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Nonsense-mediated RNA Decay Pathway Inhibition Restores Expression and Function of W1282X CFTR
Keenan, Melissa M., Huang, Lulu, Jordan, Nikole J., Wong, Eric, Cheng, Yi, Valley, Hillary C., Mahiou, Jerome, Liang, Feng, Bihler, Hermann, Mense, Martin, Guo, Shuling, Monia, Brett P.
Published in American journal of respiratory cell and molecular biology (01.09.2019)
Published in American journal of respiratory cell and molecular biology (01.09.2019)
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p53 mutation with frequent novel codons but not a mutator phenotype in BRCA1- and BRCA2-associated breast tumours
Crook, Tim, Brooks, Louise A, Crossland, Susan, Osin, P, Barker, Karen T, Waller, Joanne, Philp, Elizabeth, Smith, Paul D, Yulug, Isik, Peto, Julian, Parker, Gillian, Allday, Martin J, Crompton, Mark R, Gusterson, Barry A
Published in Oncogene (01.10.1998)
Published in Oncogene (01.10.1998)
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Ribosome-based quality control of mRNA and nascent peptides
Simms, Carrie L, Thomas, Erica N, Zaher, Hani S
Published in Wiley interdisciplinary reviews. RNA (01.01.2017)
Published in Wiley interdisciplinary reviews. RNA (01.01.2017)
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Prevalence and Impact of Minority Variant Drug Resistance Mutations in Primary HIV-1 Infection
Stekler, Joanne D., Ellis, Giovanina M., Carlsson, Jacquelyn, Eilers, Braiden, Holte, Sarah, Maenza, Janine, Stevens, Claire E., Collier, Ann C., Frenkel, Lisa M.
Published in PloS one (16.12.2011)
Published in PloS one (16.12.2011)
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Expanding the phenotypic and allelic spectrum of SMG8: Clinical observations reveal overlap with SMG9‐associated disease trait
Abdel‐Salam, Ghada M. H., Duan, Ruizhi, Abdel‐Hamid, Mohamed S., Sayed, Inas S. M., Jhangiani, Shalini N., Khan, Ziad, Du, Haowei, Gibbs, Richard A., Posey, Jennifer E., Marafi, Dana, Lupski, James R.
Published in American journal of medical genetics. Part A (01.02.2022)
Published in American journal of medical genetics. Part A (01.02.2022)
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Alternative splicing fine-tunes prey shift of Coccinellini lady beetles to non-target insect
Tang, Xuefei, Xia, Xinhui, Liu, Yuqi, Hong, Xiyao, Huang, Yuhao, Li, Guannan, Liang, Yuansen, Wang, Xueqing, Pang, Hong, Yang, Yuchen
Published in BMC genomics (12.05.2025)
Published in BMC genomics (12.05.2025)
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β‐Hemoglobinopathies in the Lao People's Democratic Republic: Molecular diagnostics and implication for a prevention and control program
Singha, Kritsada, Chaibunruang, Attawut, Souvanlasy, Bounpalisone, Srivorakun, Hataichanok, Yamsri, Supawadee, Fucharoen, Goonnapa, Fucharoen, Supan
Published in International journal of laboratory hematology (01.06.2021)
Published in International journal of laboratory hematology (01.06.2021)
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Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review
Romano, Ferruccio, Haanpää, Maria K., Pomianowski, Pawel, Peraino, Amanda Rose, Pollard, John R., Di Feo, Maria Francesca, Traverso, Monica, Severino, Mariasavina, Derchi, Maria, Henzen, Edoardo, Zara, Federico, Faravelli, Francesca, Capra, Valeria, Scala, Marcello
Published in American journal of medical genetics. Part A (01.06.2024)
Published in American journal of medical genetics. Part A (01.06.2024)
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Clinical Heterogeneity in Monogenic Diabetes Caused by Mutations in the Glucokinase Gene (GCK-MODY)
Cuesta-Muñoz, Antonio L, Tuomi, Tiinamaija, Cobo-Vuilleumier, Nadia, Koskela, Hanna, Odili, Stella, Stride, Amanda, Buettger, Carol, Otonkoski, Timo, Froguel, Philippe, Grimsby, Joseph, Garcia-Gimeno, Maria, Matschinsky, Franz M
Published in Diabetes care (01.02.2010)
Published in Diabetes care (01.02.2010)
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Glucagon Cell Hyperplasia and Neoplasia With and Without Glucagon Receptor Mutations
Sipos, Bence, Sperveslage, Jan, Anlauf, Martin, Hoffmeister, Maike, Henopp, Tobias, Buch, Stephan, Hampe, Jochen, Weber, Achim, Hammel, Pascal, Couvelard, Anne, Höbling, Walter, Lieb, Wolfgang, Boehm, Bernhard O., Klöppel, Günter
Published in The journal of clinical endocrinology and metabolism (01.05.2015)
Published in The journal of clinical endocrinology and metabolism (01.05.2015)
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Human coding RNA editing is generally nonadaptive
Xu, Guixia, Zhang, Jianzhi
Published in Proceedings of the National Academy of Sciences - PNAS (11.03.2014)
Published in Proceedings of the National Academy of Sciences - PNAS (11.03.2014)
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KRAS mutation analysis by droplet digital PCR of duodenal juice from patients with MODY8 and other pancreatic diseases
Choi, Man Hung, Tjora, Erling, Forthun, Rakel Brendsdal, Engjom, Trond, Ræder, Helge, Hovland, Randi, Molven, Anders
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.12.2021)
Published in Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (01.12.2021)
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Activating IGF1R hotspot non-frameshift insertions define a novel, potentially targetable molecular subtype of adenoid cystic carcinoma
Margolis, Matthew, Janovitz, Tyler, Laird, Jason, Mata, Douglas A., Montesion, Meagan, Lee, Jessica K., Madison, Russell W., Schrock, Alexa B., Tukachinsky, Hanna, Allen, Justin M., Erlich, Rachel, Hiemenz, Matthew C., Huang, Richard S.P., Elvin, Julia, Vergilio, Jo-Anne, Lin, Douglas I., Ross, Jeffrey, Oxnard, Geoffrey, Decker, Brennan
Published in Modern pathology (01.11.2022)
Published in Modern pathology (01.11.2022)
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Molecular Evidence of Increased Resistance to Anti-Folate Drugs in Plasmodium falciparum in North-East India: A Signal for Potential Failure of Artemisinin Plus Sulphadoxine-Pyrimethamine Combination Therapy
Mohapatra, Pradyumna Kishore, Sarma, Devojit Kumar, Prakash, Anil, Bora, Khukumoni, Ahmed, Md. Atique, Sarma, Bibhas, Goswami, Basanta Kumar, Bhattacharyya, Dibya Ranjan, Mahanta, Jagadish
Published in PloS one (03.09.2014)
Published in PloS one (03.09.2014)
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ADRB2 haplotypes and asthma exacerbations in children and young adults: An individual participant data meta‐analysis
Karimi, Leila, Vijverberg, Susanne J., Engelkes, Marjolein, Hernandez‐Pacheco, Natalia, Farzan, Niloufar, Soares, Patricia, Pino‐Yanes, Maria, Jorgensen, Andrea L., Eng, Celeste, Mukhopadhyay, Somnath, Schieck, Maximilian, Kabesch, Michael, Burchard, Esteban G., Chew, Fook Tim, Sio, Yang Yie, Potočnik, Uroš, Gorenjak, Mario, Hawcutt, Daniel B., Palmer, Colin N., Turner, Steve, Janssens, Hettie M., Maitland‐van der Zee, Anke H., Verhamme, Katia M. C.
Published in Clinical and experimental allergy (01.09.2021)
Published in Clinical and experimental allergy (01.09.2021)
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A Phase 1b Randomized, Controlled, Double-Blinded Dosage-Escalation Trial to Evaluate the Safety, Reactogenicity and Immunogenicity of an Adenovirus Type 35 Based Circumsporozoite Malaria Vaccine in Burkinabe Healthy Adults 18 to 45 Years of Age
Ouédraogo, Alphonse, Tiono, Alfred B., Kargougou, Désiré, Yaro, Jean Baptiste, Ouédraogo, Esperance, Kaboré, Youssouf, Kangoye, David, Bougouma, Edith C., Gansane, Adama, Henri, Noelie, Diarra, Amidou, Sanon, Souleymane, Soulama, Issiaka, Konate, Amadou T., Watson, Nora L., Brown, Valerie, Hendriks, Jenny, Pau, Maria Grazia, Versteege, Isabella, Wiesken, Edison, Sadoff, Jerald, Nebie, Issa, Sirima, Sodiomon B.
Published in PloS one (11.11.2013)
Published in PloS one (11.11.2013)
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