Results 31 to 40 of about 295,934 (166)

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP, 2022
Acute intermittent porphyria (AIP) is an autosomal, dominant, hereditary metabolic disease caused by an inherited deficiency of hydroxymethylbilane synthase (HMBS), a crucial enzyme in the heme biosynthetic pathway.
A. Yang, Li Ma, Hong Zhang, J. Zhang
semanticscholar   +1 more source

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

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

Human hydroxymethylbilane synthase: Molecular dynamics of the pyrrole chain elongation identifies step-specific residues that cause AIP. [PDF]

Proc Natl Acad Sci U S A, 2018
Bung N, Roy A, Chen B, Das D, Pradhan M, Yasuda M, New MI, Desnick RJ, Bulusu G.   +8 more
europepmc   +2 more sources

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

A novel 55-basepair deletion of hydroxymethylbilane synthase gene found in a Chinese patient with acute intermittent porphyria and her family: A case report. [PDF]

Medicine (Baltimore), 2018
Rationale: Acute intermittent porphyria (AIP) is caused by hydroxymethylbilane synthase (HMBS) gene mutation. Patient concerns: A Chinese female patient with very typical AIP symptoms of severe abdominal pain, seizures, hypertension, and tachycardia ...
Ren Y, Xu LX, Liu YF, Xiang CY, Gao F, Wang Y, Bai T, Yin JH, Zhao YL, Yang J.   +9 more
europepmc   +2 more sources

Identification of stable reference genes for quantitative gene expression analysis in the duodenum of meat-type ducks

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, Fei Shui, Guiru Qiu, Shenqiang Pan, Xin Wang, Xin Wang, Fumin Jia, Fumin Jia, Tingting Jiang, Yongsheng Li, Zhaoyu Geng, Zhaoyu Geng, Sihua Jin, Sihua Jin   +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

Identification and molecular analysis of 17 novel hydroxymethylbilane synthase mutations in 69 Chinese patients with acute intermittent porphyria

, 2021
BACKGROUND: Acute intermittent porphyria (AIP) is an autosomal dominant hereditary disease caused by mutations to the hydroxymethylbilane synthase (HMBS) gene in the heme biosynthesis pathway. AIP is a rare disease that is thought to display incomplete
H. Xiang, Lichen Hao, Kang Lin, Masahiro Yan, Teng Qing, Motofumi Ling, W. hong, Wang-Xin Yang, Bi Jie, Z. yun   +9 more
semanticscholar   +1 more source

A novel 3-base deletion (IVS3+2_4delTGG) of the hydroxymethylbilane synthase gene in a Brazilian patient with acute intermittent porphyria

Genetics and Molecular Biology, 2007
Acute intermittent porphyria (AIP, OMIM 176000) is an autosomal dominant metabolic disease caused by mutations in the gene encoding hydroxymethylbilane synthase (HMBS; EC 4.3.1.8; formely named porphobilinogen deaminase, PBGD), mapped to chromosome 11q23.
Georgina Severo Ribeiro, Paulo Eurípedes Marchiori, Mário Hiroyuki Hirata, Ivanise Rebecchi, Adriana Natsue Ozaki, Maria Aparecida Nagai, Mariana Lopes dos Santos, Raimundo Antonio Gomes Oliveira, Orlando Cesar de Oliveira Barretto   +8 more
doaj   +1 more source