Human Genome Epidemiology Literature Finder
Records 1 - 14 (of 14 Records) |
Query Trace: TCIRG1[original query] |
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Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2003 Oct 18 (10): 1740-7. Frattini Annalisa, Pangrazio Alessandra, Susani Lucia, Sobacchi Cristina, Mirolo Massimiliano, Abinun Mario, Andolina Marino, Flanagan Adrienne, Horwitz Edwin M, Mihci Ercan, Notarangelo Luigi D, Ramenghi Ugo, Teti Anna, Van Hove Johan, Vujic Dragana, Young Terri, Albertini Alberto, Orchard Paul J, Vezzoni Paolo, Villa An |
Association between a polymorphism affecting an AP1 binding site in the promoter of the TCIRG1 gene and bone mass in women. Calcified tissue international 2004 Jan 74 (1): 35-41. Sobacchi C, Vezzoni P, Reid D M, McGuigan F E A, Frattini A, Mirolo M, Albhaga O M E, Musio A, Villa A, Ralston S |
Genetic analysis of autosomal recessive osteopetrosis in Chuvashiya: the unique splice site mutation in TCIRG1 gene spread by the founder effect. European journal of human genetics : EJHG 2009 May 17 (5): 664-72. Bliznetz Elena A, Tverskaya Svetlana M, Zinchenko Rena A, Abrukova Anna V, Savaskina Ekaterina N, Nikulin Maxim V, Kirillov Alexander G, Ginter Evgeny K, Polyakov Alexander |
A founder mutation in the TCIRG1 gene causes osteopetrosis in the Ashkenazi Jewish population. Clinical genetics 2015 Jul 88 (1): 74-9. Anderson S L, Jalas C, Fedick A, Reid K F, Carpenter T O, Chirnomas D, Treff N R, Ekstein J, Rubin B |
Epiregulin (EREG) and human V-ATPase (TCIRG1): genetic variation, ethnicity and pulmonary tuberculosis susceptibility in Guinea-Bissau and The Gambia. Genes and immunity 2014 Sep 15 (6): 370-7. White M J, Tacconelli A, Chen J S, Wejse C, Hill P C, Gomes V F, Velez-Edwards D R, Østergaard L J, Hu T, Moore J H, Novelli G, Scott W K, Williams S M, Sirugo |
Association Between Absolute Neutrophil Count and Variation at TCIRG1: The NHLBI Exome Sequencing Project. Genetic epidemiology 2016 May . Rosenthal Elisabeth A, Makaryan Vahagn, Burt Amber A, Crosslin David R, Kim Daniel Seung, Smith Joshua D, Nickerson Deborah A, Reiner Alex P, Rich Stephen S, Jackson Rebecca D, Ganesh Santhi K, Polfus Linda M, Qi Lihong, Dale David C, , Jarvik Gail |
Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds. Pediatric blood & cancer 2016 Mar . Simanovsky Natalia, Rozovsky Katya, Hiller Nurith, Weintraub Michael, Stepensky Poli |
Novel mutations of TCIRG1 cause a malignant and mild phenotype of autosomal recessive osteopetrosis (ARO) in four Chinese families. Acta pharmacologica Sinica 2017 8 38 (11): 1456-1465. Zhang Xiao-Ya, He Jin-Wei, Fu Wen-Zhen, Wang Chun, Zhang Zhen-L |
Early-Onset Alzheimer Disease and Candidate Risk Genes Involved in Endolysosomal Transport. JAMA neurology 2017 Jul . Kunkle Brian W, Vardarajan Badri N, Naj Adam C, Whitehead Patrice L, Rolati Sophie, Slifer Susan, Carney Regina M, Cuccaro Michael L, Vance Jeffery M, Gilbert John R, Wang Li-San, Farrer Lindsay A, Reitz Christiane, Haines Jonathan L, Beecham Gary W, Martin Eden R, Schellenberg Gerard D, Mayeux Richard P, Pericak-Vance Margaret |
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis. BMJ open ophthalmology 2018 3 (1): e000180. Cao Wenhong, Wei Wenbin, Wu Qi |
Glioblastoma TCGA Mesenchymal and IGS 23 Tumors are Identifiable by IHC and have an Immune-phenotype Indicating a Potential Benefit from Immunotherapy. Clinical cancer research : an official journal of the American Association for Cancer Research 2020 10 26 (24): 6600-6609. Carrato Cristina, Alameda Francesc, Esteve-Codina Anna, Pineda Estela, Arpí Oriol, Martinez-García Maria, Mallo Mar, Gut Marta, Lopez-Martos Raquel, Barco Sonia Del, Ribalta Teresa, Capellades Jaume, Puig Josep, Gallego Oscar, Mesia Carlos, Muñoz-Marmol Ana M, Archilla Ivan, Arumí Montserrat, Blanc Julie Marie, Bellosillo Beatriz, Menendez Silvia, Esteve Anna, Bagué Silvia, Hernandez Ainhoa, Craven-Bartle Jordi, Fuentes Rafael, Vidal Noemí, Aldecoa Iban, Iglesia Nuria de la, Balana Carm |
Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report. BMC pediatrics 2021 7 21 (1): 297. Wu Ping, Cai Zhe, Jiang Wen-Hui, Lu Gen, Wu Pei-Qiong, Xie Zhi-Wei, Peng Jun-Zheng, Chen Chen, Qi Jun-Ye, Xu Li-Zhen, Shen Kun-Ling, Zeng Hua-Song, Yin Gen-Qu |
Proteomic Profiling and T Cell Receptor Usage of Abacavir Susceptible Subjects. Biomedicines 2022 3 10 (3): . Gall Eline, Stieglitz Florian, Pich Andreas, Behrens Georg Martin Norbert, Kuhn Joachim, Blasczyk Rainer, Haukamp Funmilola Josephine, Bade-Döding Christi |
[Analysis of clinical presentation and genetic characteristics of malignant infantile osteopetrosis]. Zhonghua er ke za zhi = Chinese journal of pediatrics 2023 10 61 (11): 1038-1042. A Wei, G H Zhu, M Q Qin, C G Jia, B Wang, J Yang, Y H Luo, Y F Jing, Y Yan, X Zhou, T Y Wa |
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- Page last updated:Apr 22, 2024
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