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Items: 1 to 20 of 50

1.
Comparison of vestibular function in hereditary hearing loss patients with GJB2, CDH23, and SLC26A4 variants
Keita Tsukada, Shin-ya Nishio, Yutaka Takumi, Shin-ichi Usami
Sci Rep. 2024; 14: 10596. Published online 2024 May 8. doi: 10.1038/s41598-024-61442-3
PMCID:
PMC11078969
AbstractArticlePDF–1.2M
2.
基因的复合杂合突变导致的先天性非综合征性耳聋
刘 晓宙, 陈 森, 孙 宇, 孔 维佳
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2021 Mar 5; 35(3): 229-233, 237. Chinese. doi: 10.13201/j.issn.2096-7993.2021.03.008
PMCID:
PMC10128237
AbstractArticlePDF–3.7M
3.
Methylation silencing CDH23 is a poor prognostic marker in diffuse large B-cell lymphoma
Baoping Cao, Xiaochuan Guo, Lefu Huang, Bin Wang, Weixia Wang, Dong Han, Weijing Zhang, Kaili Zhong
Aging (Albany NY) 2021 Jul 15; 13(13): 17768–17788. Published online 2021 Jul 12. doi: 10.18632/aging.203268
PMCID:
PMC8312441
AbstractArticlePDF–2.2M
4.
Cullin 1 (CUL1) Promotes Primary Ciliogenesis through the Induction of Ubiquitin-Proteasome-Dependent Dvl2 Degradation
Sun-Ok Kim, Kyoung Sang Cho, Bo Yeon Kim, Kyung Ho Lee
Int J Mol Sci. 2021 Jul; 22(14): 7572. Published online 2021 Jul 15. doi: 10.3390/ijms22147572
PMCID:
PMC8307194
AbstractArticlePDF–2.8M
5.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
6.
Novel homozygous variants in the TMC1 and CDH23 genes cause autosomal recessive nonsyndromic hearing loss
Safoura Zardadi, Ehsan Razmara, Golareh Asgaritarghi, Ehsan Jafarinia, Fatemeh Bitarafan, Sima Rayat, Navid Almadani, Saeid Morovvati, Masoud Garshasbi
Mol Genet Genomic Med. 2020 Dec; 8(12): e1550. Published online 2020 Nov 18. doi: 10.1002/mgg3.1550
PMCID:
PMC7767568
AbstractArticlePDF–1.9M
7.
High-Throughput Sequencing Identifies 3 Novel Susceptibility Genes for Hereditary Melanoma
Catarina Campos, Sofia Fragoso, Rafael Luís, Filipe Pinto, Cheila Brito, Susana Esteves, Margarida Pataco, Sidónia Santos, Patrícia Machado, João B. Vicente, Joaninha Costa Rosa, Branca M. Cavaco, Cecília Moura, Marta Pojo
Genes (Basel) 2020 Apr; 11(4): 403. Published online 2020 Apr 8. doi: 10.3390/genes11040403
PMCID:
PMC7230562
AbstractArticlePDF–2.7M
8.
The strong propensity of Cadherin‐23 for aggregation inhibits cell migration
Malay K. Sannigrahi, Cheerneni S. Srinivas, Nilesh Deokate, Sabyasachi Rakshit
Mol Oncol. 2019 May; 13(5): 1092–1109. Published online 2019 Mar 19. doi: 10.1002/1878-0261.12469
PMCID:
PMC6487693
AbstractArticlePDF–1.9M
9.
Zooming in on cadherin-23: Structural diversity and potential mechanisms of inherited deafness
Avinash Jaiganesh, Pedro De-la-Torre, Aniket A. Patel, Domenic J. Termine, Florencia Velez-Cortes, Conghui Chen, Marcos Sotomayor
Structure. Author manuscript; available in PMC 2019 Sep 4.
Published in final edited form as: Structure. 2018 Sep 4; 26(9): 1210–1225.e4. Published online 2018 Jul 19. doi: 10.1016/j.str.2018.06.003
PMCID:
PMC6375707
AbstractArticlePDF–4.0M
10.
