TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
about
TCTN3 mutations cause Mohr-Majewski syndromeDirect role of Bardet-Biedl syndrome proteins in transcriptional regulationMutations in CCDC39 and CCDC40 are the major cause of primary ciliary dyskinesia with axonemal disorganization and absent inner dynein armsMainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutationsCombined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney DiseaseDefects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humansNMNAT1 mutations cause Leber congenital amaurosisSubunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteinsGene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy modelThe role of primary cilia in the development and disease of the retinaCilia/Ift protein and motor -related bone diseases and mouse modelsSpectrum of clinical diseases caused by disorders of primary ciliaCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesIFT proteins accumulate during cell division and localize to the cleavage furrow in ChlamydomonasThe nephronophthisis-related gene ift-139 is required for ciliogenesis in Caenorhabditis elegansInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeIntraflagellar transport complex structure and cargo interactions.Nephronophthisis and related syndromesDisruption of a ciliary B9 protein complex causes Meckel syndromeMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationCiliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19Advances in Skeletal Dysplasia GeneticsIFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndromeThe IFT-A complex regulates Shh signaling through cilia structure and membrane protein traffickingKnockdown of ttc26 disrupts ciliogenesis of the photoreceptor cells and the pronephros in zebrafishIn vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic StressMutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathiesCauli: a mouse strain with an Ift140 mutation that results in a skeletal ciliopathy modelling Jeune syndromeExome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvementMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisMutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndromeAn organelle-specific protein landscape identifies novel diseases and molecular mechanismsShort-rib polydactyly and Jeune syndromes are caused by mutations in WDR60IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndromeTCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport.The mechanosensory structure of the hair cell requires clarin-1, a protein encoded by Usher syndrome III causative geneIn vivo modeling of the morbid human genome using Danio rerioControl of vertebrate intraflagellar transport by the planar cell polarity effector FuzThe intraflagellar transport dynein complex of trypanosomes is made of a heterodimer of dynein heavy chains and of light and intermediate chains of distinct functions.
P2860
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P2860
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
description
2011 nî lūn-bûn
@nan
2011 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@ast
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en-gb
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@nl
type
label
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@ast
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en-gb
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@nl
prefLabel
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@ast
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en-gb
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@nl
P2093
P2860
P50
P356
P1433
P1476
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
@en
P2093
Alice C Young
Baishali Maskeri
Burkhard Tönshoff
Carsten Bergmann
Colin A Johnson
Corinne Stoetzel
David A Wheeler
Donna M Muzny
Erica E Davis
Friedhelm Hildebrandt
P2860
P2888
P304
P356
10.1038/NG.756
P407
P50
P577
2011-01-23T00:00:00Z