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Select item 91068381.

Pediatric Gastrointestinal Histopathology in Patients with Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency and Congenital Enteropathy

Katelyn Dannheim, Jodie Ouahed, Michael Field, Scott Snapper, Bram P. Raphael, Sarah C. Glover, Phyllis R. Bishop, Natalie Bhesania, Daniel Kamin, Jay R. Thiagarajah, Jeffrey D. Goldsmith

Am J Surg Pathol. Author manuscript; available in PMC 2023 Jun 1.

Published in final edited form as: Am J Surg Pathol. 2022 Jun 1; 46(6): 846–853. Published online 2022 Jan 5. doi: 10.1097/PAS.0000000000001856

PMCID:: PMC9106838

Abstract Article PDF–3.9M

Select item 87146642.

A Novel Homozygous TTC7A Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency

Wenjun Mou, Shen Yang, Ruolan Guo, Libing Fu, Li Zhang, Weihong Guo, Jingbin Du, Jianxin He, Qinghua Ren, Chanjuan Hao, Jingang Gui, Jinshi Huang

Front Immunol. 2021; 12: 759308. Published online 2021 Dec 15. doi: 10.3389/fimmu.2021.759308

PMCID:: PMC8714664

Abstract Article PDF–10M

Select item 64060793.

TTC7A: Steward of Intestinal Health

Sasha Jardine, Neel Dhingani, Aleixo M. Muise

Cell Mol Gastroenterol Hepatol. 2019; 7(3): 555–570. Published online 2018 Dec 13. doi: 10.1016/j.jcmgh.2018.12.001

PMCID:: PMC6406079

Abstract Article PDF–2.0M

Select item 43757184.

Hypomorphic mutation in TTC7A causes combined immunodeficiency with mild structural intestinal defects

Stavroula Woutsas, Caner Aytekin, Elisabeth Salzer, Cecilia Domínguez Conde, Sema Apaydin, Herbert Pichler, Nima Memaran-Dadgar, Ferda Ozbay Hosnut, Elisabeth Förster-Waldl, Susanne Matthes, Wolf-Dietrich Huber, Thomas Lion, Wolfgang Holter, Ivan Bilic, Kaan Boztug

Blood. 2015 Mar 5; 125(10): 1674–1676. doi: 10.1182/blood-2014-08-595397

PMCID:: PMC4375718

Article

Select item 38712475.

TTC7A mutations disrupt intestinal epithelial apicobasal polarity

Amélie E. Bigorgne, Henner F. Farin, Roxane Lemoine, Nizar Mahlaoui, Nathalie Lambert, Marine Gil, Ansgar Schulz, Pierre Philippet, Patrick Schlesser, Tore G. Abrahamsen, Knut Oymar, E. Graham Davies, Christian Lycke Ellingsen, Emmanuelle Leteurtre, Brigitte Moreau-Massart, Dominique Berrebi, Christine Bole-Feysot, Patrick Nischke, Nicole Brousse, Alain Fischer, Hans Clevers, Geneviève de Saint Basile

J Clin Invest. 2014 Jan 2; 124(1): 328–337. Published online 2013 Dec 2. doi: 10.1172/JCI71471

PMCID:: PMC3871247

Abstract Article PDF–4.3M

Select item 37596186.

Whole Exome Sequencing Identifies TTC7A Mutations for Combined Immunodeficiency with Intestinal Atresias

Rui Chen, Silvia Giliani, Gaetana Lanzi, George I. Mias, Silvia Lonardi, Kerry Dobbs, John Manis, Hogune Im, Jennifer E. Gallagher, Douglas H. Phanstiel, Ghia Euskirchen, Philippe Lacroute, Keith Bettinger, Daniele Moratto, Katja Weinacht, Davide Montin, Eleonora Gallo, Giovanna Mangili, Fulvio Porta, Lucia D. Notarangelo, Stefania Pedretti, Waleed Al-Herz, Wasmi Alfahdli, Anne Marie Comeau, Russell S Traister, Sung-Yun Pai, Graziella Carella, Fabio Facchetti, Kari C. Nadeau, Michael Snyder, Luigi D. Notarangelo

J Allergy Clin Immunol. Author manuscript; available in PMC 2014 Sep 1.

Published in final edited form as: J Allergy Clin Immunol. 2013 Sep; 132(3): 656–664.e17. Published online 2013 Jul 4. doi: 10.1016/j.jaci.2013.06.013

PMCID:: PMC3759618

Abstract Article PDF–1.8M

Select item 36258237.

Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

Mark E Samuels, Jacek Majewski, Najmeh Alirezaie, Isabel Fernandez, Ferran Casals, Natalie Patey, Hélène Decaluwe, Isabelle Gosselin, Elie Haddad, Alan Hodgkinson, Youssef Idaghdour, Valerie Marchand, Jacques L Michaud, Marc-André Rodrigue, Sylvie Desjardins, Stéphane Dubois, Francoise Le Deist, Philip Awadalla, Vincent Raymond, Bruno Maranda

J Med Genet. 2013 May; 50(5): 324–329. Published online 2013 Feb 19. doi: 10.1136/jmedgenet-2012-101483

PMCID:: PMC3625823

Abstract Article PDF–254K

Select item 75960668.

The E3 ubiquitin ligase UBR5 interacts with TTC7A and may be associated with very early onset inflammatory bowel disease

Neel Dhingani, Conghui Guo, Jie Pan, Qi Li, Neil Warner, Sasha Jardine, Gabriella Leung, Daniel Kotlarz, Claudia Gonzaga-Jauregui, Christoph Klein, Scott B. Snapper, Víctor Manuel Navas-López, Aleixo M. Muise

Sci Rep. 2020; 10: 18648. Published online 2020 Oct 29. doi: 10.1038/s41598-020-73482-6

PMCID:: PMC7596066

Abstract Article PDF–6.1M

Select item 40026569.

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

Yaron Avitzur, Conghui Guo, Lucas A Mastropaolo, Ehsan Bahrami, Hannah Chen, Zhen Zhao, Abdul Elkadri, Sandeep Dhillon, Ryan Murchie, Ramzi Fattouh, Hien Huynh, Jennifer L Walker, Paul W Wales, Ernest Cutz, Yoichi Kakuta, Joel Dudley, Jochen Kammermeier, Fiona Powrie, Neil Shah, Christoph Walz, Michaela Nathrath, Daniel Kotlarz, Jacek Puchaka, John Krieger, Tomas Racek, Thomas Kirchner, Thomas D Walters, John H Brumell, Anne M Griffiths, Nima Rezaei, Parisa Rashtian, Mehri Najafi, Maryam Monajemzadeh, Stephen Pelsue, Dermot PB McGovern, Holm H Uhlig, Eric Schadt, Christoph Klein, Scott B Snapper, Aleixo M Muise

Gastroenterology. Author manuscript; available in PMC 2015 Apr 1.

Published in final edited form as: Gastroenterology. 2014 Apr; 146(4): 1028–1039. Published online 2014 Jan 11. doi: 10.1053/j.gastro.2014.01.015

PMCID:: PMC4002656

Abstract Article PDF–1.8M

Select item 351822410.

PtdIns4P synthesis by PI4KIIIα at the plasma membrane and its impact on plasma membrane identity

Fubito Nakatsu, Jeremy M. Baskin, Jeeyun Chung, Lukas B. Tanner, Guanghou Shui, Sang Yoon Lee, Michelle Pirruccello, Mingming Hao, Nicholas T. Ingolia, Markus R. Wenk, Pietro De Camilli

J Cell Biol. 2012 Dec 10; 199(6): 1003–1016. doi: 10.1083/jcb.201206095

PMCID:: PMC3518224

Abstract Article PDF–3.4M

Select item 299143111.

Genome Wide Association Study to Identify Single Nucleotide Polymorphisms (SNPs) Associated with the Development of Erectile Dysfunction in African-American Men Following Radiotherapy for Prostate Cancer

Sarah L. Kerns, Harry Ostrer, Richard Stock, William Li, Julian Moore, Alexander Pearlman, Christopher Campbell, Yongzhao Shao, Nelson Stone, Lynda Kusnetz, Barry S. Rosenstein

Int J Radiat Oncol Biol Phys. Author manuscript; available in PMC 2011 Dec 1.

