Cells, 2021 This study aims to present the serum metabolite profiles of patients with acute intermittent porphyria (AIP) and identify specific metabolites that could potentially discriminate between AIP, asymptomatic HMBS mutation carriers, and healthy individuals ...
Chia-Ni Lin +4 more
doaj +2 more sources
Reference Gene Screening for Analyzing Gene Expression Across Goat Tissue [PDF]
Asian-Australasian Journal of Animal Sciences, 2013 Real-time quantitative PCR (qRT-PCR) is one of the important methods for investigating the changes in mRNA expression levels in cells and tissues.
Yu Zhang +6 more
doaj +3 more sources
Comparative Evaluation of Computational Methods for Validating Housekeeping Gene RT-qPCR Data in 3T3-L1 Cells [PDF]
BiomedicinesBackground: Postbiotics with anti-adipogenic properties can significantly modify adipocyte metabolism by influencing key cellular pathways involved in lipid accumulation.
Zhenya Ivanova +4 more
doaj +2 more sources
Diagnostic Strategies for Autosomal Dominant Acute Porphyrias: Retrospective Analysis of 467 Unrelated Patients Referred for Mutational Analysis of the HMBS, CPOX, or PPOX Gene [PDF]
Clinical Chemistry, 2009 Abstract Background: Clinically indistinguishable attacks of acute porphyria occur in acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP). There are few evidence-based diagnostic strategies for these disorders.
Sharon D, Whatley +5 more
openaire +3 more sources
Acute intermittent porphyria: A case report with an unlisted HMBS gene variant (c.345–2A>C)
Brain DisordersWe report a case of acute intermittent porphyria in a 19-year-old patient, linked to an unlisted variant of the gene encoding hydroxymethylbilane synthase c.345–2A>C.
Julien Lerusse +2 more
doaj +3 more sources
Severe peripheral neuropathy secondary to acute intermittent porphyria caused by a rare HMBS gene mutation: a case report. [PDF]
BMC NeurolLi Y, Wang D, Hong D.
europepmc +2 more sources
Peripheral Blood T Cell Gene Expression Responses to Exercise and HMB in Sarcopenia [PDF]
Nutrients, 2021 Background: Sarcopenia is a major health problem in older adults. Exercise and nutrient supplementation have been shown to be effective interventions but there are limited studies to investigate their effects on the management of sarcopenia and its possible underlying mechanisms.
Suk-Ling Ma +7 more
openaire +3 more sources
Molecular analysis of eight splicing variants in the hydroxymethylbilane synthase gene
Frontiers in Genetics, 2023 Background: Molecular genetic testing is the most sensitive and specific method to confirm acute intermittent porphyria (AIP), a rare autosomal dominant disease, caused by Hydroxymethylbilane synthase (HMBS) gene mutation.
Yi Ren +9 more
doaj +1 more source
Novel Mutation and Polymorphisms of the HMBS Gene Detected by Denaturing HPLC [PDF]
Clinical Chemistry, 2001 Acute intermittent porphyria (AIP) is an autosomal dominant, inborn error of the metabolism of heme biosynthesis caused by partial deficiency of hydroxymethylbilane synthase (HMBS). This enzyme catalyzes the condensation of four molecules of porphobilinogen to a tetrapyrrole, hydroxymethylbilane.
Lam, CW +8 more
openaire +3 more sources
A new set of reference housekeeping genes for the normalization RT-qPCR data from the intestine of piglets during weaning. [PDF]
PLoS ONE, 2018 The intestinal mucosal development of piglets (Sus scrofa) during the weaning stage is important to their disease susceptibility and later growth. Quantitative real-time PCR (RT-qPCR) is commonly used to screen for differentially expressed genes and, for
Shujin Wang +4 more
doaj +1 more source