Establishing a connection between cilia and Bardet-Biedl Syndrome.
about
Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSomeLoss of Bardet-Biedl syndrome proteins alters the morphology and function of motile cilia in airway epitheliaIFT-Cargo Interactions and Protein Transport in CiliaInteraction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degenerationTubby-like protein 3 (TULP3) regulates patterning in the mouse embryo through inhibition of Hedgehog signalingThe intraflagellar transport protein IFT80 is required for cilia formation and osteogenesisKnockdown of the intraflagellar transport protein IFT46 stimulates selective gene expression in mouse chondrocytes and affects early development in zebrafishCartilage abnormalities associated with defects of chondrocytic primary cilia in Bardet-Biedl syndrome mutant mice.Disordered proteinaceous machinesThe Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella.Nephronophthisis: disease mechanisms of a ciliopathy.Regulation of Fto/Ftm gene expression in mice and humans.New structural and functional contexts of the Dx[DN]xDG linear motif: insights into evolution of calcium-binding proteinsGenetic interaction between Bardet-Biedl syndrome genes and implications for limb patterningMORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.Autozygosity mapping of Bardet-Biedl syndrome to 12q21.2 and confirmation of FLJ23560 as BBS10.Ciliary diffusion barrier: the gatekeeper for the primary cilium compartment.Genetic disorders involving molecular-chaperone genes: a perspective.Kinesin-2 controls development and patterning of the vertebrate skeleton by Hedgehog- and Gli3-dependent mechanisms.MKKS is a centrosome-shuttling protein degraded by disease-causing mutations via CHIP-mediated ubiquitination.Diagnosis, pathogenesis, and treatment prospects in cystic kidney disease.The retinal ciliopathies.Ciliary dysfunction in polycystic kidney disease: an emerging model with polarizing potentialMutations in C8ORF37 cause Bardet Biedl syndrome (BBS21)Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.Systemic diseases associated with retinal dystrophies.A NIMA-related kinase, Fa2p, localizes to a novel site in the proximal cilia of Chlamydomonas and mouse kidney cells.Ancient Origin of Chaperonin Gene Paralogs Involved in CiliopathiesBBS4 directly affects proliferation and differentiation of adipocytes.BBSome function is required for both the morphogenesis and maintenance of the photoreceptor outer segment.Primary cilia proteins: ciliary and extraciliary sites and functions.Caloric restriction in Alström syndrome prevents hyperinsulinemia.Genetic variations in KIFC1 and the risk of aspirin exacerbated respiratory disease in a Korean population: an association analysis.Osteoarthritis-Like Changes in Bardet-Biedl Syndrome Mutant Ciliopathy Mice (Bbs1M390R/M390R): Evidence for a Role of Primary Cilia in Cartilage Homeostasis and Regulation of Inflammation.Co-occurrence of distinct ciliopathy diseases in single families suggests genetic modifiers
P2860
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P2860
Establishing a connection between cilia and Bardet-Biedl Syndrome.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@ast
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@en
type
label
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@ast
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@en
prefLabel
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@ast
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@en
P1476
Establishing a connection between cilia and Bardet-Biedl Syndrome.
@en
P2093
Kirk Mykytyn
Val C Sheffield
P304
P356
10.1016/J.MOLMED.2004.01.003
P577
2004-03-01T00:00:00Z