Results 201 to 210 of about 125,953 (296)

Identifying a Novel Causal FAM83H Variant for Autosomal Dominant Amelogenesis Imperfecta Using Exome-Sequencing. [PDF]

Mol Genet Genomic Med
Kamps R, Martens H, de Koning B, Smeets B, van Geel M.   +4 more
europepmc   +1 more source

Exome sequencing for gene discovery: Time does not stand still [PDF]

, 2012
Mark S. LeDoux
openalex   +1 more source

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

Proteus syndrome exomes [PDF]

Nature Genetics, 2011
openaire   +2 more sources

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

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 a Novel Frameshift Mutation of the WRN Gene in a Werner Syndrome Family and Functional Analysis. [PDF]

Mol Genet Genomic Med
Xiong H, Gao H, Wan J, Xiao J, Luo X, Dong X, Wu Y, Liu T.   +7 more
europepmc   +1 more source

Exome sequencing reveals a novel Fanconi group defined by XRCC2 mutation: Figure 1 [PDF]

, 2012
Hanan E. Shamseldin, Mohamed Ahmed Elfaki, Fowzan S. Alkuraya   +2 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

The role of exome data reanalysis in clarifying <i>STXBP3</i> associated inflammatory bowel disease and hearing loss. [PDF]

Gastroenterol Rep (Oxf)
Ryba L, Lerchová T, Bronský J, Vlčková M.   +3 more
europepmc   +1 more source