Results 231 to 240 of about 207,257 (328)

Regulation of Chondrocyte Metabolism and Osteoarthritis Development by Sirt5 Through Protein Lysine Malonylation

Arthritis &Rheumatology, EarlyView.
Objective Chondrocytemetabolic dysfunction plays an important role in osteoarthritis (OA) development during aging and obesity. Protein posttranslational modifications (PTMs) have recently emerged as an important regulator of cellular metabolism. We aim to study one type of PTM, lysine malonylation (MaK), and its regulator sirtuin 5 (Sirt5) in OA ...
Huanhuan Liu, Anupama Binoy, Siqi Ren, Thomas C. Martino, Anna E. Miller, Craig R. G. Willis, Shivakumar R. Veerabhadraiah, Joanna Bons, Jacob P. Rose, Birgit Schilling, Michael J. Jurynec, Shouan Zhu   +11 more
wiley   +1 more source

Zinner syndrome: report of a case and whole exome sequencing. [PDF]

Basic Clin Androl
He J, Wei C, Huang Y, Xu F, Wang M, Chen Z.   +5 more
europepmc   +1 more source

Protein‐Altering Variants' Analysis in Autism Subgroups Uncovers Early Brain‐Expressed Gene Modules Relevant to Autism Pathophysiology

Autism Research, EarlyView.
ABSTRACT Understanding the functional implications of genes' variants in autism heterogeneity is challenging. Gene set analysis examines the cumulative effect of multiple functionally converging genes. Here we explored whether a multi‐step analysis could identify gene sets with different loads of protein‐altering variants (PAVs) between two subgroups ...
Gaia Scaccabarozzi, Luca Fumagalli, Maddalena Mambretti, Roberto Giorda, Marco Villa, Silvia Busti Ceccarelli, Laura Villa, Elisa Mani, Maria Nobile, Massimo Molteni, Uberto Pozzoli, Alessandro Crippa   +11 more
wiley   +1 more source

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

, 2012
Isabelle Audo, Kinga M. Bujakowska, Elise Orhan, Charlotte M. Poloschek, Sabine Defoort‐Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D. Luu, Odile Lecompte, Eberhart Zrenner, Marie‐Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean‐Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand‐Saïd, Birgit Lorenz, Christoph Friedburg, Markus N. Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova‐Doumanova, Wolfgang Berger, Bernd Wissinger, Christian Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylène Le Meur, Ingele Casteels, Robert K. Koenekoop, Vernon Long, Françoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim T. Nguyen-Ba-Charvet, José‐Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz   +51 more
openalex   +1 more source

Whole-exome sequencing of a pedigree segregating asthma [PDF]

, 2012
Andrew T. DeWan, Kathryn B. Egan, Karen Hellenbrand, Keli Sorrentino, Nicole Pizzoferrato, Kyle M. Walsh, Michael B. Bracken   +6 more
openalex   +1 more source

Low RYR2 Level Relates to Poor Prognosis of Patients With Lung Adenocarcinoma by Promoting Tumor Cell Proliferation and Inhibiting Immune Cell Infiltration

Biotechnology and Applied Biochemistry, EarlyView.
ABSTRACT Ryanodine receptor type 2 (RYR2) is a large calcium channel that has been identified as one of the most frequently mutated genes in lung adenocarcinoma (LUAD). Despite its potential significance, the role of RYR2 in LUAD remains poorly understood.
Tao Wang, Baozhen Wang, Zhongting Lu, Tao Li   +3 more
wiley   +1 more source

GENOMICON-Seq enables realistic simulation of amplicon and exome sequencing for low-frequency mutation detection. [PDF]

Sci Rep
Stosic MS, Costanzi JM, Ambur OH, Rounge TB.   +3 more
europepmc   +1 more source

FIRST PHARMACOGENOMIC ANALYSIS USING WHOLE EXOME SEQUENCING TO IDENTIFY NOVEL GENETIC DETERMINANTS OF CLOPIDOGREL RESPONSE VARIABILITY: RESULTS OF THE GENOTYPE INFORMATION AND FUNCTIONAL TESTING (GIFT) EXOME STUDY

, 2012
Matthew J. Price, Andrew R. Carson, Sarah S. Murray, Tierney Phillips, L Huffman Janel, Rebecca L. Tisch, Eric J. Topol, Samuel Lévy   +7 more
openalex   +1 more source

Pharmacogenomics in the UK National Health Service: Progress towards implementation

British Journal of Clinical Pharmacology, EarlyView.
Over the past decade there has been considerable and growing enthusiasm about the promise of using genomics to inform healthcare. In particular, using genetic data to inform prescribing practice has emerged as a compelling policy priority for health systems around the world, not least in the NHS.
John H. McDermott, Maria Tsakiroglou, William G. Newman, Munir Pirmohamed   +3 more
wiley   +1 more source

Pan‐cancer analysis shapes the understanding of cancer biology and medicine

Cancer Communications, EarlyView.
Abstract Advances in multi‐omics datasets and analytical methods have revolutionized cancer research, offering a comprehensive, pan‐cancer perspective. Pan‐cancer studies identify shared mechanisms and unique traits across different cancer types, which are reshaping diagnostic and treatment strategies.
Xiaoping Cen, Yuanyuan Lan, Jiansheng Zou, Ruilin Chen, Can Hu, Yahan Tong, Chen Zhang, Jingyue Chen, Yuanmei Wang, Run Zhou, Weiwei He, Tianyu Lu, Fred Dubee, Dragomirka Jovic, Wei Dong, Qingqing Gao, Man Ma, Youyong Lu, Yu Xue, Xiangdong Cheng, Yixue Li, Huanming Yang   +21 more
wiley   +1 more source