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Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan.
(2012-05)
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we ...
Impaired myogenic properties of cerebral arteries from the Brown Norway rat.
(2012-05)
OBJECTIVES: The Brown Norway rat is highly susceptible to cerebral haemorrhage when hypertension is induced experimentally, compared with the Long Evans. The aims of the study were to compare the myogenic properties and ...
Embryonic stem cell potency fluctuates with endogenous retrovirus activity.
(2012-06-13)
Embryonic stem (ES) cells are derived from blastocyst-stage embryos and are thought to be functionally equivalent to the inner cell mass, which lacks the ability to produce all extraembryonic tissues. Here we identify a ...