Mutations in the pre-replication complex cause Meier-Gorlin syndrome (Q24629357)

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23 January 2020

title

Mutations in the pre-replication complex cause Meier-Gorlin syndrome (English)

1 reference

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23 January 2020

main subject

Meier-Gorlin syndrome

1 reference

24

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23 January 2020

Michael B Bober

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23 January 2020

Hans van Bokhoven

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23 January 2020

John Dean

12

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23 January 2020

Karen Temple

23

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23 January 2020

Carol Wise

25

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23 January 2020

Andrew Jackson

27

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23 January 2020

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John M Opitz

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23 January 2020

1

Louise S Bicknell

1 reference

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23 January 2020

18

Nine V A M Knoers

1 reference

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23 January 2020

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Lies H Hoefsloot

1 reference

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Ernie M H F Bongers

1 reference

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23 January 2020

author name string

Andrea Leitch

3

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23 January 2020

Stephen Brown

4

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23 January 2020

Jeroen Schoots

5

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23 January 2020

Margaret E Harley

6

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23 January 2020

Salim Aftimos

7

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23 January 2020

Jumana Y Al-Aama

8

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23 January 2020

Paul A J Brown

10

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23 January 2020

Alaa Y Edrees

13

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23 January 2020

Murray Feingold

14

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23 January 2020

Alan Fryer

15

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23 January 2020

Nikolaus Kau

17

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23 January 2020

James Mackenzie

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23 January 2020

Pierre Sarda

21

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23 January 2020

Alison Ross

22

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23 January 2020

Michael Wright

26

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23 January 2020

language of work or name

English

0 references

publication date

27 February 2011

1 reference

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23 January 2020

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23 January 2020

volume

43

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23 January 2020

issue

4

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23 January 2020

page(s)

356-359

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Cornelia de Lange syndrome, cohesin, and beyond

23 January 2020

cites work

1 reference

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Structure and Mutagenesis Studies of the C-terminal Region of Licensing Factor Cdt1 Enable the Identification of Key Residues for Binding to Replicative Helicase Mcm Proteins

7 April 2017

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AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes

7 April 2017

1 reference

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Novel CENPJ mutation causes Seckel syndrome

7 April 2017

1 reference

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ATP hydrolysis by ORC catalyzes reiterative Mcm2-7 assembly at a defined origin of replication

7 April 2017

1 reference

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A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome

7 April 2017

1 reference

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Malformation syndromes. A selected miscellany

7 April 2017

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The Cdc6 nucleotide-binding site regulates its activity in DNA replication in human cells

7 April 2017

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CEP152 is a genome maintenance protein disrupted in Seckel syndrome

7 April 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.775

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

22 April 2017

1 reference

Crossref

https://api.crossref.org/works/10.1038/NG.775

Mutations in pericentrin cause Seckel syndrome with defective ATR-dependent DNA damage signaling

22 April 2017

1 reference

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Orc6 is required for dynamic recruitment of Cdt1 during repeated Mcm2-7 loading

27 September 2017

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The many faces of the origin recognition complex

27 September 2017

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A structural role for ATP in the formation and stability of the human origin recognition complex

27 September 2017

1 reference

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Perpetuating the double helix: molecular machines at eukaryotic DNA replication origins

27 September 2017

1 reference

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Meier-Gorlin syndrome: report of eight additional cases and review.

27 September 2017

1 reference

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Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome

27 September 2017

1 reference

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[Case of arthrogryposis multiplex congenita with mandibulofacial dysostosis (Franceschetti syndrome).]

30 May 2018

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The case for locus-specific databases

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21358632

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Regulatory changes underlying expression differences within and between Drosophila species.

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FNG.775

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/NG.775

2 references

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Dimensions Publication ID

23 January 2020

1009362466

0 references

1 reference

2 references

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23 January 2020

PubMed publication ID

21358632

2 references