De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations (Q36559231)

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scientific article published on 27 January 2016

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English	De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations	scientific article published on 27 January 2016

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scholarly article

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14 August 2017

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations (English)

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congenital disorder

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Stephen A Wood

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Christian Gilissen

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Christian Gilissen

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Ann Nordgren

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Han G Brunner

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Hermine E Veenstra-Knol

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Hermine E Veenstra-Knol

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Conny M A van Ravenswaaij-Arts

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Margot R F Reijnders

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Margot R F Reijnders

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Grazia M S Mancini

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Grazia M Mancini

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Maaike Vreeburg

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Maaike Vreeburg

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Sau Wai Cheung

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Carlo L Marcelis

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Carlo M Marcelis

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Zornitza Stark

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Vasilios Zachariadis

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Brooke Latour

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Lachlan Jolly

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Ka Man Wu

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Britt-Marie M Anderlid

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Angela Barnicoat

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Frank Probst

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Pilar Magoulas

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Alice S Brooks

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Helena Malmgren

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Arja Harila-Saari

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Emma Hobson

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V Reid Sutton

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Julie Vogt

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Nicola Cooper

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Jiin Ying Lim

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Sue Price

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Angeline Hwei Meeng Lai

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Deepti Domingo

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Bruno Reversade

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DDD Study

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Ronald Roepman

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publication date

27 January 2016

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American Journal of Human Genetics

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98

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2

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373-381

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14 August 2017

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

La FAM fatale: USP9X in development and disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

1 reference

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30 September 2017

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

1 reference

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30 September 2017

Landscape of DNA methylation on the X chromosome reflects CpG density, functional chromatin state and X-chromosome inactivation

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The contribution of de novo coding mutations to autism spectrum disorder

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30 September 2017

Variable escape from X-chromosome inactivation: identifying factors that tip the scales towards expression

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30 September 2017

X chromosome regulation: diverse patterns in development, tissues and disease

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30 September 2017

Massively parallel sequencing of patients with intellectual disability, congenital anomalies and/or autism spectrum disorders with a targeted gene panel

1 reference

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30 September 2017

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth

1 reference

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Identification of prognostic relevant chromosomal abnormalities in chronic lymphocytic leukemia using microarray-based genomic profiling

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30 September 2017

Clinical significance of de novo and inherited copy-number variation

1 reference

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30 September 2017

XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing

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30 September 2017

Loss of Usp9x disrupts cortical architecture, hippocampal development and TGFβ-mediated axonogenesis

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing

1 reference

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30 September 2017

Deubiquitinase FAM/USP9X interacts with the E3 ubiquitin ligase SMURF1 protein and protects it from ligase activity-dependent self-degradation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

The role of UBL domains in ubiquitin-specific proteases

1 reference

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30 September 2017

Ubiquitin-specific peptidase 9, X-linked (USP9X) modulates activity of mammalian target of rapamycin (mTOR).

1 reference

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30 September 2017

Fragile X and X-linked intellectual disability: four decades of discovery

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Spectrum of clinical diseases caused by disorders of primary cilia

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30 September 2017

Genes that escape from X inactivation

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30 September 2017

X-chromosome inactivation: molecular mechanisms from the human perspective

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An atlas of altered expression of deubiquitinating enzymes in human cancer

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30 September 2017

Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability

1 reference

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30 September 2017

Deubiquitinase USP9X stabilizes MCL1 and promotes tumour cell survival

1 reference

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30 September 2017

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

1 reference

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30 September 2017

USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors

1 reference

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30 September 2017

FAM/USP9x, a deubiquitinating enzyme essential for TGFbeta signaling, controls Smad4 monoubiquitination

1 reference

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30 September 2017

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders

1 reference

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30 September 2017

Control of AMPK-related kinases by USP9X and atypical Lys(29)/Lys(33)-linked polyubiquitin chains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

The ubiquitin ligase itch is auto-ubiquitylated in vivo and in vitro but is protected from degradation by interacting with the deubiquitylating enzyme FAM/USP9X

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4746365

30 September 2017

X-inactivation profile reveals extensive variability in X-linked gene expression in females

1 reference

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The FAM deubiquitylating enzyme localizes to multiple points of protein trafficking in epithelia, where it associates with E-cadherin and beta-catenin

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The Ras target AF-6 is a substrate of the fam deubiquitinating enzyme

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The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2

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Diagnostic exome sequencing in persons with severe intellectual disability

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X chromosome gene expression in human tissues: male and female comparisons

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4 December 2018

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10.1016/J.AJHG.2015.12.015

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Europe PubMed Central

PMC publication ID

14 August 2017

PMC publication ID

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Europe PubMed Central

PMC publication ID

14 August 2017

PubMed publication ID

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Europe PubMed Central

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14 August 2017

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