Results 21 to 30 of about 3,094 (152)

Nonfamilial Pseudoxanthoma Elasticum: A Case Report With Review of Selected Literature. [PDF]

Clin Case Rep
ABSTRACT A 44‐year‐old woman with classic cutaneous manifestations of nonfamilial PXE presented with multiple 3 to 10 mm yellowish papules coalescing into well‐demarcated, cobblestone‐like plaques. Previous ophthalmologic evaluation revealed retinal angioid streaks, while no cardiovascular involvement was reported.
Peniche-Luna E, Uriarte-Ruiz K, Pérez-Nieto JE, Briseño-Gascón G, Vega-Memije ME, Guzmán-Bucio S.   +5 more
europepmc   +2 more sources

Severe Hypertension and Hematologic Abnormalities in Pseudoxanthoma Elasticum: A Pediatric Case Report. [PDF]

J Clin Hypertens (Greenwich)
ABSTRACT Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by pathogenic variants in ABCC6, leading to progressive calcification of elastic fibers. Although PXE typically presents in adolescence with dermatologic or ocular manifestations, early vascular involvement, including pediatric hypertension, is increasingly recognized.
Flogelova H, Pospisilova D, Bakaj-Zbrozkova L, Sochorcova L, Manakova J, Kriegova E, Koralkova P, Hlusickova Kapralova K, Horvathova M.   +8 more
europepmc   +2 more sources

The Expression Level of ABCC6 Transporter in Colon Cancer Cells Correlates with the Activation of Different Intracellular Signaling Pathways

Pathophysiology, 2022
The ATP-binding cassette sub-family C member 6 transporter (ABCC6) is mainly found in the basolateral plasma membrane of hepatic and kidney cells. In hepatocarcinoma HepG2 cells, ABCC6 was involved in cell migration. In the present study, we investigated
Vittorio Abruzzese, Caecilia H. C. Sukowati, Claudio Tiribelli, Ilenia Matera, Angela Ostuni, Faustino Bisaccia   +5 more
doaj   +1 more source

Anticalcification effects of DS-1211 in pseudoxanthoma elasticum mouse models and the role of tissue-nonspecific alkaline phosphatase in ABCC6-deficient ectopic calcification

Scientific Reports, 2022
Pseudoxanthoma elasticum (PXE) is a multisystem, genetic, ectopic mineralization disorder with no effective treatment. Inhibition of tissue-nonspecific alkaline phosphatase (TNAP) may prevent ectopic soft tissue calcification by increasing endogenous ...
Kaori Soma, Kengo Watanabe, Masanori Izumi   +2 more
doaj   +1 more source

A case of a heterozygous ABCC6 mutation showing recurrent ischemic strokes and intracranial hemorrhages [PDF]

, 2022
Mutations in the ATP-binding cassette subfamily C member 6 (ABCC6) gene are responsible for pseudoxanthoma elasticum (PXE). PXE is a rare genetic metabolic disease with autosomal recessive inheritance that shows ectopic mineralization in skin, eyes and ...
Nakano, Yumiko, Taijun Yunoki, Ikegami, Ken, Uemura, Masahiro, Namiko Matsumoto, Masahiro Uemura, Nozomi Hishikawa, Yunoki, Taijun, Kawahara, Yuko, Hishikawa, Nozomi, Abe, Koji, Koji Abe, Yamashita, Toru, Omote, Yoshio, Yoshiaki Takahashi, Ken Ikegami, Matsumoto, Namiko, Mami Takemoto, Yumiko Nakano, Takahashi, Yoshiaki, Emi Nomura, Nomura, Emi, Yuko Kawahara, Morihara, Ryuta, Toru Yamashita, Takemoto, Mami, Ryuta Morihara, Yoshio Omote   +27 more
core   +2 more sources

The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome

Frontiers in Bioscience-Landmark, 2023
Background: Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette sub-family C member 6 (ABCC6) gene.
Janina Tiemann, Christopher Lindenkamp, Thomas Wagner, Andreas Brodehl, Ricarda Plümers, Isabel Faust-Hinse, Cornelius Knabbe, Doris Hendig   +7 more
doaj   +1 more source

Diabetes-induced vascular calcification is associated with low pyrophosphate and its oral supplementation prevents calcification in diabetic mice. [PDF]

FEBS Open Bio
Induction of diabetes in three different mouse strains uniformly resulted in an increase in TNAP activity and a reduction in pyrophosphate (PPi) in the circulation. Inhibition of TNAP restored plasma PPi. Diabetes‐induced calcification in the media layer of the aorta was detected only in the Abcc6−/− strain, which is predisposed to ectopic ...
Fülöp K, Kozák E, Tőkési N, Kocsis L, Kelemen A, Geszti Z, Kutás A, Harangi M, Diószegi Á, Rapi Z, Balla J, Le Saux O, Váradi A, Pomozi V.   +13 more
europepmc   +2 more sources

The level of hepatic ABCC6 expression determines the severity of calcification after cardiac injury [PDF]

, 2014
Because vascular or cardiac mineralization is inversely correlated with morbidity and long-term survival, we investigated the role of ABCC6 in the calcification response to cardiac injury in mice. By using two models of infarction, nonischemic cryoinjury
Brampton, C., A.A. Bergen, H. Schunkert, Schunkert, H., Aherrahrou, Zouhair, Bergen, A., Aherrahrou, Z., Váradi, András, Le Saux, Olivier, Z. Szabo, A. Varadi, L. Martin, Erdfdi, Jeannette, Varadi, A., C.N. Brampton, Szabo, Z., Schunkert, Heribert, Bergen, Arthur A B, Gorgels, Theo G M F, Z. Aherrahrou, L.H. Chen, O. Le Saux, Brampton, Christopher, Erdmann, Jeannette, Martin, Ludovic, J. Erdmann, Szabó, Zalán, Gorgels, T., T.G. Gorgels, Chen, Li-Hsieh   +29 more
core   +2 more sources

ABCC6 is a basolateral plasma membrane protein [PDF]

, 2013
RATIONALE:: ABCC6 plays a crucial role in ectopic calcification; mutations of the gene cause pseudoxanthoma elasticum and general arterial calcification of infancy.
Brampton, C., Brampton, C, Martin, L, G. Szakacs, Iliás, Attila, S. Paku, Pomozi, Viola, Váradi, András, Szeri, Flóra, Le Saux, Olivier, A. Varadi, Ilias, A., L. Martin, Martin, L., Paku, S., Varadi, A., K. Monostory, Paku, Sándor, Pomozi, V., Monostory, K., Le Saux, O, Szakács, Gergely, Apana, A., C.N. Brampton, Monostory, Katalin, Szeri, F., Le Saux, O., F. Szeri, O. Le Saux, B. Sarkadi, Apana, A, Brampton, Christopher, Sarkadi, B., Sarkadi, Balázs, V. Pomozi, Martin, Ludovic, A. Ilias, A. Apana, Szakacs, G.   +38 more
core   +1 more source

ABCC6 Knockdown Fuels Cell Proliferation by Regulating PPARα in Hepatocellular Carcinoma

Frontiers in Oncology, 2022
The ATP binding cassette (ABC) transporter family is ubiquitous in eukaryotes, specifically in vertebrates, and plays a crucial role in energy homeostasis, cell signaling, and drug resistance.
Zhicong Zhao, Zhicong Zhao, Zhenjun Zhao, Jianye Wang, Jianye Wang, He Zhang, He Zhang, Zhifeng Xi, Qiang Xia, Qiang Xia, Qiang Xia   +10 more
doaj   +1 more source