Results 151 to 160 of about 3,078 (183)
Prenatal phenotypes and pregnancy outcomes of fetuses with recurrent 16p13.11 microduplications. [PDF]
Medicine (Baltimore)Xu T, Yue F, Ge Y, Liu R.
europepmc +1 more source
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy. [PDF]
Invest Ophthalmol Vis SciMartins PM +6 more
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Heterozygous HTRA1-related Cerebral Small Vessel Disease with Short Stature and Limbs. [PDF]
Intern MedSerizawa Y +6 more
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ABCC6, Pyrophosphate and Ectopic Calcification: Therapeutic Solutions [PDF]
International Journal of Molecular Sciences, 2021 Pathological (ectopic) mineralization of soft tissues occurs during aging, in several common conditions such as diabetes, hypercholesterolemia, and renal failure and in certain genetic disorders. Pseudoxanthoma elasticum (PXE), a multi-organ disease affecting dermal, ocular, and cardiovascular tissues, is a model for ectopic mineralization disorders ...
Ludovic Martin +2 more
exaly +4 more sources
Dysregulation of gene expression in ABCC6 knockdown HepG2 cells [PDF]
Cellular and Molecular Biology Letters, 2014 AbstractABCC6 protein is an ATP-dependent transporter that is mainly found in the basolateral plasma membrane of hepatocytes. ABCC6 deficiency is the primary cause of several forms of ectopic mineralization syndrome. Mutations in the human ABCC6 gene cause pseudoxanthoma elasticum (PXE), an autosomal recessive disease characterized by ectopic ...
Maria Francesca Armentano +2 more
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From membrane to mineralization: the curious case of the ABCC6 transporter [PDF]
FEBS Letters, 2020 ATP‐binding cassette subfamily C member 6 gene/protein (ABCC6) is an ATP‐dependent transmembrane transporter predominantly expressed in the liver and the kidney. ABCC6 first came to attention in human medicine when it was discovered in 2000 that mutations in its encoding gene, ABCC6, caused the autosomal recessive multisystemic mineralization disease ...
Shana Verschuere +2 more
exaly +4 more sources
ABCC6 Localizes to the Mitochondria-Associated Membrane [PDF]
Circulation Research, 2012 Rationale: Mutations of the orphan transporter ABCC6 (ATP-binding cassette, subfamily C, member 6) cause the connective tissue disorder pseudoxanthoma elasticum.
Harpreet Singh +2 more
exaly +3 more sources
Targeting ABCC6 in Mesenchymal Stem Cells: Impairment of Mature Adipocyte Lipid Homeostasis
International Journal of Molecular Sciences, 2022 Mutations in ABCC6, an ATP-binding cassette transporter with a so far unknown substrate mainly expressed in the liver and kidney, cause pseudoxanthoma elasticum (PXE).
Doris Hendig, Ricarda Plümers
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