Published in final edited form as: Int J Radiat Oncol Biol Phys. 2010 Dec 1; 78(5): 1292–1300. doi: 10.1016/j.ijrobp.2010.07.036

PMCID:: PMC2991431

Abstract Article PDF–966K

Select item 314288712.

Genetic variants at CD28, PRDM1, and CD2/CD58 are associated with rheumatoid arthritis risk

Soumya Raychaudhuri, Brian P. Thomson, Elaine F. Remmers, Stephen Eyre, Anne Hinks, Candace Guiducci, Joseph J. Catanese, Gang Xie, Eli A. Stahl, Robert Chen, Lars Alfredsson, Christopher I. Amos, Kristin G. Ardlie, BIRAC Consortium, Anne Barton, John Bowes, Noel P. Burtt, Monica Chang, Jonathan Coblyn, Karen H. Costenbader, Lindsey A. Criswell, J. Bart A. Crusius, Jing Cui, Phillip L. De Jager, Bo Ding, Paul Emery, Edward Flynn, Pille Harrison, Lynne J. Hocking, Tom W. J. Huizinga, Daniel L. Kastner, Xiayi Ke, Fina A. S. Kurreeman, Annette T. Lee, Xiangdong Liu, Yonghong Li, Paul Martin, Ann W. Morgan, Leonid Padyukov, David M. Reid, Mark Seielstad, Michael F. Seldin, Nancy A. Shadick, Sophia Steer, Paul P. Tak, Wendy Thomson, Annette H. M. van der Helm-van Mil, Irene E. van der Horst-Bruinsma, Michael E. Weinblatt, Anthony G. Wilson, Gert Jan Wolbink, Paul Wordsworth, YEAR Consortium, David Altshuler, Elizabeth W. Karlson, Rene E. M. Toes, Niek de Vries, Ann B. Begovich, Katherine A. Siminovitch, Jane Worthington, Lars Klareskog, Peter K. Gregersen, Mark J. Daly, Robert M. Plenge

Nat Genet. Author manuscript; available in PMC 2011 Jul 25.

Published in final edited form as: Nat Genet. 2009 Dec; 41(12): 1313–1318. Published online 2009 Nov 8. doi: 10.1038/ng.479

PMCID:: PMC3142887

Abstract Article PDF–751K

Select item 952752013.

EGFR suppresses p53 function by promoting p53 binding to DNA-PKcs: a noncanonical regulatory axis between EGFR and wild-type p53 in glioblastoma

Jie Ding, Xiaolong Li, Sabbir Khan, Chen Zhang, Feng Gao, Shayak Sen, Amanda R Wasylishen, Yang Zhao, Guillermina Lozano, Dimpy Koul, W K Alfred Yung

Neuro Oncol. 2022 Oct; 24(10): 1712–1725. Published online 2022 Apr 26. doi: 10.1093/neuonc/noac105

PMCID:: PMC9527520

Abstract Article PDF–12M

Select item 284229814.

Genome-Wide Association of Lipid-Lowering Response to Statins in Combined Study Populations

Mathew J. Barber, Lara M. Mangravite, Craig L. Hyde, Daniel I. Chasman, Joshua D. Smith, Catherine A. McCarty, Xiaohui Li, Russell A. Wilke, Mark J. Rieder, Paul T. Williams, Paul M. Ridker, Aurobindo Chatterjee, Jerome I. Rotter, Deborah A. Nickerson, Matthew Stephens, Ronald M. Krauss

PLoS One. 2010; 5(3): e9763. Published online 2010 Mar 22. doi: 10.1371/journal.pone.0009763

PMCID:: PMC2842298

Abstract Article PDF–162K

Select item 387065915.

