Human Genome Epidemiology Literature Finder
Records 1 - 27 (of 27 Records) |
Query Trace: CACNA1G[original query] |
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CpG island methylator phenotype (CIMP) of colorectal cancer is best characterised by quantitative DNA methylation analysis and prospective cohort studies. Gut 2006 1 55 (7): 1000-6. Ogino S, Cantor M, Kawasaki T, Brahmandam M, Kirkner G J, Weisenberger D J, Campan M, Laird P W, Loda M, Fuchs C |
Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. Human mutation 2007 May 28 (5): 524-5. Singh Baljinder, Monteil Arnaud, Bidaud Isabelle, Sugimoto Yoshihisa, Suzuki Toshimitsu, Hamano Shin-ichiro, Oguni Hirokazu, Osawa Makiko, Alonso Maria E, Delgado-Escueta Antonio V, Inoue Yushi, Yasui-Furukori Norio, Kaneko Sunao, Lory Philippe, Yamakawa Kazuhi |
TGFBR2 mutation is correlated with CpG island methylator phenotype in microsatellite instability-high colorectal cancer. Human pathology 2007 Apr 38 (4): 614-20. Ogino Shuji, Kawasaki Takako, Ogawa Akiyo, Kirkner Gregory J, Loda Massimo, Fuchs Charles |
PIK3CA mutation in colorectal cancer: relationship with genetic and epigenetic alterations. Neoplasia (New York, N.Y.) 2008 Jun 10 (6): 534-41. Nosho Katsuhiko, Kawasaki Takako, Ohnishi Mutsuko, Suemoto Yuko, Kirkner Gregory J, Zepf Dimity, Yan Liying, Longtine Janina A, Fuchs Charles S, Ogino Shu |
A prospective cohort study shows unique epigenetic, genetic, and prognostic features of synchronous colorectal cancers. Gastroenterology 2009 Nov 137 (5): 1609-20.e1-3. Nosho Katsuhiko, Kure Shoko, Irahara Natsumi, Shima Kaori, Baba Yoshifumi, Spiegelman Donna, Meyerhardt Jeffrey A, Giovannucci Edward L, Fuchs Charles S, Ogino Shu |
High-density SNP association study of the 17q21 chromosomal region linked to autism identifies CACNA1G as a novel candidate gene. Molecular psychiatry 2010 Oct 15 (10): 996-1005. Strom S P, Stone J L, Ten Bosch J R, Merriman B, Cantor R M, Geschwind D H, Nelson S |
Vitamin D receptor expression is associated with PIK3CA and KRAS mutations in colorectal cancer. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2009 Oct 18 (10): 2765-72. Kure Shoko, Nosho Katsuhiko, Baba Yoshifumi, Irahara Natsumi, Shima Kaori, Ng Kimmie, Meyerhardt Jeffrey A, Giovannucci Edward L, Fuchs Charles S, Ogino Shu |
Polymorphisms in methyl-group metabolism genes and risk of sporadic colorectal cancer with relation to the CpG island methylator phenotype. Cancer epidemiology 2010 Jun 34 (3): 338-44. Karpinski Pawel, Myszka Aleksander, Ramsey David, Misiak Blazej, Gil Justyna, Laczmanska Izabela, Grzebieniak Zygmunt, Sebzda Tadeusz, Smigiel Robert, Stembalska Agnieszka, Sasiadek Maria |
Promoter methylation of specific genes is associated with the phenotype and progression of colorectal adenocarcinomas. Annals of surgical oncology 2010 1 17 (7): 1767-76. Kim Jin C, Choi Jin S, Roh Seon A, Cho Dong H, Kim Tae W, Kim Yong |
B vitamins, methionine and alcohol intake and risk of colon cancer in relation to BRAF mutation and CpG island methylator phenotype (CIMP). PloS one 2011 6 (6): e21102. Schernhammer Eva S, Giovannucci Edward, Baba Yoshifumi, Fuchs Charles S, Ogino Shu |
CpG island methylator phenotype infers a poor disease-free survival in locally advanced rectal cancer. Surgery 2012 Apr 151 (4): 564-70. Jo Peter, Jung Klaus, Grade Marian, Conradi Lena-Christin, Wolff Hendrik A, Kitz Julia, Becker Heinz, Rüschoff Josef, Hartmann Arndt, Beissbarth Tim, Müller-Dornieden Annegret, Ghadimi Michael, Schneider-Stock Regine, Gaedcke Joch |
Genomic aberrations occurring in subsets of serrated colorectal lesions but not conventional adenomas. Cancer research 2013 May 73 (9): 2863-72. Burnett-Hartman Andrea N, Newcomb Polly A, Potter John D, Passarelli Michael N, Phipps Amanda I, Wurscher Michelle A, Grady William M, Zhu Lee-Ching, Upton Melissa P, Makar Karen |
Cacna1g is a genetic modifier of epilepsy caused by mutation of voltage-gated sodium channel Scn2a. Epilepsia 2016 Apr . Calhoun Jeffrey D, Hawkins Nicole A, Zachwieja Nicole J, Kearney Jennifer |
