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Items: 1 to 20 of 76

1.
Identification and computational analysis of USH1C, and SLC26A4 variants in Pakistani families with prelingual hearing loss
Muhammad Noman, Shazia A. Bukhari, Sakina Rehman, Muhammad Qasim, Muhammad Ali, Saima Riazuddin, Zubair M. Ahmed
Mol Biol Rep. Author manuscript; available in PMC 2023 Nov 27.
Published in final edited form as: Mol Biol Rep. 2020 Dec; 47(12): 9987–9993. Published online 2020 Nov 24. doi: 10.1007/s11033-020-06016-y
PMCID:
PMC10680121
ArticlePDF–940K
2.
Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy
Kerstin Nagel-Wolfrum, Benjamin R Fadl, Mirjana M Becker, Kirsten A Wunderlich, Jessica Schäfer, Daniel Sturm, Jacques Fritze, Burcu Gür, Lew Kaplan, Tommaso Andreani, Tobias Goldmann, Matthew Brooks, Margaret R Starostik, Anagha Lokhande, Melissa Apel, Karl R Fath, Katarina Stingl, Susanne Kohl, Margaret M DeAngelis, Ursula Schlötzer-Schrehardt, Ivana K Kim, Leah A Owen, Jan M Vetter, Norbert Pfeiffer, Miguel A Andrade-Navarro, Antje Grosche, Anand Swaroop, Uwe Wolfrum
Hum Mol Genet. 2023 Feb 1; 32(3): 431–449. Published online 2022 Aug 23. doi: 10.1093/hmg/ddac211
PMCID:
PMC9851744
ArticlePDF–2.4M
3.
Myosin 5b is required for proper localization of the intermicrovillar adhesion complex in the intestinal brush border
Sarah A. Dooley, Kristen A. Engevik, Jessica Digrazia, Rachel Stubler, Izumi Kaji, Evan Krystofiak, Amy C. Engevik
Am J Physiol Gastrointest Liver Physiol. 2022 Nov 1; 323(5): G501–G510. Published online 2022 Oct 11. doi: 10.1152/ajpgi.00212.2022
PMCID:
PMC9639760
Article
4.
Phenotypic and Genetic Characteristics in a Cohort of Patients with Usher Genes
Helena M. Feenstra, Saoud Al-Khuzaei, Mital Shah, Suzanne Broadgate, Morag Shanks, Archith Kamath, Jing Yu, Jasleen K. Jolly, Robert E. MacLaren, Penny Clouston, Stephanie Halford, Susan M. Downes
Genes (Basel) 2022 Aug; 13(8): 1423. Published online 2022 Aug 10. doi: 10.3390/genes13081423
PMCID:
PMC9407802
ArticlePDF–2.7M
5.
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
Sedigheh Delmaghani, Aziz El-Amraoui
Hum Genet. 2022; 141(3-4): 709–735. Published online 2022 Mar 30. doi: 10.1007/s00439-022-02448-7
PMCID:
PMC9034986
ArticlePDF–3.6M
6.
Hearing loss in Africa: current genetic profile
Samuel Mawuli Adadey, Edmond Wonkam-Tingang, Elvis Twumasi Aboagye, Osbourne Quaye, Gordon A. Awandare, Ambroise Wonkam
Hum Genet. 2022; 141(3-4): 505–517. Published online 2021 Oct 5. doi: 10.1007/s00439-021-02376-y
PMCID:
PMC9034983
ArticlePDF–1008K
7.
