Human genetic variation and the gut microbiome in disease

AB Hall, AC Tolonen, RJ Xavier - Nature Reviews Genetics, 2017 - nature.com
Taxonomic and functional changes to the composition of the gut microbiome have been
implicated in multiple human diseases. Recent microbiome genome-wide association …

The relationship between choline bioavailability from diet, intestinal microbiota composition, and its modulation of human diseases

N Arias, S Arboleya, J Allison, A Kaliszewska… - Nutrients, 2020 - mdpi.com
Choline is a water-soluble nutrient essential for human life. Gut microbial metabolism of
choline results in the production of trimethylamine (TMA), which, upon absorption by the host …

Alternative splicing isoforms in health and disease

HK Kim, MHC Pham, KS Ko, BD Rhee… - Pflügers Archiv-European …, 2018 - Springer
Alternative splicing (AS) of protein-coding messenger RNAs is an essential regulatory
mechanism in eukaryotic gene expression that controls the proper function of proteins. It is …

An integrated multi-omics approach identifies the landscape of interferon-α-mediated responses of human pancreatic beta cells

ML Colli, M Ramos-Rodríguez, ES Nakayasu… - Nature …, 2020 - nature.com
Abstract Interferon-α (IFNα), a type I interferon, is expressed in the islets of type 1 diabetic
individuals, and its expression and signaling are regulated by T1D genetic risk variants and …

YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress

E De Franco, M Lytrivi, H Ibrahim… - The Journal of …, 2020 - Am Soc Clin Investig
Neonatal diabetes is caused by single gene mutations reducing pancreatic β cell number or
impairing β cell function. Understanding the genetic basis of rare diabetes subtypes …

Pancreatic microexons regulate islet function and glucose homeostasis

J Juan-Mateu, S Bajew, M Miret-Cuesta, LP Íñiguez… - Nature …, 2023 - nature.com
Pancreatic islets control glucose homeostasis by the balanced secretion of insulin and other
hormones, and their abnormal function causes diabetes or hypoglycaemia. Here we …

Long noncoding RNAs and RNA‐binding proteins in oxidative stress, cellular senescence, and age‐related diseases

C Kim, D Kang, EK Lee, JS Lee - Oxidative Medicine and …, 2017 - Wiley Online Library
Cellular senescence is a complex biological process that leads to irreversible cell‐cycle
arrest. Various extrinsic and intrinsic insults are associated with the onset of cellular …

Modulation of insulin secretion by RBFOX2-mediated alternative splicing

ND Moss, KL Wells, A Theis, YK Kim… - Nature …, 2023 - nature.com
Insulin secretion is a tightly regulated process that is vital for maintaining blood glucose
homeostasis. Although the molecular components of insulin granule trafficking and secretion …

Posttranscriptional regulation of insulin resistance: implications for metabolic diseases

A Pérez-García, M Torrecilla-Parra… - Biomolecules, 2022 - mdpi.com
Insulin resistance defines an impairment in the biologic response to insulin action in target
tissues, primarily the liver, muscle, adipose tissue, and brain. Insulin resistance affects …

Evidence of epistasis in regions of long-range linkage disequilibrium across five complex diseases in the UK Biobank and eMERGE datasets

P Singhal, Y Veturi, SM Dudek, A Lucas, A Frase… - The American Journal of …, 2023 - cell.com
Leveraging linkage disequilibrium (LD) patterns as representative of population substructure
enables the discovery of additive association signals in genome-wide association studies …