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

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scientific article

Language	Label	Description	Also known as
English	Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders	scientific article

Statements

scholarly article

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

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Cholinergic receptor nicotinic alpha 1 subunit

1 reference

GOA release 2020-03-11

Cholinergic receptor nicotinic delta subunit

1 reference

GOA release 2020-03-11

neuromuscular process

1 reference

GOA release 2020-03-11

fetal akinesia deformation sequence

1 reference

based on heuristic

inferred from title

20

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Sigmar Stricker

2

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Dagmar Wieczorek

13

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21

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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

22

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language of work or name

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publication date

February 2008

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American Journal of Human Genetics

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82

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2

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464-76

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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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19 March 2017

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

1 reference

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

19 March 2017

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

1 reference

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

19 March 2017

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

1 reference

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

19 March 2017

Clinical features of the DOK7 neuromuscular junction synaptopathy

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19 March 2017

Impaired receptor clustering in congenital myasthenic syndrome with novel RAPSN mutations

1 reference

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19 March 2017

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

1 reference

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19 March 2017

A somitic compartment of tendon progenitors

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19 March 2017

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

2 references

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6 April 2017

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

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Induction, assembly, maturation and maintenance of a postsynaptic apparatus

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19 March 2017

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

1 reference

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

19 March 2017

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

1 reference

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

19 March 2017

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

1 reference

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19 March 2017

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

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

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

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

Two endothelial cell lines derived from the somite.

1 reference

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27 September 2017

Fetal arthrogryposis and maternal serum antibodies

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

Dok-7 mutations underlie a neuromuscular junction synaptopathy

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

Development of the neuromuscular junction

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

Current understanding of congenital myasthenic syndromes

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

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

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

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

1 reference

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27 September 2017

Congenital myasthenic syndromes: genetic defects of the neuromuscular junction

1 reference

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27 September 2017

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

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27 September 2017

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27 September 2017

Analysis of Pena Shokeir phenotype

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27 September 2017

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

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30 May 2018

Differential Expression Patterns of Five Acetylcholine Receptor Subunit Genes in Rat Muscle During Development

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30 May 2018

Pathogenesis of the lethal multiple pterygium syndrome

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30 May 2018

Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes

1 reference

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

29 November 2018

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

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

29 November 2018

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

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29 November 2018

The lethal multiple pterygium syndromes

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29 November 2018

The lymphatic endothelium of the avian wing is of somitic origin

1 reference

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12 December 2020

based on heuristic

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/18252226

12 December 2020

based on heuristic

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

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https://pubmed.ncbi.nlm.nih.gov/18252226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital myasthenic syndromes: gene mutations

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https://pubmed.ncbi.nlm.nih.gov/18252226

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Development of the neuromuscular junction: genetic analysis in mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/18252226

12 December 2020

based on heuristic

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Experimental clubfoot and arthrogryposis multiplex congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/18252226

12 December 2020

based on heuristic

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Dual origin of avian lymphatics

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https://pubmed.ncbi.nlm.nih.gov/18252226

12 December 2020

based on heuristic

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Identifiers

10.1016/J.AJHG.2007.11.006

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OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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