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A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
TLDR
These data definitively implicate perturbation of TGFβ signaling in many common human phenotypes, including craniosynostosis, cleft palate, arterial aneurysms, congenital heart disease and mental retardation, and suggest that comprehensive mechanistic insight will require consideration of both primary and compensatory events. Expand
A Transition Zone Complex Regulates Mammalian Ciliogenesis and Ciliary Membrane Composition
TLDR
A transition zone complex of Meckel and Joubert syndrome proteins regulates ciliary assembly and trafficking, suggesting that transition zone dysfunction is the cause of these ciliopathies. Expand
Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia
TLDR
It is shown that schizophrenia is polygenic and the utility of this resource of gene expression and its genetic regulation for mechanistic interpretations of genetic liability for brain diseases is highlighted. Expand
Basal body dysfunction is a likely cause of pleiotropic Bardet–Biedl syndrome
TLDR
It is shown that BBS is probably caused by a defect at the basal body of ciliated cells, and a new BBS gene is cloned, BBS8, which encodes a protein with a prokaryotic domain, pilF, involved in pilus formation and twitching mobility. Expand
The Bardet-Biedl protein BBS4 targets cargo to the pericentriolar region and is required for microtubule anchoring and cell cycle progression
TLDR
It is shown that BBS4 localizes to the centriolar satellites of centrosomes and basal bodies of primary cilia, where it functions as an adaptor of the p150glued subunit of the dynein transport machinery to recruit PCM1 (pericentriolar material 1 protein) and its associated cargo to the satellites. Expand
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates
TLDR
It is shown that mice with mutations in genes involved in Bardet-Biedl syndrome share phenotypes with PCP mutants including open eyelids, neural tube defects and disrupted cochlear stereociliary bundles, and that Vangl2 localizes to the basal body and axoneme of ciliated cells, suggesting that cilia are intrinsically involved in PCP processes. Expand
The ciliopathies: an emerging class of human genetic disorders.
TLDR
The molecular data linking seemingly unrelated clinical entities are beginning to highlight a common theme, where defects in ciliary structure and function can lead to a predictable phenotypic pattern that has potentially predictive and therapeutic value. Expand
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants
TLDR
The results support the hypothesis that rare coding variants can pinpoint causal genes within known genetic loci and illustrate that applying the approach systematically to detect new loci requires extremely large sample sizes. Expand
Seven New Loci Associated with Age-Related Macular Degeneration
TLDR
A collaborative genome-wide association study, including >17,100 advanced AMD cases and >60,000 controls of European and Asian ancestry, identifies 19 loci associated at P < 5 × 10−8, which show enrichment for genes involved in the regulation of complement activity, lipid metabolism, extracellular matrix remodeling and angiogenesis. Expand
Genetic variants near TIMP3 and high-density lipoprotein–associated loci influence susceptibility to age-related macular degeneration
TLDR
A genome-wide association scan for age-related macular degeneration (AMD) showed that 329 of 331 individuals with the highest-risk genotypes were cases, and 85% of these had advanced AMD, consistent with the hypothesis that HDL metabolism is associated with AMD pathogenesis. Expand
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