Genetics: Novel causative genes for polycystic liver disease.

Nat Rev Gastroenterol Hepatol

Department of Liver and Gastrointestinal Diseases, Biodonostia Health Research Institute - Donostia University Hospital, Paseo del Dr. Begiristain s/n, E-20014, San Sebastian, Spain; at the National Institute for the Study of Liver and Gastrointestinal Diseases (CIBERehd, Instituto de Salud Carlos III), 28029, Madrid, Spain; and at the IKERBASQUE, Basque Foundation for Science, 48013 Bilbao, Spain.

Published: July 2017

Download full-text PDF

Source
http://dx.doi.org/10.1038/nrgastro.2017.69DOI Listing

Publication Analysis

Top Keywords

genetics novel
4
novel causative
4
causative genes
4
genes polycystic
4
polycystic liver
4
liver disease
4
genetics
1
causative
1
genes
1
polycystic
1

Similar Publications

Melatonin, a molecule with diverse biological functions, is ubiquitously present in living organisms. There is significant interest in understanding melatonin signal transduction pathways in humans, particularly due to its critical role in regulating the sleep-wake cycle. However, a knowledge gap remains in fully elucidating the mechanisms by which melatonin influences circadian regulation.

View Article and Find Full Text PDF

Objectives: This study aims to elucidate the microbial signatures associated with autoimmune diseases, particularly systemic lupus erythematosus (SLE) and inflammatory bowel disease (IBD), compared with colorectal cancer (CRC), to identify unique biomarkers and shared microbial mechanisms that could inform specific treatment protocols.

Methods: We analysed metagenomic datasets from patient cohorts with six autoimmune conditions-SLE, IBD, multiple sclerosis, myasthenia gravis, Graves' disease and ankylosing spondylitis-contrasting these with CRC metagenomes to delineate disease-specific microbial profiles. The study focused on identifying predictive biomarkers from species profiles and functional genes, integrating protein-protein interaction analyses to explore effector-like proteins and their targets in key signalling pathways.

View Article and Find Full Text PDF

RNA N6-methyladenosine (m6A) plays diverse roles in RNA metabolism and its deregulation contributes to tumor initiation and progression. Clear cell renal cell carcinoma (ccRCC) is characterized by near ubiquitous loss of followed by mutations in epigenetic regulators , , and . Mutations in , a histone H3 lysine 36 trimethylase (H3K36me3), are associated with reduced survival, greater metastatic propensity, and metabolic reprogramming.

View Article and Find Full Text PDF

Could metabolic imaging and artificial intelligence provide a novel path to non-invasive aneuploidy assessments? A certain clinical need.

Reprod Fertil Dev

January 2025

Fertility & Research Centre, Discipline of Women health, School of Clinical Medicine and the Royal Hospital for Women, University of New South Wales, Sydney, NSW, Australia.

Pre-implantation genetic testing for aneuploidy (PGT-A) via embryo biopsy helps in embryo selection by assessing embryo ploidy. However, clinical practice needs to consider the invasive nature of embryo biopsy, potential mosaicism, and inaccurate representation of the entire embryo. This creates a significant clinical need for improved diagnostic practices that do not harm embryos or raise treatment costs.

View Article and Find Full Text PDF

The Developmental Origin of Novel Complex Morphological Traits in Lepidoptera.

Annu Rev Entomol

January 2025

Department of Biology and Molecular Sciences Research Center, University of Puerto Rico, San Juan, Puerto Rico.

Novel traits in the order Lepidoptera include prolegs in the abdomen of larvae, scales, and eyespot and band color patterns in the wings of adults. We review recent work that investigates the developmental origin and diversification of these four traits from a gene-regulatory network (GRN) perspective. While prolegs and eyespots appear to derive from distinct ancestral GRNs co-opted to novel body regions, scales derive from in situ modifications of a sensory bristle GRN.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!