Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders (Q24310729)

Cholinergic receptor nicotinic delta subunit

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

neuromuscular process

1 reference

fetal akinesia deformation sequence

GOA release 2020-03-11

1 reference

20

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Sigmar Stricker

2

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Dagmar Wieczorek

13

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Raoul Heller

21

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Dominik Seelow

object named as

Dominik Seelow

12

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Nausheen Yaqoob

10

object named as

Nausheen Yaqoob

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author name string

Anne Michalk

1

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Jutta Becker

3

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Rosemarie Rupps

4

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Tapio Pantzar

5

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Jan Miertus

6

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Giovanni Botta

7

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Valeria G Naretto

8

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Catrin Janetzki

9

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Claus-Eric Ott

11

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Britta Fiebig

14

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Brunhilde Wirth

15

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Markus Hoopmann

16

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Marisa Walther

17

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Friederike Körber

18

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Markus Blankenburg

19

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Katrin Hoffmann

American Journal of Human Genetics

22

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language of work or name

English

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publication date

February 2008

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published in

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volume

82

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page(s)

464-76

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issue

2

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cites work

Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome

1 reference

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Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit

19 March 2017

1 reference

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Rapsyn mutations in humans cause endplate acetylcholine-receptor deficiency and myasthenic syndrome

19 March 2017

1 reference

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Acetylcholine receptor delta subunit mutations underlie a fast-channel myasthenic syndrome and arthrogryposis multiplex congenita

19 March 2017

1 reference

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Clinical features of the DOK7 neuromuscular junction synaptopathy

19 March 2017

1 reference

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Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

19 March 2017

1 reference

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Aberrant motor axon projection, acetylcholine receptor clustering, and neurotransmission in cyclin-dependent kinase 5 null mice

19 March 2017

1 reference

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A somitic compartment of tendon progenitors

19 March 2017

1 reference

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Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)

19 March 2017

2 references

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19 March 2017

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Novel delta subunit mutation in slow-channel syndrome causes severe weakness by novel mechanisms

6 April 2017

1 reference

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Induction, assembly, maturation and maintenance of a postsynaptic apparatus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Rapsyn is required for MuSK signaling and recruits synaptic components to a MuSK-containing scaffold

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Ror2 knockout mouse as a model for the developmental pathology of autosomal recessive Robinow syndrome

19 March 2017

1 reference

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Rapsyn interaction with calpain stabilizes AChR clusters at the neuromuscular junction.

19 March 2017

1 reference

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The actin binding domain of ACF7 binds directly to the tetratricopeptide repeat domains of rapsyn

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Two endothelial cell lines derived from the somite.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Fetal arthrogryposis and maternal serum antibodies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Dok-7 mutations underlie a neuromuscular junction synaptopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Development of the neuromuscular junction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Current understanding of congenital myasthenic syndromes

27 September 2017

1 reference

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Mutation causing severe myasthenia reveals functional asymmetry of AChR signature cystine loops in agonist binding and gating.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Congenital myasthenic syndrome caused by low-expressor fast-channel AChR delta subunit mutation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Teratogen update: maternal myasthenia gravis as a cause of congenital arthrogryposis

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Analysis of Pena Shokeir phenotype

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Arthrogryposis multiplex congenita: etiology, genetics, classification, diagnostic approach, and general aspects.

27 September 2017

1 reference

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Differential expression patterns of five acetylcholine receptor subunit genes in rat muscle during development.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Pathogenesis of the lethal multiple pterygium syndrome

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

Development of innervation of skeletal muscle fibers in man: relation to acetylcholine receptors.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

The lethal multiple pterygium syndromes

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2427255

The lymphatic endothelium of the avian wing is of somitic origin

29 November 2018

1 reference

12 December 2020

Three different fates of cells migrating from somites into the limb bud

1 reference

12 December 2020

Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes

1 reference

12 December 2020

Congenital myasthenic syndromes: gene mutations

1 reference

12 December 2020

Development of the neuromuscular junction: genetic analysis in mice

1 reference

12 December 2020

Experimental clubfoot and arthrogryposis multiplex congenita

1 reference

12 December 2020

Dual origin of avian lymphatics

1 reference

12 December 2020

Arthrogryposis Multiplex Congenita

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.AJHG.2007.11.006

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.AJHG.2007.11.006

1 reference

1181365

1181365

1 reference

1 reference

1 reference