A meckelin-filamin A interaction mediates ciliogenesis (Q24298551)

Filamin A

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filamin binding

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Transmembrane protein 67

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Margaret A Knowles

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Gabrielle Wheway

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Clare V Logan

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John A Sayer

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Keith Gull

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author name string

Matthew Adams

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Roslyn J Simms

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Zakia Abdelhamed

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Helen R Dawe

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Katarzyna Szymanska

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Eva Pitt

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Edward Blair

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Sally H Cross

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Colin A Johnson

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

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language of work or name

English

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publication date

15 March 2012

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published in

Human Molecular Genetics

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volume

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issue

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page(s)

1272-86

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cites work

1 reference

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Functional genomic screen for modulators of ciliogenesis and cilium length

19 March 2017

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Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

19 March 2017

1 reference

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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome

19 March 2017

1 reference

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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation

19 March 2017

1 reference

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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

19 March 2017

1 reference

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FilGAP, a Rho- and ROCK-regulated GAP for Rac binds filamin A to control actin remodelling

19 March 2017

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Deacetylase activity associates with topoisomerase II and is necessary for etoposide-induced apoptosis

19 March 2017

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A gene for Meckel syndrome maps to chromosome 11q13.

19 March 2017

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MKS and NPHP modules cooperate to establish basal body/transition zone membrane associations and ciliary gate function during ciliogenesis

19 March 2017

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PCP effector gene Inturned is an important regulator of cilia formation and embryonic development in mammals

19 March 2017

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Identification and characterization of multiple similar ligand-binding repeats in filamin: implication on filamin-mediated receptor clustering and cross-talk

19 March 2017

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The planar cell polarity effector Fuz is essential for targeted membrane trafficking, ciliogenesis and mouse embryonic development

19 March 2017

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Nephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6

19 March 2017

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Impaired Wnt-beta-catenin signaling disrupts adult renal homeostasis and leads to cystic kidney ciliopathy

19 March 2017

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Nesprin-2 interacts with meckelin and mediates ciliogenesis via remodelling of the actin cytoskeleton

19 March 2017

1 reference

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Ciliary proteins link basal body polarization to planar cell polarity regulation

19 March 2017

1 reference

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Ftm is a novel basal body protein of cilia involved in Shh signalling

19 March 2017

1 reference

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RhoA-mediated apical actin enrichment is required for ciliogenesis and promoted by Foxj1

19 March 2017

1 reference

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Migfilin and Mig-2 link focal adhesions to filamin and the actin cytoskeleton and function in cell shape modulation

19 March 2017

1 reference

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Filamin is essential in actin cytoskeletal assembly mediated by p21-activated kinase 1

19 March 2017

1 reference

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Increased filamin binding to beta-integrin cytoplasmic domains inhibits cell migration

19 March 2017

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Rho GTPases and signaling networks

19 March 2017

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

19 March 2017

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7 April 2017

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Wnt proteins are lipid-modified and can act as stem cell growth factors

7 April 2017

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Recent advances in the molecular pathology, cell biology and genetics of ciliopathies

7 April 2017

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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

27 September 2017

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Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

27 September 2017

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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.

27 September 2017

1 reference

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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome

27 September 2017

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Protein interaction mapping: a Drosophila case study

27 September 2017

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The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

27 September 2017

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Zebrafish prickle, a modulator of noncanonical Wnt/Fz signaling, regulates gastrulation movements.

27 September 2017

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

27 September 2017

1 reference

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Ciliogenesis defects in embryos lacking inturned or fuzzy function are associated with failure of planar cell polarity and Hedgehog signaling

27 September 2017

1 reference

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A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

30 May 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR557

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR557

Receptor tyrosine kinase Ror2 mediates Wnt5a-induced polarized cell migration by activating c-Jun N-terminal kinase via actin-binding protein filamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR557

Cardiac malformations and midline skeletal defects in mice lacking filamin A.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR557

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR557

Subependymal nodular heterotopia in patients with encephalocele

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22121117

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDR557

1 reference

1 reference

1 reference

PubMed publication ID

22121117

1 reference