Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies (Q34054602)

30 July 2017

title

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies (English)

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Enza Maria Valente

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Soumaya Mougou-Zerelli

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Soumaya Mougou-Zerelli

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Annalisa Mazzotta

Annalisa Mazzotta

4

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Lorena Travaglini

Lorena Travaglini

7

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Tania Attié-Bitach

Tania Attie-Bitach

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Eugen Boltshauser

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Eugen Boltshauser

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Joseph G Gleeson

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Chiara Pantaleoni

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ORCID Public Data File 2021

Sophie Thomas

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Sophie Thomas

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Dominika Swistun

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Miriam Iannicelli

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Nadia Elkhartoufi

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International JSRD Study Group

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International JSRD Study Group

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Francesco Brancati

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Soumaya Mougou-Zerelli

3

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Céline Gomes

8

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Gian Luigi Ardissino

9

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Pierangela Castorina

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Stefano D'Arrigo

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Rita Fischetto

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Brigitte Leroy

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Philippe Loget

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Maryse Bonnière

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Lena Starck

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Julia Tantau

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Barbara Gentilin

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Silvia Majore

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Elizabeth Flori

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Faustina Lalatta

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Johannes Penzien

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Paola Grammatico

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30 July 2017

publication date

1 May 2010

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30 July 2017

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volume

31

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issue

5

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30 July 2017

page(s)

E1319-31

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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)

30 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

The primary cilium as a cellular signaling center: lessons from disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Mutation spectrum of Meckel syndrome genes: one group of syndromes or several distinct groups?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

The vertebrate primary cilium in development, homeostasis, and disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Ciliary dysfunction in developmental abnormalities and diseases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

The cell biological basis of ciliary disease

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Genotypes and phenotypes of Joubert syndrome and related disorders

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Molecular diagnostics of Meckel-Gruber syndrome highlights phenotypic differences between MKS1 and MKS3.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

The Meckel syndrome: clinicopathological findings in 67 patients

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Congenital diseases of intrahepatic bile ducts: variations on the theme "ductal plate malformation"

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Ciliary and centrosomal defects associated with mutation and depletion of the Meckel syndrome genes MKS1 and MKS3

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

High-resolution DNA melting analysis: advancements and limitations

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

A mouse model for Meckel syndrome type 3.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Nephronophthisis-associated ciliopathies

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2918781

Lack of cilia and differentiation defects in the liver of human foetuses with the Meckel syndrome

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20232449

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.21239

1 reference

release_cj43xgocebhmlewevuowyzt2mq

30 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/cj43xgocebhmlewevuowyzt2mq

mapped directly with Wikidata item

24 November 2022

based on heuristic

PMC publication ID

2918781

1 reference

30 July 2017

1 reference