Results 221 to 230 of about 1,540,335 (330)

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

Structural Analysis of Missense Mutations on the Stability of APOE3 and APOE4. [PDF]

Genes (Basel)
Anthony M, Xie Y, O'Neil JN, Teng S.
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

Significance of a Three-Missense Pathogenic Variant in the Substrate-Binding Lesion in a Subject With 21-Hydroxylase Deficiency: A Case Report. [PDF]

Cureus
Harada A, Anno T, Isobe H, Kaku K, Kaneto H.   +4 more
europepmc   +1 more source

CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language [PDF]

, 2018
Fiala, Elise, Willing, Marcia
core   +1 more source

Mutations in sphingosine-1-phosphate lyase cause nephrosis with ichthyosis and adrenal insufficiency [PDF]

, 2017
Connolly, Anne M, Cooper, Megan A, Dharnidharka, Vikas R, et al,, Willing, Marcia C   +4 more
core   +2 more sources

Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed

Human Mutation, 2011
S. Hicks, D. Wheeler, S. Plon, M. Kimmel
semanticscholar   +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

Genetic and clinical determinants of neonatal jaundice and growth patterns in the Qingdao birth cohort: A genome-wide association study. [PDF]

PLoS One
Chen X, Du P, Li S, Wang X, Xu M, Chu Z, Zhang Y, Yao Z, Huan X, Huang Y, Fang M, Gao Y, Fan G, Jin X, Huang H, Pan S.   +15 more
europepmc   +1 more source

Epigenetic inflammatory memory and periodontal disease: Mechanisms and clinical significance for comorbidities

Journal of Periodontology, EarlyView.
Abstract Historically, immunological memory was considered an exclusive feature of adaptive immunity. However, innate immune cells have recently been shown to record and maintain epigenetically imprinted memory of earlier infectious or inflammatory challenges.
George Hajishengallis
wiley   +1 more source