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Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome

The FEBS journal, 2022-12, Vol.289 (24), p.7776-7787

2022

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The histone demethylase PHF8 regulates astrocyte differentiation and function

Development (Cambridge), 2021-06, Vol.148 (12)

2021

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X‐linked intellectual disability update 2017

American journal of medical genetics. Part A, 2018-06, Vol.176 (6), p.1375-1388

2018

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BAP31: Physiological functions and roles in disease

Biochimie, 2021-07, Vol.186, p.105-129

Quistgaard, Esben M.

2021

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Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C

American journal of medical genetics. Part A, 2021-10, Vol.185 (10), p.2951-2958

2021

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A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

FEBS letters, 2020-02, Vol.594 (4), p.717-727

2020

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Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B

Journal of molecular biology, 2018-07, Vol.430 (14), p.2153-2163

2018

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DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

European journal of medical genetics, 2020-03, Vol.63 (3), p.103737-103737, Article 103737

2020

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Identification of novel PCTAIRE-1/CDK16 substrates using a chemical genetic screen

Cellular signalling, 2019-07, Vol.59, p.53-61

2019

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O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

The Journal of biological chemistry, 2018-07, Vol.293 (27), p.10810-10824

2018

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O -GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability

Frontiers in genetics, 2020-11, Vol.11, p.605263

2020

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Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

American journal of medical genetics. Part C, Seminars in medical genetics, 2013-05, Vol.163C (2), p.92-105

2013

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X-linked intellectual disability: Unique vulnerability of the male genome

Developmental disabilities research reviews, 2009, Vol.15 (4), p.361-368

2009

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A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

Gene reports, 2022-06, Vol.27, p.101590, Article 101590

2022

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Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein

Journal of genetics, 2024-03, Vol.103 (1), Article 14

2024

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Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects

Cell reports (Cambridge), 2021-07, Vol.36 (2), p.109337-109337, Article 109337

2021

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Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability

Neurogenetics, 2022-07, Vol.23 (3), p.179-185

2022

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Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

American journal of medical genetics. Part A, 2021-08, Vol.185 (8), p.2546-2560

2021

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Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

BMC medical genomics, 2023-10, Vol.16 (1), p.1-239, Article 239

2023

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Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Gene, 2017-03, Vol.605, p.92-98

2017

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Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors

Neuroscience research, 2017-03, Vol.116, p.54-59

Um, Ji Won

2017

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PHF6 Interacts with the Nucleosome Remodeling and Deacetylation (NuRD) Complex

Journal of proteome research, 2012-08, Vol.11 (8), p.4326-4337

2012

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Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation

The Journal of biological chemistry, 2016-04, Vol.291 (17), p.9105-9118

2016

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Molecular and cellular events linking variants in the histone demethylase KDM5C to the intellectual disability disorder Claes‐Jensen syndrome

The histone demethylase PHF8 regulates astrocyte differentiation and function

X‐linked intellectual disability update 2017

BAP31: Physiological functions and roles in disease

Caregiver‐reported characteristics of children diagnosed with pathogenic variants in KDM5C

A missense mutation in the catalytic domain of O‐GlcNAc transferase links perturbations in protein O‐GlcNAcylation to X‐linked intellectual disability

Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B

DNA methylation fingerprint of monozygotic twins and their singleton sibling with intellectual disability carrying a novel KDM5C mutation

Identification of novel PCTAIRE-1/CDK16 substrates using a chemical genetic screen

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

EIF2S3 Mutations Associated with Severe X‐Linked Intellectual Disability Syndrome MEHMO

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

O -GlcNAc: Regulator of Signaling and Epigenetics Linked to X-linked Intellectual Disability

Phenotypic Spectrum of Simpson-Golabi-Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

X-linked intellectual disability: Unique vulnerability of the male genome

A novel partial duplication in OPHN1, associated with vermis cerebellar hypoplasia, seizures and developmental delay

Genetic analysis of a child with severe intellectual disability caused by a novel variant in the FERM domain of the FRMPD4 protein

Deletion of RBMX RGG/RG motif in Shashi-XLID syndrome leads to aberrant p53 activation and neuronal differentiation defects

Identification of a 5 bp duplicate in the AP1S2 gene of an individual with X-linked intellectual disability

Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature

Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature

Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability

Synaptic functions of the IQSEC family of ADP-ribosylation factor guanine nucleotide exchange factors

PHF6 Interacts with the Nucleosome Remodeling and Deacetylation (NuRD) Complex

Subunit-selective N-Methyl-d-aspartate (NMDA) Receptor Signaling through Brefeldin A-resistant Arf Guanine Nucleotide Exchange Factors BRAG1 and BRAG2 during Synapse Maturation

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