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Items: 1 to 20 of 26

1.
Dispersed DNA variants underlie hearing loss in South Florida’s minority population
LéShon Peart, Joanna Gonzalez, Dayna Morel Swols, Duygu Duman, Turcin Saridogan, Memoona Ramzan, Mohammad Faraz Zafeer, Xue Zhong Liu, Adrien A. Eshraghi, Michael E. Hoffer, Simon I. Angeli, Guney Bademci, Susan Blanton, Carson Smith, Fred F. Telischi, Mustafa Tekin
Hum Genomics. 2023; 17: 103. Published online 2023 Nov 24. doi: 10.1186/s40246-023-00556-7
PMCID:
PMC10668374
AbstractArticlePDF–1.3M
2.
A proteome-scale map of the SARS-CoV-2–human contactome
Dae-Kyum Kim, Benjamin Weller, Chung-Wen Lin, Dayag Sheykhkarimli, Jennifer J. Knapp, Guillaume Dugied, Andreas Zanzoni, Carles Pons, Marie J. Tofaute, Sibusiso B. Maseko, Kerstin Spirohn, Florent Laval, Luke Lambourne, Nishka Kishore, Ashyad Rayhan, Mayra Sauer, Veronika Young, Hridi Halder, Nora Marín-de la Rosa, Oxana Pogoutse, Alexandra Strobel, Patrick Schwehn, Roujia Li, Simin T. Rothballer, Melina Altmann, Patricia Cassonnet, Atina G. Coté, Lena Elorduy Vergara, Isaiah Hazelwood, Betty B. Liu, Maria Nguyen, Ramakrishnan Pandiarajan, Bushra Dohai, Patricia A. Rodriguez Coloma, Juline Poirson, Paolo Giuliana, Luc Willems, Mikko Taipale, Yves Jacob, Tong Hao, David E. Hill, Christine Brun, Jean-Claude Twizere, Daniel Krappmann, Matthias Heinig, Claudia Falter, Patrick Aloy, Caroline Demeret, Marc Vidal, Michael A. Calderwood, Frederick P. Roth, Pascal Falter-Braun
Nat Biotechnol. 2023; 41(1): 140–149. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01475-z
PMCID:
PMC9849141
AbstractArticlePDF–7.1M
3.
Frequency of the STRC-CATSPER2 deletion in STRC-associated hearing loss patients
Shin-ya Nishio, Shin-ichi Usami
Sci Rep. 2022; 12: 634. Published online 2022 Jan 12. doi: 10.1038/s41598-021-04688-5
PMCID:
PMC8755823
AbstractArticlePDF–1.2M
4.
Benefits of Exome Sequencing in Children with Suspected Isolated Hearing Loss
Roxane Van Heurck, Maria Teresa Carminho-Rodrigues, Emmanuelle Ranza, Caterina Stafuzza, Lina Quteineh, Corinne Gehrig, Eva Hammar, Michel Guipponi, Marc Abramowicz, Pascal Senn, Nils Guinand, Helene Cao-Van, Ariane Paoloni-Giacobino
Genes (Basel) 2021 Aug; 12(8): 1277. Published online 2021 Aug 20. doi: 10.3390/genes12081277
PMCID:
PMC8391342
AbstractArticlePDF–1.2M
5.
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
AbstractArticlePDF–2.2M
6.
Prenatal cytogenomic identification and molecular refinement of compound heterozygous STRC deletion breakpoints
Lisong Shi, Yan Bai, Yara Kharbutli, Andrea M. Oza, Sami S. Amr, Lisa Edelmann, Lakshmi Mehta, Stuart A. Scott
Mol Genet Genomic Med. 2019 Aug; 7(8): e806. Published online 2019 Jun 19. doi: 10.1002/mgg3.806
PMCID:
PMC6687617
AbstractArticlePDF–591K
7.
Frequency and clinical features of hearing loss caused by STRC deletions
Yoh Yokota, Hideaki Moteki, Shin-ya Nishio, Tomomi Yamaguchi, Keiko Wakui, Yumiko Kobayashi, Kenji Ohyama, Hiromitsu Miyazaki, Rina Matsuoka, Satoko Abe, Kozo Kumakawa, Masahiro Takahashi, Hirofumi Sakaguchi, Natsumi Uehara, Takashi Ishino, Tomoki Kosho, Yoshimitsu Fukushima, Shin-ichi Usami
Sci Rep. 2019; 9: 4408. Published online 2019 Mar 13. doi: 10.1038/s41598-019-40586-7
PMCID:
PMC6416315
AbstractArticlePDF–2.0M
8.
Stereocilin gene variants associated with episodic vertigo: expansion of the DFNB16 phenotype
Carina Frykholm, Joakim Klar, Tatjana Tomanovic, Adam Ameur, Niklas Dahl
Eur J Hum Genet. 2018 Dec; 26(12): 1871–1874. Published online 2018 Sep 24. doi: 10.1038/s41431-018-0256-6
PMCID:
PMC6244415
AbstractArticlePDF–729K
9.
Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy
Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115
PMCID:
PMC6077722
AbstractArticlePDF–2.4M
10.
