منابع مشابه
Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.
Ciliopathies are genetic disorders that are caused by dysfunctional cilia and affect multiple organs. One type of ciliopathy, Bardet-Biedl syndrome, is a rare disorder characterized by obesity, retinitis pigmentosa, polydactyly, mental retardation and susceptibility to cardiovascular diseases. The Wnt/Planar cell polarity (PCP) has been associated with cilia function and ciliogenesis in directi...
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We have biochemically characterized 13 intragenic suppressors of the G680V mutation of Dictyostelium myosin II. In the absence of the G680V mutation, the suppressors result in a number of deviant behaviors, most commonly an increase in the basal (actin-independent) ATPase of the motor. This phenotype is complementary to that of the G680V mutant and supports our proposal that the latter impairs ...
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With 133 million individuals infected with human immunodeficiency virus type 1 (HIV-1) worldwide, and with 12 million more individuals infected every year [1], the need for an effective HIV-1 vaccine has never been greater. With the recent failure of a T cell immunity vaccine to prevent HIV-1 infection, and with the suggestion that the vaccine actually increased the risk of HIV-1 infection in i...
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Cornelia de Lange syndrome (CdLS) is characterized by facial dysmorphism, growth failure, intellectual disability, limb malformations, and multiple organ involvement. Mutations in five genes, encoding subunits of the cohesin complex (SMC1A, SMC3, RAD21) and its regulators (NIPBL, HDAC8), account for at least 70% of patients with CdLS or CdLS-like phenotypes. To date, only the clinical features ...
متن کاملOverlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
Hereditary spastic paraplegias are a heterogeneous group of neurodegenerative disorders, clinically classified in pure and complex forms. Genetically, more than 70 different forms of spastic paraplegias have been characterized. A subgroup of complicate recessive forms has been distinguished for the presence of thin corpus callosum and white matter lesions at brain imaging. This group includes s...
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ژورنال
عنوان ژورنال: Circulation
سال: 2009
ISSN: 0009-7322,1524-4539
DOI: 10.1161/circulationaha.108.829564