Variants in CUL4B are associated with cerebral malformations (Q28251358)

44

0 references

Andreas Tzschach

9

0 references

Jamel Chelly

40

0 references

Hans van Bokhoven

37

0 references

Anita Rauch

18

0 references

Sylvie Odent

24

0 references

Jacqueline Vigneron

22

0 references

Nadia Bahi-Buisson

3

0 references

Karine Poirier

21

0 references

Hans-Hilger Ropers

34

0 references

Christian Gilissen

Christian Gilissen

8

0 references

Irma Järvelä

Irma Järvelä

33

0 references

Stefan Haas

Stefan A Haas

4

0 references

Han G. Brunner

36

Han G Brunner

0 references

Helger G Yntema

32

Helger G Yntema

0 references

Willy M Nillesen

31

Willy M Nillesen

0 references

Patrick Rump

12

Patrick Rump

0 references

Lisenka Vissers

7

Lisenka E L M Vissers

0 references

Michèl A A P Willemsen

39

Anneke T Vulto-van Silfhout

Michèl A A P Willemsen

0 references

1

Anneke T Vulto-van Silfhout

0 references

Arjan P M de Brouwer

45

Arjan P M de Brouwer

0 references

Ewa Obersztyn

26

Ewa Obersztyn

0 references

Agnieszka Charzewska

28

Agnieszka Charzewska

0 references

Bert B A de Vries

35

Bert B A de Vries

0 references

author name string

Tadashi Nakagawa

2

0 references

Hao Hu

5

0 references

Melanie Bienek

6

0 references

Andreas Busche

10

0 references

Jörg Müsebeck

11

0 references

Inge B Mathijssen

13

0 references

Kristiina Avela

14

0 references

Mirja Somer

15

0 references

Fatma Doagu

16

0 references

Anju K Philips

17

0 references

Alessandra Baumer

19

0 references

Krysta Voesenek

20

0 references

Daniel Amram

23

0 references

Magdalena Nawara

25

0 references

Jacek Lenart

27

0 references

Nicolas Lebrun

29

0 references

Ute Fischer

30

0 references

F Lucy Raymond

38

0 references

Yue Xiong

41

0 references

A James Barkovich

42

0 references

Vera M Kalscheuer

Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability

43

0 references

language of work or name

English

0 references

publication date

January 2015

0 references

published in

Human Mutation

0 references

volume

36

0 references

issue

1

0 references

page(s)

106-17

0 references

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

CRL4B catalyzes H2AK119 monoubiquitination and coordinates with PRC2 to promote tumorigenesis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Microcephaly gene links trithorax and REST/NRSF to control neural stem cell proliferation and differentiation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Rescue of the genetically engineered Cul4b mutant mouse as a potential model for human X-linked mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

WDR62 is associated with the spindle pole and is mutated in human microcephaly

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Mutations in WDR62, encoding a centrosome-associated protein, cause microcephaly with simplified gyri and abnormal cortical architecture

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

REDD1, an inhibitor of mTOR signalling, is regulated by the CUL4A-DDB1 ubiquitin ligase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

WD40 protein FBW5 promotes ubiquitination of tumor suppressor TSC2 by DDB1-CUL4-ROC1 ligase

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Cullin 5 regulates Dab1 protein levels and neuron positioning during cortical development

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

The X-linked mental retardation gene SMCX/JARID1C defines a family of histone H3 lysine 4 demethylases

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Mutations in CUL4B, which encodes a ubiquitin E3 ligase subunit, cause an X-linked mental retardation syndrome associated with aggressive outbursts, seizures, relative macrocephaly, central obesity, hypogonadism, pes cavus, and tremor

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Molecular architecture and assembly of the DDB1-CUL4A ubiquitin ligase machinery

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Mechanisms underlying ubiquitination

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

ROC1, a homolog of APC11, represents a family of cullin partners with an associated ubiquitin ligase activity

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Point mutations and an intragenic deletion in LIS1, the lissencephaly causative gene in isolated lissencephaly sequence and Miller-Dieker syndrome

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

X-linked mental retardation gene CUL4B targets ubiquitylation of H3K4 methyltransferase component WDR5 and regulates neuronal gene expression

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Regulation of MLL1 H3K4 methyltransferase activity by its core components

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

CRL4B promotes tumorigenesis by coordinating with SUV39H1/HP1/DNMT3A in DNA methylation-based epigenetic silencing

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Cul4B regulates neural progenitor cell growth

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Genetic and epigenetic networks in intellectual disabilities.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Cullin 4B protein ubiquitin ligase targets peroxiredoxin III for degradation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

The cullin protein family

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Mutations in WDR62, encoding a centrosomal and nuclear protein, in Indian primary microcephaly families with cortical malformations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

CUL4B-deficiency in humans: understanding the clinical consequences of impaired Cullin 4-RING E3 ubiquitin ligase function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

CRL4s: the CUL4-RING E3 ubiquitin ligases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Characterization of nuclear localization signal in the N terminus of CUL4B and its essential role in cyclin E degradation and cell cycle progression.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

mTORC1 signaling requires proteasomal function and the involvement of CUL4-DDB1 ubiquitin E3 ligase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

The histone H3K4 demethylase SMCX links REST target genes to X-linked 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=4608231

DDB1 functions as a linker to recruit receptor WD40 proteins to CUL4-ROC1 ubiquitin ligases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Targeted ubiquitination of CDT1 by the DDB1-CUL4A-ROC1 ligase in response to DNA damage

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

A new X linked mental retardation (XLMR) syndrome with short stature, small testes, muscle wasting, and tremor localises to Xq24-q25.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

A novel nonsense mutation in CUL4B gene in three brothers with X-linked mental retardation syndrome.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Improved splice site detection in Genie

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

Smith-Fineman-Myers syndrome: report on a large family.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4608231

WDR5, a complexed protein.

2 June 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22718

Novel X-linked mental retardation syndrome with short stature maps to Xq24.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22718

XLID CUL4B mutants are defective in promoting TSC2 degradation and positively regulating mTOR signaling in neocortical neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22718

Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.22718

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25385192

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Deletion of CUL4B leads to concordant phenotype in a monozygotic twin pair

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/25385192