Telomeres are specialized nucleoprotein structures at the ends of linear chromosomes that
prevent the activation of DNA damage response and repair pathways. Numerous factors …

Telomerase is a ribonucleoprotein complex, the catalytic core of which includes the
telomerase reverse transcriptase (TERT) and the non-coding human telomerase RNA (hTR) …

Parenchymal lung disease is the fourth leading cause of death in the United States; among
the top causes, it continues on the rise. Telomeres and telomerase have historically been …

Telomere length in humans is associated with lifespan and severe diseases, yet the genetic
determinants of telomere length remain incompletely defined. Here we performed genome …

Heterozygous mutations in four telomere-related genes have been linked to pulmonary
fibrosis, but little is known about similarities or differences of affected individuals. 115 …

ABSTRACT Introduction: Telomere biology disorders (TBDs) encompass a group of
illnesses caused by germline mutations in genes regulating telomere maintenance, resulting …

The RNA exosome is fundamental for the degradation of RNA in eukaryotic nuclei. Substrate
targeting is facilitated by its co-factor Mtr4p/hMTR4, which links to RNA-binding protein …

RNA–protein interactions underlie a wide range of cellular processes. Improved methods
are needed to systematically map RNA–protein interactions in living cells in an unbiased …

Rationale: Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung
disease of unknown etiology. Objectives: The aim of this study was to use whole-exome …

Background: The utility of whole-exome sequencing (WES) for the diagnosis and
management of adult-onset constitutional disorders has not been adequately studied …