Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: RAB27A[original query] |
---|
Genetic loci contributing to hemophagocytic lymphohistiocytosis do not confer susceptibility to systemic-onset juvenile idiopathic arthritis. Arthritis and rheumatism 2008 Mar 58 (3): 869-74. Donn Rachelle, Ellison Stuart, Lamb Rebecca, Day Thomas, Baildam Eileen, Ramanan Athimalaipet |
Genome-wide analysis of chromosomal alterations in patients with esophageal squamous cell carcinoma exposed to tobacco and betel quid from high-risk area in India. Mutation research 2010 Feb 696 (2): 130-8. Chattopadhyay Indranil, Singh Avninder, Phukan Rupkumar, Purkayastha Joydeep, Kataki Amal, Mahanta Jagadish, Saxena Sunita, Kapur Suja |
Synergistic defects of different molecules in the cytotoxic pathway lead to clinical familial hemophagocytic lymphohistiocytosis. Blood 2014 Aug 124 (8): 1331-4. Zhang Kejian, Chandrakasan Shanmuganathan, Chapman Heather, Valencia C Alexander, Husami Ammar, Kissell Diane, Johnson Judith A, Filipovich Alexandra |
A common variant in RAB27A gene is associated with fractional exhaled nitric oxide levels in adults.
Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology 2015 Apr 45 (4): 797-806. Bouzigon E, Nadif R, Thompson E E, Concas M P, Kuldanek S, Du G, Brossard M, Lavielle N, Sarnowski C, Vaysse A, Dessen P, van der Valk R J P, Duijts L, Henderson A J, Jaddoe V W V, de Jongste J C, , Casula S, Biino G, Dizier M-H, Pin I, Matran R, Lathrop M, Pirastu M, Demenais F, Ober C, |
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding. The Journal of allergy and clinical immunology 2015 May 135 (5): 1310-8.e1. Cetica Valentina, Hackmann Yvonne, Grieve Samantha, Sieni Elena, Ciambotti Benedetta, Coniglio Maria Luisa, Pende Daniela, Gilmour Kimberly, Romagnoli Paolo, Griffiths Gillian M, Aricò Mauriz |
Genetic loci associated with renal function measures and chronic kidney disease in children: the Pediatric Investigation for Genetic Factors Linked with Renal Progression Consortium.
Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2015 Sep . Wuttke Matthias, Wong Craig S, Wühl Elke, Epting Daniel, Luo Li, Hoppmann Anselm, Doyon Anke, Li Yong, , Sözeri Betül, Thurn Daniela, Helmstädter Martin, Huber Tobias B, Blydt-Hansen Tom D, Kramer-Zucker Albrecht, Mehls Otto, Melk Anette, Querfeld Uwe, Furth Susan L, Warady Bradley A, Schaefer Franz, Köttgen An |
Human Pigmentation, Cutaneous Vitamin D Synthesis and Evolution: Variants of Genes (SNPs) Involved in Skin Pigmentation Are Associated with 25(OH)D Serum Concentration. Anticancer research 2016 Mar 36 (3): 1429-37. Rossberg Willi, Saternus Roman, Wagenpfeil Stefan, Kleber Marcus, März Winfried, Reichrath Sandra, Vogt Thomas, Reichrath Jö |
Exome sequencing for simultaneous mutation screening in children with hemophagocytic lymphohistiocytosis. International journal of hematology 2017 Mar . Mukda Ekchol, Trachoo Objoon, Pasomsub Ekawat, Tiyasirichokchai Rawiphorn, Iemwimangsa Nareenart, Sosothikul Darintr, Chantratita Wasun, Pakakasama Sama |
Weibel-Palade Body Localized Syntaxin-3 Modulates Von Willebrand Factor Secretion From Endothelial Cells. Arteriosclerosis, thrombosis, and vascular biology 2018 Jun . Schillemans Maaike, Karampini Ellie, van den Eshof Bart, Gangaev Anastasia, Hofman Menno, van Breevoort Dorothee, Meems Henriët, Janssen Hans, Mulder Aat A, Jost Carolina R, Escher Johanna C, Adam Rüdiger, Carter Tom, Koster Abraham J, van den Biggelaar Maartje, Voorberg Jan, Bierings Rub |
Two novel genetic variants in the STK38L and RAB27A genes are associated with glioma susceptibility.
International journal of cancer 2019 Feb . Chen Hongyan, Chen Gong, Li Gang, Zhang Shuo, Chen Haitao, Chen Yuanyuan, Duggan Dave, Hu Zhibin, Chen Juxing, Zhao Yingjie, Zhao Yao, Huang Huiling, Zheng S Lilly, Trent Jeffrey M, Yu Long, Jiang Deke, Mo Zengnan, Wang Hongwei, Mou Yonggao, Jiang Tao, Mao Ying, Xu Jianfeng, Lu Da |
Frequency and spectrum of disease-causing variants in 1892 patients with suspected genetic HLH disorders. Blood advances 2020 Jun 4 (12): 2578-2594. Gadoury-Levesque Vanessa, Dong Lei, Su Rui, Chen Jianjun, Zhang Kejian, Risma Kimberly A, Marsh Rebecca A, Sun Mi |
NGS-based targeted sequencing identified two novel variants in Southwestern Chinese families with oculocutaneous albinism. BMC genomics 2022 4 23 (1): 332. Xiao Yuanyuan, Zhou Cong, Xie Hanbing, Huang Shuang, Wang Jing, Liu Shanli |
Severe adult haemophagocytic lymphohistiocytosis (HLHa) correlates with HLH-related gene variants. The Journal of allergy and clinical immunology 2023 9 . Coralie Bloch, Jean Philippe Jais, Marine Gil, Marouane Boubaya, Yves Lepelletier, Brigitte Bader-Meunier, Nizar Mahlaoui, Nicolas Garcelon, Olivier Lambotte, David Launay, Claire Larroche, Estibaliz Lazaro, Francois Liffermann, Olivier Lortholary, Marc Michel, Jean-Marie Michot, Pierre Morel, Morgane Cheminant, Felipe Suarez, Louis Terriou, Geoffrey Urbanski, Jean-Francois Viallard, Alexandre Alcais, Alain Fischer, Geneviève de Saint Basile, Olivier Hermine, |
Multiple genetic variants involved in both autoimmunity and autoinflammation detected in Chinese patients with sporadic Meniere's disease: a preliminary study. Frontiers in neurology 2023 6 14 1159658. Jing Zou, Guoping Zhang, Hongbin Li, Zikai Zhao, Qing Zhang, Ilmari Pyykkö, Antti Mäkit |
- Page last reviewed:Feb 1, 2024
- Page last updated:Apr 22, 2024
- Content source: