Pages that link to "Q22337032"

The following pages link to The Ciliopathies: An Emerging Class of Human Genetic Disorders (Q22337032):

Displaying 50 items.

• Identification and characterization of novel human tissue-specific RFX transcription factors (Q21093412) (← links)
• Common variants in left/right asymmetry genes and pathways are associated with relative hand skill (Q21144887) (← links)
• The dynamic cilium in human diseases (Q21202039) (← links)
• Joubert Syndrome and related disorders (Q21202880) (← links)
• A complex of BBS1 and NPHP7 is required for cilia motility in zebrafish (Q21558497) (← links)
• Of ion pumps, sensors and channels — Perspectives on microbial rhodopsins between science and history (Q21564053) (← links)
• Identification of a gene for renal-hepatic-pancreatic dysplasia by microarray-based homozygosity mapping (Q22001522) (← links)
• Basal body stability and ciliogenesis requires the conserved component Poc1 (Q22001530) (← links)
• BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly (Q24295491) (← links)
• A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened (Q24296671) (← links)
• RTTN mutations link primary cilia function to organization of the human cerebral cortex (Q24297843) (← links)
• Structural basis for Arl3-specific release of myristoylated ciliary cargo from UNC119. (Q24298355) (← links)
• Cep164, a novel centriole appendage protein required for primary cilium formation (Q24298367) (← links)
• Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 (Q24299855) (← links)
• A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia (Q24300196) (← links)
• Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy (Q24300810) (← links)
• Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling (Q24301800) (← links)
• Ofd1, a human disease gene, regulates the length and distal structure of centrioles (Q24303311) (← links)
• The spinocerebellar ataxia-associated gene Tau tubulin kinase 2 controls the initiation of ciliogenesis (Q24303418) (← links)
• Direct role of Bardet-Biedl syndrome proteins in transcriptional regulation (Q24304311) (← links)
• RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity (Q24305935) (← links)
• Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis (Q24309344) (← links)
• A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies (Q24309499) (← links)
• Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins (Q24310078) (← links)
• The Zn finger protein Iguana impacts Hedgehog signaling by promoting ciliogenesis (Q24310161) (← links)
• CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium (Q24310530) (← links)
• The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone (Q24314723) (← links)
• Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia (Q24315070) (← links)
• The Talpid3 gene (KIAA0586) encodes a centrosomal protein that is essential for primary cilia formation (Q24316483) (← links)
• TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein (Q24316522) (← links)
• BBS mutations modify phenotypic expression of CEP290-related ciliopathies (Q24317466) (← links)
• OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin (Q24320320) (← links)
• Functional dissection of Rab GTPases involved in primary cilium formation (Q24321757) (← links)
• INPP5E mutations cause primary cilium signaling defects, ciliary instability and ciliopathies in human and mouse (Q24323384) (← links)
• A BBSome subunit links ciliogenesis, microtubule stability, and acetylation (Q24336047) (← links)
• The Joubert syndrome-associated missense mutation (V443D) in the Abelson-helper integration site 1 (AHI1) protein alters its localization and protein-protein interactions (Q24337384) (← links)
• The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation (Q24337819) (← links)
• Cep97 and CP110 suppress a cilia assembly program (Q24338361) (← links)
• Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans (Q24338649) (← links)
• Subunit interactions and organization of the Chlamydomonas reinhardtii intraflagellar transport complex A proteins (Q24602508) (← links)
• A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa (Q24619758) (← links)
• Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model (Q24629863) (← links)
• The role of primary cilia in neuronal function (Q24632925) (← links)
• The primary cilium as a cellular signaling center: lessons from disease (Q24632942) (← links)
• Physiology and pathophysiology of respiratory mucosa of the nose and the paranasal sinuses. (Q24634722) (← links)
• CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290 (Q24644138) (← links)
• Analysis of 30 genes (355 SNPS) related to energy homeostasis for association with adiposity in European-American and Yup'ik Eskimo populations (Q24644635) (← links)
• The hydrolethalus syndrome protein HYLS-1 links core centriole structure to cilia formation (Q24647436) (← links)
• CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation (Q24650658) (← links)
• Structure and function of mammalian cilia (Q24654284) (← links)