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Items: 18

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.
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
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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
12.
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
13.
Evolutionary Genomics Reveals Lineage-Specific Gene Loss and Rapid Evolution of a Sperm-Specific Ion Channel Complex: CatSpers and CatSperβ
Xinjiang Cai, David E. Clapham
PLoS One. 2008; 3(10): e3569. Published online 2008 Oct 30. doi: 10.1371/journal.pone.0003569
PMCID:
PMC2572835
AbstractArticlePDF–595K
14.
Comparative Genomics Search for Losses of Long-Established Genes on the Human Lineage
Jingchun Zhu, J. Zachary Sanborn, Mark Diekhans, Craig B Lowe, Tom H Pringle, David Haussler
PLoS Comput Biol. 2007 Dec; 3(12): e247. Prepublished online 2007 Oct 30. Published online 2007 Dec 14. doi: 10.1371/journal.pcbi.0030247
PMCID:
PMC2134963
AbstractArticlePDF–484K
15.
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
16.
Hyperactivated sperm motility driven by CatSper2 is required for fertilization
Timothy A. Quill, Sarah A. Sugden, Kristen L. Rossi, Lynda K. Doolittle, Robert E. Hammer, David L. Garbers
Proc Natl Acad Sci U S A. 2003 Dec 9; 100(25): 14869–14874. Published online 2003 Dec 1. doi: 10.1073/pnas.2136654100
PMCID:
PMC299835
AbstractArticlePDF–437K
17.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K
18.
A voltage-gated ion channel expressed specifically in spermatozoa
Timothy A. Quill, Dejian Ren, David E. Clapham, David L. Garbers
Proc Natl Acad Sci U S A. 2001 Oct 23; 98(22): 12527–12531. doi: 10.1073/pnas.221454998
PMCID:
PMC60087
AbstractArticlePDF–789K

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