PMC Links for Gene (Select 5456) - PMC

Select item 86942641.

X-linked Malformation Deafness: Neurodevelopmental Symptoms Are Common in Children With IP3 Malformation and Mutation in POU3F4

Henrik Smeds, Jeremy Wales, Eva Karltorp, Britt-Marie Anderlid, Cecilia Henricson, Filip Asp, Lena Anmyr, Kristina Lagerstedt-Robinson, Ulrika Löfkvist

Ear Hear. 2022 Jan-Feb; 43(1): 53–69. Published online 2021 Jun 15. doi: 10.1097/AUD.0000000000001073

PMCID:: PMC8694264

Abstract Article PDF–851K

Select item 81936402.

Study of complex structural variations of X-linked deafness-2 based on single-molecule sequencing

Yi Jiang, Lihua Wu, Shasha Huang, Pidong Li, Bo Gao, Yongyi Yuan, Siwen Zhang, Guoliang Yu, Yong Gao, Hao Wu, Pu Dai

Biosci Rep. 2021 Jun 25; 41(6): BSR20203740. Published online 2021 Jun 10. doi: 10.1042/BSR20203740

PMCID:: PMC8193640

Abstract Article PDF–1.1M

Select item 78099113.

Research progress of the transcription factor Brn4

Yuying Wu, Xunrui Zhang, Jue Wang, Guohua Jin, Xinhua Zhang

Mol Med Rep. 2021 Mar; 23(3): 179. Published online 2020 Dec 31. doi: 10.3892/mmr.2020.11818

PMCID:: PMC7809911

Abstract Article PDF–397K

Select item 61227424.

Clinical and molecular characterization of POU3F4 mutations in multiple DFNX2 Chinese families

Yu Su, Xue Gao, Sha-Sha Huang, Jing-Ning Mao, Bang-Qing Huang, Jian-Dong Zhao, Dong-Yang Kang, Xin Zhang, Pu Dai

BMC Med Genet. 2018; 19: 157. Published online 2018 Sep 4. doi: 10.1186/s12881-018-0630-9

PMCID:: PMC6122742

Abstract Article PDF–1.5M

Select item 52211185.

A POU3F4 Mutation Causes Nonsyndromic Hearing Loss in a Chinese X-linked Recessive Family

Wan Du, Ming-Kun Han, Da-Yong Wang, Bing Han, Liang Zong, Lan Lan, Ju Yang, Qi Shen, Lin-Yi Xie, Lan Yu, Jing Guan, Qiu-Ju Wang

Chin Med J (Engl) 2017 Jan 5; 130(1): 88–92. doi: 10.4103/0366-6999.196565

PMCID:: PMC5221118

Abstract PDF–638K

Select item 51528176.

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, Anna Kędra, Piotr Stawiński, Małgorzata Rydzanicz, Mariusz Furmanek, Małgorzata Brzozowska, Maciej Mrówka, Henryk Skarżyński, Piotr H. Skarżyński, Monika Ołdak, Rafał Płoski

PLoS One. 2016; 11(12): e0166618. Published online 2016 Dec 12. doi: 10.1371/journal.pone.0166618

PMCID:: PMC5152817

Abstract Article PDF–2.1M

Select item 44222827.

Novel domain-specific POU3F4 mutations are associated with X-linked deafness: examples from different populations

Guney Bademci, Akeem O Lasisi, Kemal O Yariz, Paola Montenegro, Ibis Menendez, Rodrigo Vinueza, Rosario Paredes, Germania Moreta, Asli Subasioglu, Susan Blanton, Suat Fitoz, Armagan Incesulu, Levent Sennaroglu, Mustafa Tekin

BMC Med Genet. 2015; 16: 9. Published online 2015 Feb 25. doi: 10.1186/s12881-015-0149-2

PMCID:: PMC4422282

Abstract Article PDF–1.2M

Select item 68255568.

BRN4 is a novel driver of neuroendocrine differentiation in castration-resistant prostate cancer and is selectively released in extracellular vesicles with BRN2

Divya Bhagirath, Thao Ly Yang, Z Laura Tabatabai, Shahana Majid, Rajvir Dahiya, Yuichiro Tanaka, Sharanjot Saini

Clin Cancer Res. Author manuscript; available in PMC 2020 May 1.

