Human Genome Epidemiology Literature Finder
Records 1 - 28 (of 28 Records) |
Query Trace: ITPR1[original query] |
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A functional genomics approach reveals novel quantitative trait loci associated with platelet signaling pathways. Blood 2009 Aug 114 (7): 1405-16. Jones Chris I, Bray Sarah, Garner Stephen F, Stephens Jonathan, de Bono Bernard, Angenent Will G J, Bentley David, Burns Philippa, Coffey Alison, Deloukas Panos, Earthrowl Mark, Farndale Richard W, Hoylaerts Marc F, Koch Kerstin, Rankin Angela, Rice Catherine M, Rogers Jane, Samani Nilesh J, Steward Michael, Walker Adam, Watkins Nicholas A, Akkerman Jan-Willem, Dudbridge Frank, Goodall Alison H, Ouwehand Willem H, |
De novo point mutations in patients diagnosed with ataxic cerebral palsy. Brain : a journal of neurology 2015 Jul 138 (Pt 7): 1817-32. Parolin Schnekenberg Ricardo, Perkins Emma M, Miller Jack W, Davies Wayne I L, D'Adamo Maria Cristina, Pessia Mauro, Fawcett Katherine A, Sims David, Gillard Elodie, Hudspith Karl, Skehel Paul, Williams Jonathan, O'Regan Mary, Jayawant Sandeep, Jefferson Rosalind, Hughes Sarah, Lustenberger Andrea, Ragoussis Jiannis, Jackson Mandy, Tucker Stephen J, Németh Andrea |
Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene. Journal of neurology 2015 May 262 (5): 1278-84. Sasaki Masayuki, Ohba Chihiro, Iai Mizue, Hirabayashi Shinichi, Osaka Hitoshi, Hiraide Takuya, Saitsu Hirotomo, Matsumoto Naomic |
Autophagy-related prognostic signature for breast cancer. Molecular carcinogenesis 2015 Jan . Gu Yunyan, Li Pengfei, Peng Fuduan, Zhang Mengmeng, Zhang Yuanyuan, Liang Haihai, Zhao Wenyuan, Qi Lishuang, Wang Hongwei, Wang Chenguang, Guo Zhe |
GWAS and transcriptional analysis prioritize ITPR1 and CNTN4 for a serum uric acid 3p26 QTL in Mexican Americans. BMC genomics 2016 Apr 17 276. Chittoor Geetha, Kent Jack W, Almeida Marcio, Puppala Sobha, Farook Vidya S, Cole Shelley A, Haack Karin, Göring Harald H H, MacCluer Jean W, Curran Joanne E, Carless Melanie A, Johnson Matthew P, Moses Eric K, Almasy Laura, Mahaney Michael C, Lehman Donna M, Duggirala Ravindranath, Comuzzie Anthony G, Blangero John, Voruganti Venkata Saro |
Mutations in the IRBIT domain of ITPR1 are a frequent cause of autosomal dominant nonprogressive congenital ataxia. Clinical genetics 2016 Apr . Barresi S, Niceta M, Alfieri P, Brankovich V, Piccini G, Bruselles A, Barone M R, Cusmai R, Tartaglia M, Bertini E, Zanni |
ITPR1 gene p.Val1553Met mutation in Russian family with mild Spinocerebellar ataxia. Cerebellum & ataxias 2016 3 2. Shadrina M I, Shulskaya M V, Klyushnikov S A, Nikopensius T, Nelis M, Kivistik P A, Komar A A, Limborska S A, Illarioshkin S N, Slominsky P |
Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH). PloS one 2017 8 12 (8): e0181791. Hayashi Shin, Uehara Daniela Tiaki, Tanimoto Kousuke, Mizuno Seiji, Chinen Yasutsugu, Fukumura Shinobu, Takanashi Jun-Ichi, Osaka Hitoshi, Okamoto Nobuhiko, Inazawa Joh |
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain : a journal of neurology 2017 Jun 140 (6): 1579-1594. Coutelier Marie, Coarelli Giulia, Monin Marie-Lorraine, Konop Juliette, Davoine Claire-Sophie, Tesson Christelle, Valter Rémi, Anheim Mathieu, Behin Anthony, Castelnovo Giovanni, Charles Perrine, David Albert, Ewenczyk Claire, Fradin Mélanie, Goizet Cyril, Hannequin Didier, Labauge Pierre, Riant Florence, Sarda Pierre, Sznajer Yves, Tison François, Ullmann Urielle, Van Maldergem Lionel, Mochel Fanny, Brice Alexis, Stevanin Giovanni, Durr Alexandra, |
