(Q24339372)

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

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scholarly article

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ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity (English)

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Zinc finger C4H2-type containing

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GOA release 2020-03-11

Zinc finger, C4H2 domain containing

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GOA release 2020-03-11

synaptic plasticity

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based on heuristic

inferred from title

intellectual disability

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based on heuristic

inferred from title

disability affecting intellectual abilities

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based on heuristic

inferred from title

Hans-Hilger Ropers

40

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41

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Frédéric Laumonnier

43

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29

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Sabine Preisler-Adams

13

object named as

Sabine Preisler-Adams

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37

object named as

Raoul Hennekam

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object named as

Lam Son Nguyen

22

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object named as

Dominik Seelow

15

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object named as

Stefan A Haas

25

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author name string

Hiromi Hirata

1

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Indrajit Nanda

2

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Anne van Riesen

3

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Gai McMichael

4

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Hao Hu

5

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Melanie Hambrock

6

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Marie-Amélie Papon

7

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Ute Fischer

8

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Sylviane Marouillat

9

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Can Ding

10

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Servane Alirol

11

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Melanie Bienek

12

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Astrid Grimme

14

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Richard Webster

16

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Eric Haan

17

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Alastair MacLennan

18

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Werner Stenzel

19

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Tzu Ying Yap

20

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Alison Gardner

21

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Marie Shaw

23

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Nicolas Lebrun

24

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Wolfram Kress

26

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Thomas Haaf

27

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Elke Schellenberger

28

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Géraldine Viot

30

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Lisa G Shaffer

31

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Jill A Rosenfeld

32

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Nancy Kramer

33

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Rena Falk

34

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Dima El-Khechen

35

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Luis F Escobar

36

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Peter Wieacker

38

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Christoph Hübner

39

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Markus Schuelke

42

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Vera M Kalscheuer

44

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language of work or name

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publication date

2 May 2013

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American Journal of Human Genetics

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92

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681-95

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5

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Arthrogryposis: a review and update

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

19 March 2017

Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

19 March 2017

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

19 March 2017

Development of the vertebrate neuromuscular junction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

19 March 2017

Parametric and nonparametric linkage analysis: a unified multipoint approach

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

19 March 2017

MutationTaster evaluates disease-causing potential of sequence alterations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

7 April 2017

Mutations in ECEL1 cause distal arthrogryposis type 5D

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Myosinopathies: pathology and mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Getting neural circuits into shape with semaphorins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Arthrogryposis multiplexa congenita: an epidemiologic study of nearly 9 million births in 24 EUROCAT registers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

A computational approach to candidate gene prioritization for X-linked mental retardation using annotation-based binary filtering and motif-based linear discriminatory analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Duplicated gephyrin genes showing distinct tissue distribution and alternative splicing patterns mediate molybdenum cofactor biosynthesis, glycine receptor clustering, and escape behavior in zebrafish

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Genetics of early onset cognitive impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

GeneDistiller--distilling candidate genes from linkage intervals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

A family with severe X-linked arthrogryposis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

27 September 2017

Paternally inherited microdeletion at 15q11.2 confirms a significant role for the SNORD116 C/D box snoRNA cluster in Prader-Willi syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

30 May 2018

Calcitonin receptor-like receptor and receptor activity modifying protein 1 in the rat dorsal horn: localization in glutamatergic presynaptic terminals containing opioids and adrenergic alpha2C receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

30 May 2018

X chromosome inactivation patterns in brain in Rett syndrome: implications for the disease phenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

30 May 2018

Close linkage of the Wieacker-Wolff syndrome to the DNA segment DXYS1 in proximal Xq.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

30 May 2018

Diagnostic exome sequencing in persons with severe intellectual disability

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

Osteopathia striata congenita with cranial sclerosis and intellectual disability due to contiguous gene deletions involving the WTX locus.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

LIN-39 and the EGFR/RAS/MAPK pathway regulate C. elegans vulval morphogenesis via the VAB-23 zinc finger protein.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

The conserved zinc finger protein VAB-23 is an essential regulator of epidermal morphogenesis in Caenorhabditis elegans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

Muscle and tendon size relationships in a paralyzed chick embryo model of clubfoot.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

Three distinct types of X-linked arthrogryposis seen in 6 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

A new X-linked syndrome with muscle atrophy, congenital contractures, and oculomotor apraxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3644645

29 November 2018

Endplate destruction due to maternal antibodies in arthrogryposis multiplex congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/23623388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Myotonic dystrophy in pregnancy. Prenatal, neonatal and maternal considerations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23623388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic disorders caused by mutated acetylcholine receptors

1 reference

https://pubmed.ncbi.nlm.nih.gov/23623388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Localization of the gene for Wieacker-Wolff syndrome in the pericentromeric region of the X chromosome

1 reference

https://pubmed.ncbi.nlm.nih.gov/23623388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita

1 reference

https://pubmed.ncbi.nlm.nih.gov/23623388

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three distinct types of X-linked arthrogryposis seen in 6 families

1 reference

https://api.crossref.org/works/10.1016%2FJ.AJHG.2013.03.021

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1016/J.AJHG.2013.03.021

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