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Novel mutations of ABCC6 gene in Japanese patients with Angioid streaks
Biochemical and Biophysical Research Communications, 2009Angioid streaks (AS) are eye abnormalities caused by breaks in Bruch's membrane. The condition is often associated with pseudoxanthoma elasticum (PXE). The ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6) is reported to be the causal gene for PXE, although there have been no reports on whether the ABCC6 gene is the causal gene for AS ...
Naoyuki, Sato +3 more
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[From gene to disease; pseudoxanthoma elasticum and the ABCC6 gene].
Nederlands tijdschrift voor geneeskunde, 2004Pseudoxanthoma elasticum (PXE) is a hereditary disease of the connective tissue characterized by progressive dystrophic mineralization of elastic fibres. PXE patients have skin lesions, may experience loss of visual acuity and cardiovascular complications. The inheritance pattern of PXE is almost always autosomal recessive.
Bergen, A.A.B +3 more
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Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies
Journal of Bone and Mineral Research, 2021CARLOS R Ferreira +2 more
exaly
ABCC6 and CKD: The Phenotypic Expansion of Pseudoxanthoma Elasticum
Journal of the American Society of Nephrology, 2023Clara Schott +3 more
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ABCC6 et biominéralisation rénale et vasculaire
La survenue de calcifications ectopiques est un problème majeur de santé publique. Les calculs rénaux notamment affectent 10 % de la population générale et peuvent avoir de multiples complications pouvant aller jusqu’à l’insuffisance rénale chronique terminale. Les calculs de type « oxalo-calciques » sont les plus fréquents.openaire +1 more source