Disruption of a ciliary B9 protein complex causes Meckel syndrome (Q28114969)

3 January 2017

title

Disruption of a ciliary B9 protein complex causes Meckel syndrome (English)

1 reference

MKS transition zone complex subunit 1

3 January 2017

1 reference

GOA release 2020-03-11

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GOA release 2020-03-11

B9 protein domain 1

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GOA release 2020-03-11

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14

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Klaus Zerres

12

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Nicholas Katsanis

object named as

Nicholas Katsanis

17

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José M García-Verdugo

object named as

José Manuel García-Verdugo

16

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author name string

William E. Dowdle

1

1 reference

3 January 2017

Jon F. Robinson

2

1 reference

3 January 2017

Andreas Kneist

3

1 reference

3 January 2017

M. Salomé Sirerol-Piquer

4

1 reference

3 January 2017

Suzanna G. M. Frints

5

1 reference

3 January 2017

Kevin C. Corbit

6

1 reference

3 January 2017

Norann A. Zaghloul

7

1 reference

3 January 2017

Norran A. Zaghloul

8

1 reference

3 January 2017

Gesina van Lijnschoten

9

1 reference

3 January 2017

Leon Mulders

10

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3 January 2017

Dideke E. Verver

11

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3 January 2017

Randall R. Reed

13

1 reference

3 January 2017

Colin A. Johnson

15

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3 January 2017

Carsten Bergmann

18

1 reference

3 January 2017

Jeremy F. Reiter

19

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3 January 2017

language of work or name

English

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publication date

15 July 2011

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American Journal of Human Genetics

3 January 2017

published in

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3 January 2017

volume

89

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3 January 2017

issue

1

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3 January 2017

page(s)

94–110

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

3 January 2017

cites work

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Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle

20 March 2017

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20 March 2017

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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

20 March 2017

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Functional interactions between the ciliopathy-associated Meckel syndrome 1 (MKS1) protein and two novel MKS1-related (MKSR) proteins

20 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

20 March 2017

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Homozygosity mapping with SNP arrays identifies TRIM32, an E3 ubiquitin ligase, as a Bardet-Biedl syndrome gene (BBS11)

20 March 2017

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Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

20 March 2017

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

20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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

20 March 2017

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20 March 2017

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The ion channel polycystin-2 is required for left-right axis determination in mice

20 March 2017

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The SIL gene is required for mouse embryonic axial development and left-right specification

20 March 2017

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Left-right asymmetry and kinesin superfamily protein KIF3A: new insights in determination of laterality and mesoderm induction by kif3A-/- mice analysis

20 March 2017

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

20 March 2017

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The graded response to Sonic Hedgehog depends on cilia architecture

20 March 2017

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20 March 2017

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Loss of the retrograde motor for IFT disrupts localization of Smo to cilia and prevents the expression of both activator and repressor functions of Gli

20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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20 March 2017

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7 April 2017

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7 April 2017

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7 April 2017

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B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis

7 April 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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

29 September 2017

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Floor plate and motor neuron induction by different concentrations of the amino-terminal cleavage product of sonic hedgehog autoproteolysis

29 September 2017

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Lectin binding to formalin-fixed paraffin sections

29 September 2017

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29 September 2017

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2 June 2018

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2 June 2018

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A TCTN2 mutation defines a novel Meckel Gruber syndrome locus

2 June 2018

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Pkd1l1 complexes with Pkd2 on motile cilia and functions to establish the left-right axis

27 November 2018

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Mutations of theCEP290gene encoding a centrosomal protein cause Meckel-Gruber syndrome

27 November 2018

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27 November 2018

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Foxj1 regulates asymmetric gene expression during left-right axis patterning in mice.

27 November 2018

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Identification of ICIS-1, a new protein involved in cilia stability

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https://pubmed.ncbi.nlm.nih.gov/21763481

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2011.06.003

1 reference

1 reference

1 reference

1 reference