(Q28709034)

English

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

scientific article (publication date: May 2013)

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scholarly article

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Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement (English)

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inferred from title

Hulya Kayserili

29

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Andrea Superti-Furga

18

object named as

Andrea Superti-Furga

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8

object named as

Richard D Emes

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Miriam Schmidts

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Miriam Schmidts

1

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Christian Gilissen

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Christian Gilissen

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Vincent Plagnol

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Vincent Plagnol

11

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Peter J Scambler

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Peter J Scambler

30

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Anna Kutkowska-Kazmierczak

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Anna Kutkowska-Kazmierczak

19

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Joris A Veltman

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Joris A Veltman

16

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Alexander Hoischen

12

object named as

Alexander Hoischen

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Luitgard Graul-Neumann

23

object named as

Luitgard M Graul-Neumann

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ORCID Public Data File 2021

28

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Raoul C M Hennekam

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9

object named as

Jim Stalker

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Hannah M Mitchison

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Hannah M Mitchison

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Nel Roeleveld

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Ernie M H F Bongers

3

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Ernie M H F Bongers

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author name string

Heleen H Arts

2

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Zhimin Yap

4

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Machteld M Oud

5

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Dinu Antony

6

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Lonneke Duijkers

7

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Jan-Bart L Yntema

10

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Elisabeth Forsythe

14

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Ekkehart Lausch

15

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Erik-Jan Kamsteeg

20

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Nursel Elçioğlu

21

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Merel C van Maarle

22

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Koenraad Devriendt

24

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Sarah F Smithson

25

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Diana Wellesley

26

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Nienke E Verbeek

27

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Philip L Beales

31

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Nine Vam Knoers

33

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Ronald Roepman

34

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language of work or name

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publication date

May 2013

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Journal of Medical Genetics

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50

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309-23

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5

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Combined NGS approaches identify mutations in the intraflagellar transport gene IFT140 in skeletal ciliopathies with early progressive kidney Disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Insights into dynein motor domain function from a 3.3-Å crystal structure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

The 2.8 Å crystal structure of the dynein motor domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Architecture and function of IFT complex proteins in ciliogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Complex interactions between genes controlling trafficking in primary cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

C14ORF179 encoding IFT43 is mutated in Sensenbrenner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Crystal structure of the dynein motor domain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

An Ift80 mouse model of short rib polydactyly syndromes shows defects in hedgehog signalling without loss or malformation of cilia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

NEK1 mutations cause short-rib polydactyly syndrome type majewski

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Cranioectodermal Dysplasia, Sensenbrenner syndrome, is a ciliopathy caused by mutations in the IFT122 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

SnapShot: Intraflagellar transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Jeune syndrome: description of 13 cases and a proposal for follow-up protocol

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Ciliary abnormalities due to defects in the retrograde transport protein DYNC2H1 in short-rib polydactyly syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Intraflagellar transport, cilia, and mammalian Hedgehog signaling: analysis in mouse embryonic fibroblasts

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Intraflagellar transport motors in cilia: moving along the cell's antenna

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

PLINK: a tool set for whole-genome association and population-based linkage analyses

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Genetic analysis of the cytoplasmic dynein subunit families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

The SWISS-MODEL workspace: a web-based environment for protein structure homology modelling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

A dynein light intermediate chain, D1bLIC, is required for retrograde intraflagellar transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

A novel dynein light intermediate chain colocalizes with the retrograde motor for intraflagellar transport at sites of axoneme assembly in chlamydomonas and Mammalian cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Intraflagellar transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Identification of a novel light intermediate chain (D2LIC) for mammalian cytoplasmic dynein 2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Mutations in DNAH5 cause primary ciliary dyskinesia and randomization of left-right asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Cytoplasmic dynein heavy chain 1b is required for flagellar assembly in Chlamydomonas

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Distinct mutants of retrograde intraflagellar transport (IFT) share similar morphological and molecular defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

A dynein light chain is essential for the retrograde particle movement of intraflagellar transport (IFT)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

Phylogeny and expression of axonemal and cytoplasmic dynein genes in sea urchins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

17 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

7 April 2017

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Ciliary disorder of the skeleton

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Modeling human disease in humans: the ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

A role for Tctex-1 (DYNLT1) in controlling primary cilium length

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

The retrograde IFT machinery of C. elegans cilia: two IFT dynein complexes?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Ciliary transition zone activation of phosphorylated Tctex-1 controls ciliary resorption, S-phase entry and fate of neural progenitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Ciliopathies: an expanding disease spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Communication between the AAA+ ring and microtubule-binding domain of dynein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Chlamydomonas FAP133 is a dynein intermediate chain associated with the retrograde intraflagellar transport motor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Asphyxiating thoracic dystrophy with familial characteristics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

XBX-1 encodes a dynein light intermediate chain required for retrograde intraflagellar transport and cilia assembly in Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Role of a class DHC1b dynein in retrograde transport of IFT motors and IFT raft particles along cilia, but not dendrites, in chemosensory neurons of living Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

The DHC1b (DHC2) isoform of cytoplasmic dynein is required for flagellar assembly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Asphyxiating thoracic dysplasia. Clinical, radiological, and pathological information on 10 patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Retinal Involvement in Thoracic-Pelvic-Phalangeal Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

Ocular Findings in Thoracic-Pelvic-Phalangeal Dystrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

3 June 2018

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

27 November 2018

Effectiveness of sequencing selected exons of DNAH5 and DNAI1 in diagnosis of primary ciliary dyskinesia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

27 November 2018

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

27 November 2018

Mutations in DNAH5 account for only 15% of a non-preselected cohort of patients with primary ciliary dyskinesia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

27 November 2018

Distinct functions of nucleotide-binding/hydrolysis sites in the four AAA modules of cytoplasmic dynein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

27 November 2018

Dynein structure and power stroke.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3627132

27 November 2018

The Thoracic Asphyxiant Dystrophy and Renal Disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/23456818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Synergistic interaction between ciliary genes reflects the importance of mutational load in ciliopathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/23456818

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1136/JMEDGENET-2012-101284

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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