Results 31 to 40 of about 2,525,333 (167)

Identification of reference genes for expression studies in the liver, and spleen of laying hens housed in cage and cage-free systems

Open Veterinary Journal, 2023
Background: The liver and spleen play a pivotal role in metabolism and immune response. During stress, neuroendocrine response induces changes in gene expression and its assessment demands the validation of the stability of the reference genes to ...
María Paula Herrera-Sanchez, Kelly Johanna Lozano-Villegas, Iang Schroniltgen Rondón-Barragan, Roy Rodríguez-Hernandez   +3 more
doaj   +1 more source

Identification of reliable reference genes for expression studies in the magnum of laying hens housed in cage and cage‐free systems

Veterinary Medicine and Science, 2021
Stress factors during poultry production can evoke changes in gene transcription and protein synthesis in the hen oviduct and could affect the internal and external egg quality.
Roy Rodríguez‐Hernández, Edgar O. Oviedo‐Rondón, Iang S. Rondón‐Barragán   +2 more
doaj   +1 more source

Dual porphyria with mutations in both the UROD and HMBS genes [PDF]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine, 2006
The porphyrias are a group of inborn or acquired disorders of haem synthesis that can result in neurovisceral or dermatological symptoms. Diagnosis is usually made using a combination of clinical presentation and biochemical parameters. This case report describes a 25-year-old woman clinically presenting with a rash and then found to have elevated ...
James R, Harraway, Christopher M, Florkowski, Christiaan, Sies, Peter M, George   +3 more
openaire   +2 more sources

Characterisation of a common hotspot variant in acute intermittent porphyria sheds light on the mechanism of hydroxymethylbilane synthase function

FEBS Open Bio, 2022
Hydroxymethylbilane synthase (HMBS) is the third enzyme involved in haem biosynthesis, in which it catalyses the formation of tetrapyrrole 1‐hydroxymethylbilane (HMB).
Marthe S. Christie, Mikko Laitaoja, Aasne K. Aarsand, Juha P. Kallio, Helene J. Bustad   +4 more
doaj   +1 more source

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

Life, 2023
Acute porphyrias are a group of monogenetic inborn errors of heme biosynthesis, characterized by acute and potentially life-threatening neurovisceral attacks upon exposure to certain triggering factors.
Adrian Belosevic, Anna-Elisabeth Minder, Morgan Gueuning, Franziska van Breemen, Gian Andri Thun, Maja P. Mattle-Greminger, Stefan Meyer, Alessandra Baumer, Elisabeth I. Minder, Xiaoye Schneider-Yin, Jasmin Barman-Aksözen   +10 more
doaj   +1 more source

Table1_Functional and structural analysis of a novel splice site HMBS variant in a Chinese AIP patient.XLSX

, 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 (514179), Huanhuan Huang (7401263), Wenli Wang (1701169), Jingyi Zhou (3681790), Yuping Wen (1731517), Huifen Zhang (8203992), Yuqing Zhou (700970), Shuling Huang (16682859), Zhuojin Dai (17670111)   +8 more
core   +1 more source

Selection of suitable endogenous reference genes for qPCR in kidney and hypothalamus of rats under testosterone influence. [PDF]

PLoS ONE, 2017
Real-time quantitative PCR (qPCR) is the most reliable and accurate technique for analyses of gene expression. Endogenous reference genes are being used to normalize qPCR data even though their expression may vary under different conditions and in ...
Khadijeh Gholami, Su Yi Loh, Naguib Salleh, Sau Kuen Lam, See Ziau Hoe   +4 more
doaj   +1 more source

Severe hydroxymethylbilane synthase deficiency causes depression-like behavior and mitochondrial dysfunction in a mouse model of homozygous dominant acute intermittent porphyria

Acta Neuropathologica Communications, 2020
Acute intermittent porphyria (AIP) is an autosomal dominant inborn error of heme biosynthesis due to a pathogenic mutation in the Hmbs gene, resulting in half-normal activity of hydroxymethylbilane synthase.
Stefanie Berger, Miranda Stattmann, Ana Cicvaric, Francisco J. Monje, Pierluca Coiro, Matej Hotka, Gerda Ricken, Johannes Hainfellner, Susanne Greber-Platzer, Makiko Yasuda, Robert J. Desnick, Daniela D. Pollak   +11 more
doaj   +1 more source

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

Internal control genes for quantitative RT-PCR expression analysis in mouse osteoblasts, osteoclasts and macrophages

BMC Research Notes, 2011
Background Real-time quantitative RT-PCR (qPCR) is a powerful technique capable of accurately quantitating mRNA expression levels over a large dynamic range. This makes qPCR the most widely used method for studying quantitative gene expression.
Stephens Sebastien R, Stephens Alexandre S, Morrison Nigel A   +2 more
doaj   +1 more source