Apaf-1: Regulation and function in cell death

R Shakeri, A Kheirollahi, J Davoodi - Biochimie, 2017 - Elsevier
Apoptosis, a form of programmed cell death, is responsible for eliminating damaged or
unnecessary cells in multicellular organisms. Various types of intracellular stress trigger …

The impact of human copy number variation on gene expression

ER Gamazon, BE Stranger - Briefings in functional genomics, 2015 - academic.oup.com
Recent years have witnessed a flurry of important technological and methodological
developments in the discovery and analysis of copy number variations (CNVs), which are …

Single-cell analysis highlights differences in druggable pathways underlying adaptive or fibrotic kidney regeneration

MS Balzer, T Doke, YW Yang, DL Aldridge… - Nature …, 2022 - nature.com
The kidney has tremendous capacity to repair after acute injury, however, pathways guiding
adaptive and fibrotic repair are poorly understood. We developed a model of adaptive and …

Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis

H Corvol, SM Blackman, PY Boëlle, PJ Gallins… - Nature …, 2015 - nature.com
The identification of small molecules that target specific CFTR variants has ushered in a new
era of treatment for cystic fibrosis (CF), yet optimal, individualized treatment of CF will require …

[HTML][HTML] Nicotinamide metabolism regulates glioblastoma stem cell maintenance

J Jung, LJY Kim, X Wang, Q Wu, T Sanvoranart… - JCI insight, 2017 - ncbi.nlm.nih.gov
Metabolic dysregulation promotes cancer growth through not only energy production, but
also epigenetic reprogramming. Here, we report that a critical node in methyl donor …

Cystic fibrosis disease modifiers: complex genetics defines the phenotypic diversity in a monogenic disease

WK O'Neal, MR Knowles - Annual review of genomics and …, 2018 - annualreviews.org
In many respects, genetic studies in cystic fibrosis (CF) serve as a paradigm for a human
Mendelian genetic success story. From recognition of the condition as a heritable …

Identification of sputum biomarkers predictive of pulmonary exacerbations in COPD

CR Esther Jr, WK O'Neal, WH Anderson, M Kesimer… - Chest, 2022 - Elsevier
Background Improved understanding of the pathways associated with airway
pathophysiologic features in COPD will identify new predictive biomarkers and novel …

[HTML][HTML] 5'-Methylthioadenosine and Cancer: old molecules, new understanding

Y Li, Y Wang, P Wu - Journal of Cancer, 2019 - ncbi.nlm.nih.gov
While the metabolic changes in cancer tissues were first observed by Warburg Otto almost a
century ago, altered metabolism has recently returned as a focus of cancer research. 5' …

Effector Protein Cig2 Decreases Host Tolerance of Infection by Directing Constitutive Fusion of Autophagosomes with the Coxiella-Containing Vacuole

LJ Kohler, SR Reed, SA Sarraf, DD Arteaga… - MBio, 2016 - Am Soc Microbiol
Coxiella burnetii replicates in an acidified lysosome-derived vacuole. Biogenesis of the
Coxiella-containing vacuole (CCV) requires bacterial effector proteins delivered into host …

An atlas of genetic variation linking pathogen-induced cellular traits to human disease

L Wang, KJ Pittman, JR Barker, RE Salinas… - Cell host & …, 2018 - cell.com
Pathogens have been a strong driving force for natural selection. Therefore, understanding
how human genetic differences impact infection-related cellular traits can mechanistically …