Rare-disease genetics in the era of next-generation sequencing: discovery to translation

KM Boycott, MR Vanstone, DE Bulman… - Nature Reviews …, 2013 - nature.com
Work over the past 25 years has resulted in the identification of genes responsible for~ 50%
of the estimated 7,000 rare monogenic diseases, and it is predicted that most of the …

[HTML][HTML] The diagnostic approach to monogenic very early onset inflammatory bowel disease

HH Uhlig, T Schwerd, S Koletzko, N Shah… - Gastroenterology, 2014 - Elsevier
Patients with a diverse spectrum of rare genetic disorders can present with inflammatory
bowel disease (monogenic IBD). Patients with these disorders often develop symptoms …

[HTML][HTML] Human gastrointestinal epithelia of the esophagus, stomach, and duodenum resolved at single-cell resolution

GA Busslinger, BLA Weusten, A Bogte, H Begthel… - Cell Reports, 2021 - cell.com
The upper gastrointestinal tract, consisting of the esophagus, stomach, and duodenum,
controls food transport, digestion, nutrient uptake, and hormone production. By single-cell …

Molecular physiology of membrane guanylyl cyclase receptors

M Kuhn - Physiological reviews, 2016 - journals.physiology.org
Abstract cGMP controls many cellular functions ranging from growth, viability, and
differentiation to contractility, secretion, and ion transport. The mammalian genome encodes …

Short-chain fatty acids: linking diet, the microbiome and immunity

ER Mann, YK Lam, HH Uhlig - Nature Reviews Immunology, 2024 - nature.com
The short-chain fatty acids (SCFAs) butyrate, propionate and acetate are microbial
metabolites and their availability in the gut and other organs is determined by environmental …

Very early onset inflammatory bowel disease: a clinical approach with a focus on the role of genetics and underlying immune deficiencies

J Ouahed, E Spencer, D Kotlarz… - Inflammatory bowel …, 2020 - academic.oup.com
Very early onset inflammatory bowel disease (VEO-IBD) is defined as IBD presenting before
6 years of age. When compared with IBD diagnosed in older children, VEO-IBD has some …

Clinical genomics for the diagnosis of monogenic forms of inflammatory bowel disease: a position paper from the Paediatric IBD Porto Group of European Society of …

HH Uhlig, F Charbit-Henrion, D Kotlarz… - Journal of pediatric …, 2021 - journals.lww.com
Background: It is important to identify patients with monogenic IBD as management may
differ from classical IBD. In this position statement we formulate recommendations for the …

Monogenic diseases associated with intestinal inflammation: implications for the understanding of inflammatory bowel disease

HH Uhlig - Gut, 2013 - gut.bmj.com
Inflammatory bowel disease (IBD), encompassing Crohn's disease and ulcerative colitis, has
multifactorial aetiology with complex interactions between genetic and environmental …

Peripheral mechanisms in irritable bowel syndrome

M Camilleri - New England Journal of Medicine, 2012 - Mass Medical Soc
Various peripheral mechanisms have been implicated in the pathogenesis of irritable bowel
syndrome, including intraluminal intestinal irritants, alteration in the bowel microbiome …

Lessons learned from additional research analyses of unsolved clinical exome cases

MK Eldomery, Z Coban-Akdemir, T Harel… - Genome medicine, 2017 - Springer
Background Given the rarity of most single-gene Mendelian disorders, concerted efforts of
data exchange between clinical and scientific communities are critical to optimize molecular …