Results 121 to 130 of about 2,873 (186)

High-dose oral pyrophosphate inhibits connective tissue calcification in Abcc6 null mice but may affect bone structure. [PDF]

JBMR Plus
Rajpar I, Yancy N, Beiriger J, Shao C, Naqvi S, Mancuso D, Niaziorimi F, Tomlinson RE, van de Wetering K.   +8 more
europepmc   +1 more source

DIFFERENTIALLY EXPRESSED PROTEINS IN FIBROBLASTS FROM Abcc6-/- AND Abcc6+/+ MICE HIGHLIGHT THE ROLE OF A LOCALLY ALTERED PHOSPHATE METABOLISM IN THE OCCURRENCE OF ECTOPIC CALCIFICATION

, 2013
Progressive calcification of elastic fibers is typical of Pseudoxanthoma elasticum (PXE), a rare genetic disease due to mutations in the ABCC6 gene.The pathogenesis of mineral- ization is only partially known.1 Previous studies on dermal fibroblasts from
BARTOLOMEO, ANGELICA, QUAGLINO, Daniela, Uitto, J., BORALDI, Federica   +3 more
core  

Identification of a Novel Pathogenic ABCC6 Mutation Through Familial Genetic Analysis in Pseudoxanthoma Elasticum: A Case Report. [PDF]

Cureus
Liang L, Li R, Ren D, Zhou Y.
europepmc   +1 more source

Three People With Recurrent Nephrolithiasis and Heterozygous <i>ABCC6</i> Mutations. [PDF]

Kidney Med
Farrell D, Uribarri J, Pitman TR, Lebwohl M, Rein JL.   +4 more
europepmc   +1 more source

Effects of Ritonavir, Lopinavir, and Alcohol on ABC Transporters and Secretion of Bile Acid and Bilirubin in Senescent Hepatocytes. [PDF]

Int J Mol Sci
Chen L, Duran E, Headrick D, Ji C.
europepmc   +1 more source

Ocular Manifestations Leading to the Diagnosis of Pseudoxanthoma Elasticum with a Novel Heterozygous ABCC6 Mutation: A Case Report. [PDF]

Case Rep Dermatol
Fukuta A, Iwata Y, Yasuda R, Iwanaga A, Murota H, Sugiura K.   +5 more
europepmc   +1 more source

Retinal findings in a patient with mutations in ABCC6 and ABCA4 [PDF]

Eye, 2018
Mahroo, OA, Fujinami, K, Moore, AT, Webster, AR   +3 more
openaire   +2 more sources

Papillary Muscle Calcification as a Rare Cardiac Manifestation of β-Thalassemia-Related Pseudoxanthoma Elasticum-Like Syndrome. [PDF]

Balkan Med J
Gül F, Öztürk Efe D.
europepmc   +1 more source

Heterozygous ABCC6 mutation in a patient with sickle cell disease: Pseudoxanthoma elasticum or pseudoxanthoma elasticum-like phenotype? [PDF]

JAAD Case Rep
Camuñas JC, Rodríguez Martínez BC, Pabón-González F, Medina-Figueroa M, Martin R.   +4 more
europepmc   +1 more source

Case Report: Delivery or not, generalized arterial calcification of infancy in China. [PDF]

Front Med (Lausanne)
Guo Y, Wang J, Gu Y, Ma Q, Lin L.
europepmc   +1 more source