Pharmacogenetics of antiepileptic drug efficacy in childhood absence epilepsy. Annals of neurology 2017 Mar 81 (3): 444-453. Glauser Tracy A, Holland Katherine, O'Brien Valerie P, Keddache Mehdi, Martin Lisa J, Clark Peggy O, Cnaan Avital, Dlugos Dennis, Hirtz Deborah G, Shinnar Shlomo, Grabowski Gregory, |
Multi-gene panel testing in Korean patients with common genetic generalized epilepsy syndromes. PloS one 2018 13 (6): e0199321. Lee Cha Gon, Lee Jeehun, Lee Munhya |
Whole genome sequencing and rare variant analysis in essential tremor families. PloS one 2019 8 14 (8): e0220512. Odgerel Zagaa, Sonti Shilpa, Hernandez Nora, Park Jemin, Ottman Ruth, Louis Elan D, Clark Lorraine |
Ultra-Rare Genetic Variation in the Epilepsies: A Whole-Exome Sequencing Study of 17,606 Individuals. American journal of human genetics 2019 Jul . , |
Cimp-Positive Status is More Representative in Multiple Colorectal Cancers than in Unique Primary Colorectal Cancers. Scientific reports 2019 7 9 (1): 10516. Tapial Sandra, Olmedillas-López Susana, Rueda Daniel, Arriba María, García Juan L, Vivas Alfredo, Pérez Jessica, Pena-Couso Laura, Olivera Rocío, Rodríguez Yolanda, García-Arranz Mariano, García-Olmo Damián, González-Sarmiento Rogelio, Urioste Miguel, Goel Ajay, Perea Jo |
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 |
De novo CACNA1G variants in developmental delay and early-onset epileptic encephalopathies. Journal of the neurological sciences 2020 8 416 117047. Kunii Misako, Doi Hiroshi, Hashiguchi Shunta, Matsuishi Toyojiro, Sakai Yasunari, Iai Mizue, Okubo Masaki, Nakamura Haruko, Takahashi Keita, Katsumoto Atsuko, Tada Mikiko, Takeuchi Hideyuki, Ishikawa Taro, Miyake Noriko, Saitsu Hirotomo, Matsumoto Naomichi, Tanaka Fumia |
T-box transcription factor 3 governs a transcriptional program for the function of the mouse atrioventricular conduction system. Proceedings of the National Academy of Sciences of the United States of America 2020 Jul . Mohan Rajiv A, Bosada Fernanda M, van Weerd Jan H, van Duijvenboden Karel, Wang Jianan, Mommersteeg Mathilda T M, Hooijkaas Ingeborg B, Wakker Vincent, de Gier-de Vries Corrie, Coronel Ruben, Boink Gerard J J, Bakkers Jeroen, Barnett Phil, Boukens Bas J, Christoffels Vincent |
Genomic Markers for Essential Tremor. Pharmaceuticals (Basel, Switzerland) 2021 6 14 (6): . Jiménez-Jiménez Félix Javier, Alonso-Navarro Hortensia, García-Martín Elena, Álvarez Ignacio, Pastor Pau, Agúndez José A |
The Drosophila ortholog of the schizophrenia-associated CACNA1A and CACNA1B voltage-gated calcium channels regulate memory, sleep and circadian rhythms. Neurobiology of disease 2021 May 155 105394. Hidalgo Sergio, Campusano Jorge M, Hodge James J |
Clinical features of UK Biobank subjects carrying protein-truncating variants in genes implicated in schizophrenia pathogenesis. Psychiatric genetics 2022 Jun . Curtis Dav |
Characterizing Genotypes and Phenotypes Associated with Dysfunction of Channel-Encoding Genes in a Cohort of Patients with Intellectual Disability. Archives of Iranian medicine 2023 8 25 (12): 788-797. Naeim Ehtesham, Meysam Mosallaei, Maryam Beheshtian, Shahrouz Khoshbakht, Mahsa Fadaee, Raheleh Vazehan, Mehrshid Faraji Zonooz, Parvaneh Karimzadeh, Kimia Kahrizi, Hossein Najmaba |
Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. International journal of molecular sciences 2023 11 24 (22): . Dolores Martínez-Rubio, Isabel Hinarejos, Herminia Argente-Escrig, Clara Marco-Marín, María Ana Lozano, Nerea Gorría-Redondo, Vincenzo Lupo, Itxaso Martí-Carrera, Concepción Miranda, María Vázquez-López, Asunción García-Pérez, Ana Victoria Marco-Hernández, Miguel Tomás-Vila, Sergio Aguilera-Albesa, Carmen Espin |
The genetic landscape of autism spectrum disorder in the Middle Eastern population. Frontiers in genetics 2024 4 15 1363849. Yasser Al-Sarraj, Rowaida Z Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M E Albag |
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- Page last updated:Apr 16, 2024
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