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Items: 13

1.
Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea
C. Poulton, G. Pathak, K. Mina, T. Lassman, D.N. Azmanov, E. McCormack, S. Broley, L. Dreyer, D. Gration, E. Taylor, M. OSullivan, A. Siafarikis, M. Ravikumara, H. Dawkins, N. Pachter, G. Baynam
Gene. Author manuscript; available in PMC 2021 Feb 9.
Published in final edited form as: Gene. 2019 May 30; 699: 110–114. Published online 2019 Mar 4. doi: 10.1016/j.gene.2019.02.059
PMCID:
PMC7872052
AbstractArticlePDF–427K
2.
Case Report: Novel Compound-Heterozygous Variants of SKIV2L Gene that Cause Trichohepatoenteric Syndrome 2
Qiao Zhang, Xia Qian, Jianli Zhou, Lin Han, Shaoming Zhou, Zhaoxia Wang
Front Genet. 2021; 12: 756451. Published online 2021 Oct 6. doi: 10.3389/fgene.2021.756451
PMCID:
PMC8527088
AbstractArticlePDF–1.3M
3.
The mammalian SKIV2L RNA exosome is essential for early B cell development
Kun Yang, Jie Han, Jennifer G. Gill, Jason Y. Park, Meghana N. Sathe, Jyothsna Gattineni, Tracey Wright, Christian Wysocki, M. Teresa de la Morena, Nan Yan
Sci Immunol. Author manuscript; available in PMC 2022 Aug 14.
Published in final edited form as: Sci Immunol. 2022 Jun 3; 7(72): eabn2888. Published online 2022 Jun 3. doi: 10.1126/sciimmunol.abn2888
PMCID:
PMC9376044
AbstractArticlePDF–2.1M
4.
UNC45A deficiency causes microvillus inclusion disease–like phenotype by impairing myosin VB–dependent apical trafficking
Rémi Duclaux-Loras, Corinne Lebreton, Jérémy Berthelet, Fabienne Charbit-Henrion, Ophelie Nicolle, Céline Revenu des Courtils, Stephanie Waich, Taras Valovka, Anis Khiat, Marion Rabant, Caroline Racine, Ida Chiara Guerrera, Júlia Baptista, Maxime M. Mahe, Michael W. Hess, Béatrice Durel, Nathalie Lefort, Céline Banal, Mélanie Parisot, Cecile Talbotec, Florence Lacaille, Emmanuelle Ecochard-Dugelay, Arzu Meltem Demir, Georg F. Vogel, Laurence Faivre, Astor Rodrigues, Darren Fowler, Andreas R. Janecke, Thomas Müller, Lukas A. Huber, Fernando Rodrigues-Lima, Frank M. Ruemmele, Holm H. Uhlig, Filippo Del Bene, Grégoire Michaux, Nadine Cerf-Bensussan, Marianna Parlato
J Clin Invest. 2022 May 16; 132(10): e154997. Published online 2022 May 16. doi: 10.1172/JCI154997
PMCID:
PMC9106349
AbstractArticlePDF–22M
5.
Tricho-hepato-enteric syndrome: Retrospective multicenter experience in Saudi Arabia
Badr M. Alsaleem, Mohammed Hasosah, Amna Basheer M. Ahmed, Maher M. Al Hatlani, Aziz Helal Alanazi, Abdulrahman Al-Hussaini, Ali T. Asery, Khalid A. Alghamdi, Muhanad M. AlRuwaithi, Musa Ali M. Khormi, Ahmed Al Sarkhy, Ali S. Alshamrani
Saudi J Gastroenterol. 2022 Mar-Apr; 28(2): 135–142. Published online 2021 Aug 16. doi: 10.4103/sjg.sjg_200_21
PMCID:
PMC9007078
AbstractArticlePDF–716K
6.
Cytoplasmic RNA quality control failure engages mTORC1-mediated autoinflammatory disease
Kun Yang, Jie Han, Mayumi Asada, Jennifer G. Gill, Jason Y. Park, Meghana N. Sathe, Jyothsna Gattineni, Tracey Wright, Christian A. Wysocki, M. Teresa de la Morena, Luis A. Garza, Nan Yan
J Clin Invest. 2022 Jan 18; 132(2): e146176. Published online 2022 Jan 18. doi: 10.1172/JCI146176
PMCID:
PMC8759780
AbstractArticlePDF–20M
7.