Detection and confirmation of deafness-causing copy number variations in the STRC gene by massively parallel sequencing and comparative genomic hybridization
Hideaki Moteki, Hela Azaiez, Christina M Sloan-Heggen, Kevin Booth, Shin-ya Nishio, Keiko Wakui, Tomomi Yamaguchi, Diana L Kolbe, Yoh-ichiro Iwasa, A Eliot Shearer, Yoshimitsu Fukushima, Richard JH Smith, Shin-ichi Usami
Ann Otol Rhinol Laryngol. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Ann Otol Rhinol Laryngol. 2016 Nov; 125(11): 918–923. Published online 2016 Jul 28. doi: 10.1177/0003489416661345
PMCID:
PMC5537730
AbstractArticlePDF–417K
11.
Maternal Uniparental Disomy of Chromosome 15 and Concomitant STRC and CATSPER2 Deletion-Mediated Deafness-Infertility Syndrome
Lisa Karger, Wahab A. Khan, Rafaela Calabio, Ram Singh, Bixia Xiang, Arvind Babu, Ninette Cohen, Amy Yang, Stuart A. Scott
Am J Med Genet A. Author manuscript; available in PMC 2018 May 1.
Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1436–1439. Published online 2017 Mar 20. doi: 10.1002/ajmg.a.38154
PMCID:
PMC5397338
ArticlePDF–158K
12.
hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes
Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal
Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012
PMCID:
PMC4647941
AbstractArticle
13.
DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics
B Vona, MAH Hofrichter, C Neuner, J Schröder, A Gehrig, JB Hennermann, F Kraus, W Shehata-Dieler, E Klopocki, I Nanda, T Haaf
Clin Genet. 2015 Jan; 87(1): 49–55. Published online 2014 Jan 21. doi: 10.1111/cge.12332
PMCID:
PMC4302246
AbstractArticlePDF–1.5M
14.
Levels of Tektin 2 and CatSper 2 in normozoospermic and oligoasthenozoospermic men and its association with motility, fertilization rate, embryo quality and pregnancy rate
Rashmi Bhilawadikar, Kusum Zaveri, Leena Mukadam, Shilpa Naik, Ketan Kamble, Deepak Modi, Indira Hinduja
J Assist Reprod Genet. 2013 Apr; 30(4): 513–523. Published online 2013 Mar 22. doi: 10.1007/s10815-013-9972-6
PMCID:
PMC3644123
AbstractArticlePDF–387K
15.
Genome-wide SNP Genotyping Identifies the Stereocilin (STRC) Gene as a Major Contributor to Pediatric Bilateral Sensorineural Hearing Impairment
Lauren J Francey, Laura K Conlin, Hanna E Kadesch, Dinah Clark, Donna Berrodin, Yi Sun, Joe Glessner, Hakon Hakonarson, Chaim Jalas, Chaim Landau, Nancy B Spinner, Margaret Kenna, Michal Sagi, Heidi L Rehm, Ian D Krantz
Am J Med Genet A. Author manuscript; available in PMC 2013 Feb 1.
Published in final edited form as: Am J Med Genet A. 2012 Feb; 158A(2): 298–308. Published online 2011 Dec 6. doi: 10.1002/ajmg.a.34391
PMCID:
PMC3264741
AbstractArticlePDF–1.8M
16.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
17.
Genetic male infertility and mutation of CATSPER ion channels
Michael S Hildebrand, Matthew R Avenarius, Marc Fellous, Yuzhou Zhang, Nicole C Meyer, Jana Auer, Catherine Serres, Kimia Kahrizi, Hossein Najmabadi, Jacques S Beckmann, Richard J H Smith
Eur J Hum Genet. 2010 Nov; 18(11): 1178–1184. Published online 2010 Jul 21. doi: 10.1038/ejhg.2010.108
PMCID:
PMC2987470
AbstractArticlePDF–374K
18.
Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score
Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl
Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159
Correction in:
Mol Med. 2012; 18(1): 729.
PMCID:
PMC2896464
AbstractArticlePDF–2.4M
19.
Sensorineural deafness and male infertility: a contiguous gene deletion syndrome
Yuzhou Zhang, Mahdi Malekpour, Navid Al‐Madani, Kimia Kahrizi, Marvam Zanganeh, Marzieh Mohseni, Faezeh Mojahedi, Ahmad Daneshi, Hossein Najmabadi, Richard J H Smith
J Med Genet. 2007 Apr; 44(4): 233–240. Published online 2006 Nov 10. doi: 10.1136/jmg.2006.045765
Correction in:
J Med Genet. 2007 Aug; 44(8): 544.
PMCID:
PMC2598039
AbstractArticlePDF–642K
20.
Prominent use of distal 5′ transcription start sites and discovery of a large number of additional exons in ENCODE regions
France Denoeud, Philipp Kapranov, Catherine Ucla, Adam Frankish, Robert Castelo, Jorg Drenkow, Julien Lagarde, Tyler Alioto, Caroline Manzano, Jacqueline Chrast, Sujit Dike, Carine Wyss, Charlotte N. Henrichsen, Nancy Holroyd, Mark C. Dickson, Ruth Taylor, Zahra Hance, Sylvain Foissac, Richard M. Myers, Jane Rogers, Tim Hubbard, Jennifer Harrow, Roderic Guigó, Thomas R. Gingeras, Stylianos E. Antonarakis, Alexandre Reymond
Genome Res. 2007 Jun; 17(6): 746–759. doi: 10.1101/gr.5660607
PMCID:
PMC1891335
AbstractArticlePDF–1.2M

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