*  NPHP4 Variants Are Associated With Pleiotropic Heart MalformationsNovelty and Significance | Circulation Research
Dysfunction of ciliary proteins gives rise to a wide range of human disorders known as ciliopathies. They can lead to a variety ... The dynein regulatory complex is required for ciliary motility and otolith biogenesis in the inner ear. Nature. 2009;457:205- ... the basal body and/or the centrioles and suggest that they participate in ciliary assembly and trafficking.25-28 ... Oda16/wdr69 is essential for axonemal dynein assembly and ciliary motility during zebrafish embryogenesis. Dev Dyn. 2010;239: ...
  http://circres.ahajournals.org/content/110/12/1564.long
*  Major Research Areas | College of Graduate Studies |SUNY Upstate Medical University
Regulation of ciliary dynein activity and assembly, and the role of the central pair complex in ciliary motility regulation. ... bipolar disorder, post-traumatic stress disorder, autism spectrum disorder, and substance abuse disorders, among others. Our ... Molecular basis of cortical-basal ganglia and cortical-cerebellar circuit formation and dysfunction in neurological and ... bipolar disorder, post-traumatic stress disorder, autism spectrum disorder, and substance abuse disorders, among others. Our ...
  http://www.upstate.edu/grad/faculty/major-areas.php
*  Protocols and Video Articles Authored by Erica E. Davis (Translated to Turkish)
This is especially true for disorders of ciliary dysfunction in which an excess of 50 causal loci are now known; this discovery ... CCDC39 is Required for Assembly of Inner Dynein Arms and the Dynein Regulatory Complex and for Normal Ciliary Motility in ... Pifo associates with ciliary targeting complexes and accumulates at the basal body during cilia disassembly. Haploinsufficiency ... Jul, 2010 , Pubmed ID: 20643351 A variety of developmental disorders have been associated with ciliary defects, yet the ...
  https://www.jove.com/author/Erica+E._Davis?language=Turkish
*  Ciliopathy - Wikipedia
A ciliopathy is a genetic disorder of the cellular cilia or the cilia anchoring structures, the basal bodies, or of ciliary ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation." Recent advances in ... A number of common observable characteristics of mammalian genetic disorders and diseases are caused by ciliary dysgenesis and ... which localizes to mitochondria but is believed to affect ciliary function through proteolytic cleavage of ciliary proteins. ...
  https://en.wikipedia.org/wiki/Ciliopathy
*  Primary Ciliary Dyskinesia: Background, Pathophysiology, Epidemiology
Ultrastructural and functional defects of cilia result in the lack of effective ciliary motility, causing abnormal mucociliary ... is an autosomal recessive disease with extensive genetic heterogeneity characterized by abnormal ciliary motion and impaired ... ciliary disorientation, [8] malaligned central pair of microtubules in adjacent cilia, and basal body abnormalities may occur ... Dysfunction of the axonemal structure has been linked to the emerging class of disorders collectively known as ciliopathies, ...
  https://emedicine.medscape.com/article/1002319-overview
*  beta.3 adrenergic receptor agonists and uses thereof - Patent # 6706743 - PatentGenius
... or disorders in a mammal which methods comprise administering to the mammal an effective amount of a compound of Formula (I), a ... Bronchial Relaxation and Ciliary Motility. In vitro activity of the compounds of Formula (I) for the treatment of airway ... In vivo activity of the compounds of Formula (I) for the treatment or prevention of intestinal motility disorders can be ... and a basal blood sample (0.5 ml) is obtained from thearterial catheter. After obtaining basal values, the test compound or ...
  http://www.patentgenius.com/patent/6706743.html
*  Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects...
... genetically heterogeneous ciliopathy disorder affecting cilia and sperm motility. A range of ultrastructural defects of the ... ARMC4 transcript levels were undetectable in non-ciliated basal NHBE cells, whereas after ciliogenesis, a significant ... Primary ciliary dyskinesia (PCD; MIM244400) is a heterogeneous genetic disorder arising from ultrastructural defects that cause ... DYX1C1 is required for axonemal dynein assembly and ciliary motility. Nat Genet 2013;45:995-1003. ...
  https://jmg.bmj.com/content/51/1/61
*  The base of the cilium: roles for transition fibres and the transition zone in ciliary formation, maintenance and...