Early disruption of photoreceptor cell architecture and loss of vision in a humanized pig model of usher syndromes
Sophia Grotz, Jessica Schäfer, Kirsten A Wunderlich, Zdenka Ellederova, Hannah Auch, Andrea Bähr, Petra Runa‐Vochozkova, Janet Fadl, Vanessa Arnold, Taras Ardan, Miroslav Veith, Gianluca Santamaria, Georg Dhom, Wolfgang Hitzl, Barbara Kessler, Christian Eckardt, Joshua Klein, Anna Brymova, Joshua Linnert, Mayuko Kurome, Valeri Zakharchenko, Andrea Fischer, Andreas Blutke, Anna Döring, Stepanka Suchankova, Jiri Popelar, Eduardo Rodríguez‐Bocanegra, Julia Dlugaiczyk, Hans Straka, Helen May‐Simera, Weiwei Wang, Karl‐Ludwig Laugwitz, Luk H Vandenberghe, Eckhard Wolf, Kerstin Nagel‐Wolfrum, Tobias Peters, Jan Motlik, M Dominik Fischer, Uwe Wolfrum, Nikolai Klymiuk
EMBO Mol Med. 2022 Apr; 14(4): e14817. Published online 2022 Mar 7. doi: 10.15252/emmm.202114817
PMCID:
PMC8988205
ArticlePDF–4.1M
8.
Novel pathogenic mutations and further evidence for clinical relevance of genes and variants causing hearing impairment in Tunisian population
Amal Souissi, Mariem Ben Said, Ikhlas Ben Ayed, Ines Elloumi, Amal Bouzid, Mohamed Ali Mosrati, Mehdi Hasnaoui, Malek Belcadhi, Nabil Idriss, Hassen Kamoun, Nourhene Gharbi, Abdullah A. Gibriel, Abdelaziz Tlili, Saber Masmoudi
J Adv Res. 2021 Jul; 31: 13–24. Published online 2021 Jan 12. doi: 10.1016/j.jare.2021.01.005
PMCID:
PMC8240103
ArticlePDF–1.7M
9.
Sector Retinitis Pigmentosa: Extending the Molecular Genetics Basis and Elucidating the Natural History
Michalis Georgiou, Parampal S. Grewal, Akshay Narayan, Muath Alser, Naser Ali, Kaoru Fujinami, Andrew R. Webster, Michel Michaelides
Am J Ophthalmol. 2021 Jan; 221: 299–310. doi: 10.1016/j.ajo.2020.08.004
PMCID:
PMC7772805
ArticlePDF–3.8M
10.
Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss
Yan‐Bao Xiang, Chen‐Yang Xu, Yun‐Zhi Xu, Huan‐Zheng Li, Li‐Li Zhou, Xue‐Qin Xu, Zi‐Hui Chen, Shao‐Hua Tang
Mol Genet Genomic Med. 2020 Dec; 8(12): e1539. Published online 2020 Oct 23. doi: 10.1002/mgg3.1539
PMCID:
PMC7767562
ArticlePDF–982K
11.
A heterologous in-cell assay for investigating intermicrovillar adhesion complex interactions reveals a novel protrusion length-matching mechanism
Meredith L. Weck, Scott W. Crawley, Matthew J. Tyska
J Biol Chem. 2020 Nov 27; 295(48): 16191–16206. Published online 2020 Oct 13. doi: 10.1074/jbc.RA120.015929
PMCID:
PMC7705319
ArticlePDF–7.1M
12.
Direct Delivery of Antisense Oligonucleotides to the Middle and Inner Ear Improves Hearing and Balance in Usher Mice
Jennifer J. Lentz, Bifeng Pan, Abhilash Ponnath, Christopher M. Tran, Carl Nist-Lund, Alice Galvin, Hannah Goldberg, Katelyn N. Robillard, Francine M. Jodelka, Hamilton E. Farris, Jun Huang, Tianwen Chen, Hong Zhu, Wu Zhou, Frank Rigo, Michelle L. Hastings, Gwenaëlle S.G. Géléoc
Mol Ther. 2020 Dec 2; 28(12): 2662–2676. Published online 2020 Aug 5. doi: 10.1016/j.ymthe.2020.08.002
PMCID:
PMC7704764
ArticlePDF–3.4M
13.
Screening Consanguineous Families for Hearing Loss Using the MiamiOtoGenes Panel
Abhiraami Kannan-Sundhari, Denise Yan, Kolsoum Saeidi, Afsaneh Sahebalzamani, Susan H. Blanton, Xue Zhong Liu
Genet Test Mol Biomarkers. October 2020; 24(10): 674–680. Published online 2020 Oct 15. doi: 10.1089/gtmb.2020.0153
PMCID:
PMC7585618
ArticlePDF–452K
14.