Identification of a Splicing Mutation in ITPR1 via WES in a Chinese Early-Onset Spinocerebellar Ataxia Family. Cerebellum (London, England) 2017 12 17 (3): 294-299. Wang Li, Hao Ying, Yu Peng, Cao Zhenhua, Zhang Jin, Zhang Xin, Chen Yuanyuan, Zhang Hao, Gu Weiho |
Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias. PloS one 2017 11 12 (11): e0187503. Hsiao Cheng-Tsung, Liu Yo-Tsen, Liao Yi-Chu, Hsu Ting-Yi, Lee Yi-Chung, Soong Bing-W |
Whole exome sequencing identifies MRVI1 as a susceptibility gene for moyamoya syndrome in neurofibromatosis type 1. PloS one 2018 13 (7): e0200446. Santoro Claudia, Giugliano Teresa, Kraemer Markus, Torella Annalaura, Schwitalla Jan Claudius, Cirillo Mario, Melis Daniela, Berlit Peter, Nigro Vincenzo, Perrotta Silverio, Piluso Giul |
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function. European journal of human genetics : EJHG 2018 Nov 26 (11): 1623-1634. Synofzik Matthis, Helbig Katherine L, Harmuth Florian, Deconinck Tine, Tanpaiboon Pranoot, Sun Bo, Guo Wenting, Wang Ruiwu, Palmaer Erika, Tang Sha, Schaefer G Bradley, Gburek-Augustat Janina, Züchner Stephan, Krägeloh-Mann Ingeborg, Baets Jonathan, de Jonghe Peter, Bauer Peter, Chen S R Wayne, Schöls Ludger, Schüle Rebec |
Cardiac arrhythmia and neuroexcitability gene variants in resected brain tissue from patients with sudden unexpected death in epilepsy (SUDEP). NPJ genomic medicine 2018 4 3 9. Friedman Daniel, Kannan Kasthuri, Faustin Arline, Shroff Seema, Thomas Cheddhi, Heguy Adriana, Serrano Jonathan, Snuderl Matija, Devinsky Orr |
Heterozygous missense variants of SPTBN2 are a frequent cause of congenital cerebellar ataxia. Clinical genetics 2019 May . Nicita Francesco, Nardella Marta, Bellacchio Emanuele, Alfieri Paolo, Terrone Gaetano, Piccini Giorgia, Graziola Federica, Pignata Claudio, Capuano Alessandro, Bertini Enrico, Zanni Ginev |
Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes. Neurogenetics 2019 2 20 (1): 27-38. Elert-Dobkowska Ewelina, Stepniak Iwona, Krysa Wioletta, Ziora-Jakutowicz Karolina, Rakowicz Maria, Sobanska Anna, Pilch Jacek, Antczak-Marach Dorota, Zaremba Jacek, Sulek An |
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nature communications 2019 10 10 (1): 4790. Wagner Matias, Osborn Daniel P S, Gehweiler Ina, Nagel Maike, Ulmer Ulrike, Bakhtiari Somayeh, Amouri Rim, Boostani Reza, Hentati Faycal, Hockley Maryam M, Hölbling Benedikt, Schwarzmayr Thomas, Karimiani Ehsan Ghayoor, Kernstock Christoph, Maroofian Reza, Müller-Felber Wolfgang, Ozkan Ege, Padilla-Lopez Sergio, Reich Selina, Reichbauer Jennifer, Darvish Hossein, Shahmohammadibeni Neda, Tafakhori Abbas, Vill Katharina, Zuchner Stephan, Kruer Michael C, Winkelmann Juliane, Jamshidi Yalda, Schüle Rebec |
Genetic variants in the calcium signaling pathway genes are associated with cutaneous melanoma-specific survival. Carcinogenesis 2019 1 40 (2): 279-288. Wang Xiaomeng, Liu Hongliang, Xu Yinghui, Xie Jichun, Zhu Dakai, Amos Christopher I, Fang Shenying, Lee Jeffrey E, Li Xin, Nan Hongmei, Song Yanqiu, Wei Qing |