These include, for example, the basal plate, which might anchor the central pair required for motility. ... Table 1. Functions and associated disorders of proteins that localize to the ciliary transition zone. ... Kunimoto K et al (2012) Coordinated ciliary beating requires Odf2ÔÇÉmediated polarization of basal bodies via basal feet. Cell ... seem to partake in ciliary cargo transport from the Golgi to the ciliary base near the basal body [[44],[45],[46],[47],[48]]. ...
  http://embor.embopress.org/content/13/7/608.share
*  Cilia in left-right asymmetry | Philosophical Transactions of the Royal Society B: Biological Sciences
2015 Unique among ciliopathies: primary ciliary dyskinesia, a motile cilia disorder. F1000Prime Rep. 7, 36. (doi:10.12703/P7-36 ... patients with cilia motility defects [16-18], indicating that loss of cilia motility can result in either reversed or ambiguous ... Such positioning of LRO cilia appears to be mediated by movement of the cilium base, or basal body, to the posterior pole of ... 2009 Disorders of left-right asymmetry: heterotaxy and situs inversus. Am. J. Med. Genet. C Semin. Med. Genet. 151C, 307-317. ( ...
  http://rstb.royalsocietypublishing.org/content/371/1710/20150410
*  Alpha Omega Alpha - 2014 Research Abstract
... which is part of a cilia motility regulator complex, from the cilia basal body into the ciliary membrane. To test these ... of new phenotypes of genetic and acquired cilia disorders that are based on dysregulation of IFTs in ciliary motility and not ... The role of IFT88 on ciliogenesis of motile respiratory epithelium and the regulation of ciliary motility. Investigator: Grant ... We also measured changes in ciliary beat frequency (CBF) triggered by methacholine (MCH), a ciliary agonist that requires IFT88 ...
  http://alphaomegaalpha.org/student_research_abstract_turner
*  Protocols and Video Articles Authored by Alexander G. Bassuk
CAPN5 is only the second member of the large calpain gene family to cause a human Mendelian disorder, and this is the first ... Although motile ciliary abnormalities in Prickle2 mutants have not yet been described, the planar cell polarity genes, ... In addition, afferents from the apex show unusual collaterals in the cochlear nuclei that overlap with basal turn afferents. ... Prickle2-deficient mice do not develop hydrocephalus, but do display abnormal morphology and motility in the motile cilia of ...
  https://www.jove.com/author/Alexander++G._Bassuk
*  Bronchiectasis - Pulmonary Disorders - Merck Manuals Professional Edition
... lack of ciliary motility in PCD, or damage to the cilia and/or airways secondary to infection or injury) and impaired host ... News) Basal Metabolic Rate Down After CPAP Initiation in OSA * (Video) Thoracentesis ... Ciliary ultrastructure may also be normal in some patients with PCD syndromes, requiring further testing to identify abnormal ... Congenital defects in mucociliary clearance such as primary ciliary dyskinesia (PCD) syndromes may also be a cause, explaining ...
  http://www.merckmanuals.com/professional/pulmonary-disorders/bronchiectasis-and-atelectasis/bronchiectasis?Ref=s&RefId=/pulmonary_disorders/interstitial_lung_diseases/idiopathic_pulmonary_fibrosis&Plugin=WMP&Speed=256&ItemId=v918577
*  Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without...
Ciliary disorder of the skeleton. Am J Med Genet C Semin Med Genet 2012;160:165-74. ... Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet ... 1120-1520) thought to change position in different nucleotide states to create the powerstroke for motility along microtubules ... Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012;67:433-41. ...
  http://jmg.bmj.com/content/early/2013/02/28/jmedgenet-2012-101284
*  Ciliopathy with Special Emphasis on Kartageners Syndrome
Infertility is common, due to defective ciliary action in the fallopian tube in affected females or diminished sperm motility ... primary ciliary dyskinesia is a rare autosomal recessive genetic disorder characterised by Sinus Inversus, Bronchiectasis and ... Electron microscopy of nasal and bronchial mucosa showed abnormal orientation of the basal processes of the cilia and absent ... In Kartagener's syndrome (KS), primary defects of the ciliary axoneme cause dyskinetic ciliary motion. Because ciliary motion ...
  http://pubmedcentralcanada.ca/pmcc/articles/PMC3068795/?lang=en-ca
*  The cell biological basis of ciliary disease | JCB
However, both types of diseases result from defects in genes whose protein products localize to the ciliary basal body. Why ... These mutants show defects in ciliary motility but no dramatic hedgehog phenotypes. It is difficult to compare mouse and fish ... The ciliopathies: an emerging class of human genetic disorders. Annu. Rev. Genomics Hum. Genet. 7:125-148. ... or retinal degeneration because these symptoms arise from defects in ciliary structures that are not involved in motility. ...
  http://jcb.rupress.org/content/180/1/17
*  Cilium - Wikipedia
The ciliary rootlet is a cytoskeleton-like structure that originates from the basal body at the proximal end of a cilium. It ... In another genetic disorder called Bardet-Biedl syndrome (BBS), the mutant gene products are the components in the basal body ... sometimes coupling the signaling to ciliary motility or alternatively to cell division and differentiation.". Larger eukaryotes ... At the base of the cilium where it attaches to the cell body is the microtubule organizing center, the basal body. Some basal ...
  https://en.wikipedia.org/wiki/Cilium
*  Intraflagellar transport - Wikipedia
1993). "A motility in the eukaryotic flagellum unrelated to flagellar beating". Proc Natl Acad Sci U S A. 90: 5519-23. doi: ... These and possibly many more disorders may be better understood via study of IFT. One of the most recent discoveries regarding ... Sedmak T, Wolfrum U (April 2010). "Intraflagellar transport molecules in ciliary and nonciliary cells of the retina". J. Cell ... for example they interact with components of the basal body like CEP170 or proteins which are required for cilium formation ...
