The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat. (Q34485086)

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15 January 2020

title

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

1 reference

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15 January 2020

main subject

transmembrane protein

0 references

author

Neil V Morgan

7

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15 January 2020

Paul Gissen

9

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15 January 2020

Richard C Trembath

24

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15 January 2020

Tania Attié-Bitach

26

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15 January 2020

Eamonn R Maher

28

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15 January 2020

18

C Geoffrey Woods

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15 January 2020

27

Deirdre A Kelly

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15 January 2020

author name string

Ursula M Smith

1

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15 January 2020

Mark Consugar

2

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15 January 2020

Louise J Tee

3

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15 January 2020

Brandy M McKee

4

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15 January 2020

Esther N Maina

5

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15 January 2020

Shelly Whelan

6

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15 January 2020

Erin Goranson

8

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15 January 2020

Stacie Lilliquist

10

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15 January 2020

Irene A Aligianis

11

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15 January 2020

Christopher J Ward

12

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15 January 2020

Shanaz Pasha

13

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15 January 2020

Rachaneekorn Punyashthiti

14

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15 January 2020

Saghira Malik Sharif

15

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15 January 2020

Philip A Batman

16

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15 January 2020

Christopher P Bennett

17

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15 January 2020

Carole McKeown

19

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15 January 2020

Martine Bucourt

20

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15 January 2020

Caroline A Miller

21

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15 January 2020

Phillip Cox

22

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15 January 2020

Lihadh Algazali

23

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15 January 2020

Vicente E Torres

25

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15 January 2020

Vincent H Gattone

29

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15 January 2020

Peter C Harris

30

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15 January 2020

Colin A Johnson

31

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15 January 2020

language of work or name

English

0 references

publication date

15 January 2006

1 reference

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15 January 2020

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15 January 2020

volume

38

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15 January 2020

issue

2

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15 January 2020

page(s)

191-196

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15 January 2020

1 reference

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

21 January 2018

1 reference

A gene for Meckel syndrome maps to chromosome 11q13.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

The Meckel syndrome: clinicopathological findings in 67 patients

21 January 2018

1 reference

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

21 January 2018

1 reference

Wnt signaling: a common theme in animal development

21 January 2018

1 reference

Diego and Prickle regulate Frizzled planar cell polarity signalling by competing for Dishevelled binding

21 January 2018

1 reference

Genetic evidence that Drosophila frizzled controls planar cell polarity and Armadillo signaling by a common mechanism

21 January 2018

1 reference

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

21 January 2018

1 reference

Basal body dysfunction is a likely cause of pleiotropic Bardet-Biedl syndrome

21 January 2018

1 reference

Lifting the lid on Pandora's box: the Bardet-Biedl syndrome

21 January 2018

1 reference

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

21 January 2018

1 reference

The centrosome in human genetic disease

21 January 2018

1 reference

New insights into ciliary function: kidney cysts and photoreceptors

21 January 2018

1 reference

Comparative genomics: prediction of the ciliary and basal body proteome.

21 January 2018

1 reference

Analysis of xbx genes in C. elegans

21 January 2018

1 reference

Identification of novel VHL target genes and relationship to hypoxic response pathways

21 January 2018

1 reference

The Pfam protein families database.

21 January 2018

1 reference

SMART 4.0: towards genomic data integration

21 January 2018

1 reference

Sequence and structure-based prediction of eukaryotic protein phosphorylation sites

21 January 2018

1 reference

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

inferred from DOI database lookup

7 January 2021

based on heuristic

Haplotype analysis improves molecular diagnostics of autosomal recessive polycystic kidney disease

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG1713

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16415887%20AND%20SRC:MED&resulttype=core&format=json

release_zbmdzuj26rbhlaiqt2ibpeir5q

15 January 2020

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/zbmdzuj26rbhlaiqt2ibpeir5q

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference