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

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English	Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE	scientific journal article

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scholarly article

1 reference

PubMed publication ID

3 January 2017

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

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PubMed publication ID

3 January 2017

autism spectrum disorder

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Trimethyllysine hydroxylase, epsilon

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GOA release 2020-03-11

trimethyllysine dioxygenase activity

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GOA release 2020-03-11

Thomas Bourgeron

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T. Bourgeron

25

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Richard Delorme

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R. Delorme

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Christopher Gillberg

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object named as

C. Gillberg

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3 January 2017

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M. Leboyer

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3 January 2017

author name string

C. Nava

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F. Lamari

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D. Héron

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C. Mignot

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A. Rastetter

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B. Keren

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D. Cohen

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A. Faudet

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D. Bouteiller

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M. Gilleron

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A. Jacquette

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S. Whalen

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A. Afenjar

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D. Périsse

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C. Laurent

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C. Dupuits

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C. Gautier

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M. Gérard

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G. Huguet

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S. Caillet

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B. Leheup

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A. Brice

26

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C. Depienne

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3 January 2017

publication date

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

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

SHANK1 Deletions in Males with Autism Spectrum Disorder

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

Genetics of autistic disorders: review and clinical implications

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

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

1 reference

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

20 March 2017

Genetic heterogeneity in human disease

1 reference

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

20 March 2017

Autism-associated familial microdeletion of Xp11.22

1 reference

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

20 March 2017

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

2 references

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

20 March 2017

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

6 April 2017

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

1 reference

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

6 April 2017

Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

1 reference

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

6 April 2017

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

1 reference

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

6 April 2017

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

1 reference

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

7 April 2017

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

1 reference

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

7 April 2017

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

1 reference

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

7 April 2017

A synaptic trek to autism

1 reference

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

7 April 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

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

29 September 2017

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

1 reference

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

29 September 2017

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

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

29 September 2017

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

1 reference

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

29 September 2017

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

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

29 September 2017

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

1 reference

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

29 September 2017

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

1 reference

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

29 September 2017

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

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29 September 2017

Acylcarnitines: role in brain.

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29 September 2017

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

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29 September 2017

Serotonin mediates behavioral gregarization underlying swarm formation in desert locusts

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29 September 2017

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

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29 September 2017

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

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29 September 2017

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

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29 September 2017

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

1 reference

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

29 September 2017

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

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29 September 2017

High expression of the mammalian X chromosome in brain

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29 September 2017

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

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29 September 2017

X linked mental retardation: a clinical guide

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29 September 2017

Relative carnitine deficiency in autism

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29 September 2017

Carnitine: transport and physiological functions in the brain.

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29 September 2017

Role of carnitine esters in brain neuropathology

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29 September 2017

Carnitine biosynthesis in mammals

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29 September 2017

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

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29 September 2017

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

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2 June 2018

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

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21 January 2018

PHF8 is a histone H3K9me2 demethylase regulating rRNA synthesis.

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21 January 2018

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

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21 January 2018

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

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10.1038/TP.2012.102

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