DNA damage—how and why we age?

M Yousefzadeh, C Henpita, R Vyas, C Soto-Palma… - Elife, 2021 - elifesciences.org
Aging is a complex process that results in loss of the ability to reattain homeostasis following
stress, leading, thereby, to increased risk of morbidity and mortality. Many factors contribute …

The diagnosis and management of lipodystrophy syndromes: a multi-society practice guideline

RJ Brown, D Araujo-Vilar, PT Cheung… - The Journal of …, 2016 - academic.oup.com
Objective: Lipodystrophy syndromes are extremely rare disorders of deficient body fat
associated with potentially serious metabolic complications, including diabetes …

[PDF][PDF] ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents

AT Hattersley, SAW Greeley, M Polak… - 2018 - ore.exeter.ac.uk
Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …

[HTML][HTML] ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents

SAW Greeley, M Polak, PR Njølstad, F Barbetti… - Pediatric …, 2022 - ncbi.nlm.nih.gov
ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Recent progress in genetics, epigenetics and metagenomics unveils the pathophysiology of human obesity

M Pigeyre, FT Yazdi, Y Kaur, D Meyre - Clinical science, 2016 - portlandpress.com
In high-, middle-and low-income countries, the rising prevalence of obesity is the underlying
cause of numerous health complications and increased mortality. Being a complex and …

Nuclear genomic instability and aging

LJ Niedernhofer, AU Gurkar, Y Wang… - Annual review of …, 2018 - annualreviews.org
The nuclear genome decays as organisms age. Numerous studies demonstrate that the
burden of several classes of DNA lesions is greater in older mammals than in young …

Werner syndrome: clinical features, pathogenesis and potential therapeutic interventions

J Oshima, JM Sidorova, RJ Monnat Jr - Ageing research reviews, 2017 - Elsevier
Werner syndrome (WS) is a prototypical segmental progeroid syndrome characterized by
multiple features consistent with accelerated aging. It is caused by null mutations of the …

[HTML][HTML] Update on genetic predisposition to colorectal cancer and polyposis

L Valle, RM de Voer, Y Goldberg, W Sjursen… - Molecular aspects of …, 2019 - Elsevier
The present article summarizes recent developments in the characterization of genetic
predisposition to colorectal cancer (CRC). The main themes covered include new hereditary …

Diagnosis and treatment of lipodystrophy: a step-by-step approach

D Araújo-Vilar, F Santini - Journal of endocrinological investigation, 2019 - Springer
Aim Lipodystrophy syndromes are rare heterogeneous disorders characterized by
deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe …

Stepwise requirements for polymerases δ and θ in theta-mediated end joining

S Stroik, J Carvajal-Garcia, D Gupta, A Edwards… - Nature, 2023 - nature.com
Timely repair of chromosomal double-strand breaks is required for genome integrity and
cellular viability. The polymerase theta-mediated end joining pathway has an important role …