Results 41 to 50 of about 2,525,333 (167)

Validation of internal reference genes for relative quantitation studies of gene expression in human laryngeal cancer [PDF]

PeerJ, 2016
Background The aim of this study was to determine the expression stabilities of 12 common internal reference genes for the relative quantitation analysis of target gene expression performed by reverse transcription real-time quantitative polymerase chain
Xiaofeng Wang, Jinting He, Wei Wang, Ming Ren, Sujie Gao, Guanjie Zhao, Jincheng Wang, Qiwei Yang   +7 more
doaj   +2 more sources

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria

Frontiers in Pharmacology, 2019
The rare autosomal dominant disorder acute intermittent porphyria (AIP) is caused by the deficient activity of hydroxymethylbilane synthase (HMBS).
Yibao Fu, Jinmeng Jia, Lishu Yue, Ruiying Yang, Yongli Guo, Yongli Guo, Yongli Guo, Xin Ni, Xin Ni, Xin Ni, Tieliu Shi, Tieliu Shi   +11 more
doaj   +1 more source

Selection of reference genes for gene expression studies related to intramuscular fat deposition in Capra hircus skeletal muscle. [PDF]

PLoS ONE, 2015
The identification of suitable reference genes is critical for obtaining reliable results from gene expression studies using quantitative real-time PCR (qPCR) because the expression of reference genes may vary considerably under different experimental ...
Wuzheng Zhu, Yaqiu Lin, Honghai Liao, Yong Wang   +3 more
doaj   +1 more source

Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis [PDF]

, 2010
Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic ...
S Eyre, J Worthington, X Ke, P Martin, W Thomson, A Hinks, E Flynn, J Packham, A Barton, Martin, P., Barton, A., Gardner-Medwin, J. [CAPS and BSPAR study groups], UKRAG Consortium, Worthington, J., Thomson, W., Flynn, E., Packham, J., Hinks, A., British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group, Eyre, S., Ke, X., Childhood Arthritis Prospective Study (CAPS)   +21 more
core   +1 more source

Expanding the clinical and radiological phenotypes of leukoencephalopathy due to biallelic HMBS mutations

, 2021
Pathogenic heterozygous variants in HMBS encoding the enzyme hydroxymethylbilane synthase (HMBS), also known as porphobilinogen deaminase, cause acute intermittent porphyria (AIP).
Florkowski, Chris, Lockhart, Paul J., van der Knaap, Marjo S., Chris Florkowski, Chloe A. Stutterd, Stutterd, Chloe A., Amor, David J., Marjo S. van der Knaap, John Archer, Raizis, Anthony, Paul J. Lockhart, Wu, Teddy Y., Melanie Bahlo, Vesna Lukic, Fanjul, Miriam, Miriam Fanjul, Richard J. Leventer, Alexa Kidd, Edward Janus, David J. Amor, Gow, Paul, Teddy Y. Wu, Bahlo, Melanie, Janus, Edward, Lukic, Vesna, Paul Gow, Kidd, Alexa, Leventer, Richard J., Archer, John, Anthony Raizis, Delatycki, Martin B., Martin B. Delatycki   +31 more
core   +2 more sources

Validation of putative reference genes for gene expression studies in human hepatocellular carcinoma using real-time quantitative RT-PCR

BMC Cancer, 2008
Background Reference genes, which are often referred to as housekeeping genes are frequently used to normalize mRNA levels between different samples in quantitative reverse transcription polymerase chain reaction (qRT-PCR).
Radtke Arnold, Sotiropoulos Georgios C, Shen Qingli, Cicinnati Vito R, Gerken Guido, Beckebaum Susanne   +5 more
doaj   +1 more source

Update on Viral Gene Therapy Clinical Trials for Retinal Diseases [PDF]

, 2022
In 2001, the first large animal was successfully treated with a gene therapy that restored its vision. Lancelot, the Briard dog that was treated, suffered from a human childhood blindness called Leber's congenital amaurosis type 2.
Cheng, Shun-Yun, Punzo, Claudio
core   +1 more source

Screening of Reference Genes for RT-qPCR in Chicken Adipose Tissue and Adipocytes

Frontiers in Physiology, 2021
Reverse transcription quantitative real-time PCR is the most commonly used method to detect gene expression levels. In experiments, it is often necessary to correct and standardize the expression level of target genes with reference genes.
Wei Na, Wei Na, Wei Na, Wei Na, Yuxiang Wang, Yuxiang Wang, Yuxiang Wang, Pengfei Gong, Pengfei Gong, Pengfei Gong, Xinyang Zhang, Xinyang Zhang, Xinyang Zhang, Ke Zhang, Ke Zhang, Ke Zhang, Hui Zhang, Hui Zhang, Hui Zhang, Ning Wang, Ning Wang, Ning Wang, Hui Li, Hui Li, Hui Li   +24 more
doaj   +1 more source

Identification of Suitable Reference Genes for Real Time Quantitative Polymerase Chain Reaction Assays on Pectoralis major Muscle in Chicken (Gallus gallus ). [PDF]

PLoS ONE, 2015
Thirteen reference genes were investigated to determine their stability to be used as a housekeeping in gene expression studies in skeletal muscle of chickens.
Carlos S Nascimento, Leandro T Barbosa, Claudson Brito, Roberta P M Fernandes, Renata S Mann, Ana Paula G Pinto, Haniel C Oliveira, Mike V Dodson, Simone E F Guimarães, Marcio S Duarte   +9 more
doaj   +1 more source

Acute Intermittent Porphyria: An Overview of Therapy Developments and Future Perspectives Focusing on Stabilisation of HMBS and Proteostasis Regulators [PDF]

, 2021
Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) gene, which encodes the third enzyme in the haem biosynthesis pathway.
Vorland, Marta, Helene J. Bustad, Kallio, Juha Pekka, Juha P. Kallio, Marta Vorland, Fiorentino, Valeria, Schmitt, Caroline, Martinez, Aurora, Aurora Martinez, Valeria Fiorentino, Sverre Sandberg, Bustad, Helene J., Aarsand, Aasne Karine, Caroline Schmitt, Aasne K. Aarsand, Sandberg, Sverre   +15 more
core   +1 more source