Short Telomere Syndromes in Clinical Practice: Bridging Bench …
May 24, 2018 · Short telomere syndromes (STSs) are accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. Consequently, organ systems with increased cell turnover, such as the skin, bone marrow, lungs, and gastrointestinal tract, are commonly affected.
When the shoelaces fray: short telomere syndromes
Mar 28, 2019 · Abnormal telomere shortening results in accelerated-aging syndromes that affect many parts of the body and can occur in children or adults. The severity of short telomere syndromes varies, but they increase cancer risk and can lead to organ failure and death.
Extrahematopoietic manifestations of the short telomere syndromes
Dec 4, 2020 · The pediatric and adult telomere phenotypes of bone marrow failure and pulmonary fibrosis have recently been found to share germline defects in telomere maintenance. 14,15 For this review, we refer to them as the “short telomere syndromes” to both indicate their underlying molecular defect and signify the frequent co-occurring syndromic ...
Short telomere syndromes (STSs) are accelerated aging syndromes often caused by inheritable gene mutations resulting in decreased telomere lengths. Consequently, organ systems with increased cell turnover, such as the skin, bone marrow, lungs, and gastrointestinal tract, are commonly affected.
Syndromes of Telomere Shortening - PMC
Mutations in telomerase and telomere genes lead to a broad clinical spectrum of syndromes of telomere shortening. IPF refers to idiopathic pulmonary fibrosis. DC refers to dyskeratosis congenita.
Science Saturday: Short telomere syndromes are like frayed …
Apr 20, 2019 · Abnormal telomere shortening results in accelerated-aging syndromes that affect many parts of the body and can occur in children or adults. The severity of short telomere syndromes varies, but they increase cancer risk and can lead to organ failure and death.
The telomere syndromes | Nature Reviews Genetics
Sep 11, 2012 · Mutations in telomerase and telomere gene components manifest as diverse clinical syndromes that vary in severity but share a single common molecular defect of shortened telomeres. Telomere...
The telomere syndromes - PMC - PubMed Central (PMC)
Although these disorders seem to be clinically diverse, collectively they comprise a single syndrome spectrum defined by the short telomere defect. Here we review the manifestations and unique genetics of telomere syndromes.
Clinical Correlates and Treatment Outcomes for Patients With Short …
Short telomere syndromes (STSs) are accelerated aging syndromes with multisystemic manifestations that present complex management challenges. In this article, we discuss a single-institution experience in diagnosing and managing patients with inherited STSs.
Telomeres in Interstitial Lung Disease: The Short and the Long …
In conjunction with environmental factors, common single-nucleotide polymorphisms and rare and ultra-rare telomere-related mutations are associated with accelerated telomere shortening resulting in organ dysfunction, including interstitial lung disease (ILD).