Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE (Q28115364)

trimethyllysine dioxygenase activity

GOA release 2020-03-11

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GOA release 2020-03-11

T. Bourgeron

25

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Richard Delorme

object named as

R. Delorme

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Christopher Gillberg

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Functional analysis of TMLH variants and definition of domains required for catalytic activity and mitochondrial targeting

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3 January 2017

23 October 2012

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3 January 2017

Translational Psychiatry

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3 January 2017

2

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3 January 2017

e179

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3 January 2017

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Evolutionarily conserved multisubunit RBL2/p130 and E2F4 protein complex represses human cell cycle-dependent genes in quiescence

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

SHANK1 Deletions in Males with Autism Spectrum Disorder

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Functional impact of global rare copy number variation in autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

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

20 March 2017

1 reference

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Genetics of autistic disorders: review and clinical implications

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

A novel mutation in the PHF8 gene is associated with X-linked mental retardation with cleft lip/cleft palate

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Mutations in PHF8 are associated with X linked mental retardation and cleft lip/cleft palate

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Patterns and rates of exonic de novo mutations in autism spectrum disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Genetic heterogeneity in human disease

20 March 2017

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Autism-associated familial microdeletion of Xp11.22

20 March 2017

1 reference

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Screening of mutations in the PHF8 gene and identification of a novel mutation in a Finnish family with XLMR and cleft lip/cleft palate

20 March 2017

2 references

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20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Multiple Recurrent De Novo CNVs, Including Duplications of the 7q11.23 Williams Syndrome Region, Are Strongly Associated with Autism

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing

7 April 2017

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 April 2017

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A synaptic trek to autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Epigenetic remodelling of brain, body and behaviour during phase change in locusts.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Metabolomic analysis reveals that carnitines are key regulatory metabolites in phase transition of the locusts.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Widespread regulation of miRNA biogenesis at the Dicer step by the cold-inducible RNA-binding protein, RBM3

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Recurrence risk for autism spectrum disorders: a Baby Siblings Research Consortium study

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Metabolism of acetyl-L-carnitine for energy and neurotransmitter synthesis in the immature rat brain

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Huwe1 ubiquitin ligase is essential to synchronize neuronal and glial differentiation in the developing cerebellum

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Acylcarnitines: role in brain.

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

29 September 2017

1 reference

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Serotonin mediates behavioral gregarization underlying swarm formation in desert locusts

29 September 2017

1 reference

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The HECT-domain ubiquitin ligase Huwe1 controls neural differentiation and proliferation by destabilizing the N-Myc oncoprotein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Teneurin-1 is expressed in interconnected regions of the developing brain and is processed in vivo

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

Functional characterization of the TMLH gene: promoter analysis, in situ hybridization, identification and mapping of alternative splicing variants.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data

29 September 2017

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High expression of the mammalian X chromosome in brain

29 September 2017

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Brief report: "the autism epidemic". The registered prevalence of autism in a Swedish urban area

29 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3565810

X linked mental retardation: a clinical guide

29 September 2017

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Relative carnitine deficiency in autism

29 September 2017

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Carnitine: transport and physiological functions in the brain.

29 September 2017

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Role of carnitine esters in brain neuropathology

29 September 2017

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Carnitine biosynthesis in mammals

29 September 2017

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Carnitine--a known compound, a novel function in neural cells.

29 September 2017

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The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood

29 September 2017

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Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders.

2 June 2018

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PHF8 is a histone H3K9me2 demethylase regulating rRNA synthesis.

21 January 2018

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https://api.crossref.org/works/10.1038%2FTP.2012.102

The X-linked mental retardation gene PHF8 is a histone demethylase involved in neuronal differentiation

21 January 2018

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Is autism a disorder of fatty acid metabolism? Possible dysfunction of mitochondrial beta-oxidation by long chain acyl-CoA dehydrogenase

21 January 2018

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21 January 2018

Identifiers

DOI

10.1038/TP.2012.102

1 reference

Dimensions Publication ID

1541096

1002445099

0 references

Fatcat ID

release_a5qipwli7bfzzf5mok7dyv5kqi

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/a5qipwli7bfzzf5mok7dyv5kqi

mapped directly with Wikidata item

24 November 2022

based on heuristic

1541096

1 reference

1 reference

1 reference