Results 111 to 120 of about 2,584 (187)

Multi-State Structural Genomics Enables Large-Scale, Mechanistic, and Context-Specific Classification of ABCC6 Genetic Variants Implicated in Calcification Diseases. [PDF]

Int J Mol Sci
Wagenknecht JB, Haque N, Jorge SD, Ratnasinghe BD, Urrutia R, Gahl WA, Ziegler SG, Zimmermann MT.   +7 more
europepmc   +1 more source

Japanese intractable and rare dermatologic diseases: From the official skin-centered nanbyo core to an illustrative mechanism-based framework. [PDF]

Intractable Rare Dis Res
Han Y, Qin TG, Song P.
europepmc   +1 more source

Pseudoxanthoma elasticum (PXE).

Skin research, 1985
openaire   +1 more source

The liver regulates ectopic calcification in Abcc6-deficient models of pseudoxanthoma elasticum. [PDF]

J Clin Invest
Wang Y, Sun B, Ma F, Tao B, Gu Y, Zhou Z, Kim J, Zhang L, Liu Z, Ten Hoeve J, Stiles L, Fernandez Del Rio L, Pan C, Shirihai O, Xu S, Graeber TG, Sallam T, Pellegrini M, Lusis AJ, Deb A.   +19 more
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

Unique Intravascular Ultrasound and Optical Coherence Tomography Features of Multivessel Coronary Stenosis in Pseudoxanthoma Elasticum. [PDF]

JACC Case Rep
Tashiro K, Ikegami R, Hoyano M, Usuda H, Washiyama Y, Akiyama T, Nishida K, Kubota N, Okubo T, Inomata T.   +9 more
europepmc   +1 more source

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

Antioxidants (Basel)
Osterhage MR, Knabbe C, Hendig D.
europepmc   +1 more source

A curious case of cutaneous elastolysis. [PDF]

JAAD Case Rep
Vanaria RJ, Green C, Sapadin A.
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

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