(Q48235466)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

case report

0 references

title

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Annalisa Vetro

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Ivan Limongelli

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Orsetta Zuffardi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

author name string

Salvatore Savasta

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Annalisa Russo Raucci

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Cristina Cerqua

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Geppo Sartori

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Antonella Forlino

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Silvia Maruelli

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Paola Perucca

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Debora Vergani

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Giuliano Mazzini

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Lucia Anna Stivala

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

Leonardo Salviati

14

1 reference

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2 April 2020

publication date

15 February 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

European Journal of Human Genetics

2 April 2020

published in

1 reference

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2 April 2020

volume

25

1 reference

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2 April 2020

issue

5

1 reference

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2 April 2020

page(s)

646-650

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

Mutations in CDC45, Encoding an Essential Component of the Pre-initiation Complex, Cause Meier-Gorlin Syndrome and Craniosynostosis

2 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

De Novo GMNN Mutations Cause Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

22 May 2018

Meier-Gorlin syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Functional conservation of the pre-sensor one beta-finger hairpin (PS1-hp) structures in mini-chromosome maintenance proteins of Saccharomyces cerevisiae and archaea

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

The PS1 hairpin of Mcm3 is essential for viability and for DNA unwinding in vitro

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Meier-Gorlin syndrome mutations disrupt an Orc1 CDK inhibitory domain and cause centrosome reduplication

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Partial MCM4 deficiency in patients with growth retardation, adrenal insufficiency, and natural killer cell deficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Mutations in the pre-replication complex cause Meier-Gorlin syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Functional complementation in yeast allows molecular characterization of missense argininosuccinate lyase mutations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Crystal structure of a near-full-length archaeal MCM: Functional insights for an AAA+ hexameric helicase

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Mutations in the pericentrin (PCNT) gene cause primordial dwarfism

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Dormant origins licensed by excess Mcm2-7 are required for human cells to survive replicative stress.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Depletion of minichromosome maintenance protein 5 in the zebrafish retina causes cell-cycle defect and apoptosis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Mutations in origin recognition complex gene ORC4 cause Meier-Gorlin syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5437912

Loss-of-Function FANCL Mutations Associate with Severe Fanconi Anemia Overlapping the VACTERL Association

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2017.5

inferred from DOI database lookup

7 January 2021

based on heuristic

Unexpected results in the constitution of small supernumerary marker chromosomes

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2017.5

inferred from DOI database lookup

7 January 2021

based on heuristic

Organization of the archaeal MCM complex on DNA and implications for the helicase mechanism

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2017.5

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1038/EJHG.2017.5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28198391%20AND%20SRC:MED&resulttype=core&format=json

2 April 2020

PubMed publication ID

28198391

1 reference