Results 21 to 30 of about 2,195 (151)
Liver Transplantation and Other Hepatically Directed Therapies Do Not Change the Biochemical Phenotype nor Halt Progression of Leukodystrophy due to Biallelic <i>HMBS</i> Variants: A Case Report. [PDF]
JIMD RepABSTRACT Leukodystrophy due to biallelic HMBS variants is a rare condition distinct from acute intermittent porphyria (AIP). It is characterised by progressive leukoencephalopathy rather than acute attacks of neurovisceral symptoms. We report the ongoing clinical progression of a patient with leukodystrophy due to homozygous variants in HMBS [c.251C>A,
Clark J +6 more
europepmc +2 more sources
Molecular and Cellular Probes, 1999 Acute intermittent porphyria (AIP) is a low-penetrant, autosomal dominant disorder caused by decreased activity of hydroxymethylbilane synthase (HMBS; MIM 176 000), the third enzyme in the heme biosynthetic pathway. We report the first molecular analysis of HMBS gene mutations in classical AIP patients of German origin.
Hervé Puy, M Doss, Y Nordmann
exaly +3 more sources
ADAR1 mRNA quantification for predicting HSIL in persons with HIV and abnormal anal cytology. [PDF]
Int J CancerWhat's new? This study introduces ADAR1 mRNA quantification as a promising biomarker for improving high‐grade squamous intraepithelial lesion (HSIL) prediction in HIV‐positive individuals with abnormal anal cytology. With 92% specificity, it reduces unnecessary high‐resolution anoscopies (HRA) by 77%, offering a more efficient and targeted screening ...
Bello-Perez M +15 more
europepmc +2 more sources
Molecular and Cellular Probes, 1998 The hydroxymethylbilane synthase (HMBS) mRNAs from 44 control individuals and 30 patients suffering from acute intermittent porphyria (AIP), were screened for length differences by reverse transcriptase polymerase chain reaction (RT-PCR) and any abnormalities were characterized by direct sequencing.
W G Lanyon, Michael R Moore, J M Connor
exaly +6 more sources
PLoS ONE, 2021 BackgroundThe COVID-19 pandemic illuminated the benefits of telemedicine. Self-collected specimens are a promising alternative to clinician-collected specimens when in-person testing is not feasible.
Gabriella Vavala +17 more
doaj +1 more source
Clinical Case Reports, 2023 Key Clinical Message The detection of a novel HMBS gene mutation (c.457C > T) in a Mexican woman with acute intermittent porphyria underscores the importance of expanding genetic analyses in diverse populations to improve diagnosis, management, and ...
Jose Malagon‐Rangel +4 more
doaj +1 more source
Frontiers in Genetics, 2023 Background: Early detection and diagnosis are important crucial to prevent life-threatening acute attacks in patients with acute intermittent porphyria (AIP).
Yi Ren +5 more
doaj +1 more source
Enigmatic Evolutionary History of Porphobilinogen Deaminase in Eukaryotic Phototrophs
Biology, 2021 In most eukaryotic phototrophs, the entire heme synthesis is localized to the plastid, and enzymes of cyanobacterial origin dominate the pathway.
Miroslav Oborník
doaj +1 more source
Frontiers in Veterinary Science, 2023 Quantitative polymerase chain reaction (qPCR) is an important method to detect gene expression at the molecular level. The selection of appropriate housekeeping genes is the key to accurately calculating the expression level of target genes and ...
Fei Shui +13 more
doaj +1 more source
A simple rapid purification scheme for hydroxymethylbilane synthase from human erythrocytes [PDF]
Biochemical Journal, 1988 Hydroxymethylbilane synthase from human erythrocytes was purified 47,000-fold to greater than 95% homogeneity and 7.5% yield by a simple and rapid procedure using heat treatment (80 degrees C, in the presence of proteinase inhibitors, to convert one of two chromatographically separable forms into the other), DEAE-cellulose and Cibacron Blue F3G-A ...
E, Smythe, D C, Williams
openaire +2 more sources