Human dermal fibroblasts derived from oculodentodigital dysplasia patients suggest that patients may have wound‐healing defects
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منابع مشابه
Large-Scaled Metabolic Profiling of Human Dermal Fibroblasts Derived from Pseudoxanthoma Elasticum Patients and Healthy Controls
Mutations in the ABC transporter ABCC6 were recently identified as cause of Pseudoxanthoma elasticum (PXE), a rare genetic disorder characterized by progressive mineralization of elastic fibers. We used an untargeted metabolic approach to identify biochemical differences between human dermal fibroblasts from healthy controls and PXE patients in an attempt to find a link between ABCC6 deficiency...
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The essential role of connexin43 (Cx43) during oogenesis has been demonstrated by the severe germ cell deficiency and arrested folliculogenesis observed in Cx43 knockout mice. Recently, another mutant mouse strain became available (Gja1(Jrt)/+) that carries the dominant loss-of-function Cx43 mutation, Cx43(G60S). Gja1(Jrt)/+ mice display features of the human disease oculodentodigital dysplasia...
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متن کاملDermal fibroblasts from patients with Parkinson’s disease have normal GCase activity and autophagy compared to patients with
Recently, the development of Parkinson’s disease (PD) has Background: been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. We investigated PD and Gaucher Disease (GD) patient derived skin Methods: fibroblasts using biochemistry assays. PD patient derived skin fibroblasts have normal glucocerebrosidase Results: (GCase) activity, whilst ...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2011
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.21472