Results 81 to 90 of about 2,873 (186)

Pseudoxanthoma elasticum

Orphanet Journal of Rare Diseases, 2017
Pseudoxanthoma elasticum (PXE) is a genetic metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. The lack of functional ABCC6 protein leads to ectopic mineralization that is most apparent in the elastic tissues of
Dominique P. Germain
doaj   +1 more source

Dietary supplement of sodium butyrate improves the growth performance and intestinal health by targeting Wnt/β‐catenin signaling pathway in rabbits

Animal Research and One Health, Volume 3, Issue 4, Page 389-404, November 2025.
Dietary supplement of sodium butyrate, may relate to regulating intestinal health and thus the growth performance and meat quality of rabbits by regulating the continuous process of promoting the periodic cycle of cecal epithelial cells. Abstract Supplementation of sodium butyrate (SB) has been proved to be beneficial for improving the growth ...
Mengke Ni, Zhitong Wang, Zhichao Li, Mengjuan Chen, Hui He, Hanfang Cai, Zhi Chen, Ming Li, Huifen Xu   +8 more
wiley   +1 more source

Image_1_Extracellular ATP Regulates CD73 and ABCC6 Expression in HepG2 Cells.tif

, 2018
The ATP-binding cassette sub-family C member 6 transporter (ABCC6) is an ATP dependent transporter mainly found in the basolateral plasma membrane of hepatic and kidney cells. Mutations in ABCC6 gene were associated to the Pseudoxanthoma elasticum (PXE),
Maria C. Pace (5627789), Fabio Martinelli (5627783), Rocchina Miglionico (5627795), Angela Ostuni (2642038), Flavia Cuviello (5627786), Maria F. Armentano (5627792), Faustino Bisaccia (5627798)   +6 more
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Prenatal Diagnosis, Ultrasound Findings, and Follow‐Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype–Phenotype

Journal of Clinical Laboratory Analysis, Volume 39, Issue 13, July 2025.
What do the results of this study add? We expanded the clinical phenotype spectrum of fetuses with 16p13.11 deletion and duplication and conducted a preliminary evaluation of prenatal ultrasound findings in conjunction with postnatal clinical phenotypes. The primary manifestations observed in fetuses with 16p13.11 deletion and duplication are likely to
Xiaojin Luo, Liping Wu, Jinshuang Song, Jinmao Xu, Ruchun Huang, Hongyan Niu, Fei Zhou, Yuanyuan Pei, Weiqiang Liu, Fengxiang Wei   +9 more
wiley   +1 more source

Pseudoxanthoma elasticum: cardiac findings in patients and Abcc6-deficient mouse model.

PLoS ONE, 2013
BackgroundPseudoxanthoma elasticum (PXE), caused by mutations in the ABCC6 gene, is a rare multiorgan disease characterized by the mineralization and fragmentation of elastic fibers in connective tissue.
Fabrice Prunier, Gwenola Terrien, Yannick Le Corre, Ailea L Y Apana, Loïc Bière, Gilles Kauffenstein, Alain Furber, Arthur A B Bergen, Theo G M F Gorgels, Olivier Le Saux, Georges Leftheriotis, Ludovic Martin   +11 more
doaj   +1 more source

Phosphate in Physiological and Pathological Mineralization: Important yet Often Unheeded

MedComm, Volume 6, Issue 7, July 2025.
Phosphate serves as a building block for physiological mineralization, and as a signaling molecule that regulates the activity of mineralizing cells. The disturbance in these processes could induce a series of pathological mineralization, with abnormal mineralization of hard tissues and ectopic mineralization of soft tissues being the most ...
Wen Qin, San‐yang Yu, Jia‐lu Gao, Jian‐fei Yan, Qian‐qian Wan, Shuai‐lin Jia, Franklin Tay, Kai Jiao, Lina Niu   +8 more
wiley   +1 more source

Pathogenic variants prevalence patients with diabetic kidney disease in Japan: A descriptive study

Journal of Diabetes Investigation, Volume 16, Issue 7, Page 1263-1273, July 2025.
Previous studies have identified pathogenic variants in 22% of Caucasian patients with diabetic kidney disease (DKD); however, this proportion may vary depending on ethnicity and updates to the database. Whole‐genome sequencing of 79 patients with DKD in Japan revealed that 34.1% had kidney‐related heterozygous pathogenic variants, and 12.7% had ...
Toyohiro Hashiba, Yuka Sugawara, Yosuke Hirakawa, Dai Sato, Reiko Inagi, Masaomi Nangaku   +5 more
wiley   +1 more source

Rescue of ABCC6 trafficking by low temperature expression.

, 2014
Low temperature expression was used to further evaluate ABCC6 trafficking in HEK293 cells. A, western blots showing the expression of the wildtype and Δ6-COOH ABCC6 proteins at 37°C and 27°C.
Patrick H. Thibodeau (565940), Chelsea M. Crum (565939), Peng Xue (219948)   +2 more
core   +1 more source

ABCC6 and pseudoxanthoma elasticum

, 2007
ABCC6 belongs to the adenosine triphosphate-binding cassette (ABC) gene subfamily C. This protein family is involved in a large variety of physiological processes, such as signal transduction, protein secretion, drug and antibiotic resistance, and ...
Hu, X., Bergen, A.A.B., Jong de, P.T.V.M., Gorgels, Th.G.M.F., Plomp. A.S.,   +4 more
core  

Gene expression and Western Blot analysis of ABCC6.

, 2014
(a) Quantification of ABCC6 mRNA expression in human dermal fibroblasts from healthy controls (n = 5; white) and PXE patients (n = 6; black). Effect of siRNA-mediated knockdown on ABCC6 gene expression: fibroblasts transfected with a scramble siRNA ...
Edward D. Karoly (493683), Joachim Kuhn (635688), Mareike Dabisch-Ruthe (635690), Ryan D. Michalek (483950), Cornelius Knabbe (598200), Doris Hendig (635691), Isabel Faust (635689), Patricia Kuzaj (635687)   +7 more
core   +1 more source