Results 41 to 50 of about 256,046 (232)

Two deletion mutations in the hydroxymethylbilane synthase gene in two unrelated Japanese patients with acute intermittent porphyria [PDF]

Journal of Human Genetics, 2000
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease caused by a decreased activity of hydroxymethylbilane synthase (HMBS). Regarding the abnormalities of the HMBS gene, many different mutations have been reported worldwide; however, few families from Japan have been studied.
Noriaki Maeda, Yutaka Horie, Kaori Adachi, Eiji Nanba, H Kawasaki, Makoto Daimon, Yoshiro Kudo, Masao Kondo   +7 more
openalex   +3 more sources

Adolescents may accurately self-collect pharyngeal and rectal clinical specimens for the detection of Chlamydia trachomatis and Neisseria gonorrhoeae infection.

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, Cameron Goldbeck, Claire C Bristow, Chrysovalantis Stafylis, Paul C Adamson, Dianna Polanco, Manuel A Ocasio, Jasmine Fournier, Adriana Romero-Espinoza, Risa Flynn, Robert Bolan, M Isabel Fernandez, Dallas Swendeman, W Scott Comulada, Sung-Jae Lee, Mary Jane Rotheram-Borus, Jeffrey D Klausner, Adolescent Medicine Trials Network (ATN) CARES Team   +17 more
doaj   +1 more source

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 Rep
ABSTRACT 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, Smith J, Leong Y, Cronin V, Winship I, Ross G, Fazio T.   +6 more
europepmc   +2 more sources

A novel mutation c.457C > T p.Q153 in the HMBS gene in a Mexican woman with acute intermittent porphyria

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, Jose Gabriel Solis, Luis Fernando Zavala‐Jonguitud, Martín Roberto Basile‐Alvarez, Andrea Malagon‐Liceaga   +4 more
doaj   +1 more source

Acute Intermittent Porphyria With Epilepsy as the Initial Symptom and Posterior Reversible Encephalopathy Syndrome: A Case Report. [PDF]

Case Rep Neurol Med
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disorder, manifesting in a series of neuropsychiatric symptoms and abdominal pain. Posterior reversible encephalopathy syndrome (PRES) is also an uncommon clinical syndrome characterized by localized cerebral edema in the posterior part of the brain, accompanied by abnormal signal ...
Li W, Lian ZY, Mi XJ, Tang J.
europepmc   +2 more sources

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

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, Shuang Li, Jia-Jia Lei, Ru Li, Bai-Xue Dong, Jing Yang   +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

Modification of hydroxymethylbilane synthase (porphobilinogen deaminase) by pyridoxal 5′-phosphate. Demonstration of an essential lysine residue [PDF]

Biochemical Journal, 1984
When hydroxymethylbilane synthase (porphobilinogen deaminase) from Euglena gracilis is incubated with pyridoxal 5′-phosphate at pH 7.0 and 0 degree C, it rapidly loses part of its activity. The proportion of activity that remains decreases as the concentration of the modifier increases up to approx.
Graham Hart, Finian J. Leeper, Alan R. Battersby   +2 more
openalex   +4 more sources

ADAR1 mRNA quantification for predicting HSIL in persons with HIV and abnormal anal cytology. [PDF]

Int J Cancer
What'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, Mascarell P, Fernández-González M, García JA, de la Tabla AG, Ledesma C, De la Rica A, Galiana A, López L, Ocete MD, Salvador C, Gimeno C, García-Abellán J, Padilla S, Gutiérrez F, Masiá M.   +15 more
europepmc   +2 more sources

Purification, characterization, crystallisation and X‐ray analysis of selenomethionine‐labelled hydroxymethylbilane synthase from Escherichia coli [PDF]

European Journal of Biochemistry, 1993
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 ...
Alfons Hädener, P. K. Matzinger, V.N. Malashkevich, Gordon V. Louie, Stephen P. Wood, Phillip Oliver, Peter R. Alefounder, Andrew R. Pitt, Chris Abell, Alan R. Battersby   +9 more
openalex   +5 more sources