The genetics of human ageing

D Melzer, LC Pilling, L Ferrucci - Nature Reviews Genetics, 2020 - nature.com
The past two centuries have witnessed an unprecedented rise in human life expectancy.
Sustaining longer lives with reduced periods of disability will require an understanding of the …

Germline risk of clonal haematopoiesis

AJ Silver, AG Bick, MR Savona - Nature Reviews Genetics, 2021 - nature.com
Clonal haematopoiesis (CH) is a common, age-related expansion of blood cells with
somatic mutations that is associated with an increased risk of haematological malignancies …

Rare SH2B3 coding variants in lupus patients impair B cell tolerance and predispose to autoimmunity

Y Zhang, R Morris, GJ Brown, AMD Lorenzo… - Journal of Experimental …, 2024 - rupress.org
Systemic lupus erythematosus (SLE) is a heterogeneous autoimmune disease with a clear
genetic component. While most SLE patients carry rare gene variants in lupus risk genes …

LNK/SH2B3 loss of function increases susceptibility to murine and human atrial fibrillation

MB Murphy, Z Yang, T Subati… - Cardiovascular …, 2024 - academic.oup.com
Aims The lymphocyte adaptor protein (LNK) is a negative regulator of cytokine and growth
factor signalling. The rs3184504 variant in SH2B3 reduces LNK function and is linked to …

[HTML][HTML] Critical role of IL-21 and T follicular helper cells in hypertension and vascular dysfunction

BL Dale, AK Pandey, Y Chen, CD Smart… - JCI insight, 2019 - ncbi.nlm.nih.gov
T and B cells have been implicated in hypertension, but the mechanisms by which they
produce a coordinated response is unknown. T follicular helper (Tfh) cells that produce IL-21 …

Multimodality imaging-based characterization of regional material properties in a murine model of aortic dissection

MR Bersi, VA Acosta Santamaría, K Marback… - Scientific reports, 2020 - nature.com
Chronic infusion of angiotensin-II in atheroprone (ApoE−/−) mice provides a reproducible
model of dissection in the suprarenal abdominal aorta, often with a false lumen and …

[HTML][HTML] Excessive DNA damage mediates ECM degradation via the RBBP8/NOTCH1 pathway in sporadic aortic dissection

Z Zhou, Y Liu, S Gao, M Zhou, F Qi, N Ding… - … et Biophysica Acta (BBA …, 2022 - Elsevier
Stanford type A aortic dissection (TA-AD) is a life-threatening disease. Most cases of aortic
dissection (AD) are sporadic rather than inherited. Unlike that of inherited AD, the …

[HTML][HTML] H3. 3B controls aortic dissection progression by regulating vascular smooth muscle cells phenotypic transition and vascular inflammation

X Zhang, Y Che, L Mao, D Li, J Deng, Y Guo, Q Zhao… - Genomics, 2023 - Elsevier
Aortic dissection is a devastating cardiovascular disease with a high lethality. Histone
variants maintain the genomic integrity and play important roles in development and …

The longevity-associated SH2B3 (LNK) genetic variant: selected aging phenotypes in 379,758 subjects

CL Kuo, M Joaquim, GA Kuchel… - The Journals of …, 2020 - academic.oup.com
Human SH2B3 is involved in growth factor and inflammation signaling. A SH2B3 missense
variant (rs3184504) is associated with cardiovascular diseases plus breast, colorectal, and …

[HTML][HTML] The role of longevity-related genetic variant interactions as predictors of survival after 85 years of age

M Šetinc, Ž Celinšćak, L Bočkor, MZ Petranović… - Mechanisms of ageing …, 2024 - Elsevier
Genome-wide association studies and candidate gene studies have identified several
genetic variants that might play a role in achieving longevity. This study investigates …