Aims The aim of the study is to integrate targeted transcriptomic analyses of previously identified biomarker proteins (proteomic findings) to better understand vascular complications (Cx) in Type 2 diabetes (T2D). Methods Total RNA was extracted from baseline citrate plasma samples of 543 individuals with T2D from the Fenofibrate Intervention and ...
Habib Francis +17 more
wiley +1 more source
Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations. [PDF]
Clavero S +5 more
europepmc +2 more sources
Acute Intermittent Porphyria: Flaccid Quadriplegia and Encephalopathy due to Posterior Reversible Encephalopathy Syndrome (PRES) [PDF]
A deficiency of the enzyme HMB Hydroxymethylbilane synthase function, also known as porphobilinogen deaminase, leads to the emergence of acute intermittent porphyria (AIP). AIP is an uncommon form of hepatic porphyria inherited in an autosomal dominant
Saba Zaidi +2 more
doaj +1 more source
Screening of Reference Genes for RT-qPCR in Chicken Adipose Tissue and Adipocytes
Reverse transcription quantitative real-time PCR is the most commonly used method to detect gene expression levels. In experiments, it is often necessary to correct and standardize the expression level of target genes with reference genes.
Wei Na +24 more
doaj +1 more source
Exploring Desmin as a Potential Modifier in Duchenne Muscular Dystrophy–Associated Cardiomyopathy
ABSTRACT Aim Duchenne muscular dystrophy (DMD), a rare X‐linked genetic disorder, is affecting skeletal and cardiac muscles due to the loss of the dystrophin protein. Modifier proteins, whose expression is altered in DMD patients, may influence disease progression.
Brice‐Emmanuel Guennec +12 more
wiley +1 more source
Acute intermittent porphyria: a disease with low penetrance and high heterogeneity
Acute intermittent porphyria (AIP) is caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS), a key enzyme in the heme biosynthesis pathway.
Jia-Jia Lei +4 more
doaj +1 more source
Validation of Suitable Reference Genes for Gene Expression Studies on Yak Testis Development
Testis has an important function in male reproduction. Its development is regulated by a large number of genes. The real-time reserve transcriptase-quantitative polymerase chain reaction (RT-qPCR) is a useful tool to evaluate the gene expression levels ...
Xuelan Zhou +9 more
doaj +1 more source
Purification, characterization, crystallisation and X‐ray analysis of selenomethionine‐labelled hydroxymethylbilane synthase from Escherichia coli [PDF]
Hydroxymethylbilane synthase (HMBS) catalyses the conversion of porphobilinogen into hydroxymethylbilane, a linear tetrapyrrolic intermediate in the biosynthesis of haems, chlorophylls, vitamin B12 and related macrocyles. In the course of an investigation of the crystal structure of this enzyme, we intended to follow a new strategy to obtain the X‐ray ...
Hadener, Alfons +9 more
openaire +5 more sources
Background: Papillomatosis is a known histopathologic pattern usually seen in human papillomavirus (HPV) infection and verruca vulgaris is the typical example.
Kamyab Hesari Kambiz +6 more
doaj +1 more source
ABSTRACT Aim Chronic obstructive pulmonary disease (COPD) is frequently associated with skeletal muscle dysfunction, having a considerable impact on exercise tolerance and patient prognosis. Mitochondria play a role in skeletal muscle weakness and exercise intolerance in COPD, but the majority of studies on mitochondrial function are biased by the fact
Aldjia Abdellaoui +10 more
wiley +1 more source