USP45 and Spindly are part of the same complex implicated in cell migration
Claudia Conte, Eric R. Griffis, Ian Hickson, Ana B. Perez-Oliva
Sci Rep. 2018; 8: 14375. Published online 2018 Sep 26. doi: 10.1038/s41598-018-32685-8
PMCID:
PMC6158257
AbstractArticlePDF–2.3M
11.
Germline Mutations in CDH23, Encoding Cadherin-Related 23, Are Associated with Both Familial and Sporadic Pituitary Adenomas
Qilin Zhang, Cheng Peng, Jianping Song, Yichao Zhang, Jianhua Chen, Zhijian Song, Xuefei Shou, Zengyi Ma, Hong Peng, Xuemin Jian, Wenqiang He, Zhao Ye, Zhiqiang Li, Yongfei Wang, Hongying Ye, Zhaoyun Zhang, Ming Shen, Feng Tang, Hong Chen, Zhifeng Shi, Chunjui Chen, Zhengyuan Chen, Yue Shen, Ye Wang, Shaoyong Lu, Jian Zhang, Yiming Li, Shiqi Li, Ying Mao, Liangfu Zhou, Hai Yan, Yongyong Shi, Chuanxin Huang, Yao Zhao
Am J Hum Genet. 2017 May 4; 100(5): 817–823. Published online 2017 Apr 13. doi: 10.1016/j.ajhg.2017.03.011
PMCID:
PMC5420349
AbstractArticlePDF–1.8M
12.
Discovery of CDH23 as a Significant Contributor to Progressive Postlingual Sensorineural Hearing Loss in Koreans
Bong Jik Kim, Ah Reum Kim, Chung Lee, So Young Kim, Nayoung K. D. Kim, Mun Young Chang, Jihye Rhee, Mi-Hyun Park, Soo Kyung Koo, Min Young Kim, Jin Hee Han, Seung-ha Oh, Woong-Yang Park, Byung Yoon Choi
PLoS One. 2016; 11(10): e0165680. Published online 2016 Oct 28. doi: 10.1371/journal.pone.0165680
PMCID:
PMC5085094
AbstractArticlePDF–2.4M
13.
Cadherin 23-C Regulates Microtubule Networks by Modifying CAMSAP3’s Function
Satoe Takahashi, Vincent J. Mui, Samuel K. Rosenberg, Kazuaki Homma, Mary Ann Cheatham, Jing Zheng
Sci Rep. 2016; 6: 28706. Published online 2016 Jun 28. doi: 10.1038/srep28706
PMCID:
PMC4923861
AbstractArticlePDF–2.3M
14.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
AbstractArticlePDF–2.0M
15.
Relevance Rank Platform (RRP) for Functional Filtering of High Content Protein–Protein Interaction Data
Yuba Raj Pokharel, Jani Saarela, Agnieszka Szwajda, Christian Rupp, Anne Rokka, Shibendra Kumar Lal Karna, Kaisa Teittinen, Garry Corthals, Olli Kallioniemi, Krister Wennerberg, Tero Aittokallio, Jukka Westermarck
Mol Cell Proteomics. 2015 Dec; 14(12): 3274–3283. Published online 2015 Oct 23. doi: 10.1074/mcp.M115.050773
PMCID:
PMC4762622
AbstractArticlePDF–1.4M
16.
Strong founder effect of p.P240L in CDH23 in Koreans and its significant contribution to severe-to-profound nonsyndromic hearing loss in a Korean pediatric population
So Young Kim, Ah Reum Kim, Nayoung K D Kim, Min Young Kim, Eun-Hee Jeon, Bong Jik Kim, Young Eun Han, Mun Young Chang, Woong-Yang Park, Byung Yoon Choi
J Transl Med. 2015; 13: 263. Published online 2015 Aug 13. doi: 10.1186/s12967-015-0624-8
PMCID:
PMC4534105
AbstractArticlePDF–3.3M
17.
High prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss
Kunio Mizutari, Hideki Mutai, Kazunori Namba, Yuko Miyanaga, Atsuko Nakano, Yukiko Arimoto, Sawako Masuda, Noriko Morimoto, Hirokazu Sakamoto, Kimitaka Kaga, Tatsuo Matsunaga
Orphanet J Rare Dis. 2015; 10: 60. Published online 2015 May 13. doi: 10.1186/s13023-015-0276-z
PMCID:
PMC4451718
AbstractArticlePDF–879K
18.
