Results 11 to 20 of about 2,525,333 (167)

Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations [PDF]

Human Mutation, 2000
Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the third enzyme in the heme biosynthetic pathway. So far, more than 160 different mutations responsible for AIP have been identified in this gene.
Maria Domenica Cappellini, Elena Di Pierro, S Fargion   +2 more
exaly   +7 more sources

Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient [PDF]

Frontiers in Genetics, 2023
Background: Acute intermittent porphyria (AIP) is a rare metabolic disorder that results from mutations in the gene encoding hydroxymethylbilane synthase (HMBS), an enzyme involved in heme biosynthesis.
Xiaoqing Wang, Huifen Zhang, Huanhuan Huang, Wenli Wang, Yuping Wen, Zhuojin Dai, Shuling Huang, Jingyi Zhou, Yuqing Zhou   +8 more
doaj   +2 more sources

Real-time PCR of the mammalian hydroxymethylbilane synthase (HMBS) gene for analysis of flea (Ctenocephalides felis) feeding patterns on dogs [PDF]

Parasites & Vectors, 2012
Background Precise data on quantitative kinetics of blood feeding of fleas, particularly immediately after contact with the host, are essential for understanding dynamics of flea-borne disease transmission and for evaluating flea control strategies ...
Wang Chengming, Mount Jane, Butler Jamie, Gao Dongya, Jung Euisun, Blagburn Byron L, Kaltenboeck Bernhard   +6 more
doaj   +5 more sources

HMBS is the most suitable reference gene for RT‑qPCR in human HCC tissues and blood samples

Oncology Letters, 2021
Reverse transcription-quantitative (RT-q) PCR is the most feasible and useful technique for identifying and evaluating cancer biomarkers; however, the method requires suitable reference genes for gene expression analysis. The aim of the present study was to identify the most suitable reference gene for the normalization of relative gene expression in ...
Ahn, Hye Ri, Baek, Geum Ok, Yoon, Moon Gyeong, Son, Ju A, You, Donglim, Yoon, Jung Hwan, Cho, Hyo Jung, Kim, Soon Sun, Cheong, Jae Yeon, Eun, Jung Woo   +9 more
openaire   +4 more sources

Adenosine metabolism as an endogenous protective mechanism in response to upstream ischemic injury [PDF]

Frontiers in Molecular Biosciences
BackgroundFollowing ischemic stroke (IS), endogenous protective mechanisms are activated to mitigate brain injury. Adenosine (ADO), a key endogenous immunomodulator, is implicated in this response, yet the precise regulatory pathways linking upstream ...
Liguo Zhang, Hengzhu Zhang, Hengzhu Zhang, Shaoyan Zhou, Shuangxi Feng, Sijia Luo, Dai Wei   +6 more
doaj   +2 more sources

Pseudoexon Activation in the HMBS Gene as a Cause of the Nonerythroid Form of Acute Intermittent Porphyria [PDF]

Clinical Chemistry, 2013
To the Editor: Acute intermittent porphyria (AIP)1 (MIM 176000) is a low-penetrance, autosomal dominant disorder caused by decreased activity of the third enzyme in the pathway of heme biosynthesis, hydroxymethylbilane synthase (HMBS). Partial deficiency of HMBS can lead to episodic life-threatening neurovisceral attacks of acute porphyria, which are ...
Jonathan M Rhodes, Michael Badminton, Vivion Crowley   +2 more
exaly   +3 more sources

Reference gene selection for the shell gland of laying hens in response to time-points of eggshell formation and nicarbazin. [PDF]

PLoS ONE, 2017
Ten reference genes were investigated for normalization of gene expression data in the shell gland of laying hens. Analyses performed with geNorm revealed that hypoxanthine phosphoribosyltransferase 1 (HPRT1) and hydroxymethylbilane synthase (HMBS) were ...
Sami Samiullah, Juliet Roberts, Shu-Biao Wu   +2 more
doaj   +2 more sources

A novel <i>HMBS</i> gene mutation in acute intermittent porphyria: a case report of abdominal pain, seizures, and reversible neuroimaging findings. [PDF]

Front Genet
BackgroundAcute intermittent porphyria (AIP) is a rare metabolic disorder resulting from defects in the heme biosynthesis pathway, often presenting with non-specific symptoms such as abdominal pain, seizures, and neuropsychiatric disturbances. Diagnosis is challenging due to the overlap of symptoms with other conditions, and early recognition is ...
Dong W, Zeng B, Wang X, Zhang R, Huang P, Fan B, Yuan M, Li Z.   +7 more
europepmc   +4 more sources

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   +2 more sources

Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases [PDF]

Molecular Genetics and Metabolism Reports
Introduction: A male infant presented at three months of age with generalized ataxia, hypotonia, aspiration of liquids and recurrent generalized seizures. He was treated with levetiracetam and phenobarbital.
Manuela Araque, Christopher D. Ma, Amanda Jordan, Denise Faust, Lisa McGuire, Herbert L. Bonkovsky   +5 more
doaj   +2 more sources