PMC Links for Nucleotide (Select 1519473545) - PMC

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Items: 14

Select item 67426461.

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 60538312.

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 60398703.

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 54937544.

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 67875595.

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 65583666.

Genetic Screening of the Usher Syndrome in Cuba

Elayne E. Santana, Carla Fuster-García, Elena Aller, Teresa Jaijo, Belén García-Bohórquez, Gema García-García, José M. Millán, Araceli Lantigua

Front Genet. 2019; 10: 501. Published online 2019 May 22. doi: 10.3389/fgene.2019.00501

PMCID:: PMC6558366

Abstract Article PDF–1.4M

Select item 58860787.

Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage

Yasmine Zerdoumi, Raphaël Lanos, Sabine Raad, Jean-Michel Flaman, Gaëlle Bougeard, Thierry Frebourg, Isabelle Tournier

Hum Mol Genet. 2017 Jul 15; 26(14): 2591–2602. Published online 2017 Mar 24. doi: 10.1093/hmg/ddx106

Correction in:: Hum Mol Genet. 2017 Jul 15; 26(14): 2812.

PMCID:: PMC5886078

Abstract Article PDF–664K

Select item 43707678.

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, Rim Zainine, Saida Lahbib, Yosra Bouyacoub, Rym Bechraoui, Jihène Marrakchi, Jean-Pierre Hardelin, Malek Louha, Leila Largueche, Salim Ben Yahia, Moncef Kheirallah, Leila Elmatri, Ghazi Besbes, Sonia Abdelhak, Christine Petit

PLoS One. 2015; 10(3): e0120584. Published online 2015 Mar 23. doi: 10.1371/journal.pone.0120584

PMCID:: PMC4370767

Abstract Article PDF–1.5M

Select item 43182529.

Ambient Vapor Samples Activate the Nrf2-ARE Pathway in Human Bronchial Epithelial BEAS-2B Cells

Yasuhiro Shinkai, Syun Nakajima, Arantza Eiguren-Fernandez, Emma Di Stefano, Debra A. Schmitz, John R. Froines, Arthur K. Cho, Yoshito Kumagai

Environ Toxicol. Author manuscript; available in PMC 2015 Feb 5.

Published in final edited form as: Environ Toxicol. 2014 Nov; 29(11): 1292–1300. Published online 2013 May 6. doi: 10.1002/tox.21860

PMCID:: PMC4318252

Abstract Article PDF–608K

Select item 428814110.

Cone Responses in Usher Syndrome Types 1 and 2 by Microvolt Electroretinography

Wadih M. Zein, Benedetto Falsini, Ekaterina T. Tsilou, Amy E. Turriff, Julie M. Schultz, Thomas B. Friedman, Carmen C. Brewer, Christopher K. Zalewski, Kelly A. King, Julie A. Muskett, Atteeq U. Rehman, Robert J. Morell, Andrew J. Griffith, Paul A. Sieving

Invest Ophthalmol Vis Sci. 2015 Jan; 56(1): 107–114. Published online 2015 Jan 6. doi: 10.1167/iovs.14-15355

PMCID:: PMC4288141

Abstract Article PDF–695K

Select item 424576911.

Targeted next generation sequencing for molecular diagnosis of Usher syndrome

María J Aparisi, Elena Aller, Carla Fuster-García, Gema García-García, Regina Rodrigo, Rafael P Vázquez-Manrique, Fiona Blanco-Kelly, Carmen Ayuso, Anne-Françoise Roux, Teresa Jaijo, José M Millán

Orphanet J Rare Dis. 2014; 9: 168. Published online 2014 Nov 18. doi: 10.1186/s13023-014-0168-7

PMCID:: PMC4245769

Abstract Article PDF–605K

Select item 378901512.

Functional analysis of human cancer-associated genes and their association with the testes and epididymis

XIU-FENG HUA, XUE-BO WANG, FU-JUN LIU

Oncol Lett. 2013 Sep; 6(3): 811–816. Published online 2013 Jul 8. doi: 10.3892/ol.2013.1450

PMCID:: PMC3789015

Abstract Article PDF–313K

Select item 341343013.

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.