(Q38546971)

4 September 2017

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title

Unmasking the ciliopathies: craniofacial defects and the primary cilium (English)

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4 September 2017

Claudio R Cortés

1

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Vicki Metzis

object named as

Vicki Metzis

series ordinal

2

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Carol Wicking

object named as

Carol Wicking

series ordinal

3

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publication date

14 July 2015

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Wiley interdisciplinary reviews. Developmental biology

4 September 2017

published in

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4 September 2017

volume

4

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4 September 2017

issue

6

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4 September 2017

page(s)

637-653

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Randomization of left-right asymmetry due to loss of nodal cilia generating leftward flow of extraembryonic fluid in mice lacking KIF3B motor protein

4 September 2017

cites work

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Centrioles and the formation of rudimentary cilia by fibroblasts and smooth muscle cells

21 January 2018

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Stages of ciliogenesis and regulation of ciliary length

21 January 2018

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Flagellar membrane localization via association with lipid rafts

21 January 2018

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Ciliogenesis: building the cell's antenna

21 January 2018

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Cilia and the cell cycle?

21 January 2018

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Centriole ciliation is related to quiescence and DNA synthesis in 3T3 cells

21 January 2018

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The transition zone: an essential functional compartment of cilia

21 January 2018

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A septin diffusion barrier at the base of the primary cilium maintains ciliary membrane protein distribution

21 January 2018

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Planar cell polarity acts through septins to control collective cell movement and ciliogenesis.

21 January 2018

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A ciliopathy complex at the transition zone protects the cilia as a privileged membrane domain

21 January 2018

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A motility in the eukaryotic flagellum unrelated to flagellar beating

21 January 2018

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Chlamydomonas kinesin-II-dependent intraflagellar transport (IFT): IFT particles contain proteins required for ciliary assembly in Caenorhabditis elegans sensory neurons

21 January 2018

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SnapShot: Intraflagellar transport

21 January 2018

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Architecture and function of IFT complex proteins in ciliogenesis

21 January 2018

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Functional genomic screen for modulators of ciliogenesis and cilium length

21 January 2018

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The Golgin GMAP210/TRIP11 anchors IFT20 to the Golgi complex

21 January 2018

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Centriolar satellites: key mediators of centrosome functions

21 January 2018

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Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

21 January 2018

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The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium

21 January 2018

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BBS mutations modify phenotypic expression of CEP290-related ciliopathies

21 January 2018

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Centriolar satellites: busy orbits around the centrosome

21 January 2018

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Polycystin-2 localizes to kidney cilia and the ciliary level is elevated in orpk mice with polycystic kidney disease

21 January 2018

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The intraflagellar transport protein, IFT88, is essential for vertebrate photoreceptor assembly and maintenance

21 January 2018

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Hedgehog signalling in the mouse requires intraflagellar transport proteins

21 January 2018

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A paracrine requirement for hedgehog signalling in cancer

21 January 2018

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Mouse intraflagellar transport proteins regulate both the activator and repressor functions of Gli transcription factors

21 January 2018

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Vertebrate Smoothened functions at the primary cilium

21 January 2018

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Gli2 and Gli3 localize to cilia and require the intraflagellar transport protein polaris for processing and function

21 January 2018

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Primary cilia and graded Sonic Hedgehog signaling

21 January 2018

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PDGFRalphaalpha signaling is regulated through the primary cilium in fibroblasts

21 January 2018

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A role for the primary cilium in Notch signaling and epidermal differentiation during skin development

21 January 2018

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Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

21 January 2018

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Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

21 January 2018

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The MST1/2-SAV1 complex of the Hippo pathway promotes ciliogenesis

21 January 2018

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FGF signalling during embryo development regulates cilia length in diverse epithelia

21 January 2018

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Notch signalling regulates left-right asymmetry through ciliary length control

21 January 2018

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Ciliopathies: an expanding disease spectrum

21 January 2018

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Making sense of cilia in disease: the human ciliopathies.

21 January 2018

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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

21 January 2018

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Variable expressivity of ciliopathy neurological phenotypes that encompass Meckel-Gruber syndrome and Joubert syndrome is caused by complex de-regulated ciliogenesis, Shh and Wnt signalling defects

21 January 2018

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Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

21 January 2018

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Correction of a genetic disease in mouse via use of CRISPR-Cas9.

21 January 2018

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Zebrafish models in translational research: tipping the scales toward advancements in human health

21 January 2018

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Functional analyses of variants reveal a significant role for dominant negative and common alleles in oligogenic Bardet-Biedl syndrome

21 January 2018

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The emerging face of primary cilia

21 January 2018

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Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

21 January 2018

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Tectonic gene mutations in patients with Joubert syndrome.

21 January 2018

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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin

21 January 2018

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Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

21 January 2018

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Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

21 January 2018

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A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

21 January 2018

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Joubert syndrome and related disorders

21 January 2018

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Genomic analysis of Meckel-Gruber syndrome in Arabs reveals marked genetic heterogeneity and novel candidate genes

21 January 2018

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Meckel-Gruber syndrome and the role of primary cilia in kidney, skeleton, and central nervous system development

21 January 2018

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Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy

21 January 2018

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Update on the genetics of bardet-biedl syndrome

21 January 2018

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IFT27, encoding a small GTPase component of IFT particles, is mutated in a consanguineous family with Bardet-Biedl syndrome

21 January 2018

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Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome

21 January 2018

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Identification of the gene for oral-facial-digital type I syndrome

21 January 2018

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The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

21 January 2018

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Mutations in DDX59 implicate RNA helicase in the pathogenesis of orofaciodigital syndrome

21 January 2018

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

21 January 2018

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DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

21 January 2018

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Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

21 January 2018

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Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophy

21 January 2018

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IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

21 January 2018

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A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies

21 January 2018

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Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

21 January 2018

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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

21 January 2018

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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

21 January 2018

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Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy

21 January 2018

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Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

21 January 2018

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C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

21 January 2018

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Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

21 January 2018

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Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

21 January 2018

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NEK1 mutations cause short-rib polydactyly syndrome type majewski

21 January 2018

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Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

21 January 2018

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Human and mouse mutations in WDR35 cause short-rib polydactyly syndromes due to abnormal ciliogenesis

21 January 2018

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

21 January 2018

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TCTN3 mutations cause Mohr-Majewski syndrome

21 January 2018

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Formation and migration of neural crest cells in the vertebrate embryo

21 January 2018

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Neural crest cell dynamics revealed by time-lapse video microscopy of whole embryo chick explant cultures.

