyun Song, Tae-Jun Kwon, Hui Ram Kim, Ju Hyun Jeon, Jeong-In Baek, Won-Sang Lee, Un-Kyung Kim, Jae Young Choi

PLoS One. 2013; 8(6): e67236. Published online 2013 Jun 28. doi: 10.1371/journal.pone.0067236

PMCID:: PMC3696009

Article PDF–2.7M

Select item 361016113.

Branchio-Oto-Renal Syndrome (BOR) associated with focal glomerulosclerosis in a patient with a novel EYA1 splice site mutation

Maddalena Gigante, Marilena d’Altilia, Eustacchio Montemurno, Sterpeta Diella, Francesca Bruno, Giuseppe S Netti, Elena Ranieri, Giovanni Stallone, Barbara Infante, Giuseppe Grandaliano, Loreto Gesualdo

BMC Nephrol. 2013; 14: 60. Published online 2013 Mar 18. doi: 10.1186/1471-2369-14-60

PMCID:: PMC3610161

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Select item 173467214.

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

S. RICKARD, M. BOXER, R. TROMPETER, M. BITNER-GLINDZICZ

J Med Genet. 2000 Aug; 37(8): 623–627. doi: 10.1136/jmg.37.8.623

PMCID:: PMC1734672

Summary PDF–176K

Select item 864268115.

The deubiquitinase OTUB1 fosters papillary thyroid carcinoma growth through EYA1 stabilization

Peiyi Xie, Qing Chao, Jiuang Mao, Yue Liu, Jiayu Fang, Jing Xie, Jing Zhen, Yongqi Ding, Bidong Fu, Yun Ke, Da Huang

J Cell Mol Med. 2021 Dec; 25(23): 10980–10989. Published online 2021 Nov 12. doi: 10.1111/jcmm.17020

PMCID:: PMC8642681

Article PDF–1.5M

Select item 850998016.

Two naturally derived small molecules disrupt the sineoculis homeobox homolog 1–eyes absent homolog 1 (SIX1–EYA1) interaction to inhibit colorectal cancer cell growth

Jing Wu, Bin Huang, Hong-Bo He, Wen-Zhu Lu, Wei-Guo Wang, Hong Liu

Chin Med J (Engl) 2021 Oct 5; 134(19): 2340–2352. Published online 2021 Sep 23. doi: 10.1097/CM9.0000000000001736

PMCID:: PMC8509980

Article PDF–1.9M

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EYA1 Phosphatase Function Is Essential To Drive Breast Cancer Cell Proliferation Through Cyclin D1

Kongming Wu, Zhaoming Li, Shaoxin Cai, Lifeng Tian, Ke Chen, Jing Wang, Junbo Hu, Ye Sun, Xue Li, Adam Ertel, Richard G. Pestell

Cancer Res. Author manuscript; available in PMC 2014 Jul 15.

Published in final edited form as: Cancer Res. 2013 Jul 15; 73(14): 4488–4499. Published online 2013 May 1. doi: 10.1158/0008-5472.CAN-12-4078

PMCID:: PMC3755745

Article PDF–2.7M

Select item 275645518.

Loss of heterozygosity at 2q37 in sporadic Wilms tumor: a putative role for miR-562

Kylie M. Drake, E Cristy Ruteshouser, Rachael Natrajan, Phyllis Harbor, Jenny Wegert, Manfred Gessler, Kathy Pritchard-Jones, Paul Grundy, Jeffrey Dome, Vicki Huff, Chris Jones, Micheala A. Aldred

Clin Cancer Res. Author manuscript; available in PMC 2010 Apr 1.

Published in final edited form as: Clin Cancer Res. 2009 Oct 1; 15(19): 5985–5992. Published online 2009 Sep 29. doi: 10.1158/1078-0432.CCR-09-1065

PMCID:: PMC2756455

Article PDF–805K

Select item 5351319.

Clusters of intragenic Alu repeats predispose the human C1 inhibitor locus to deleterious rearrangements.

D Stoppa-Lyonnet, P E Carter, T Meo, M Tosi

Proc Natl Acad Sci U S A. 1990 Feb; 87(4): 1551–1555. doi: 10.1073/pnas.87.4.1551

PMCID:: PMC53513

Summary Page Browse PDF–1.2M

Select item 877079620.

Phenotype–genotype correlation in patients with typical and atypical branchio-oto-renal syndrome

Masatsugu Masuda, Ayako Kanno, Kiyomitsu Nara, Hideki Mutai, Naoya Morisada, Kazumoto Iijima, Noriko Morimoto, Atsuko Nakano, Tomoko Sugiuchi, Yasuhide Okamoto, Sawako Masuda, Sayaka Katsunuma, Kaoru Ogawa, Tatsuo Matsunaga

Sci Rep. 2022; 12: 969. Published online 2022 Jan 19. doi: 10.1038/s41598-022-04885-w

PMCID:: PMC8770796

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