PMC Links for Gene (Select 125336) - PMC

Select item 97165781.

Oncofusion-driven de novo enhancer assembly promotes malignancy in Ewing sarcoma via aberrant expression of the stereociliary protein LOXHD1

Qu Deng, Ramakrishnan Natesan, Florencia Cidre-Aranaz, Shehbeel Arif, Ying Liu, Reyaz ur Rasool, Pei Wang, Erick Mitchell-Velasquez, Chandan Kanta Das, Endrit Vinca, Zvi Cramer, Patrick J. Grohar, Margaret Chou, Chandan Kumar-Sinha, Kristy Weber, T.S. Karin Eisinger-Mathason, Nicolas Grillet, Thomas Grünewald, Irfan A. Asangani

Cell Rep. Author manuscript; available in PMC 2022 Dec 2.

Published in final edited form as: Cell Rep. 2022 Jun 14; 39(11): 110971. doi: 10.1016/j.celrep.2022.110971

PMCID:: PMC9716578

Article PDF–3.5M

Select item 70494432.

Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families

Xiaohui Bai, Chi Zhang, Fengguo Zhang, Yun Xiao, Yu Jin, Haibo Wang, Lei Xu

Biomed Res Int. 2020; 2020: 1685974. Published online 2020 Feb 18. doi: 10.1155/2020/1685974

Correction in:: Biomed Res Int. 2020; 2020: 9519415.

PMCID:: PMC7049443

Article PDF–1.1M

Select item 70456663.

A novel LOXHD1 variant in a Chinese couple with hearing loss

Chuan Zhang, Shengju Hao, Yali Liu, Bingbo Zhou, Furong Liu, Lei Zheng, Panpan Ma, Qing Liu, Xiaojuan Lin, Yousheng Yan, Qinghua Zhang

J Int Med Res. 2019 Dec; 47(12): 6082–6090. Published online 2019 Nov 10. doi: 10.1177/0300060519884197

PMCID:: PMC7045666

Article PDF–669K

Select item 68264704.

Mutational Spectrum and Clinical Features of Patients with LOXHD1 Variants Identified in an 8074 Hearing Loss Patient Cohort

Karuna Maekawa, Shin-ya Nishio, Satoko Abe, Shin-ichi Goto, Yohei Honkura, Satoshi Iwasaki, Yukihiko Kanda, Yumiko Kobayashi, Shin-ichiro Oka, Mayuri Okami, Chie Oshikawa, Naoko Sakuma, Hajime Sano, Masayuki Shirakura, Natsumi Uehara, Shin-ichi Usami

Genes (Basel) 2019 Oct; 10(10): 735. Published online 2019 Sep 23. doi: 10.3390/genes10100735

PMCID:: PMC6826470

Article PDF–6.3M

Select item 63730295.

Whole-exome sequencing identifies a novel missense variant within LOXHD1 causing rare hearing loss in a Chinese family

Na Shen, Ting Wang, Delei Li, Aiguo Liu, Yanjun Lu

BMC Med Genet. 2019; 20: 30. Published online 2019 Feb 13. doi: 10.1186/s12881-019-0758-2

PMCID:: PMC6373029

Article PDF–882K

Select item 44418416.

Mutations in LOXHD1 gene cause various types and severities of hearing loss

Kentaro Mori, Hideaki Moteki, Yumiko Kobayashi, Hela Azaiez, Kevin T Booth, Shin-ya Nishio, Hiroaki Sato, Richard J H Smith, Shin-ichi Usami

Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2015 May 23.

Published in final edited form as: Ann Otol Rhinol Laryngol. 2015 May; 124(1 0): 135S–141S. Published online 2015 Mar 19. doi: 10.1177/0003489415574067

PMCID:: PMC4441841

Article PDF–506K

Select item 33091967.

Mutations in LOXHD1, a Recessive-Deafness Locus, Cause Dominant Late-Onset Fuchs Corneal Dystrophy

S. Amer Riazuddin, David S. Parker, Elyse J. McGlumphy, Edwin C. Oh, Benjamin W. Iliff, Thore Schmedt, Ula Jurkunas, Robert Schleif, Nicholas Katsanis, John D. Gottsch

Am J Hum Genet. 2012 Mar 9; 90(3): 533–539. doi: 10.1016/j.ajhg.2012.01.013

PMCID:: PMC3309196

Article PDF–853K

Select item 27715348.

Mutations in LOXHD1, an Evolutionarily Conserved Stereociliary Protein, Disrupt Hair Cell Function in Mice and Cause Progressive Hearing Loss in Humans

Nicolas Grillet, Martin Schwander, Michael S. Hildebrand, Anna Sczaniecka, Anand Kolatkar, Janice Velasco, Jennifer A. Webster, Kimia Kahrizi, Hossein Najmabadi, William J. Kimberling, Dietrich Stephan, Melanie Bahlo, Tim Wiltshire, Lisa M. Tarantino, Peter Kuhn, Richard J.H. Smith, Ulrich Müller

Am J Hum Genet. 2009 Sep 11; 85(3): 328–337. doi: 10.1016/j.ajhg.2009.07.017

PMCID:: PMC2771534

Article PDF–1.5M

Select item 48669669.

Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy

HUI TANG, WEN ZHANG, XIN-MIN YAN, LIN-PING WANG, HONG DONG, TAO SHOU, HUO LEI, QIANG GUO

Int J Mol Med. 2016 Jun; 37(6): 1487–1500. Published online 2016 Apr 20. doi: 10.3892/ijmm.2016.2570

PMCID:: PMC4866966

Article PDF–1.4M

Select item 992246810.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Article PDF–4.9M

Select item 1626711.

Shotgun sequencing of the human transcriptome with ORF expressed sequence tags

Emmanuel Dias Neto, Ricardo Garcia Correa, Sergio Verjovski-Almeida, Marcelo R. S. Briones, Maria Aparecida Nagai, Wilson da Silva, Jr., Marco Antonio Zago, Silvana Bordin, Fernando Ferreira Costa, Gustavo Henrique Goldman, Alex F. Carvalho, Adriana Matsukuma, Gilson S. Baia, David H. Simpson, Adriana Brunstein, Paulo S. L. de Oliveira, Philipp Bucher, C. Victor Jongeneel, Michael J. O'Hare, Fernando Soares, Ricardo R. Brentani, Luis F. L. Reis, Sandro J. de Souza, Andrew J. G. Simpson

Proc Natl Acad Sci U S A. 2000 Mar 28; 97(7): 3491–3496. doi: 10.1073/pnas.97.7.3491

PMCID:: PMC16267

Article PDF–111K

Select item 184794812.

Large-scale mapping of human protein–protein interactions by mass spectrometry

Rob M Ewing, Peter Chu, Fred Elisma, Hongyan Li, Paul Taylor, Shane Climie, Linda McBroom-Cerajewski, Mark D Robinson, Liam O'Connor, Michael Li, Rod Taylor, Moyez Dharsee, Yuen Ho, Adrian Heilbut, Lynda Moore, Shudong Zhang, Olga Ornatsky, Yury V Bukhman, Martin Ethier, Yinglun Sheng, Julian Vasilescu, Mohamed Abu-Farha, Jean-Philippe Lambert, Henry S Duewel, Ian I Stewart, Bonnie Kuehl, Kelly Hogue, Karen Colwill, Katharine Gladwish, Brenda Muskat, Robert Kinach, Sally-Lin Adams, Michael F Moran, Gregg B Morin, Thodoros Topaloglou, Daniel Figeys

Mol Syst Biol. 2007; 3: 89. Published online 2007 Mar 13. doi: 10.1038/msb4100134