Results 211 to 220 of about 1,861,621 (385)

Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276

FEBS Open Bio, EarlyView.
Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig, Swanhild Lohse, Sara Elahi, Nils Hartmann, Stefanie Deckert, Shutian Si, Alexander Desuki, Anja Harder   +7 more
wiley   +1 more source

Germline and somatic mutations in histologically atypical congenital hyperinsulinism. [PDF]

Front Endocrinol (Lausanne)
Larsen AR, Globa E, Andersen DC, Limbert C, Mattsson ÅL, Nielsen AL, Mortensen MB, Hejbøl EK, Brusgaard K, Detlefsen S, Christesen HT.   +10 more
europepmc   +1 more source

ATP13A2 is involved in intracellular polyamine transport in lung epithelial cells

FEBS Open Bio, EarlyView.
Spermidine transport in lung epithelial cells involves the polyamine transporter ATP13A2. Cell proliferation is associated with the upregulation of ATP13A2. Polyamines are present in all living cells and are implicated in various crucial cellular processes such as proliferation, apoptosis and autophagy.
Yuta Hatori, Kohei Kawabata, Takanori Kubo, Takeo Kitazawa, Sae Kanai, Madoka Iwashita, Ami Hayashi, Hiroyuki Nishi, Mikihisa Takano   +8 more
wiley   +1 more source

Panorama: a database for the oncogenic evaluation of somatic mutations in pan-cancer. [PDF]

Database (Oxford)
Park SJ, Kim SY.
europepmc   +1 more source

Stem cell divisions, somatic mutations, cancer etiology, and cancer prevention

Science, 2017
C. Tomasetti, Lu Li, B. Vogelstein
semanticscholar   +1 more source

FGFR Like1 drives esophageal cancer progression via EMT, PI3K/Akt, and notch signalling: insights from clinical data and next‐generation sequencing analysis

FEBS Open Bio, EarlyView.
Clinical analysis reveals significant dysregulation of FGFRL1 in esophageal cancer (EC) patients. RNAi‐coupled next‐generation sequencing (NGS) and in vitro study reveal FGFRL1‐mediated EC progression via EMT, PI3K/Akt, and Notch pathways. Functional assays confirm its role in tumor growth, migration, and invasion.
Aprajita Srivastava, Anoop Saraya, Deepak Gunjan, Rinu Sharma   +3 more
wiley   +1 more source

Branching architecture limits the number of fixed somatic mutations in trees. [PDF]

G3 (Bethesda)
Johannes F.
europepmc   +1 more source

KLK7 overexpression promotes an aggressive phenotype and facilitates peritoneal dissemination in colorectal cancer cells

FEBS Open Bio, EarlyView.
KLK7, a tissue kallikrein‐related peptidase, is elevated in advanced colorectal cancer and associated with shorter survival. High KLK7 levels in ascites correlate with peritoneal metastasis. In mice, KLK7 overexpression increases metastasis. In vitro, KLK7 enhances cancer cell proliferation, migration, adhesion, and spheroid formation, driving ...
Yosr Z. Haffani, Tobias Dreyer, Meriem Naim, Rea Lo Dico, Natalia A. Ignatenko, Viktor Magdolen, Dalila Darmoul   +6 more
wiley   +1 more source

High burden and pervasive positive selection of somatic mutations in normal human skin

Science, 2015
I. Martincorena, A. Roshan, M. Gerstung, P. Ellis, P. van Loo, Stuart Mclaren, D. Wedge, A. Fullam, Ludmil B. Alexandrov, J. Tubío, L. Stebbings, A. Menzies, S. Widaa, M. Stratton, P. Jones, P. Campbell   +15 more
semanticscholar   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source