Results 141 to 150 of about 13,340,828 (402)

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

Childhood Obesity and Familial Hypercholesterolemia: Genetic Diseases that Contribute to Cardiovascular Disease [PDF]

, 2014
Childhood obesity occurs as the result of an imbalance between caloric intake and energy expenditure. Genetic risk factors for obesity have become an area of research due to its permanency.
Caudle, Alyssa
core   +1 more source

Opportunities for developing therapies for rare genetic diseases: focus on gain-of-function and allostery

Orphanet Journal of Rare Diseases, 2017
BackgroundAdvances in next generation sequencing technologies have revolutionized our ability to discover the causes of rare genetic diseases. However, developing treatments for these diseases remains challenging.
Binbin Chen, R. Altman
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

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ‐thalassemia and δ‐globin gene mutations in Southerwestern China

Molecular Genetics & Genomic Medicine, 2019
Background Deletional hereditary persistence of fetal hemoglobin (HPFH)/δβ‐thalassemia and δ‐thalassemia are rare inherited disorders which may complicate the diagnosis of β‐thalassemia.
Jie Zhang, Yang Yang, Peng Li, Yuanlong Yan, Tao Lv, Tingting Zhao, Xiaohong Zeng, Dongmei Li, Xiaoyan Zhou, Hong Chen, Jie Su, Tonghua Yang, Jing He, Baosheng Zhu   +13 more
doaj   +1 more source

Cellular deconvolution of GTEx tissues powers discovery of disease and cell-type associated regulatory variants. [PDF]

, 2020
The Genotype-Tissue Expression (GTEx) resource has provided insights into the regulatory impact of genetic variation on gene expression across human tissues; however, thus far has not considered how variation acts at the resolution of the different cell ...
D'Antonio, Matteo, D'Antonio-Chronowska, Agnieszka, Donovan, Margaret KR, Frazer, Kelly A   +3 more
core  

Cystinuria: biochemical evidence for three genetically distinct diseases. [PDF]

, 1966
Leah Rosenberg, Sylvia J. Downing, J. L. Durant, Stanton Segal   +3 more
openalex   +1 more source

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Genome Medicine, 2015
While the cost of whole genome sequencing (WGS) is approaching the realm of routine medical tests, it remains too tardy to help guide the management of many acute medical conditions.
Neil A. Miller, E. Farrow, M. Gibson, L. Willig, Greyson Twist, B. Yoo, Tyler Marrs, Shane Corder, L. Krivohlavek, Adam M. Walter, J. Petrikin, Carol J. Saunders, I. Thiffault, S. Soden, Laurie D. Smith, D. Dinwiddie, Suzanne M. Herd, Julie A. Cakici, S. Catreux, M. Ruehle, S. Kingsmore   +20 more
semanticscholar   +1 more source

Genetics of Alzheimer's Disease [PDF]

Dementia and Neurocognitive Disorders, 2018
Alzheimer's disease (AD) related genes have been elucidated by advanced genetic techniques. Familial autosomal dominant AD genes founded by linkage analyses are APP, PSEN1, PSEN2, ABCA7, and SORL1. Genome-wide association studies have found risk genes such as ABCA7, BIN1, CASS4, CD33, CD2AP, CELF1, CLU, CR1, DSG2, EPHA1, FERMT2, HLA-DRB5-HLA-DRB1 ...
openaire   +3 more sources

Mechanisms and kinetic assays of aminoacyl‐tRNA synthetases

FEBS Letters, EarlyView.
Igor Zivkovic, Morana Dulic, Ita Gruic‐Sovulj   +2 more
wiley   +1 more source