Fetal antisense oligonucleotide therapy for congenital deafness and vestibular dysfunction
Lingyan Wang, J Beth Kempton, Han Jiang, Francine M Jodelka, Alev M Brigande, Rachel A Dumont, Frank Rigo, Jennifer J Lentz, Michelle L Hastings, John V Brigande
Nucleic Acids Res. 2020 May 21; 48(9): 5065–5080. Published online 2020 Apr 6. doi: 10.1093/nar/gkaa194
PMCID:
PMC7229850
ArticlePDF–8.7M
15.
A Novel Heterozygous Missense Variant (c.667G>T;p.Gly223Cys) in USH1C That Interferes With Cadherin-Related 23 and Harmonin Interaction Causes Autosomal Dominant Nonsyndromic Hearing Loss
Ju Sun Song, Amel Bahloul, Christine Petit, Sang Jin Kim, Il Joon Moon, Jinhyuk Lee, Change-Seok Ki
Ann Lab Med. 2020 May; 40(3): 224–231. Published online 2019 Dec 18. doi: 10.3343/alm.2020.40.3.224
PMCID:
PMC6933062
ArticlePDF–876K
16.
Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry
Imen Chakchouk, Di Zhang, Zhihui Zhang, Laurent C. Francioli, Regie Lyn P. Santos-Cortez, Isabelle Schrauwen, Suzanne M. Leal
Eur J Hum Genet. 2019 Sep; 27(9): 1456–1465. Published online 2019 May 3. doi: 10.1038/s41431-019-0417-2
PMCID:
PMC6777454
ArticlePDF–1.1M
17.
Grxcr1 Promotes Hair Bundle Development by Destabilizing the Physical Interaction between Harmonin and Sans Usher Syndrome Proteins
Bernardo Blanco-Sánchez, Aurélie Clément, Javier Fierro, Jr., Sarah Stednitz, Jennifer B. Phillips, Jeremy Wegner, Jennifer M. Panlilio, Judy L. Peirce, Philip Washbourne, Monte Westerfield
Cell Rep. Author manuscript; available in PMC 2018 Dec 7.
Published in final edited form as: Cell Rep. 2018 Oct 30; 25(5): 1281–1291.e4. doi: 10.1016/j.celrep.2018.10.005
PMCID:
PMC6284068
ArticlePDF–1.3M
18.
High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative
Carla Fuster-García, Gema García-García, Teresa Jaijo, Neus Fornés, Carmen Ayuso, Miguel Fernández-Burriel, Ana Sánchez-De la Morena, Elena Aller, José M. Millán
Sci Rep. 2018; 8: 17113. Published online 2018 Nov 20. doi: 10.1038/s41598-018-35085-0
PMCID:
PMC6244211
ArticlePDF–4.1M
19.
Mutations in OTOF, CLDN14 & SLC26A4 genes as major causes of hearing impairment in Dhadkai village, Jammu & Kashmir, India
Nishtha Pandey, Tabassum Rashid, Rajeev Jalvi, Meenakshi Sharma, Raghunath Rangasayee, Khurshid Iqbal Andrabi, Anuranjan Anand
Indian J Med Res. 2017 Oct; 146(4): 489–497. doi: 10.4103/ijmr.IJMR_635_15
PMCID:
PMC5819031
ArticlePDF–1.2M
20.
Rescue of Outer Hair Cells with Antisense Oligonucleotides in Usher Mice Is Dependent on Age of Treatment
Abhilash Ponnath, Frederic F. Depreux, Francine M. Jodelka, Frank Rigo, Hamilton E. Farris, Michelle L. Hastings, Jennifer J. Lentz
J Assoc Res Otolaryngol. 2018 Feb; 19(1): 1–16. Published online 2017 Oct 12. doi: 10.1007/s10162-017-0640-x
PMCID:
PMC5783922
ArticlePDF–2.9M

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