PMC Links for Nucleotide (Select 1786000037) - PMC

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Items: 10

Select item 43220001.

Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle–Wells syndrome

Hal M. Hoffman, James L. Mueller, David H. Broide, Alan A. Wanderer, Richard D. Kolodner

Nat Genet. Author manuscript; available in PMC 2015 Feb 9.

Published in final edited form as: Nat Genet. 2001 Nov; 29(3): 301–305. doi: 10.1038/ng756

PMCID:: PMC4322000

Article PDF–1.5M

Select item 13780062.

Identification of a locus on chromosome 1q44 for familial cold urticaria.

H M Hoffman, F A Wright, D H Broide, A A Wanderer, R D Kolodner

Am J Hum Genet. 2000 May; 66(5): 1693–1698. Published online 2000 Mar 30. doi: 10.1086/302874

PMCID:: PMC1378006

Summary PDF–229K

Select item 3849803.

Chronic Infantile Neurological Cutaneous and Articular Syndrome Is Caused by Mutations in CIAS1, a Gene Highly Expressed in Polymorphonuclear Cells and Chondrocytes

Jérôme Feldmann, Anne-Marie Prieur, Pierre Quartier, Patrick Berquin, Stéphanie Certain, Elisabetta Cortis, Dominique Teillac-Hamel, Alain Fischer, Geneviève de Saint Basile

Am J Hum Genet. 2002 Jul; 71(1): 198–203. Published online 2002 May 24. doi: 10.1086/341357

Correction in:: Am J Hum Genet. 2002 Nov; 71(5): 1258.

PMCID:: PMC384980

Article PDF–233K

Select item 3791384.

New Mutations of CIAS1 That Are Responsible for Muckle-Wells Syndrome and Familial Cold Urticaria: A Novel Mutation Underlies Both Syndromes

Catherine Dodé, Nathalie Le Dû, Laurence Cuisset, Frank Letourneur, Jean-Marie Berthelot, Gérard Vaudour, Alain Meyrier, Richard A Watts, David G. I. Scott, Anne Nicholls, Brigitte Granel, Camille Frances, François Garcier, Patrick Edery, Serge Boulinguez, Jean-Paul Domergues, Marc Delpech, Gilles Grateau

Am J Hum Genet. 2002 Jun; 70(6): 1498–1506. Published online 2002 Apr 25. doi: 10.1086/340786

PMCID:: PMC379138

Article PDF–267K

Select item 66164485.

Human Schwann cells are susceptible to infection with Zika and yellow fever viruses, but not dengue virus

Gaurav Dhiman, Rachy Abraham, Diane E. Griffin

Sci Rep. 2019; 9: 9951. Published online 2019 Jul 9. doi: 10.1038/s41598-019-46389-0

PMCID:: PMC6616448

Article PDF–2.9M

Select item 52978706.

Screening of Living Kidney Donors for Genetic Diseases Using a Comprehensive Genetic Testing Strategy

C. P. Thomas, M. A. Mansilla, R. Sompallae, S. O. Mason, C. J. Nishimura, M. J. Kimble, C. A. Campbell, A. E. Kwitek, B. W. Darbro, Z. A. Stewart, R. J. H. Smith

Am J Transplant. 2017 Feb; 17(2): 401–410. Published online 2016 Aug 24. doi: 10.1111/ajt.13970

PMCID:: PMC5297870

Article PDF–172K

Select item 51468267.

Regulated necrosis-related molecule mRNA expression in humans and mice and in murine acute tissue injury and systemic autoimmunity leading to progressive organ damage, and progressive fibrosis

Mohsen Honarpisheh, Jyaysi Desai, Julian A. Marschner, Marc Weidenbusch, Maciej Lech, Volker Vielhauer, Hans-Joachim Anders, Shrikant R. Mulay

Biosci Rep. 2016 Dec; 36(6): e00425. Prepublished online 2016 Nov 3. Published online 2016 Dec 9. doi: 10.1042/BSR20160336

PMCID:: PMC5146826

Article PDF–2.0M

Select item 36751498.

Vitamin D Induces Interleukin-1β Expression: Paracrine Macrophage Epithelial Signaling Controls M. tuberculosis Infection

Mark Verway, Manuella Bouttier, Tian-Tian Wang, Marilyn Carrier, Mario Calderon, Beum-Soo An, Emmanuelle Devemy, Fiona McIntosh, Maziar Divangahi, Marcel A. Behr, John H. White

PLoS Pathog. 2013 Jun; 9(6): e1003407. Published online 2013 Jun 6. doi: 10.1371/journal.ppat.1003407