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Items: 18

1.
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel
PLoS One. 2021; 16(10): e0258777. Published online 2021 Oct 20. doi: 10.1371/journal.pone.0258777
PMCID:
PMC8528321
AbstractArticlePDF–2.0M
2.
Identification of a novel missense mutation in NIPAL4 gene: First 3D model construction predicted its pathogenicity
Sahar Laadhar, Riadh Ben Mansour, Slaheddine Marrakchi, Nabil Miled, Mariem Ennouri, Judith Fischer, Mohamed Ali Kaddechi, Hamida Turki, Faiza Fakhfakh
Mol Genet Genomic Med. 2020 Mar; 8(3): e1104. Published online 2019 Dec 26. doi: 10.1002/mgg3.1104
PMCID:
PMC7057103
AbstractArticlePDF–957K
3.
Cellular and Metabolic Basis for the Ichthyotic Phenotype in NIPAL4 (Ichthyin)–Deficient Canines
Elizabeth A. Mauldin, Debra Crumrine, Margret L. Casal, Sekyoo Jeong, Lukáš Opálka, Katerina Vavrova, Yoshikazu Uchida, Kyungho Park, Brittany Craiglow, Keith A. Choate, Kyong-Oh Shin, Yong-Moon Lee, Gary L. Grove, Joan S. Wakefield, Denis Khnykin, Peter M. Elias
Am J Pathol. 2018 Jun; 188(6): 1419–1429. doi: 10.1016/j.ajpath.2018.02.008
PMCID:
PMC5971224
AbstractArticle
4.
NIPAL4/Ichthyin Is Expressed in the Granular Layer of Human Epidermis and Mutated in Two Pakistani Families with Autosomal Recessive Ichthyosis
Muhammad Wajid, Mazen Kurban, Yutaka Shimomura, Angela M. Christiano
Dermatology. 2010 Jan; 220(1): 8–14. Published online 2009 Dec 10. doi: 10.1159/000265757
PMCID:
PMC2855276
AbstractArticlePDF–709K
5.
Congenital ichthyosis: mutations in ichthyin are associated with specific structural abnormalities in the granular layer of epidermis
J Dahlqvist, J Klar, I Hausser, I Anton‐Lamprecht, M Hellström Pigg, T Gedde‐Dahl, Jr, A Gånemo, A Vahlquist, N Dahl
J Med Genet. 2007 Oct; 44(10): 615–620. Published online 2007 Jun 8. doi: 10.1136/jmg.2007.050542
PMCID:
PMC2597970
AbstractArticlePDF–910K
6.
A genome-wide CRISPR screen identifies genes critical for resistance to FLT3 inhibitor AC220
Panpan Hou, Chao Wu, Yuchen Wang, Rui Qi, Dheeraj Bhavanasi, Zhixiang Zuo, Cedric Dos Santos, Shuliang Chen, Yu Chen, Hong Zheng, Hong Wang, Alexander Perl, Deyin Guo, Jian Huang
Cancer Res. Author manuscript; available in PMC 2018 Aug 15.
Published in final edited form as: Cancer Res. 2017 Aug 15; 77(16): 4402–4413. Published online 2017 Jun 16. doi: 10.1158/0008-5472.CAN-16-1627
PMCID:
PMC5559306
AbstractArticlePDF–885K
7.
Polymorphisms in innate immunity genes and risk of childhood leukemia
Sohee Han, Qing Lan, Ae Kyung Park, Kyoung-Mu Lee, Sue K. Park, Hyo Seop Ahn, Hee Young Shin, Hyoung Jin Kang, Hong Hoe Koo, Jong Jin Seo, Ji Eun Choi, Yoon-Ok Ahn, Stephen J. Chanock, Ho Kim, Nathaniel Rothman, Daehee Kang
Hum Immunol. Author manuscript; available in PMC 2010 Nov 2.
Published in final edited form as: Hum Immunol. 2010 Jul; 71(7): 727–730. Published online 2010 May 16. doi: 10.1016/j.humimm.2010.04.004
PMCID:
PMC2967770
AbstractArticlePDF–306K
8.
Risk of Meningioma and Common Variation in Genes related to Innate Immunity
Preetha Rajaraman, Alina V. Brenner, Gila Neta, Ruth Pfeiffer, Sophia S. Wang, Meredith Yeager, Gilles Thomas, Howard A. Fine, Martha S. Linet, Nathaniel Rothman, Stephen J. Chanock, Peter D. Inskip
Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2011 Sep 7.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2010 May; 19(5): 1356–1361. Published online 2010 Apr 20. doi: 10.1158/1055-9965.EPI-09-1151
PMCID:
PMC3169167
AbstractArticlePDF–61K
9.
Common Variation in Genes Related to Innate Immunity and Risk of Adult Glioma
Preetha Rajaraman, Alina V. Brenner, Mary Ann Butler, Sophia S. Wang, Ruth M. Pfeiffer, Avima M. Ruder, Martha S. Linet, Meredith Yeager, Zhaoming Wang, Nick Orr, Howard A. Fine, Deukwoo Kwon, Gilles Thomas, Nathaniel Rothman, Peter D. Inskip, Stephen J. Chanock
Cancer Epidemiol Biomarkers Prev. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Cancer Epidemiol Biomarkers Prev. 2009 May; 18(5): 1651–1658. doi: 10.1158/1055-9965.EPI-08-1041
PMCID:
PMC2771723
AbstractArticlePDF–392K
10.
Genome-wide CRISPR screening reveals genetic modifiers of mutant EGFR dependence in human NSCLC
Hao Zeng, Johnny Castillo-Cabrera, Mika Manser, Bo Lu, Zinger Yang, Vaik Strande, Damien Begue, Raffaella Zamponi, Shumei Qiu, Frederic Sigoillot, Qiong Wang, Alicia Lindeman, John S Reece-Hoyes, Carsten Russ, Debora Bonenfant, Xiaomo Jiang, Youzhen Wang, Feng Cong
eLife. 2019; 8: e50223. Published online 2019 Nov 19. doi: 10.7554/eLife.50223
PMCID:
PMC6927754
AbstractArticlePDF–5.1M
11.
Large-Scale Concatenation cDNA Sequencing
Wei Yu, Björn Andersson, Kim C. Worley, Donna M. Muzny, Yan Ding, Wen Liu, Jennifer Y. Ricafrente, Meredith A. Wentland, Greg Lennon, Richard A. Gibbs
Genome Res. 1997 Apr; 7(4): 353–358. doi: 10.1101/gr.7.4.353
PMCID:
PMC139146
AbstractArticlePDF–62K
12.
Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family
Xu Li, Kim My Tran, Kathryn E. Aziz, Alexey V. Sorokin, Junjie Chen, Wenqi Wang
Mol Cell Proteomics. 2016 Sep; 15(9): 3030–3044. Published online 2016 Jul 18. doi: 10.1074/mcp.M116.060277
PMCID:
PMC5013315
AbstractArticlePDF–3.2M
13.
EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation
Liyuan Wang, Chan Chen, Zemin Song, Honghong Wang, Minghui Ye, Donghai Wang, Wenqian Kang, Hudan Liu, Guoliang Qing
Nat Commun. 2022; 13: 12. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27609-6
PMCID:
PMC8748958
AbstractArticlePDF–3.0M
14.
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino
Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9
PMCID:
PMC6778137
AbstractArticlePDF–7.8M
15.
Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes
Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano
Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406
PMCID:
PMC1356129
AbstractArticlePDF–438K
16.
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
AbstractArticlePDF–5.4M
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.
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

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