Results 51 to 60 of about 718,264 (305)

MAP1B mutations cause intellectual disability and extensive white matter deficit [PDF]

Nature Communications, 2018
AbstractDiscovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large
Gudmundur L. Norddhal, Unnur Unnsteinsdottir, Gudrun A. Jonsdottir, Evald Saemundsen, Magnus I. Magnusson, Gardar Sveinbjornsson, Patrick Sulem, Andres Ingason, Asgeir Sigurdsson, Lina Jonsson, Lina Jonsson, Adalbjorg Jonasdottir, Valgerdur K. Eiriksdottir, Hreinn Stefansson, G. Bragi Walters, G. Bragi Walters, Arni F. Gunnarsson, Stacy Steinberg, Kari Stefansson, Kari Stefansson, Amy L. Lee, Magnus O. Ulfarsson, Magnus O. Ulfarsson, Omar Gustafsson, Askell Love, Daniel F. Gudbjartsson, Daniel F. Gudbjartsson, Muhammad Nawaz, Muhammad Nawaz, Aslaug Jonasdottir, Astros Skuladottir, Mike Frigge, Mark Zervas, Arna B. Agustsdottir   +33 more
openaire   +4 more sources

White-matter abnormalities in presymptomaticGRNandC9orf72mutation carriers

Brain Communications, 2022
AbstractA large proportion of familial frontotemporal dementia is caused by TAR DNA-binding protein 43 (transactive response DNA-binding protein 43 kDa) proteinopathies. Accordingly, carriers of autosomal dominant mutations in the genes associated with TAR DNA-binding protein 43 aggregation, such as Chromosome 9 open reading frame 72 (C9orf72) or ...
Hyunwoo Lee, Ian R A Mackenzie, Mirza Faisal Beg, Karteek Popuri, Rosa Rademakers, Dana Wittenberg, Ging-Yuek Robin Hsiung   +6 more
openaire   +3 more sources

Cardiac manifestations of PRKAG2 mutation. [PDF]

, 2018
BACKGROUND:The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue.
Ardehali, Reza, Banankhah, Pooya, Dota, Anthony, Fishbein, Gregory A   +3 more
core   +1 more source

Inhibition of acyl‐CoA synthetase long‐chain isozymes decreases multiple myeloma cell proliferation and causes mitochondrial dysfunction

Molecular Oncology, EarlyView.
Triacsin C inhibition of the acyl‐CoA synthetase long chain (ACSL) family decreases multiple myeloma cell survival, proliferation, mitochondrial respiration, and membrane potential. Made with Biorender.com. Multiple myeloma (MM) is an incurable cancer of plasma cells with a 5‐year survival rate of 59%.
Connor S. Murphy, Heather Fairfield, Victoria E. DeMambro, Samaa Fadel, Carlos A. Gartner, Michelle Karam, Christian Potts, Princess Rodriguez, Ya‐Wei Qiang, Habib Hamidi, Xiangnan Guan, Calvin P. H. Vary, Michaela R. Reagan   +12 more
wiley   +1 more source

Integration of single‐cell and bulk RNA‐sequencing data reveals the prognostic potential of epithelial gene markers for prostate cancer

Molecular Oncology, EarlyView.
Prostate cancer is a leading malignancy with significant clinical heterogeneity in men. An 11‐gene signature derived from dysregulated epithelial cell markers effectively predicted biochemical recurrence‐free survival in patients who underwent radical surgery or radiotherapy.
Zhuofan Mou, Lorna W. Harries
wiley   +1 more source

Exact phase diagram of quasispecies model with mutation rate modifier [PDF]

Phys. Rev. Lett. 102, 038101 (2009), 2008
We consider an infinite asexual population with a mutator allele which can elevate mutation rates. With probability $f$, a transition from nonmutator to mutator state occurs but the reverse transition is forbidden. We find that at $f=0$, the population is in the state with minimum mutation rate and at $f=f_c$, a phase transition occurs between a mixed ...
arxiv   +1 more source

Identification of novel therapeutic targets in the PI3K/AKT/mTOR pathway in hepatocellular carcinoma using targeted next generation sequencing. [PDF]

, 2014
Understanding genetic aberrations in cancer leads to discovery of new targets for cancer therapies. The genomic landscape of hepatocellular carcinoma (HCC) has not been fully described. Therefore, patients with refractory advanced/metastatic HCC referred
Janku, Filip, Kaseb, Ahmed O, Kurzrock, Razelle, Tsimberidou, Apostolia M, Wolff, Robert A   +4 more
core   +3 more sources

Etoposide‐induced cancer cell death: roles of mitochondrial VDAC1 and calpain, and resistance mechanisms

Molecular Oncology, EarlyView.
The complex mode of action of the topoisomerase II inhibitor etoposide in triggering apoptosis involves several mechanisms: overexpression of the mitochondrial protein VDAC1, leading to its oligomerization and formation of a large channel that mediates the release of pro‐apoptotic protein; and overexpression of the apoptosis regulators p53, Bax, and ...
Aditya Karunanithi Nivedita, Varda Shoshan‐Barmatz   +1 more
wiley   +1 more source

A plasmid-based lacZα gene assay for DNA polymerase fidelity measurement [PDF]

, 2013
A significantly improved DNA polymerase fidelity assay, based on a gapped plasmid containing the lacZα reporter gene in a single-stranded region, is described.
Connolly, Bernard A, Jozwiakowski, Stanislaw K, Keith, Brian J   +2 more
core   +1 more source

Molecular and functional profiling unravels targetable vulnerabilities in colorectal cancer

Molecular Oncology, EarlyView.
We used whole exome and RNA‐sequencing to profile divergent genomic and transcriptomic landscapes of microsatellite stable (MSS) and microsatellite instable (MSI) colorectal cancer. Alterations were classified using a computational score for integrative cancer variant annotation and prioritization.
Efstathios‐Iason Vlachavas, Konstantinos Voutetakis, Vivian Kosmidou, Spyridon Tsikalakis, Spyridon Roditis, Konstantinos Pateas, Ryangguk Kim, Kymberleigh Pagel, Stephan Wolf, Gregor Warsow, Antonia Dimitrakopoulou‐Strauss, Georgios N. Zografos, Alexander Pintzas, Johannes Betge, Olga Papadodima, Stefan Wiemann   +15 more
wiley   +1 more source