Results 111 to 120 of about 795,608 (343)

Frequency and geographic distribution of TERT promoter mutations in primary hepatocellular carcinoma

Infectious Agents and Cancer, 2017
Primary hepatocellular carcinoma (HCC) mainly develops in subjects chronically infected with hepatitis B (HBV) and C (HCV) viruses through a multistep process characterized by the accumulation of genetic alterations in the human genome.
Francesca Pezzuto, Luigi Buonaguro, Franco M. Buonaguro, Maria Lina Tornesello   +3 more
doaj   +1 more source

The anabolic steroid stanozolol is a potent inhibitor of human MutT homolog 1

FEBS Letters, EarlyView.
MutT homolog 1 (MTH1) is a member of the NUDIX superfamily of enzymes and is an anticancer drug target. We show that stanozolol (Stz), an anabolic steroid, is an unexpected nanomolar inhibitor of MTH1. The X‐ray crystal structure of the human MTH1–Stz complex reveals a unique binding scaffold that could be utilized for future inhibitor development ...
Emma Scaletti Hutchinson, Robert Gustafsson Westergren, Ingrid Almlöf, Ann‐Sofie Jemth, Martin Scobie, Ulrika Warpman Berglund, Thomas Helleday, Pål Stenmark   +7 more
wiley   +1 more source

Single Nucleotide Polymorphisms: A Deep Consideration of Protein Sequence Variation [PDF]

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd
Introduction: Human genome consists of the three billion base pairs that has about one percent of genetic variation from one person to another، which determines physical، psychological، and susceptibility to diseases. Among the types of genetic diversity,
Majid Marzban Sarnaghi, Deniz Farzad, Reza Gholikhani Darbroud, Zafar Gholinejad   +3 more
doaj  

Locus‐specific concordance of genomic alterations between tissue and plasma circulating tumor DNA in metastatic melanoma

Molecular Oncology, 2019
Circulating tumor DNA (ctDNA) may serve as a surrogate to tissue biopsy for noninvasive identification of mutations across multiple genetic loci and for disease monitoring in melanoma.
Leslie Calapre, Tindaro Giardina, Cleo Robinson, Anna L. Reid, Zeyad Al‐Ogaili, Michelle R. Pereira, Ashleigh C. McEvoy, Lydia Warburton, Nicholas K. Hayward, Muhammad A. Khattak, Tarek M. Meniawy, Michael Millward, Benhur Amanuel, Melanie Ziman, Elin S. Gray   +14 more
doaj   +1 more source

Cloning and characterization of the promoter regions of the human parathyroid hormone (PTH)/PTH-related peptide receptor gene: analysis of deoxyribonucleic acid from normal subjects and patients with pseudohypoparathyroidism type 1b.

Journal of Clinical Endocrinology and Metabolism, 1997
Expression of the PTH/PTH-related peptide (PTHrP) receptor (PTHR) in the mouse is controlled by at least two promoters. The downstream promoter (P2) is ubiquitously expressed, whereas expression of the upstream promoter (P1) is largely restricted to ...
J. D. Bettoun, M. Minagawa, M. Minagawa, M. Kwan, Han-Soo Lee, T. Yasuda, G. Hendy, David Goltzman, John H. White   +8 more
semanticscholar   +1 more source

Mycobacterium tuberculosis sulfurtransferase SseA is activated by its neighboring gene product Rv3284

FEBS Letters, EarlyView.
Tuberculosis remains a global health challenge and new therapeutic targets are required. Here, we characterized SseA, a sulfurtransferase from Mycobacterium tuberculosis involved in macrophage infection, and its interaction with the newly identified protein SufEMtb that activates SseA enzymatic activity.
Giulia Di Napoli, Alex Fissore, Edoardo Salladini, Eleonora Raccuia, Simonetta Oliaro‐Bosso, Alessia Ruggiero, Rita Berisio, Milagros Medina, Adrian Velazquez‐Campoy, Salvatore Adinolfi, Mauro Marengo   +10 more
wiley   +1 more source

Multiple Changes Underlie Allelic Divergence of CUP2 Between Saccharomyces Species

G3: Genes, Genomes, Genetics, 2019
Under the model of micromutationism, phenotypic divergence between species is caused by accumulation of many small-effect changes. While mapping the causal changes to single nucleotide resolution could be difficult for diverged species, genetic ...
Xueying C. Li, Justin C. Fay
doaj   +1 more source

Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers. [PDF]

, 2019
Although promoter-associated CpG islands have been established as targets of DNA methylation changes in cancer, previous studies suggest that epigenetic dysregulation outside the promoter region may be more closely associated with transcriptional changes.
Ando, Mizuo, Bui, Nam Q, Califano, Joseph A, Favorov, Alexander V, Fertig, Elana J, Fisch, Kathleen, Fukusumi, Takahito, Gaykalova, Daria A, Guo, Theresa, Ha, Patrick, Haft, Sunny, Ideker, Trey, Liu, Chao, Mark, Adam, Medetgul-Ernar, Kate, Messer, Karen, Pang, John, Pu, Minya, Ren, Shuling, Saito, Yuki, Sakai, Akihiro, Tamayo, Pablo, Xu, Guorong, Yamasoba, Tatsuya, Yegnasubramanian, Srinivasan   +24 more
core  

BDNF genetic variants and methylation: effects on cognition in major depressive disorder

Translational Psychiatry, 2019
Brain-derived neurotrophic factor (BDNF) gene regulation has been linked to the pathophysiology of major depressive disorder (MDD). MDD patients show cognitive deficits, and altered BDNF regulation has a relevant role in neurocognitive functions.
Alex Ferrer, J. Labad, N. Salvat-Pujol, M. Barrachina, J. Costas, M. Urretavizcaya, A. de Arriba-Arnau, J. Crespo, C. Soriano-Mas, Á. Carracedo, J. Menchón, V. Soria   +11 more
semanticscholar   +1 more source

Aβ42 promotes the aggregation of α‐synuclein splice isoforms via heterogeneous nucleation

FEBS Letters, EarlyView.
The aggregation of amyloid‐β (Aβ) and α‐synuclein (αSyn) is associated with Alzheimer's and Parkinson's diseases. This study reveals that Aβ aggregates serve as potent nucleation sites for the aggregation of αSyn and its splice isoforms, shedding light on the intricate interplay between these two pathogenic proteins.
Alexander Röntgen, Zenon Toprakcioglu, Michele Vendruscolo   +2 more
wiley   +1 more source