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Select item 103934231.

Spontaneous allelic variant in deafness–blindness gene Ush1g resulting in an expanded phenotype

Vladimir Vartanian, Jocelyn F. Krey, Paroma Chatterjee, Allison Curtis, Makayla Six, Sean P. M. Rice, Sherri M. Jones, Harini Sampath, Charles N. Allen, Renee C. Ryals, R. Stephen Lloyd, Peter G. Barr‐Gillespie

Genes Brain Behav. 2023 Aug; 22(4): e12849. Published online 2023 Jun 16. doi: 10.1111/gbb.12849

PMCID:: PMC10393423

Abstract Article PDF–5.0M

Select item 81917902.

SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes

Adem Yildirim, Sina Mozaffari-Jovin, Ann-Kathrin Wallisch, Jessica Schäfer, Sebastian E J Ludwig, Henning Urlaub, Reinhard Lührmann, Uwe Wolfrum

Nucleic Acids Res. 2021 Jun 4; 49(10): 5845–5866. Published online 2021 May 22. doi: 10.1093/nar/gkab386

PMCID:: PMC8191790

Abstract Article PDF–11M

Select item 67875593.

SANS (USH1G) Molecularly Links the Human Usher Syndrome Protein Network to the Intraflagellar Transport Module by Direct Binding to IFT-B Proteins

Nasrin Sorusch, Adem Yildirim, Barbara Knapp, Julia Janson, Wiebke Fleck, Caroline Scharf, Uwe Wolfrum

Front Cell Dev Biol. 2019; 7: 216. Published online 2019 Oct 4. doi: 10.3389/fcell.2019.00216

PMCID:: PMC6787559

Abstract Article PDF–3.9M

Select item 60538314.

Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairment

Isabelle Schrauwen, Imen Chakchouk, Anushree Acharya, Khurram Liaqat, Irfanullah, University of Washington Center for Mendelian Genomics, Deborah A. Nickerson, Michael J. Bamshad, Khadim Shah, Wasim Ahmad, Suzanne M. Leal

BMC Med Genet. 2018; 19: 122. Published online 2018 Jul 20. doi: 10.1186/s12881-018-0618-5

PMCID:: PMC6053831

Abstract Article PDF–752K

Select item 55946935.

Local gene therapy durably restores vestibular function in a mouse model of Usher syndrome type 1G

Alice Emptoz, Vincent Michel, Andrea Lelli, Omar Akil, Jacques Boutet de Monvel, Ghizlene Lahlou, Anaïs Meyer, Typhaine Dupont, Sylvie Nouaille, Elody Ey, Filipa Franca de Barros, Mathieu Beraneck, Didier Dulon, Jean-Pierre Hardelin, Lawrence Lustig, Paul Avan, Christine Petit, Saaid Safieddine

Proc Natl Acad Sci U S A. 2017 Sep 5; 114(36): 9695–9700. Published online 2017 Aug 23. doi: 10.1073/pnas.1708894114

PMCID:: PMC5594693

Abstract Article PDF–1.7M

Select item 34134306.

USH1G with unique retinal findings caused by a novel truncating mutation identified by genome-wide linkage analysis

Faiqa Imtiaz, Khalid Taibah, Ghada Bin-Khamis, Shelley Kennedy, Amal Hemidan, Faisal Al-Qahtani, Khalid Tabbara, Bashayer Al Mubarak, Khushnooda Ramzan, Brian F. Meyer, Mohammed Al-Owain

Mol Vis. 2012; 18: 1885–1894. Published online 2012 Jul 12.

PMCID:: PMC3413430

Abstract Article PDF–919K

Select item 32503797.

Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1

Leah Rizel, Christine Safieh, Stavit A. Shalev, Eedy Mezer, Haneen Jabaly-Habib, Ziva Ben-Neriah, Elena Chervinsky, Daniel Briscoe, Tamar Ben-Yosef

Mol Vis. 2011; 17: 3548–3555. Published online 2011 Dec 30.

PMCID:: PMC3250379

Abstract Article PDF–1.2M

Select item 26494358.

Characterization of the Drosophila Ortholog of the Human Usher Syndrome Type 1G Protein Sans

Fabio Demontis, Christian Dahmann

PLoS One. 2009; 4(3): e4753. Published online 2009 Mar 9. doi: 10.1371/journal.pone.0004753

PMCID:: PMC2649435

Abstract Article PDF–4.3M

Select item 107441089.

