Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. (Q34522233)

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10 March 2020

title

Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients (English)

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10 March 2020

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10 March 2020

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10 March 2020

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10 March 2020

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10 March 2020

Gioacchino Scarano

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10 March 2020

Bartolomeo Augello

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Maria Teresa Pellico

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Giuseppe Merla

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Rita Fischetto

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10 March 2020

Daniela Melis

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10 March 2020

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10 March 2020

publication date

9 April 2014

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10 March 2020

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10 March 2020

volume

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issue

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10 March 2020

page(s)

841-850

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Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2).

10 March 2020

cites work

1 reference

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Report of the First Clinical Case of a Moroccan Kabuki Patient with a Novel MLL2 Mutation.

7 July 2018

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Genetic syndromes caused by mutations in epigenetic genes

7 July 2018

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Haploinsufficiency of KDM6A is associated with severe psychomotor retardation, global growth restriction, seizures and cleft palate

7 July 2018

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Trans-tail regulation of MLL4-catalyzed H3K4 methylation by H4R3 symmetric dimethylation is mediated by a tandem PHD of MLL4

7 July 2018

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Unmasking Kabuki syndrome

7 July 2018

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KDM6A point mutations cause Kabuki syndrome

7 July 2018

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Predicting the functional effect of amino acid substitutions and indels

7 July 2018

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7 July 2018

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Statistical analysis of readthrough levels for nonsense mutations in mammalian cells reveals a major determinant of response to gentamicin.

7 July 2018

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TRIM8 modulates p53 activity to dictate cell cycle arrest.

7 July 2018

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Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome

7 July 2018

1 reference

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UTX, a histone H3-lysine 27 demethylase, acts as a critical switch to activate the cardiac developmental program

7 July 2018

1 reference

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How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

7 July 2018

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Functional characterization and targeted correction of ATM mutations identified in Japanese patients with ataxia-telangiectasia.

7 July 2018

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HOXC6 Is transcriptionally regulated via coordination of MLL histone methylase and estrogen receptor in an estrogen environment

7 July 2018

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Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4234006

Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients

7 July 2018

1 reference

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A mutation screen in patients with Kabuki syndrome

7 July 2018

1 reference

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MLL2 mutation spectrum in 45 patients with Kabuki syndrome

7 July 2018

1 reference

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Rescue of non-sense mutated p53 tumor suppressor gene by aminoglycosides

7 July 2018

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Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

7 July 2018

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A method and server for predicting damaging missense mutations

7 July 2018

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Mixed lineage leukemia: roles in gene expression, hormone signaling and mRNA processing.

7 July 2018

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Histone H3 lysine 4 (H3K4) methylation in development and differentiation

7 July 2018

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In vitro readthrough of termination codons by gentamycin in the Stüve-Wiedemann Syndrome

7 July 2018

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An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

7 July 2018

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

7 July 2018

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Identification of JmjC domain-containing UTX and JMJD3 as histone H3 lysine 27 demethylases

7 July 2018

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A histone H3 lysine 27 demethylase regulates animal posterior development

7 July 2018

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In vitro prediction of stop-codon suppression by intravenous gentamicin in patients with cystic fibrosis: a pilot study

7 July 2018

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Knockdown of ALR (MLL2) reveals ALR target genes and leads to alterations in cell adhesion and growth

7 July 2018

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7 July 2018

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7 July 2018

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Comprehensive statistical study of 452 BRCA1 missense substitutions with classification of eight recurrent substitutions as neutral

7 July 2018

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Cloning and expression of a brain-specific putative UDP-GalNAc: polypeptide N-acetylgalactosaminyltransferase gene

7 July 2018

1 reference

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Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.

7 July 2018

1 reference

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Active genes are tri-methylated at K4 of histone H3

7 July 2018

1 reference

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Primer3 on the WWW for general users and for biologist programmers

7 July 2018

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Improved Splice Site Detection in Genie

7 July 2018

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A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation

7 July 2018

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Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiency

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4234006

Prediction of human mRNA donor and acceptor sites from the DNA sequence

7 July 2018

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MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

7 July 2018

1 reference

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Nonsense-mediated messenger RNA decay of survival motor neuron 1 causes spinal muscular atrophy

21 January 2018

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UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity -- application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2.

21 January 2018

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EZH2 and KDM6A act as an epigenetic switch to regulate mesenchymal stem cell lineage specification.

21 January 2018

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MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22547

Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome.

21 January 2018

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Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24633898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

MLL2 and KDM6A mutations in patients with Kabuki syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24633898

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1002/HUMU.22547

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24633898%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24633898%20AND%20SRC:MED&resulttype=core&format=json

10 March 2020

PubMed publication ID

24633898

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24633898%20AND%20SRC:MED&resulttype=core&format=json