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications. Parkinsonism & related disorders 2020 9 80 58-64. Kim Minkyeong, Kim Ah Reum, Kim Ji Sun, Park Jongkyu, Youn Jinyoung, Ahn Jong Hyeon, Mun Jun Kyu, Lee Chung, Kim Nam-Soon, Kim Nayoung K D, Park Woong-Yang, Cho Jin Wh |
Systems genetics analysis identifies calcium-signaling defects as novel cause of congenital heart disease. Genome medicine 2020 8 12 (1): 76. Izarzugaza Jose M G, Ellesøe Sabrina G, Doganli Canan, Ehlers Natasja Spring, Dalgaard Marlene D, Audain Enrique, Dombrowsky Gregor, Banasik Karina, Sifrim Alejandro, Wilsdon Anna, Thienpont Bernard, Breckpot Jeroen, Gewillig Marc, , Brook J David, Hitz Marc-Phillip, Larsen Lars A, Brunak Sør |
Trans-ethnic meta-analysis of genome-wide association studies identifies maternal ITPR1 as a novel locus influencing fetal growth during sensitive periods in pregnancy. PLoS genetics 2020 5 16 (5): e1008747. Tekola-Ayele Fasil, Zhang Cuilin, Wu Jing, Grantz Katherine L, Rahman Mohammad L, Shrestha Deepika, Ouidir Marion, Workalemahu Tsegaselassie, Tsai Michael |
Association of Polymorphisms in the Kisspeptin/GPR54 Pathway Genes With Risk of Early Puberty in Chinese Girls. The Journal of clinical endocrinology and metabolism 2020 3 105 (4): . Li Di, Wu Yu, Cheng Jinquan, Liu Liegang, Li Xiaoheng, Chen Dingyan, Huang Suli, Wen Ying, Ke Yuebin, Yao Yao, Su Zhe, Zhou |
Polygenic Profile of Elite Strength Athletes. Journal of strength and conditioning research 2020 Dec . Moreland Ethan, Borisov Oleg V, Semenova Ekaterina A, Larin Andrey K, Andryushchenko Oleg N, Andryushchenko Liliya B, Generozov Edward V, Williams Alun G, Ahmetov Ildus |
Genetic associations of in vivo pathology influence Alzheimer's disease susceptibility. Alzheimer's research & therapy 2020 11 12 (1): 156. Seo Jieun, Byun Min Soo, Yi Dahyun, Lee Jun Ho, Jeon So Yeon, Shin Seong A, Kim Yu Kyeong, Kang Koung Mi, Sohn Chul-Ho, Jung Gijung, Park Jong-Chan, Han Sun-Ho, Byun Jayoung, Mook-Jung Inhee, Lee Dong Young, Choi Murim, |
[Diagnosis of a patient with Spinocerebellar ataxia type 29 due to a novel variant of ITPR1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2022 12 40 (1): 76-80. Zhi Ya Nan, Liu Jiao, Zhen Cheng, Li Juan, Wang Fangna, Luo Yan, Zhang Pingping, Zhang Mingming, Li Ya |
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain. Neurology. Genetics 2022 12 8 (6): e200038. Baviera-Muñoz Raquel, Carretero-Vilarroig Lidón, Vázquez-Costa Juan Francisco, Morata-Martínez Carlos, Campins-Romeu Marina, Muelas Nuria, Sastre-Bataller Isabel, Martínez-Torres Irene, Pérez-García Julia, Sivera Rafael, Sevilla Teresa, Vilchez Juan J, Jaijo Teresa, Espinós Carmen, Millán Jose M, Bataller Luis, Aller Ele |
Inositol 1,4,5-trisphosphate receptor gene variants are related to the risk of breast cancer in a Chinese population. The journal of gene medicine 2022 11 25 (2): e3463. Chen Jiaping, Zhou Jing, Jiang Yue, Wang Yuzhuo, Chen Congcong, Jiang Tao, Du Jiang |
Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. Neurology. Genetics 2023 12 9 (1): e200050. Fatemeh Ghorbani, Eddy N de Boer, Marloes Benjamins-Stok, Corien C Verschuuren-Bemelmans, Jurjen Knapper, Jelkje de Boer-Bergsma, Jeroen J de Vries, Birgit Sikkema-Raddatz, Dineke S Verbeek, Helga Westers, Cleo C van Diem |
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- Page last updated:Apr 29, 2024
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