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Non‐coding variants in MYH11, FZD3, and SORCS3 are associated with dementia in women
Blue, Elizabeth E., Thornton, Timothy A., Kooperberg, Charles, Liu, Simin, Wactawski‐Wende, Jean, Manson, JoAnn, Kuller, Lew, Hayden, Kathleen, Reiner, Alexander P.
Published in Alzheimer's & dementia (01.02.2021)
Published in Alzheimer's & dementia (01.02.2021)
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Journal Article
Key Non-coding Variants in Three Neuroapoptosis and Neuroinflammation-Related LncRNAs Are Protectively Associated with Susceptibility to Parkinson’s Disease and Some of Its Clinical Features
Shadkam, Roshanak, Saadat, Payam, Azadmehr, Abbas, Chehrazi, Mohammad, Daraei, Abdolreza
Published in Molecular neurobiology (01.05.2024)
Published in Molecular neurobiology (01.05.2024)
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Journal Article
North Carolina macular dystrophy: phenotypic variability and computational analysis of disease-implicated non-coding variants
David M. McGaughey, Panagiotis I. Sergouniotis, David J. Green, Cerys S Manning, Eva Lenassi, Jamie M Ellingford, Graeme C.M. Black, Vinod Kumar Sharma
Published in Investigative Opthalmology & Visual Science (08.03.2021)
Published in Investigative Opthalmology & Visual Science (08.03.2021)
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Journal Article
Role of Non-Coding Variants of NLGN-3 and 4x Genes along with Non-Genetic Factors in Autism Spectrum Disorder (ASD) in Selected Population in Bangladesh: Non-coding variants in ASD
Khaleda, Laila, Priya, Israt Akter, Apu, Md. Abdur Rahman, Datta, Amit, Muhuri, Basana Rani, Al Forkan, Mohammad
Published in Bangladesh Medical Research Council bulletin (28.07.2022)
Published in Bangladesh Medical Research Council bulletin (28.07.2022)
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Journal Article
Diverse functions associate with non-coding polymorphisms shared between humans and chimpanzees
Velazquez-Arcelay, Keila, Benton, Mary Lauren, Capra, John A.
Published in BMC ecology and evolution (23.05.2022)
Published in BMC ecology and evolution (23.05.2022)
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Journal Article
A comprehensive analysis of cancer-driving mutations and genes in kidney cancer
Long, Chengmei, Jian, Jinbo, Li, Xinchang, Wang, Gongxian, Wang, Jingen
Published in Oncology letters (01.04.2017)
Published in Oncology letters (01.04.2017)
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Journal Article
Identification of a regulatory pathway governing TRAF1 via an arthritis-associated non-coding variant
Wang, Qiang, Martínez-Bonet, Marta, Kim, Taehyeung, Sparks, Jeffrey A., Ishigaki, Kazuyoshi, Chen, Xiaoting, Sudman, Marc, Aguiar, Vitor, Sim, Sangwan, Hernandez, Marcos Chiñas, Chiu, Darren J., Wactor, Alexandra, Wauford, Brian, Marion, Miranda C., Gutierrez-Arcelus, Maria, Bowes, John, Eyre, Stephen, Nordal, Ellen, Prahalad, Sampath, Rygg, Marite, Videm, Vibeke, Raychaudhuri, Soumya, Weirauch, Matthew T., Langefeld, Carl D., Thompson, Susan D., Nigrovic, Peter A.
Published in Cell genomics (08.11.2023)
Published in Cell genomics (08.11.2023)
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Journal Article
A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
Nabavizadeh, Nasrinsadat, Bressin, Annkatrin, Shboul, Mohammad, Moreno Traspas, Ricardo, Chia, Poh Hui, Bonnard, Carine, Szenker‐Ravi, Emmanuelle, Sarıbaş, Burak, Beillard, Emmanuel, Altunoglu, Umut, Hojati, Zohreh, Drutman, Scott, Freier, Susanne, El‐Khateeb, Mohammad, Fathallah, Rajaa, Casanova, Jean‐Laurent, Soror, Wesam, Arafat, Alaa, Escande‐Beillard, Nathalie, Mayer, Andreas, Reversade, Bruno
Published in EMBO molecular medicine (08.02.2023)
Published in EMBO molecular medicine (08.02.2023)
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Journal Article
Functional Loss of Semaphorin 3C and/or Semaphorin 3D and Their Epistatic Interaction with Ret Are Critical to Hirschsprung Disease Liability
Jiang, Qian, Arnold, Stacey, Heanue, Tiffany, Kilambi, Krishna Praneeth, Doan, Betty, Kapoor, Ashish, Ling, Albee Yun, Sosa, Maria X., Guy, Moltu, Jiang, Qingguang, Burzynski, Grzegorz, West, Kristen, Bessling, Seneca, Griseri, Paola, Amiel, Jeanne, Fernandez, Raquel M., Verheij, Joke B.G.M., Hofstra, Robert M.W., Borrego, Salud, Lyonnet, Stanislas, Ceccherini, Isabella, Gray, Jeffrey J., Pachnis, Vassilis, McCallion, Andrew S., Chakravarti, Aravinda
Published in American journal of human genetics (02.04.2015)
Published in American journal of human genetics (02.04.2015)
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Journal Article
Prevalence of genetic variants of keratins 8 and 18 in patients with drug-induced liver injury
Usachov, Valentyn, Urban, Thomas J., Fontana, Robert J., Gross, Annika, Iyer, Sapna, Omary, M. Bishr, Strnad, Pavel
Published in BMC medicine (19.08.2015)
Published in BMC medicine (19.08.2015)
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Journal Article
708 Common and 2010 rare DISC1 locus variants identified in 1542 subjects: analysis for association with psychiatric disorder and cognitive traits
Thomson, P A, Parla, J S, McRae, A F, Kramer, M, Ramakrishnan, K, Yao, J, Soares, D C, McCarthy, S, Morris, S W, Cardone, L, Cass, S, Ghiban, E, Hennah, W, Evans, K L, Rebolini, D, Millar, J K, Harris, S E, Starr, J M, MacIntyre, D J, McIntosh, A M, Watson, J D, Deary, I J, Visscher, P M, Blackwood, D H, McCombie, W R, Porteous, D J
Published in Molecular psychiatry (01.06.2014)
Published in Molecular psychiatry (01.06.2014)
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Journal Article
Pathogenic Abnormal Splicing Due to Intronic Deletions that Induce Biophysical Space Constraint for Spliceosome Assembly
Bryen, Samantha J., Joshi, Himanshu, Evesson, Frances J., Girard, Cyrille, Ghaoui, Roula, Waddell, Leigh B., Testa, Alison C., Cummings, Beryl, Arbuckle, Susan, Graf, Nicole, Webster, Richard, MacArthur, Daniel G., Laing, Nigel G., Davis, Mark R., Lührmann, Reinhard, Cooper, Sandra T.
Published in American journal of human genetics (05.09.2019)
Published in American journal of human genetics (05.09.2019)
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Journal Article
Genomic profiling of human vascular cells identifies TWIST1 as a causal gene for common vascular diseases
Nurnberg, Sylvia T., Guerraty, Marie A., Wirka, Robert C., Rao, H. Shanker, Pjanic, Milos, Norton, Scott, Serrano, Felipe, Perisic, Ljubica, Elwyn, Susannah, Pluta, John, Zhao, Wei, Testa, Stephanie, Park, YoSon, Nguyen, Trieu, Ko, Yi-An, Wang, Ting, Hedin, Ulf, Sinha, Sanjay, Barash, Yoseph, Brown, Christopher D., Quertermous, Thomas, Rader, Daniel J.
Published in PLoS genetics (09.01.2020)
Published in PLoS genetics (09.01.2020)
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Journal Article
An intronic variant in the CELF4 gene is associated with risk for colorectal cancer
Teerlink, Craig C., Stevens, Jeff, Hernandez, Rolando, Facelli, Julio C., Cannon-Albright, Lisa A.
Published in Cancer epidemiology (01.06.2021)
Published in Cancer epidemiology (01.06.2021)
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Journal Article
Mapping leprosy‐associated coding variants of interleukin genes by targeted sequencing
Zhang, Deng‐Feng, Li, Hui‐Long, Zheng, Quanzhen, Bi, Rui, Xu, Min, Wang, Dong, Zhu, Guo‐Ping, Li, Yu‐Ye, Yao, Yong‐Gang
Published in Clinical genetics (01.06.2021)
Published in Clinical genetics (01.06.2021)
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Journal Article
A genome‐wide association study of European advanced cancer patients treated with opioids identifies regulatory variants on chromosome 20 associated with pain intensity
Minnai, Francesca, Shkodra, Morena, Noci, Sara, Esposito, Martina, Brunelli, Cinzia, Pigni, Alessandra, Zecca, Ernesto, Skorpen, Frank, Klepstad, Pål, Kaasa, Stein, Corli, Oscar, Pallotti, Maria C., Maltoni, Marco C., Caraceni, Augusto T., Colombo, Francesca
Published in European journal of pain (01.01.2025)
Published in European journal of pain (01.01.2025)
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Journal Article