Published in final edited form as: Clin Cancer Res. 2019 Nov 1; 25(21): 6532–6545. Published online 2019 Aug 1. doi: 10.1158/1078-0432.CCR-19-0498

PMCID:: PMC6825556

Abstract Article PDF–924K

Select item 37143469.

Cytoplasmic Mislocalization of POU3F4 Due to Novel Mutations Leads to Deafness in Humans and Mice

Thomas Parzefall, Shaked Shivatzki, Danielle R. Lenz, Birgit Rathkolb, Kathy Ushakov, Daphne Karfunkel, Yisgav Shapira, Michael Wolf, Manuela Mohr, Eckhard Wolf, Sibylle Sabrautzki, Martin Hrabé De Angelis, Moshe Frydman, Zippora Brownstein, Karen B. Avraham

Hum Mutat. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Hum Mutat. 2013 Aug; 34(8): 1102–1110. Published online 2013 May 8. doi: 10.1002/humu.22339

PMCID:: PMC3714346

Abstract Article PDF–2.6M

Select item 293933010.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

Silvia Naranjo, Krysta Voesenek, Elisa de la Calle-Mustienes, Alex Robert-Moreno, Haris Kokotas, Maria Grigoriadou, John Economides, Guy Van Camp, Nele Hilgert, Felipe Moreno, Berta Alsina, Michael B. Petersen, Hannie Kremer, José Luis Gómez-Skarmeta

Hum Genet. 2010; 128(4): 411–419. Published online 2010 Jul 29. doi: 10.1007/s00439-010-0864-x

PMCID:: PMC2939330

Abstract Article PDF–701K

Select item 808466411.

Next-Generation Sequencing Identifies Pathogenic Variants in HGF, POU3F4, TECTA, and MYO7A in Consanguineous Pakistani Deaf Families

Xueshuang Mei, Yaqi Zhou, Muhammad Amjad, Weiqiang Yang, Rufei Zhu, Muhammad Asif, Hafiz Muhammad Jafar Hussain, Tao Yang, Furhan Iqbal, Hongyi Hu

Neural Plast. 2021; 2021: 5528434. Published online 2021 Apr 22. doi: 10.1155/2021/5528434

PMCID:: PMC8084664

Abstract Article PDF–1.0M

Select item 328961412.

Common Molecular Etiologies Are Rare in Nonsyndromic Tibetan Chinese Patients with Hearing Impairment

Yongyi Yuan, Xun Zhang, Shasha Huang, Lujie Zuo, Guozheng Zhang, Yueshuai Song, Guojian Wang, Hongtian Wang, Deliang Huang, Dongyi Han, Pu Dai

PLoS One. 2012; 7(2): e30720. Published online 2012 Feb 28. doi: 10.1371/journal.pone.0030720

PMCID:: PMC3289614

Abstract Article PDF–944K

Select item 117113813.

A role for the POU-III transcription factor Brn-4 in the regulation of striatal neuron precursor differentiation.

T Shimazaki, Y Arsenijevic, A K Ryan, M G Rosenfeld, S Weiss

EMBO J. 1999 Jan 15; 18(2): 444–456. doi: 10.1093/emboj/18.2.444

PMCID:: PMC1171138

Summary PDF–490K

Select item 301314214.

Characterization of New Otic Enhancers of the Pou3f4 Gene Reveal Distinct Signaling Pathway Regulation and Spatio-Temporal Patterns

Àlex Robert-Moreno, Silvia Naranjo, Elisa de la Calle-Mustienes, José Luis Gómez-Skarmeta, Berta Alsina

PLoS One. 2010; 5(12): e15907. Published online 2010 Dec 31. doi: 10.1371/journal.pone.0015907

PMCID:: PMC3013142

Abstract Article PDF–6.1M

Select item 266528615.

The DNA sequence of the human X chromosome

Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley

Nature. Author manuscript; available in PMC 2009 Apr 5.

Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440

PMCID:: PMC2665286

Abstract Article PDF–1.0M

Select item 800904816.

Impact of cytosine methylation on DNA binding specificities of human transcription factors

Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale

Science. Author manuscript; available in PMC 2021 Mar 30.

Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239

PMCID:: PMC8009048

Abstract Article PDF–2.6M

Select item 317805917.

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

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