HIV-1 gp120 impairs B cell proliferation by inducing TGF-ß1 production and FcRL4 expression

Katija Jelicic, Raffaello Cimbro, Fatima Nawaz, Da Wei Huang, Xin Zheng, Jun Yang, Richard A. Lempicki, Massimiliano Pascuccio, Donald Van Ryk, Catherine Schwing, Joseph Hiatt, Noreen Okwara, Danlan Wei, Gregg Roby, Antonio David, Young Hwang, II, John H. Kehrl, James Arthos, Claudia Cicala, Anthony S. Fauci

Nat Immunol. Author manuscript; available in PMC 2014 Jun 1.

Published in final edited form as: Nat Immunol. 2013 Dec; 14(12): 1256–1265. Published online 2013 Oct 27. doi: 10.1038/ni.2746

PMCID:: PMC3870659

Abstract Article PDF–1.4M

Select item 791045916.

Combinatorial CRISPR screen identifies fitness effects of gene paralogues

Nicola A. Thompson, Marco Ranzani, Louise van der Weyden, Vivek Iyer, Victoria Offord, Alastair Droop, Fiona Behan, Emanuel Gonçalves, Anneliese Speak, Francesco Iorio, James Hewinson, Victoria Harle, Holly Robertson, Elizabeth Anderson, Beiyuan Fu, Fengtang Yang, Guido Zagnoli-Vieira, Phil Chapman, Martin Del Castillo Velasco-Herrera, Mathew J. Garnett, Stephen P. Jackson, David J. Adams

Nat Commun. 2021; 12: 1302. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21478-9

PMCID:: PMC7910459

Abstract Article PDF–3.3M

Select item 599379717.

Interactome analyses revealed that the U1 snRNP machinery overlaps extensively with the RNAP II machinery and contains multiple ALS/SMA-causative proteins

Binkai Chi, Jeremy D. O’Connell, Tomohiro Yamazaki, Jaya Gangopadhyay, Steven P. Gygi, Robin Reed

Sci Rep. 2018; 8: 8755. Published online 2018 Jun 8. doi: 10.1038/s41598-018-27136-3

PMCID:: PMC5993797

Abstract Article PDF–2.9M

Select item 831454718.

SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation

Ruona Shi, Xue Shi, Dajiang Qin, Shibing Tang, Michiel Vermeulen, Xiaofei Zhang

Cell Biosci. 2021; 11: 146. Published online 2021 Jul 27. doi: 10.1186/s13578-021-00659-5

PMCID:: PMC8314547

Abstract Article PDF–3.7M

Select item 885704919.

Tau interactome maps synaptic and mitochondrial processes associated with neurodegeneration

Tara E. Tracy, Jesus Madero-Pérez, Danielle L. Swaney, Timothy S. Chang, Michelle Moritz, Csaba Konrad, Michael E. Ward, Erica Stevenson, Ruth Hüttenhain, Grant Kauwe, Maria Mercedes, Lauren Sweetland-Martin, Xu Chen, Sue-Ann Mok, Man Ying Wong, Maria Telpoukhovskaia, Sang-Won Min, Chao Wang, Peter Dongmin Sohn, Jordie Martin, Yungui Zhou, Wenjie Luo, John Q. Trojanowski, Virginia M.Y. Lee, Shiaoching Gong, Giovanni Manfredi, Giovanni Coppola, Nevan J. Krogan, Daniel H. Geschwind, Li Gan

Cell. Author manuscript; available in PMC 2022 Feb 19.

Published in final edited form as: Cell. 2022 Feb 17; 185(4): 712–728.e14. Published online 2022 Jan 20. doi: 10.1016/j.cell.2021.12.041

PMCID:: PMC8857049

Abstract Article PDF–3.6M

Select item 497239720.

E-cadherin interactome complexity and robustness resolved by quantitative proteomics

Zhenhuan Guo, Lisa J Neilson, Hang Zhong, Paul S Murray, Megha Vaman Rao, Sara Zanivan, Ronen Zaidel-Bar

Sci Signal. Author manuscript; available in PMC 2016 Aug 3.

Published in final edited form as: Sci Signal. 2014 Dec 2; 7(354): rs7. Published online 2014 Dec 2. doi: 10.1126/scisignal.2005473

PMCID:: PMC4972397

Abstract Article PDF–3.1M

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