Results 231 to 240 of about 1,544,422 (378)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Fragile X syndrome due to a missense mutation

European Journal of Human Genetics, 2014
L. K. Myrick, Mika Nakamoto-Kinoshita, N. Lindor, S. Kirmani, Xiaodong Cheng, S. Warren   +5 more
semanticscholar   +1 more source

Missense-Mutation [PDF]

, 2018
openaire   +1 more source

A missense mutation in Muc2 promotes gut microbiome and metabolome-dependent colitis-associated tumorigenesis. [PDF]

J Clin Invest
Verna G, De Santis S, Islam BN, Sommella EM, Licastro D, Zhang L, De Almeida Celio F, Miller EN, Merciai F, Caponigro V, Xin W, Campiglia P, Pizarro TT, Chieppa M, Cominelli F.   +14 more
europepmc   +1 more source

Detecting TP53 mutations in paired liquid and tissue biopsies from patients with high‐grade serous ovarian carcinoma

International Journal of Cancer, EarlyView.
What's New? High‐grade serous ovarian carcinoma is often diagnosed at advanced stages due to non‐specific symptoms and the lack of reliable screening methods. This proof‐of‐concept study introduces a novel TP53 mutation panel using unique molecular identifier‐based next‐generation sequencing for sensitive detection of high‐grade serous ovarian ...
Amanda Olsson Widjaja, Peter Micallef, Maria Lycke, Tobias Österlund, Manuel Luna Santamaría, Julia Hedlund Lindberg, Therese Carlsson, Ulf Gyllensten, Anders Ståhlberg, Benjamin Ulfenborg, Anna Linder, Karin Sundfeldt   +11 more
wiley   +1 more source

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS.

Journal of the American Society of Nephrology, 2014
Evelyne Huynh Cong, A. Bizet, O. Boyer, S. Woerner, O. Gribouval, E. Filhol, C. Arrondel, Sophie Thomas, F. Silbermann, G. Canaud, J. Hachicha, N. Ben Dhia, M. Peraldi, K. Harzallah, D. Iftene, L. Daniel, M. Willems, L. Noel, C. Bôle-Feysot, P. Nitschké, M. Gubler, G. Mollet, S. Saunier, C. Antignac   +23 more
semanticscholar   +1 more source

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2 [PDF]

, 2016
Manuel Méndez, María‐Isabel Moreno‐Carralero, Marta Morado‐Arias, María‐Cristina Fernández‐Jiménez, Silvia de la Iglesia, María‐Josefa Morán‐Jiménez   +5 more
openalex   +1 more source

Artificial intelligence strategies for predicting kinase inhibitor resistance: A comprehensive review of methods, challenges, and future perspectives

Journal of Intelligent Medicine, EarlyView.
Abstract Kinase inhibitors are essential in targeted cancer therapy, yet resistance often emerges through secondary mutations, activation of compensatory signaling pathways, or drug‐efflux mechanisms. Artificial intelligence (AI) provides a workflow‐based strategy rather than a list of unrelated tools for predicting and addressing kinase‐inhibitor ...
Faris Hassan, Mohanad Ali Deifallah, Alaa Zaghloul, Rania Elgohary   +3 more
wiley   +1 more source

A novel MKRN3 missense mutation causing familial precocious puberty.

Human Reproduction, 2014
L. D. Vries, L. Vries, G. Gat-Yablonski, G. Gat-Yablonski, N. Dror, N. Dror, A. Singer, Moshe Phillip, Moshe Phillip   +8 more
semanticscholar   +1 more source

Supplementary Table 6 from Analysis of Tumor-Associated AXIN1 Missense Mutations Identifies Variants That Activate β-Catenin Signaling [PDF]

Ruyi Zhang, Shanshan Li, Kelly Schippers, Yunlong Li, Boaz Eimers, Marla Lavrijsen, Ling Wang, Guofei Cui, Xin Chen, Maikel P. Peppelenbosch, Joyce H.G. Lebbink, Ron Smits   +11 more
openalex   +1 more source