MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans. (Q35780277)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354170%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

title

MCM4 mutation causes adrenal failure, short stature, and natural killer cell deficiency in humans (English)

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23 January 2020

2

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23 January 2020

Leonardo Guasti

3

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23 January 2020

Lou Metherell

10

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23 January 2020

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Adrian J L Clark

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23 January 2020

author name string

Claire R Hughes

1

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23 January 2020

Eirini Meimaridou

4

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23 January 2020

Chen-Hua Chuang

5

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23 January 2020

John C Schimenti

6

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23 January 2020

Peter J King

7

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23 January 2020

Colm Costigan

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23 January 2020

language of work or name

English

0 references

publication date

22 February 2012

1 reference

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Journal of Clinical Investigation

23 January 2020

published in

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23 January 2020

volume

122

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23 January 2020

page(s)

814-820

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23 January 2020

issue

3

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

23 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Adrenocortical stem and progenitor cells: unifying model of two proposed origins

27 July 2018

1 reference

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Localization of Sonic hedgehog secreting and receiving cells in the developing and adult rat adrenal cortex.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Incremental genetic perturbations to MCM2-7 expression and subcellular distribution reveal exquisite sensitivity of mice to DNA replication stress

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

The Dbf4-Cdc7 kinase promotes S phase by alleviating an inhibitory activity in Mcm4

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Shh signaling regulates adrenocortical development and identifies progenitors of steroidogenic lineages

27 July 2018

1 reference

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Aneuploidy and improved growth are coincident but not causal in a yeast cancer model

27 July 2018

1 reference

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GATA transcription factors in adrenal development and tumors.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Phosphorylation of MCM4 by Cdc7 kinase facilitates its interaction with Cdc45 on the chromatin

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Eukaryotic MCM proteins: beyond replication initiation

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Differential expression of GATA-4 and GATA-6 in fetal and adult mouse and human adrenal tissue

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

MCM proteins in DNA replication

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

A human homologue of the yeast replication protein Cdc21. Interactions with other Mcm proteins.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Constitutive beta-catenin activation induces adrenal hyperplasia and promotes adrenal cancer development.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

IBDfinder and SNPsetter: tools for pedigree-independent identification of autozygous regions in individuals with recessive inherited disease

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

A novel variant of familial glucocorticoid deficiency prevalent among the Irish Traveler population

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Reduced Mcm2 expression results in severe stem/progenitor cell deficiency and cancer.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Genetic screen for chromosome instability in mice: Mcm4 and breast cancer.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

A viable allele of Mcm4 causes chromosome instability and mammary adenocarcinomas in mice.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Human natural killer cell deficiencies

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Expression pattern of the ether-a-go-go-related (ERG) family proteins in the adult mouse central nervous system: evidence for coassembly of different subunits.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3287227

Subcapsular cell hyperplasia and mast cell infiltration in the adrenal cortex of mice: comparative study in 7 inbred strains

25 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22354170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Adrenocorticotropin insensitivity syndromes

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22354170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Familial Addison's disease; case reports of two sisters with corticoid deficiency unassociated with hypoaldosteronism

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22354170

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1172/JCI60224

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354170%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354170%20AND%20SRC:MED&resulttype=core&format=json

23 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22354170%20AND%20SRC:MED&resulttype=core&format=json