(Q41281131)

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Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)

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Europe PubMed Central

PMC publication ID

29 September 2017

Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH) (English)

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Europe PubMed Central

PMC publication ID

29 September 2017

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cerebellar hypoplasia

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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

1 reference

based on heuristic

inferred from title

1

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783747%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

Jun-ichi Takanashi

7

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8 June 2020

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Daniela Tiaki Uehara

2

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8 June 2020

Kousuke Tanimoto

3

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8 June 2020

Seiji Mizuno

4

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8 June 2020

Yasutsugu Chinen

5

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8 June 2020

Shinobu Fukumura

6

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8 June 2020

Hitoshi Osaka

8

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8 June 2020

Nobuhiko Okamoto

9

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8 June 2020

Johji Inazawa

10

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8 June 2020

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7 August 2017

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29 September 2017

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Europe PubMed Central

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8 June 2020

12

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8 June 2020

8

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8 June 2020

e0181791

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8 June 2020

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Creative Commons Attribution 4.0 International

7 August 2017

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0 references

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

1 reference

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1 October 2017

Disorders of Microtubule Function in Neurons: Imaging Correlates

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1 October 2017

Clinical and molecular characterization of a patient with interstitial 6q21q22.1 deletion

1 reference

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1 October 2017

Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy

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1 October 2017

Phenotypic and molecular insights into CASK-related disorders in males

1 reference

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1 October 2017

Identification and glycerol-induced correction of misfolding mutations in the X-linked mental retardation gene CASK

1 reference

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1 October 2017

Digenic inheritance in medical genetics

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1 October 2017

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

1 reference

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1 October 2017

Evolution of the eukaryotic dynactin complex, the activator of cytoplasmic dynein

1 reference

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1 October 2017

Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Neuroradiologic features of CASK mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Structural variation in the human genome and its role in disease

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1 October 2017

Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

HDAC2 negatively regulates memory formation and synaptic plasticity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Histone deacetylases 1 and 2 control the progression of neural precursors to neurons during brain development

1 reference

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1 October 2017

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

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1 October 2017

A missense mutation in CASK causes FG syndrome in an Italian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Deletion of CASK in mice is lethal and impairs synaptic function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

The role of the MAGUK protein CASK in neural development and synaptic function.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Mapping and expression analysis of the human CASK gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Reelin controls position of autonomic neurons in the spinal cord

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Nuclear translocation and transcription regulation by the membrane-associated guanylate kinase CASK/LIN-2

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Reelin is a ligand for lipoprotein receptors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

SAP30, a novel protein conserved between human and yeast, is a component of a histone deacetylase complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

Localization of the DCTN1 gene encoding p150Glued to human chromosome 2p13 by fluorescence in situ hybridization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

MARCKS deficiency in mice leads to abnormal brain development and perinatal death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

1 October 2017

CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

14 June 2018

Phenotypic spectrum associated with CASK loss-of-function mutations

1 reference

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14 June 2018

Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

14 June 2018

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

14 June 2018

Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases

1 reference

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19 August 2018

The CASK gene harbored in a deletion detected by array-CGH as a potential candidate for a gene causative of X-linked dominant mental retardation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

19 August 2018

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes.

1 reference

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19 August 2018

Identification of a novel recessive RELN mutation using a homozygous balanced reciprocal translocation.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

19 August 2018

Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

19 August 2018

Characterization of a Heparan Sulfate 3-O-Sulfotransferase-5, an Enzyme Synthesizing a Tetrasulfated Disaccharide

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

19 August 2018

Molecular cloning of the retrograde transport motor cytoplasmic dynein (MAP 1C)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5546575

19 August 2018

Clinical and radiological features of Japanese patients with a severe phenotype due to CASK mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/28783747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Affinity chromatography demonstrates a direct binding between cytoplasmic dynein and the dynactin complex

1 reference

https://pubmed.ncbi.nlm.nih.gov/28783747

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PONE.0181791

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783747%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783747%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28783747%20AND%20SRC:MED&resulttype=core&format=json

8 June 2020

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