Results 51 to 60 of about 2,525,333 (167)

Association of the CCR5 gene with juvenile idiopathic arthritis [PDF]

, 2010
The CC chemokine receptor 5 (CCR5) has been shown to be important in the recruitment of T-helper cells to the synovium, where they accumulate, drive the inflammatory process and the consequent synovitis and joint destruction.
Martin, P., BSPAR Study Group, Barton, A., UKRAG Consortium, Worthington, J., Gardner-Medwin, J. [CAPS and BSPAR Study Groups], Thomson, W., W Thomson, Flynn, E., A Hinks, E Flynn, J Packham, Packham, J., Hinks, A., S Eyre, J Worthington, Eyre, S.; id_orcid, Eyre, S., Barton, A.; id_orcid, P Martin, Childhood Arthritis Prospective Study (CAPS), Martin, P.; id_orcid, A Barton   +22 more
core   +1 more source

Transcriptomic study in explanted liver from a patient with acute intermittent porphyria

JIMD Reports, 2023
Acute intermittent porphyria (AIP) is a rare disease caused by a deficiency of hydroxymethylbilane synthase (HMBS), the third enzyme of the heme‐synthesis pathway. Decreased enzymatic activity in the liver induces an overproduction of heme‐precursors and
Jordi To‐Figueras, Esther Titos, Paula Aguilera, Alba Díaz, Javier Muñoz‐Luque, Irene Madrigal, Celia Badenas, Mercè Torra, Constantino Fondevila, Jordi Colmenero   +9 more
doaj   +1 more source

Table_1_Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.DOCX

, 2018
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP.
Dongjun Lin (779516), Santasree Banerjee (4815588), Yongjiang Zheng (5124092), Jiehua Xu (573897), Shengran Liang (5124089)   +4 more
core   +1 more source

Identification of stable internal control genes for accurate normalization of real-time quantitative PCR data in testicular tissue from two breeds of cattle

Asian Pacific Journal of Reproduction, 2020
Objective: To assess the stability of 10 candidate internal control genes (ICGs), namely GAPDH, ACTB, RPL23, RPS15A, ATPSF1, GLUT5, HMBS, ATP2B4, PPIA, and BRP to normalize the transcriptional data from testes samples of Zebu and crossbred bulls. Methods:
Pradeep Nag, Ankur Sharma, Elango Kamaraj, Arumugam Kumaresan, Tirtha Kumar Datta, Ayyasamy Manimaran, Nilendu Paul, Sakthivel Jeyakumar, Kerekoppa P Ramesha   +8 more
doaj   +1 more source

Table_2_Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia.DOCX

, 2018
Acute intermittent porphyria (AIP) is a rare hereditary metabolic disease with an autosomal dominant mode of inheritance. Germline mutations of HMBS gene causes AIP.
Dongjun Lin (779516), Santasree Banerjee (4815588), Yongjiang Zheng (5124092), Jiehua Xu (573897), Shengran Liang (5124089)   +4 more
core   +1 more source

Selection of reference genes in different myocardial regions of an in vivo ischemia/reperfusion rat model for normalization of antioxidant gene expression

BMC Research Notes, 2012
Background Changes in cardiac gene expression due to myocardial injury are usually assessed in whole heart tissue. However, as the heart is a heterogeneous system, spatial and temporal heterogeneity is expected in gene expression.
Vesentini Nicoletta, Barsanti Cristina, Martino Alessandro, Kusmic Claudia, Ripoli Andrea, Rossi AnnaMaria, L'Abbate Antonio   +6 more
doaj   +1 more source

Self-efficacy and self-management strategies in acute intermittent porphyria

BMC Health Services Research, 2019
Background Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene.
Marte H. Hammersland, Aasne K. Aarsand, Sverre Sandberg, Janice Andersen   +3 more
doaj   +1 more source

Mortality in Pedigrees with Acute Intermittent Porphyria

Life, 2022
High mortality rates have been reported in historical cohorts of acute intermittent porphyria (AIP) patients. The mortality associated with (hydroxymethylbilane synthase) HMBS variant heterozygosity is unknown. This study estimates all-cause mortality in
Rochus Neeleman, Kyra Musters, Margreet Wagenmakers, Sophie Mijnhout, Edith Friesema, Eric Sijbrands, Janneke Langendonk   +6 more
doaj   +1 more source

Identification and validation of stable reference genes for quantitative real time PCR in different minipig tissues at developmental stages

BMC Genomics, 2022
Background Quantitative real time PCR (qPCR) is a powerful tool to evaluate mRNA expression level. However, reliable qPCR results require normalization with validated reference gene(s).
Jeongah Song, Jeonghee Cho, Jeongsik Park, Jeong Ho Hwang   +3 more
doaj   +1 more source

Selection of housekeeping genes for quantitative gene expression analysis in yellow-feathered broilers

Italian Journal of Animal Science, 2018
The aim of this study was designed to select housekeeping genes for quantitative gene expression analysis in yellow-feathered broilers. Twelve 3-week-old chickens were randomly selected from 60 yellow-feathered broilers.
Jie Zhang, Yu-Yun Gao, Yi-Qiang Huang, Qian Fan, Xin-Tao Lu, Chang-Kang Wang   +5 more
doaj   +1 more source