21 January 2018

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Neural crest migration is driven by a few trailblazer cells with a unique molecular signature narrowly confined to the invasive front

21 January 2018

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A primary cilia-dependent etiology for midline facial disorders.

21 January 2018

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Hedgehog signaling in the neural crest cells regulates the patterning and growth of facial primordia

21 January 2018

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A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis

21 January 2018

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The BBSome controls IFT assembly and turnaround in cilia

21 January 2018

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Does Bardet-Biedl syndrome have a characteristic face?

21 January 2018

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Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome

21 January 2018

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BBS proteins interact genetically with the IFT pathway to influence SHH-related phenotypes

21 January 2018

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A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened

21 January 2018

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly

21 January 2018

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Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe

21 January 2018

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Quantitative analyses link modulation of sonic hedgehog signaling to continuous variation in facial growth and shape

21 January 2018

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KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

21 January 2018

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A new oculorenal syndrome: retinal dystrophy and tubulointerstitial nephropathy in cranioectodermal dysplasia

21 January 2018

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Taking it to the max: the genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology

21 January 2018

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Molecular mechanisms of cranial neural crest cell migration and patterning in craniofacial development.

21 January 2018

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New insights into craniofacial morphogenesis

21 January 2018

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Development of the upper lip: morphogenetic and molecular mechanisms

21 January 2018

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Developmental alterations associated with spontaneous cleft lip and palate in CL/Fr mice.

21 January 2018

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Mouse genetic models of cleft lip with or without cleft palate

21 January 2018

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Palatogenesis: morphogenetic and molecular mechanisms of secondary palate development

21 January 2018

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Mutations in mouse Ift144 model the craniofacial, limb and rib defects in skeletal ciliopathies

21 January 2018

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Intraflagellar transport protein 122 antagonizes Sonic Hedgehog signaling and controls ciliary localization of pathway components

21 January 2018

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THM1 negatively modulates mouse sonic hedgehog signal transduction and affects retrograde intraflagellar transport in cilia

21 January 2018

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Sonic hedgehog signalling inhibits palatogenesis and arrests tooth development in a mouse model of the nevoid basal cell carcinoma syndrome

21 January 2018

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A mouse model of greig cephalopolysyndactyly syndrome: the extra-toesJ mutation contains an intragenic deletion of the Gli3 gene

21 January 2018

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Fuz mutant mice reveal shared mechanisms between ciliopathies and FGF-related syndromes

21 January 2018

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Control of vertebrate intraflagellar transport by the planar cell polarity effector Fuz

21 January 2018

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Nevoid basal cell carcinoma syndrome: review of 118 affected individuals

21 January 2018

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A zone of frontonasal ectoderm regulates patterning and growth in the face.

21 January 2018

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Patched1 is required in neural crest cells for the prevention of orofacial clefts

21 January 2018

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Ciliary disorder of the skeleton

21 January 2018

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Sensenbrenner syndrome (Cranioectodermal dysplasia): clinical and molecular analyses of 39 patients including two new patients.

21 January 2018

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Subunit composition of the human cytoplasmic dynein-2 complex

21 January 2018

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Characterization of the intraflagellar transport complex B core: direct interaction of the IFT81 and IFT74/72 subunits

21 January 2018

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The Chlamydomonas reinhardtii BBSome is an IFT cargo required for export of specific signaling proteins from flagella

21 January 2018

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Localization of intraflagellar transport protein IFT52 identifies basal body transitional fibers as the docking site for IFT particles

21 January 2018

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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition

21 January 2018

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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways

21 January 2018

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Meckel syndrome: what are the minimum diagnostic criteria?

21 January 2018

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The Meckel syndrome: clinicopathological findings in 67 patients

21 January 2018

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Clinical features and revised diagnostic criteria in Joubert syndrome

21 January 2018

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Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients

21 January 2018

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Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification

21 January 2018

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Ofd1, a human disease gene, regulates the length and distal structure of centrioles

21 January 2018

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C2cd3 is required for cilia formation and Hedgehog signaling in mouse.

21 January 2018

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A Syndrome Characterized by Ectodermal Dysplasia, Polydactyly, Chondro-Dysplasia and Congenital Morbus Cordis: Report of Three Cases

21 January 2018

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Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis

21 January 2018

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Ellis-van Creveld syndrome: craniofacial morphology and multidisciplinary treatment

21 January 2018

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Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome

21 January 2018

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A Smoothened-Evc2 complex transduces the Hedgehog signal at primary cilia

21 January 2018

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Transcriptome analysis reveals novel players in the cranial neural crest gene regulatory network

21 January 2018

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Dynamic and differential regulation of stem cell factor FoxD3 in the neural crest is Encrypted in the genome

21 January 2018

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Oral–facial–digital syndromes: Review and diagnostic guidelines

21 January 2018

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A polycystic kidney-disease gene homologue required for male mating behaviour in C. elegans

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/WDEV.199

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4 September 2017

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