(Q24337819)

MKS transition zone complex subunit 1

1 reference

Transmembrane protein 67

1 reference

MKS transition zone complex subunit 1

1 reference

author

Nicholas Katsanis

9

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Jose Badano

Jose L Badano

6

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Tania Attié-Bitach

Tania Attie-Bitach

10

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Andrew Copp

Andrew J Copp

12

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Phillip Cox

Phillip Cox

5

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Dianne Gerrelli

4

Dianne Gerrelli

0 references

Keith Gull

14

Keith Gull

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Deirdre Kelly

13

Deirdre A Kelly

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author name string

Helen R Dawe

1

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Ursula M Smith

2

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Andrew R Cullinane

3

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Sarah Blair-Reid

7

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Nisha Sriram

8

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Simon C Afford

11

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Colin A Johnson

The Meckel syndrome: clinicopathological findings in 67 patients

15

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language of work or name

English

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publication date

15 January 2007

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published in

Human Molecular Genetics

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volume

16

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issue

2

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page(s)

173-86

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The locus for Meckel syndrome with multiple congenital anomalies maps to chromosome 17q21-q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The Ciliopathies: An Emerging Class of Human Genetic Disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Genetic heterogeneity of Meckel syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

A gene for Meckel syndrome maps to chromosome 11q13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

A novel locus for Meckel-Gruber syndrome, MKS3, maps to chromosome 8q24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Development of multiorgan pathology in the wpk rat model of polycystic kidney disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

WNT and beta-catenin signalling: diseases and therapies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Frizzled signalling and cell polarisation in Drosophila and vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Analysis of xbx genes in C. elegans

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Cell fusion-induced mouse neuroblastomas HPRT revertants with variant enzyme and elevated HPRT protein levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Chlamydomonas IFT88 and its mouse homologue, polycystic kidney disease gene tg737, are required for assembly of cilia and flagella

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Functional analysis of tight junctions

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Epithelial polarity and tubulogenesis in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Cilia and centrosomes: a unifying pathogenic concept for cystic kidney disease?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The oligogenic properties of Bardet-Biedl syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The centrosome in human genetic disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Evolution and development of the vertebrate skull: The role of pattern formation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Linkage analysis in families with Joubert syndrome plus oculo-renal involvement identifies the CORS2 locus on chromosome 11p12-q13.3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

A Di-Acidic Signal Required for Selective Export from the Endoplasmic Reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The Frizzled CRD domain is conserved in diverse proteins including several receptor tyrosine kinases

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

A new member of the frizzled family from Drosophila functions as a Wingless receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Wnt signaling: a common theme in animal development

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

In vitro effects of benzodiazepines on ciliogenesis in the quail oviduct

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Cytochalasin D inhibits basal body migration and ciliary elongation in quail oviduct epithelium

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Myosin at the apical pole of ciliated epithelial cells as revealed by a monoclonal antibody

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Development and functions of the cytoskeleton during ciliogenesis in metazoa

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Centrosome positioning in interphase cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The Rho-associated protein kinase p160ROCK is required for centrosome positioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Drosophila Rho-associated kinase (Drok) links Frizzled-mediated planar cell polarity signaling to the actin cytoskeleton.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

FOXP2 expression during brain development coincides with adult sites of pathology in a severe speech and language disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

The cell division cycle of Trypanosoma brucei brucei: timing of event markers and cytoskeletal modulations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Integrin-linked kinase mediates bone morphogenetic protein 7-dependent renal epithelial cell morphogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly"

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

7 January 2021

Removal of multiple arginine-framed trafficking signals overcomes misprocessing of delta F508 CFTR present in most patients with cystic fibrosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

7 January 2021

Etiologic Heterogeneity of Neural-Tube Defects

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

7 January 2021

CD40 activation-induced, Fas-dependent apoptosis and NF-kappaB/AP-1 signaling in human intrahepatic biliary epithelial cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDL459

7 January 2021