  https://en.wikipedia.org/wiki/Intraflagellar_transport
*  Mark Krasnow | Stanford Medicine Profiles
The transcriptional control of primary cilium formation and ciliary motility are beginning to be understood, but little is ... This suggests that the defect lies either in transmission of the FGF signal from the basal surface to the rest of the cell or ... collected from newborn babies onto filter paper called Guthrie cards and used to screen for metabolic and genetic disorders. ... a transcription factor that controls centriole docking and ciliary motility, and airways fail to become fully ciliated. We ...
  https://med.stanford.edu/profiles/mark-krasnow
*  TETRAHYDRO-CYCLOPENTYL PYRAZOLE CANNABINOID MODULATORS - Patent application
... esophageal and gastrointestinal motility), lung smooth muscle cells (bronchodilation), eye ciliary body (intraocular pressure ... disorders, bowel disorders, respiratory disorders, locomotor activity disorders, movement disorders, immune disorders or ... basal ganglia (movement control), hypothalamus (thermal regulation, neuroendocrine release, appetite), spinal cord (nociception ... bowel disorders, respiratory disorders, locomotor activity or movement disorders, immune and inflammation disorders, ...
  http://www.patentsencyclopedia.com/app/20100279991
*  Ocular Anterior Segment Dysgenesis upon Ablation of p120 Catenin in Neural Crest Cells | IOVS | ARVO Journals
5A, 5B). The ciliary body in these mutant mice was hypoplastic and much less folded than in WT litter mates (Figs. 5C, 5D). In ... Regulation of cell adhesions and motility during initiation of neural crest migration. Curr Opin Neurobiol . 2011;21:17-22. [ ... A spectrum of developmental disorders. Surv Ophthalmol . 1985;29:387-409. [CrossRef] [PubMed] ... with flattened squamous apical cells and several layers of cuboidal-basal cells. Corneal stroma (Str) consists of regularly ...
  http://iovs.arvojournals.org/article.aspx?articleid=2165855
*  GAS8 - Growth arrest-specific protein 8 - Homo sapiens (Human) - GAS8 gene & protein
May play a role in cilia motility (PubMed:26387594). ... May play a role in the spermatozoa motility (By similarity). ... ciliary basal body Source: UniProtKB. *microtubule Source: UniProtKB ,p>Inferred from Direct Assay,/p> ,p>Used to indicate a ... Disease descriptionA form of primary ciliary dyskinesia, a disorder characterized by abnormalities of motile cilia. Respiratory ... May play a role in the spermatozoa motility (By similarity). May play a role in cilia motility (PubMed:26387594).By similarity ...
  http://www.uniprot.org/uniprot/O95995
*  SelfDecode | Genome Analysis
Chronobiology Disorders PPARG. Ciliary Dyskinesia, Primary, 7 DNAH11. Ciliary Motility Disorders IFT122. ... Basal Cell Carcinoma ERBB2,GLI2,TP53. Craniosynostoses BMP2,EZH2,IFT122. Neurodegenerative Diseases PKD2,PSEN1,SOD2. ...
  https://www.selfdecode.com/molecular-function/GO:0007507/
*  Plus it
2000) Extracellular acidification decreases the basal motility of cultured mouse microglia via the rearrangement of the actin ... 1999) Repeated injections of a ciliary neurotrophic factor analogue leading to long-term photoreceptor survival in hereditary ... 1999) C10 is a novel chemokine expressed in experimental inflammatory demyelinating disorders that promotes recruitment of ... 1997) Epidermal growth factor is a motility factor for microglial cells in vitro: evidence for EGF receptor expression. Eur J ...
  http://www.jneurosci.org/content/22/21/9228
*  Cluap1 is Essential for Ciliogenesis and Photoreceptor Maintenance in the Vertebrate Eye | IOVS | ARVO Journals
We expressed Cluap1-GFP and observed that it localized to both the basal body and the axoneme in a pattern similar to IFT20, a ... Badano JL Mitsuma N Beales PL Katsanis N. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum ... Chaya T Omori Y Kuwahara R Furukawa T. ICK is essential for cell type-specific ciliogenesis and the regulation of ciliary ... 4 Intraflagellar transport involves the bidirectional motility of a multisubunit protein complex, called the IFT particle, ...
  http://iovs.arvojournals.org/article.aspx?articleid=2129049
*  Ciliogenesis - Wikipedia
This requires an active mechanism that maintains ciliary length. Impairments in these mechanisms can affect the motility of the ... Once the alignment is determined, axonemal microtubules extend from the basal body and go beneath the developing ciliary ... An emerging class of human genetic disorders". Annual Review of Genomics and Human Genetics. 7 (1): 125-148. doi:10.1146/ ... Ciliary defects can lead to a broad range of human diseases known as ciliopathies that are caused by mutations in ciliary ...
  https://en.wikipedia.org/wiki/Ciliogenesis