Results 1 to 10 of about 2,873 (186)

Pediatric ABCC6 deficiency: a genotypic and phenotypic analysis [PDF]

Orphanet Journal of Rare Diseases
Background ABCC6 deficiency is caused by variants in the ABCC6 gene, leading to dysfunction of the ABCC6 protein. This can result in the development of the infantile phenotype, generalized arterial calcification of infancy type 2 (GACI2), or the ...
Marta Bertamino, David J. Goldberg, M. Zulf Mughal, Lisa Pabst, Yaping Joyce Liao, Lisa R. Sun, Jane Beckwell, Amina Kozaric, Ruth du Moulin, Katie Swanner, Carlos R. Ferreira, Shira G. Ziegler   +11 more
doaj   +5 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

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 J, Briseño‐Gascón G, Vega‐Memije M, Guzmán‐Bucio S.   +5 more
europepmc   +2 more sources

ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease [PDF]

Scientific Reports
ABCC6 pathogenic variants affect ischemic and hemorrhagic lesions in multiple organs and represent the third most common cause of hereditary cerebral small vessel diseases (CSVD) in Japan, yet their CSVD phenotypes remains unclear.
Sho Kitahara, Shoichiro Ando, Masahiro Uemura, Yuya Hatano, Hiroaki Nozaki, Daisuke Hirozawa, Emi Nomura, Kohei Okubo, Asami Munekane, Takumi Tashiro, Kanako Asai, Minako Yamaoka, Tomone Taneda, Yutaka Honma, Hajime Kondo, Ryo Itabashi, Akira Iwanaga, Hiroyuki Murota, Hitoshi Aizawa, Tomohiko Ishihara, Osamu Onodera   +20 more
doaj   +2 more sources

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

Investigation on ABCC6-Deficient Human Hepatocytes Generated by CRISPR–Cas9 Genome Editing [PDF]

Cells
Patients affected by the rare disease pseudoxanthoma elasticum (PXE) exhibit the calcification of elastic fibers in ocular, dermal, and vascular tissues. These symptoms are triggered by mutations in the ATP-binding cassette transporter subfamily C member
Ricarda Plümers, Svenja Jelinek, Christopher Lindenkamp, Michel R. Osterhage, Cornelius Knabbe, Doris Hendig   +5 more
doaj   +2 more sources

Loss of ABCC6 in Human Mesenchymal Stem Cells Leads to Elevated Reactive Oxygen Species Formation and a Senescence-like Phenotype [PDF]

Antioxidants
Pseudoxanthoma elasticum (PXE) is an autosomal-recessive disorder caused by mutations in ATP-binding cassette subfamily C member 6 (ABCC6). In addition to the calcification and fragmentation of elastic fibers as the pathomechanistic cause of PXE ...
Michel R. Osterhage, Cornelius Knabbe, Doris Hendig   +2 more
doaj   +2 more sources

Inhibition of ABCC6 Transporter Modifies Cytoskeleton and Reduces Motility of HepG2 Cells via Purinergic Pathway

Cells, 2020
ABCC6, belonging to sub-family C of ATP-binding cassette transporter, is an ATP-dependent transporter mainly present in the basolateral plasma membrane of hepatic and kidney cells.
Angela Ostuni, Mónica Carmosino, Rocchina Miglionico   +2 more
exaly   +3 more sources

ABCC6 deficiency is associated with activation of BMP signaling in liver and kidney

FEBS Open Bio, 2015
Mutations in ABCC6 (ATP‐binding cassette, subfamily C, member 6), an orphan transporter expressed in the liver, are the cause of pseudoxanthoma elasticum.
Ana M Blázquez-Medela, Pierre Guihard, Jiayi Yao   +2 more
exaly   +2 more sources

Liver-directed base editing of ABCC6 prevents ectopic calcification in a variant-humanized mouse model of pseudoxanthoma elasticum [PDF]

Molecular Therapy: Nucleic Acids
Pseudoxanthoma elasticum (PXE) is an autosomal recessive connective tissue disorder characterized by ectopic calcification of elastic fibers throughout the skin, retina, and arteries.
Lauren C. Testa, Dora Obiri-Yeboah, Hooda Said, Ping Qu, Michael A. Levine, Mohamad-Gabriel Alameh, Kiran Musunuru, Qiaoli Li, Xiao Wang   +8 more
doaj   +2 more sources