Genome-wide association study of kidney function decline in individuals of European descent
Mathias Gorski, Adrienne Tin, Maija Garnaas, Gearoid M. McMahon, Audrey Y. Chu, Bamidele O. Tayo, Cristian Pattaro, Alexander Teumer, Daniel I. Chasman, John Chalmers, Pavel Hamet, Johanne Tremblay, Marc Woodward, Thor Aspelund, Gudny Eiriksdottir, Vilmundur Gudnason, Tammara B. Harris, Lenore J. Launer, Albert V. Smith, Braxton D. Mitchell, Jeffrey R. O'Connell, Alan R. Shuldiner, Josef Coresh, Man Li, Paul Freudenberger, Edith Hofer, Helena Schmidt, Reinhold Schmidt, Elizabeth G. Holliday, Paul Mitchell, Jie Jin Wang, Ian H. de Boer, Guo Li, David S. Siscovick, Zoltan Kutalik, Tanguy Corre, Peter Vollenweider, Gérard Waeber, Jayanta Gupta, Peter A. Kanetsky, Shih-Jen Hwang, Matthias Olden, Qiong Yang, Mariza de Andrade, Elizabeth J. Atkinson, Sharon L.R. Kardia, Stephen T. Turner, Jeanette M. Stafford, Jingzhong Ding, Yongmei Liu, Cristina Barlassina, Daniele Cusi, Erika Salvi, Jan A Staessen, Paul M Ridker, Harald Grallert, Christa Meisinger, Martina Müller-Nurasyid, Bernhard K. Krämer, Holly Kramer, Sylvia E. Rosas, Ilja M. Nolte, Brenda W. Penninx, Harold Snieder, Fabiola Del Greco, Andre Franke, Ute Nöthlings, Wolfgang Lieb, Stephan J.L. Bakker, Ron T. Gansevoort, Pim van der Harst, Abbas Dehghan, Oscar H. Franco, Albert Hofman, Fernando Rivadeneira, Sanaz Sedaghat, André G. Uitterlinden, Stefan Coassin, Margot Haun, Barbara Kollerits, Florian Kronenberg, Bernhard Paulweber, Nicole Aumann, Karlhans Endlich, Mike Pietzner, Uwe Völker, Rainer Rettig, Vincent Chouraki, Catherine Helmer, Jean-Charles Lambert, Marie Metzger, Benedicte Stengel, Terho Lehtimäki, Leo-Pekka Lyytikäinen, Olli Raitakari, Andrew Johnson, Afshin Parsa, Murielle Bochud, Iris M. Heid, Wolfram Goessling, Anna Köttgen, H. Linda Kao, Caroline S. Fox, Carsten A. Böger
Kidney Int. Author manuscript; available in PMC 2015 Nov 1.
Published in final edited form as: Kidney Int. 2015 May; 87(5): 1017–1029. Published online 2014 Dec 10. doi: 10.1038/ki.2014.361
PMCID:
PMC4425568
AbstractArticlePDF–1.0M
19.
Protein interaction discovery using parallel analysis of translated ORFs (PLATO)
Jian Zhu, H. Benjamin Larman, Geng Gao, Romel Somwar, Zijuan Zhang, Uri Laserson, Alberto Ciccia, Natalya Pavlova, George Church, Wei Zhang, Santosh Kesari, Stephen J. Elledge
Nat Biotechnol. Author manuscript; available in PMC 2014 Jul 25.
Published in final edited form as: Nat Biotechnol. 2013 Apr; 31(4): 331–334. Published online 2013 Mar 17. doi: 10.1038/nbt.2539
PMCID:
PMC4110636
AbstractArticlePDF–585K
20.
Identification of CDH23 mutations in Korean families with hearing loss by whole-exome sequencing
Hae-Mi Woo, Hong-Joon Park, Mi-Hyun Park, Bo-Young Kim, Joong-Wook Shin, Won Gi Yoo, Soo Kyung Koo
BMC Med Genet. 2014; 15: 46. Published online 2014 Apr 28. doi: 10.1186/1471-2350-15-46
PMCID:
PMC4036425
AbstractArticlePDF–867K

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