Pathogenic Variants in USH1G/SANS Alter Protein Interaction with Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome

Jacques S. Fritze, Felizitas F. Stiehler, Uwe Wolfrum

Int J Mol Sci. 2023 Dec; 24(24): 17608. Published online 2023 Dec 18. doi: 10.3390/ijms242417608

PMCID:: PMC10744108

Abstract Article PDF–3.3M

Select item 903498610.

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

Abstract Article PDF–3.6M

Select item 903498311.

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

Abstract Article PDF–1008K

Select item 869396312.

Comparative analysis of the MyTH4-FERM myosins reveals insights into the determinants of actin track selection in polarized epithelia

Samaneh Matoo, Maura J. Graves, Prashun Acharya, Myoung Soo Choi, Zachary A. Storad, Rawnag A. El Sheikh Idris, Brooke K. Pickles, Taylen O. Arvay, Paula E. Shinder, Andrew Gerts, Jacob P. Papish, Scott W. Crawley

Mol Biol Cell. 2021 Nov 1; 32(21): ar30. doi: 10.1091/mbc.E20-07-0494

PMCID:: PMC8693963

Abstract Article PDF–9.4M

Select item 776756213.

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

Abstract Article PDF–982K

Select item 747672014.

A cryptic sequence targets the adhesion complex scaffold ANKS4B to apical microvilli to promote enterocyte brush border assembly

Maura J. Graves, Samaneh Matoo, Myoung Soo Choi, Zachary A. Storad, Rawnag A. El Sheikh Idris, Brooke K. Pickles, Prashun Acharya, Paula E. Shinder, Taylen O. Arvay, Scott W. Crawley

J Biol Chem. 2020 Sep 4; 295(36): 12588–12604. Published online 2020 Jul 6. doi: 10.1074/jbc.RA120.013790

PMCID:: PMC7476720

Abstract Article PDF–10M

Select item 677754315.

Hearing impairment locus heterogeneity and identification of PLS1 as a new autosomal dominant gene in Hungarian Roma

Isabelle Schrauwen, Béla I. Melegh, Imen Chakchouk, Anushree Acharya, Abdul Nasir, Alexis Poston, Diana M. Cornejo-Sanchez, Zsolt Szabo, Tamás Karosi, Judit Bene, Béla Melegh, Suzanne M. Leal

Eur J Hum Genet. 2019 Jun; 27(6): 869–878. Published online 2019 Mar 14. doi: 10.1038/s41431-019-0372-y

PMCID:: PMC6777543

Abstract Article PDF–1.7M

Select item 624421116.

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

Abstract Article PDF–4.1M

Select item 614317717.

A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval

AT DeWan, AR Parrado, SM Leal

Clin Genet. Author manuscript; available in PMC 2018 Sep 18.

Published in final edited form as: Clin Genet. 2003 Jan; 63(1): 39–45. doi: 10.1034/j.1399-0004.2003.630106.x

PMCID:: PMC6143177

Abstract Article PDF–593K

Select item 607560218.

The roles of USH1 proteins and PDZ domain-containing USH proteins in USH2 complex integrity in cochlear hair cells

Junhuang Zou, Qian Chen, Ali Almishaal, Pranav Dinesh Mathur, Tihua Zheng, Cong Tian, Qing Y. Zheng, Jun Yang

Hum Mol Genet. 2017 Feb 1; 26(3): 624–636. Published online 2016 Dec 28. doi: 10.1093/hmg/ddw421

PMCID:: PMC6075602

Abstract Article PDF–1.7M

Select item 568814919.

Targeted next generation sequencing in Italian patients with Usher syndrome: phenotype-genotype correlations

Chiara M. Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese

Sci Rep. 2017; 7: 15681. Published online 2017 Nov 15. doi: 10.1038/s41598-017-16014-z

PMCID:: PMC5688149

Abstract Article PDF–1.7M

Select item 500864220.

Diversity of the Genes Implicated in Algerian Patients Affected by Usher Syndrome

Samia Abdi, Amel Bahloul, Asma Behlouli, Jean-Pierre Hardelin, Mohamed Makrelouf, Kamel Boudjelida, Malek Louha, Ahmed Cheknene, Rachid Belouni, Yahia Rous, Zahida Merad, Djamel Selmane, Mokhtar Hasbelaoui, Crystel Bonnet, Akila Zenati, Christine Petit

PLoS One. 2016; 11(9): e0161893. Published online 2016 Sep 1. doi: 10.1371/journal.pone.0161893