PMC Links for Gene (Select 124590) - PMC

Links from Gene

Items: 1 to 20 of 22

<< First< Prev

Page of 2

Select item 81917901.

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 34134302.

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 30528813.

A Deletion Mutation in SANS Results in Atypical Usher Syndrome

Rasheeda Bashir, Amara Fatima, Sadaf Naz

Clin Genet. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Clin Genet. 2010 Dec; 78(6): 601–603. doi: 10.1111/j.1399-0004.2010.01500.x

PMCID:: PMC3052881

Article PDF–182K

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 107441085.

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 54937546.

Myosin 7 and its adaptors link cadherins to actin

I-Mei Yu, Vicente J. Planelles-Herrero, Yannick Sourigues, Dihia Moussaoui, Helena Sirkia, Carlos Kikuti, David Stroebel, Margaret A. Titus, Anne Houdusse

Nat Commun. 2017; 8: 15864. Published online 2017 Jun 29. doi: 10.1038/ncomms15864

PMCID:: PMC5493754

Abstract Article PDF–1.7M

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 28401038.

The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins

Jing Yan, Lifeng Pan, Xiuye Chen, Lin Wu, Mingjie Zhang

Proc Natl Acad Sci U S A. 2010 Mar 2; 107(9): 4040–4045. Published online 2010 Feb 8. doi: 10.1073/pnas.0911385107

PMCID:: PMC2840103

Abstract Article PDF–766K

Select item 67875599.

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 122604510.

Mutations of the Protocadherin Gene PCDH15 Cause Usher Syndrome Type 1F

Zubair M. Ahmed, Saima Riazuddin, Steve L. Bernstein, Zahoor Ahmed, Shaheen Khan, Andrew J. Griffith, Robert J. Morell, Thomas B. Friedman, Sheikh Riazuddin, Edward R. Wilcox

Am J Hum Genet. 2001 Jul; 69(1): 25–34. Published online 2001 Jun 7. doi: 10.1086/321277

PMCID:: PMC1226045

Abstract Article PDF–273K

Select item 394968711.

Massively Parallel DNA Sequencing Facilitates Diagnosis of Patients with Usher Syndrome Type 1

Hidekane Yoshimura, Satoshi Iwasaki, Shin-ya Nishio, Kozo Kumakawa, Tetsuya Tono, Yumiko Kobayashi, Hiroaki Sato, Kyoko Nagai, Kotaro Ishikawa, Tetsuo Ikezono, Yasushi Naito, Kunihiro Fukushima, Chie Oshikawa, Takashi Kimitsuki, Hiroshi Nakanishi, Shin-ichi Usami

PLoS One. 2014; 9(3): e90688. Published online 2014 Mar 11. doi: 10.1371/journal.pone.0090688

PMCID:: PMC3949687

Abstract Article PDF–204K

Select item 426337112.

A Massively Parallel Pipeline to Clone DNA Variants and Examine Molecular Phenotypes of Human Disease Mutations

Xiaomu Wei, Jishnu Das, Robert Fragoza, Jin Liang, Francisco M. Bastos de Oliveira, Hao Ran Lee, Xiujuan Wang, Matthew Mort, Peter D. Stenson, David N. Cooper, Steven M. Lipkin, Marcus B. Smolka, Haiyuan Yu

PLoS Genet. 2014 Dec; 10(12): e1004819. Published online 2014 Dec 11. doi: 10.1371/journal.pgen.1004819

PMCID:: PMC4263371

Abstract Article PDF–7.6M

Select item 603987013.

LuTHy: a double‐readout bioluminescence‐based two‐hybrid technology for quantitative mapping of protein–protein interactions in mammalian cells

Philipp Trepte, Sabrina Kruse, Simona Kostova, Sheila Hoffmann, Alexander Buntru, Anne Tempelmeier, Christopher Secker, Lisa Diez, Aline Schulz, Konrad Klockmeier, Martina Zenkner, Sabrina Golusik, Kirstin Rau, Sigrid Schnoegl, Craig C Garner, Erich E Wanker

Mol Syst Biol. 2018 Jul; 14(7): e8071. Published online 2018 Jul 11. doi: 10.15252/msb.20178071

PMCID:: PMC6039870

Abstract Article PDF–2.1M

Select item 910630314.

Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors

Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen

Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638

PMCID:: PMC9106303

Abstract Article PDF–918K

Select item 660091515.

TNF-α inhibits glucocorticoid receptor-induced gene expression by reshaping the GR nuclear cofactor profile

Karen Dendoncker, Steven Timmermans, Jolien Vandewalle, Melanie Eggermont, Joanna Lempiäinen, Evelien Van Hamme, Sylviane Dewaele, Sofie Vandevyver, Marlies Ballegeer, Jolien Souffriau, Lise Van Wyngene, Kelly Van Looveren, Tineke Vanderhaeghen, Rudi Beyaert, Karolien De Bosscher, Jorma J. Palvimo, Marc Van Montagu, Claude Libert

Proc Natl Acad Sci U S A. 2019 Jun 25; 116(26): 12942–12951. Published online 2019 Jun 10. doi: 10.1073/pnas.1821565116

Correction in:: Proc Natl Acad Sci U S A. 2019 Jul 30; 116(31): 15745.

PMCID:: PMC6600915

Abstract Article PDF–1.7M

Select item 486917016.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 674264617.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

Select item 716998318.

A reference map of the human binary protein interactome

Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood

Nature. Author manuscript; available in PMC 2020 Oct 8.

Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x

PMCID:: PMC7169983

Abstract Article PDF–5.4M

Select item 553161119.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 816503020.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 22

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity