Results 161 to 170 of about 232,441 (272)

The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study

Hematological Oncology, Volume 40, Issue 5, Page 962-975, December 2022., 2022
Abstract Chronic lymphocytic leukemia (CLL) is a hematological disorder with complex clinical and biological behavior. TP53 mutational status and cytogenetic assessment of the deletion of the corresponding locus (17p13.1) are considered the most relevant biomarkers associated with pharmaco‐predictive response, chemo‐refractoriness, and worse prognosis ...
Giuseppa De Luca, Giannamaria Cerruti, Sonia Lastraioli, Romana Conte, Adalberto Ibatici, Nikki Di Felice, Fortunato Morabito, Paola Monti, Gilberto Fronza, Serena Matis, Monica Colombo, Sonia Fabris, Alessia Ciarrocchi, Antonino Neri, Paola Menichini, Manlio Ferrarini, Paolo Nozza, Franco Fais, Giovanna Cutrona, Mariella Dono   +19 more
wiley   +1 more source

The wheat chloroplast gene for CF₀ subunit I of ATP synthase contains a large intron [PDF]

, 1985
Colin R. Bird, B H Koller, Anthony D. Auffret, Alison K. Huttly, Christopher J. Howe, Tristan A. Dyer, John C. Gray   +6 more
openalex   +1 more source

UNC13A Polymorphism Influences Survival in Patients with Frontotemporal Dementia

Annals of Neurology, EarlyView.
UNC13A (rs12608932‐CC) is associated with both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), and shortens survival in ALS. We aim to describe the association for UNC13A and survival in FTD. We included 626 patients with FTD from Dutch memory clinics, including a subcohort of 150 patients with TDP‐43 pathology. Survival analyses
Lianne M. Reus, Sean W. Willemse, Sterre C.M. de Boer, Julie De Houwer, Willem L. Hartog, Merel O. Mol, Jeroen G. J. van Rooij, Niccolo Tesi, Laura Donker Kaat, Marc Hulsman, Everard G. B. Vijverberg, Henne Holstege, Wouter van Rheenen, Jan H. Veldink, Leonard H. van den Berg, John C. van Swieten, H. Seelaar, Sven J. van der Lee, Michael A. van Es, Yolande A. L. Pijnenburg   +19 more
wiley   +1 more source

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points‐based ACMG/AMP approach

Human Mutation, Volume 43, Issue 12, Page 1921-1944, December 2022., 2022
Abstract Skipping of BRCA2 exon 3 (∆E3) is a naturally occurring splicing event, complicating clinical classification of variants that may alter ∆E3 expression. This study used multiple evidence types to assess pathogenicity of 85 variants in/near BRCA2 exon 3.
Mads Thomassen, Romy L. S. Mesman, Thomas V. O. Hansen, Mireia Menendez, Maria Rossing, Ada Esteban‐Sánchez, Emma Tudini, Therese Törngren, Michael T. Parsons, Inge S. Pedersen, Soo H. Teo, Torben A. Kruse, Pål Møller, Åke Borg, Uffe B. Jensen, Lise L. Christensen, Christian F. Singer, Daniela Muhr, Marta Santamarina, Rita Brandao, Brage S. Andresen, Bing‐Jian Feng, Daffodil Canson, Marcy E. Richardson, Rachid Karam, Tina Pesaran, Holly LaDuca, Blair R. Conner, Nelly Abualkheir, Lily Hoang, Fabienne M. G. R. Calléja, Lesley Andrews, Paul A. James, Dave Bunyan, Amanda Hamblett, Paolo Radice, David E. Goldgar, Logan C. Walker, Christoph Engel, Kathleen B. M. Claes, Eva Macháčková, Diana Baralle, Alessandra Viel, Barbara Wappenschmidt, Conxi Lazaro, Ana Vega, ENIGMA Consortium, Maaike P. G. Vreeswijk, Miguel de la Hoya, Amanda B. Spurdle   +49 more
wiley   +1 more source

Sequence and exon-intron organization of the DNA encoding the alpha I domain of human spectrin. Application to the study of mutations causing hereditary elliptocytosis. [PDF]

, 1989
Kenneth E. Sahr, Takashi Tobe, A L Scarpa, K Laughinghouse, Sally L. Marchesi, Peter Agre, Alban J. Linnenbach, Vincent T. Marchesi, Bernard G. Forget   +8 more
openalex   +1 more source

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting

Human Mutation, Volume 43, Issue 12, Page 1956-1969, December 2022., 2022
Abstract Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contribution of low‐level mosaic TSC1/TSC2 mutations in unsolved sporadic patients and families with ...
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand   +31 more
wiley   +1 more source

RNA processing and expression of an intron-encoded protein in yeast mitochondria: role of a conserved dodecamer sequence.

, 1987
Huanhu Zhu, I G Macreadie, Ronald A. Butow   +2 more
openalex   +1 more source

Nucleotide sequence and organization of the mouse adenine phosphoribosyltransferase gene: presence of a coding region common to animal and bacterial phosphoribosyltransferases that has a variable intron/exon arrangement. [PDF]

, 1985
Michael Dush, James M. Sikela, SA Khan, Jay A. Tischfield, P J Stambrook   +4 more
openalex   +1 more source

Mutation update for the ACTN2 gene

Human Mutation, Volume 43, Issue 12, Page 1745-1756, December 2022., 2022
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between the anti‐parallel actin filaments. This important structural protein also binds N‐terminal titins, and thus contributes to sarcomere stability.
Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese   +13 more
wiley   +1 more source

Expression of the "split gene" cob in yeast mtDNA. Nuclear mutations specifically block the excision of different introns from its primary transcript.

, 1983
Timothy M. Pillar, B. Franz Lang, Iris Steinberger, Bernd Vogt, F. Kaudewitz   +4 more
openalex   +1 more source