Results 41 to 50 of about 233,128 (302)

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

, 2014
Two megalencephaly (MEG) syndromes, megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyriapolydactyly?-hydrocephalus(MPPH), have recently been defined on the basis of physical and neuroimaging features.
Cross, Nicholas C. P., Hidalgo-Curtis, Claire, Claire Hidalgo-Curtis (518402), Score, Joannah, Gibson, Jane, Sarah Ennis, Jane Gibson, I Karen Temple, Andrew Collins, Andrew Collins (63814), Nicola Foulds, Paula Aranaz (518400), Foulds, Nicola, Claire Hidalgo-Curtis, I. Karen Temple (518404), Sarah Ennis (435142), David O. Robinson (518403), Temple, I. Karen, William J Tapper, Paula Aranaz, Collins, Andrew, Joannah Score, Nicola Foulds (518399), Joannah Score (518401), Tapper, William J., Robinson, David O., William J. Tapper (518398), Ennis, Sarah, David O Robinson, Aranaz, Paula, Nicholas C P Cross, Jane Gibson (497328), Nicholas C. P. Cross (185184)   +32 more
core   +1 more source

Potential immunosuppressive clonal hematopoietic mutations in tumor infiltrating immune cells in breast invasive carcinoma

Scientific Reports, 2023
A hallmark of cancer is a tumor cell’s ability to evade immune destruction. Somatic mutations in tumor cells that prevent immune destruction have been extensively studied.
Ramu Anandakrishnan, Ian J. Zyvoloski, Lucas R. Zyvoloski, Nana K. Opoku, Andrew Dai, Veneeth Antony   +5 more
doaj   +1 more source

Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data

Frontiers in Aging, 2022
Somatic mutations are DNA variants that occur after the fertilization of zygotes and accumulate during the developmental and aging processes in the human lifespan.
August Yue Huang, Eunjung Alice Lee
doaj   +1 more source

Gain-of-function oncogenic mutations in TP53 enhance defined factor-mediated cellular reprogramming

, 2011
Cancer is a disorder with various genetic and epigenetic alterations. Genetic alterations such as mutations, i.e., substitutions, amplifications, and deletions of nucleotide sequences, are largely irreversible, whereas epigenetic alterations can be ...
Kazuyoshi Yamamoto, Yoshiyuki Fujiwara, Hideshi Ishii, Yoshihiro Kano, Masaki Mori, Dyah Laksmi Dewi, Jeong Ho Moon, Shinpei Nishikawa, Yuichiro Doki   +8 more
core   +1 more source

Delineation of the Germline and Somatic Mutation Interaction Landscape in Triple-Negative and Non-Triple-Negative Breast Cancer

International Journal of Genomics, 2020
Background. Breast cancer development and progression involve both germline and somatic mutations. High-throughput genotyping and next-generation sequencing technologies have enabled discovery of genetic risk variants and acquired somatic mutations ...
Jiande Wu, Tarun K. K. Mamidi, Lu Zhang, Chindo Hicks   +3 more
doaj   +1 more source

Aging and the rise of somatic cancer-associated mutations in normal tissues. [PDF]

PLoS Genetics, 2018
DNA mutations are inevitable. Despite proficient DNA repair mechanisms, somatic cells accumulate mutations during development and aging, generating cells with different genotypes within the same individual, a phenomenon known as somatic mosaicism.
Rosa Ana Risques, Scott R Kennedy
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Low frequency of somatic mutations in the FH/multiple cutaneous leiomyomatosis gene in sporadic leiomyosarcomas and uterine leiomyomas.

, 2002
Germline mutations in the fumarate hydratase gene at 1q43 predispose to dominantly inherited skin and uterine leiomyomata and leiomyosarcomas. The enzyme, which is a component of the tricarboxylic acid cycle, acts as a tumour suppressor.
Flanagan, AM, S Bevan, C Fisher, Houlston, RS, C J Finlayson, R Wang, Y-J Lu, J Shipley, R S Houlston, J A Bridge, Bridge, JA, K T Barker, Barker, KT, Fisher, C, Finlayson, CJ, A M Flanagan, Shipley, J, Bevan, S, Wang, R, Lu, YJ   +19 more
core   +1 more source

Gene expression analyses on skin lesions from patients with familial adenomatous polyposis [PDF]

, 2014
Familial adenomatous polyposis coli (FAP) is an autosomal dominant colorectal cancer predisposition syndrome caused by germline mutations in the APC gene.
Stegmann, Danielle Alexandra
core   +1 more source

Interactions between Germline and Somatic Mutated Genes in Aggressive Prostate Cancer

Prostate Cancer, 2019
Prostate cancer (PCa) is the most common diagnosed malignancy and the second leading cause of cancer-related deaths among men in the USA. Advances in high-throughput genotyping and next generation sequencing technologies have enabled discovery of ...
Tarun Karthik Kumar Mamidi, Jiande Wu, Chindo Hicks   +2 more
doaj   +1 more source