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Select item 104511581.

X-Linked Gusher Disease DFNX2 in Children, a Rare Inner Ear Dysplasia with Mixed Hearing and Vestibular Loss

Soumit Dasgupta, James Hong, Rhyanna Morris, Javed Iqbal, Amy Lennox-Bowley, Jeyasakthy Saniasiaya

Audiol Res. 2023 Aug; 13(4): 600–614. Published online 2023 Aug 4. doi: 10.3390/audiolres13040052

PMCID:: PMC10451158

Abstract Article PDF–2.0M

Select item 61227422.

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 46444273.

X-linked Deafness-2 (DFNX2) Phenotype Associated with a Paracentric Inversion Upstream of POU3F4

Gregory J. Anger, Susan Crocker, Kyle McKenzie, Kerry K. Brown, Cynthia C. Morton, Karen Harrison, Jennifer J. MacKenzie

Am J Audiol. Author manuscript; available in PMC 2015 Nov 14.

Published in final edited form as: Am J Audiol. 2014 Mar; 23(1): 1–6. doi: 10.1044/1059-0889(2013/13-0018)

PMCID:: PMC4644427

Abstract Article PDF–1.1M

Select item 16828654.

Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)

I. Bach, H. G. Brunner, P. Beighton, R. H. A. Ruvalcaba, W. Reardon, M. E. Pembrey, S. D. van der Velde-Visser, G. A. P. Bruns, C. W. R. J. Cremers, F. P. M. Cremers, H.-H. Ropers

Am J Hum Genet. 1992 Jul; 51(1): 38–44.

PMCID:: PMC1682865

Summary Page Browse PDF–1.2M

Select item 44582965.

Association of PRPS1 Mutations with Disease Phenotypes

Rahul Mittal, Kunal Patel, Jeenu Mittal, Brandon Chan, Denise Yan, M'hamed Grati, Xue Zhong Liu

Dis Markers. 2015; 2015: 127013. Published online 2015 May 24. doi: 10.1155/2015/127013

PMCID:: PMC4458296

Abstract Article PDF–587K

Select item 32595356.

Otic Mesenchyme Cells Regulate Spiral Ganglion Axon Fasciculation through a Pou3f4/EphA4 Signaling Pathway

Thomas M. Coate, Steven Raft, Xiumei Zhao, Aimee K. Ryan, E. Bryan Crenshaw, III, Matthew W. Kelley

Neuron. Author manuscript; available in PMC 2013 Jan 12.

Published in final edited form as: Neuron. 2012 Jan 12; 73(1): 49–63. doi: 10.1016/j.neuron.2011.10.029

PMCID:: PMC3259535

Abstract Article PDF–4.9M

Select item 18013087.

X-linked progressive mixed deafness: a new microdeletion that involves a more proximal region in Xq21.

C Piussan, A Hanauer, N Dahl, M Mathieu, C Kolski, V Biancalana, S Heyberger, V Strunski

Am J Hum Genet. 1995 Jan; 56(1): 224–230.

PMCID:: PMC1801308

Summary Page Browse PDF–1.3M

Select item 88623118.

Genetic findings of Sanger and nanopore single-molecule sequencing in patients with X-linked hearing loss and incomplete partition type III

Ying Chen, Jiajun Qiu, Yingwei Wu, Huan Jia, Yi Jiang, Mengda Jiang, Zhili Wang, Hai-Bin Sheng, Lingxiang Hu, Zhihua Zhang, Zhaoyan Wang, Yun Li, Zhiwu Huang, Hao Wu

Orphanet J Rare Dis. 2022; 17: 65. Published online 2022 Feb 21. doi: 10.1186/s13023-022-02235-7

PMCID:: PMC8862311

Abstract Article PDF–1.3M

Select item 30131429.

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 168351410.

Choroideremia and deafness with stapes fixation: a contiguous gene deletion syndrome in Xq21.

D E Merry, J G Lesko, D M Sosnoski, R A Lewis, M Lubinsky, B Trask, G van den Engh, F S Collins, R L Nussbaum

Am J Hum Genet. 1989 Oct; 45(4): 530–540.

PMCID:: PMC1683514

Summary Page Browse PDF–2.4M

Select item 819364011.

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 419229812.

Pou3f4-Mediated Regulation of Ephrin-B2 Controls Temporal Bone Development in the Mouse

Steven Raft, Thomas M. Coate, Matthew W. Kelley, E. Bryan Crenshaw, III, Doris K. Wu

PLoS One. 2014; 9(10): e109043. Published online 2014 Oct 9. doi: 10.1371/journal.pone.0109043

PMCID:: PMC4192298

Abstract Article PDF–3.2M

Select item 565900313.

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report

Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin

BMC Med Genet. 2017; 18: 121. Published online 2017 Oct 26. doi: 10.1186/s12881-017-0484-6

PMCID:: PMC5659003

Abstract Article PDF–661K

Select item 814310414.

A New Pathogenic Variant in POU3F4 Causing Deafness Due to an Incomplete Partition of the Cochlea Paved the Way for Innovative Surgery

Ahmet M. Tekin, Marco Matulic, Wim Wuyts, Masoud Zoka Assadi, Griet Mertens, Vincent van Rompaey, Yongxin Li, Paul van de Heyning, Vedat Topsakal

Genes (Basel) 2021 May; 12(5): 613. Published online 2021 Apr 21. doi: 10.3390/genes12050613

PMCID:: PMC8143104

Abstract Article PDF–1.4M

Select item 314327015.

Molecular and Clinical Studies of X-linked Deafness Among Pakistani Families

Ali M. Waryah, Zubair M. Ahmed, Daniel I. Choo, Robert A. Sisk, Munir A. Binder, Mohsin Shahzad, Shaheen N. Khan, Thomas B. Friedman, Sheikh Riazuddin, Saima Riazuddin

J Hum Genet. Author manuscript; available in PMC 2012 Jan 1.

Published in final edited form as: J Hum Genet. 2011 Jul; 56(7): 534–540. Published online 2011 Jun 2. doi: 10.1038/jhg.2011.55

Correction in:: volume 56 on page 752

PMCID:: PMC3143270

Abstract Article PDF–1.3M

Select item 293933016.

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 442228217.

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 371434618.

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 515281719.

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