(Q36358451)

13 August 2017

A noncoding, regulatory mutation implicates HCFC1 in nonsyndromic intellectual disability (English)

1 reference

13 August 2017

0 references

intellectual disability

1 reference

disability affecting intellectual abilities

inferred from title

1 reference

non-syndromic intellectual disability

inferred from title

1 reference

17

1 reference

13 August 2017

19

1 reference

13 August 2017

7

Cheryl Shoubridge

0 references

Stefan Haas

object named as

Stefan A Haas

15

0 references

Lachlan A Jolly

object named as

Lachlan A Jolly

2

0 references

Saffron Willis-Owen

3

object named as

Saffron Willis-Owen

1 reference

13 August 2017

18

Mark A Corbett

1 reference

13 August 2017

4

Alison Gardner

1 reference

13 August 2017

11

Anna Hackett

1 reference

13 August 2017

8

Dagmar Wieczorek

1 reference

13 August 2017

13

Guy Froyen

1 reference

13 August 2017

16

Hans-Hilger Ropers

1 reference

13 August 2017

Lingli Huang

1

1 reference

13 August 2017

Raman Kumar

5

1 reference

13 August 2017

Evelyn Douglas

6

1 reference

13 August 2017

Andreas Tzschach

9

1 reference

13 August 2017

Monika Cohen

10

1 reference

13 August 2017

Michael Field

12

1 reference

13 August 2017

Hao Hu

14

1 reference

13 August 2017

language of work or name

English

0 references

publication date

20 September 2012

1 reference

American Journal of Human Genetics

13 August 2017

1 reference

13 August 2017

91

1 reference

13 August 2017

694-702

1 reference

13 August 2017

4

1 reference

Germline mutations in BAP1 predispose to melanocytic tumors

13 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Germline BAP1 mutations predispose to malignant mesothelioma

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Genome-wide mapping of ZNF652 promoter binding sites in breast cancer cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

PDCD2 is essential for inner cell mass development and embryonic stem cell maintenance

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The ubiquitin carboxyl hydrolase BAP1 forms a ternary complex with YY1 and HCF-1 and is a critical regulator of gene expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

PHF8 mediates histone H4 lysine 20 demethylation events involved in cell cycle progression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Ronin/Hcf-1 binds to a hyperconserved enhancer element and regulates genes involved in the growth of embryonic stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Uncovering the roles of rare variants in common disease through whole-genome sequencing

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A functional link between the histone demethylase PHF8 and the transcription factor ZNF711 in X-linked mental retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

E2F1 mediates DNA damage and apoptosis through HCF-1 and the MLL family of histone methyltransferases

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The genetic landscape of intellectual disability arising from chromosome X.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

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

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Genetics of intellectual disability

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Ronin is essential for embryogenesis and the pluripotency of mouse embryonic stem cells

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

lumi: a pipeline for processing Illumina microarray

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Identification of clustered YY1 binding sites in imprinting control regions

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Linear models and empirical bayes methods for assessing differential expression in microarray experiments

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Identification of cis-regulatory elements for MECP2 expression

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The systematic functional characterisation of Xq28 genes prioritises candidate disease genes

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A switch in mitotic histone H4 lysine 20 methylation status is linked to M phase defects upon loss of HCF-1.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The herpes simplex virus VP16-induced complex: the makings of a regulatory switch

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

DAVID: Database for Annotation, Visualization, and Integrated Discovery

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Host cell factor-1 interacts with and antagonizes transactivation by the cell cycle regulatory factor Miz-1

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

PDCD2 is a negative regulator of HCF-1 (C1)

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Databases on transcriptional regulation: TRANSFAC, TRRD and COMPEL

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The mouse homologue of the human transcription factor C1 (host cell factor). Conservation of forms and function

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A single-point mutation in HCF causes temperature-sensitive cell-cycle arrest and disrupts VP16 function.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Localisation of the MRX3 gene for non-specific X linked mental retardation

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The heterogeneous nuclear ribonucleoprotein L is an essential component in the Ca2+/calmodulin-dependent protein kinase IV-regulated alternative splicing through cytidine-adenosine repeats.

30 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

The gene encoding the VP16-accessory protein HCF (HCFC1) resides in human Xq28 and is highly expressed in fetal tissues and the adult kidney.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression.

28 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

A de novo paradigm for mental retardation.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

Lentivirus-mediated expression of insulin-like growth factor-I promotes neural stem/precursor cell proliferation and enhances their potential to generate neurons

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

E2F activation of S phase promoters via association with HCF-1 and the MLL family of histone H3K4 methyltransferases.

22 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3484651

GABP, HCF-1 and YY1 are involved in Rb gene expression during myogenesis

22 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23000143

12 December 2020

inferred from PubMed ID database lookup

Isolation and manipulation of mammalian neural stem cells in vitro

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23000143

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.AJHG.2012.08.011

1 reference

13 August 2017

1 reference

13 August 2017

1 reference