Sensing of RNA stress by mTORC1 drives autoinflammation
Min Ae Lee-Kirsch
J Clin Invest. 2022 Jan 18; 132(2): e156119. Published online 2022 Jan 18. doi: 10.1172/JCI156119
PMCID:
PMC8759772
AbstractArticlePDF–342K
8.
Genetic and Structural Analysis of a SKIV2L Mutation Causing Tricho-hepato-enteric Syndrome
Iddo Vardi, Ortal Barel, Michal Sperber, Michael Schvimer, Moran Nunberg, Michael Field, Jodie Ouahed, Dina Marek-Yagel, Lael Werner, Yael Haberman, Avishay Lahad, Yair Anikster, Gideon Rechavi, Iris Barshack, Joshua J. McElwee, Joseph Maranville, Raz Somech, Scott B. Snapper, Batia Weiss, Dror S. Shouval
Dig Dis Sci. Author manuscript; available in PMC 2019 May 1.
Published in final edited form as: Dig Dis Sci. 2018 May; 63(5): 1192–1199. Published online 2018 Feb 26. doi: 10.1007/s10620-018-4983-x
PMCID:
PMC6167312
AbstractArticlePDF–728K
9.
The RNA exosome and RNA exosome-linked disease
Derrick J. Morton, Emily G. Kuiper, Stephanie K. Jones, Sara W. Leung, Anita H. Corbett, Milo B. Fasken
RNA. 2018 Feb; 24(2): 127–142. doi: 10.1261/rna.064626.117
PMCID:
PMC5769741
AbstractArticlePDF–18M
10.
Tricho-hepato-enteric syndrome with novel SKIV2L gene mutations: A case report
Eitaro Hiejima, Takahiro Yasumi, Hiroshi Nakase, Minoru Matsuura, Yusuke Honzawa, Hirokazu Higuchi, Ikuo Okafuji, Tohru Yorifuji, Takayuki Tanaka, Kazushi Izawa, Tomoki Kawai, Ryuta Nishikomori, Toshio Heike
Medicine (Baltimore) 2017 Nov; 96(46): e8601. Published online 2017 Nov 17. doi: 10.1097/MD.0000000000008601
PMCID:
PMC5704822
AbstractArticlePDF–26M
11.
Identifying Mutations of the Tetratricopeptide Repeat Domain 37 (TTC37) Gene in Infants With Intractable Diarrhea and a Comparison of Asian and Non-Asian Phenotype and Genotype: A Global Case-report Study of a Well-Defined Syndrome With Immunodeficiency
Wen-I Lee, Jing-Long Huang, Chien-Chang Chen, Ju-Li Lin, Ren-Chin Wu, Tang-Her Jaing, Liang-Shiou Ou
Medicine (Baltimore) 2016 Mar; 95(9): e2918. Published online 2016 Mar 7. doi: 10.1097/MD.0000000000002918
PMCID:
PMC4782876
AbstractArticlePDF–745K
12.
Syndromic diarrhea/Tricho-hepato-enteric syndrome
Alexandre Fabre, Christine Martinez-Vinson, Olivier Goulet, Catherine Badens
Orphanet J Rare Dis. 2013; 8: 5. Published online 2013 Jan 9. doi: 10.1186/1750-1172-8-5
PMCID:
PMC3560276
AbstractArticlePDF–2.5M
13.
MUTATIONS IN TTC37 CAUSE TRICHOHEPATOENTERIC SYNDROME (PHENOTYPIC DIARRHOEA OF INFANCY)
Jane Louise Hartley, Nicholas C. Zachos, Ban Dawood, Mark Donowitz, Julia Forman, Rodney J Pollitt, Neil V Morgan, Louise Tee, Paul Gissen, Walter H.A. Kahr, A.S. Knisely, Steve Watson, David Chitayat, IW Booth, Sue Protheroe, Stephen Murphy, Esther de Vries, Deirdre A Kelly, Eamonn R Maher
Gastroenterology. Author manuscript; available in PMC 2011 Sep 5.
Published in final edited form as: Gastroenterology. 2010 Jun; 138(7): 2388–2398.e2. Published online 2010 Feb 20. doi: 10.1053/j.gastro.2010.02.010
PMCID:
PMC3166659
AbstractArticlePDF–1.2M

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