(Q42573970)

2 November 2017

Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction (English)

1 reference

Shwachman-Diamond syndrome

2 November 2017

1 reference

1 reference

10

George Q Daley

1 reference

2 November 2017

5

In Hyun Park

1 reference

2 November 2017

6

Odelya Hartung

1 reference

2 November 2017

3

M William Lensch

1 reference

2 November 2017

9

Akiko Shimamura

1 reference

2 November 2017

4

Jade McPherson

1 reference

2 November 2017

1

Asmin Tulpule

1 reference

2 November 2017

James M Kelley

2

1 reference

2 November 2017

Tomoka Nakamura

series ordinal

7

1 reference

2 November 2017

Thorsten M Schlaeger

series ordinal

8

1 reference

2 November 2017

language of work or name

English

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publication date

18 April 2013

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2 November 2017

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2 November 2017

12

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2 November 2017

6

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2 November 2017

727-736

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describes a project that uses

2 November 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3755012/fullTextXML

inferred from PubMed Central ID database lookup

cites work

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Defective ribosome assembly in Shwachman-Diamond syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Stage-specific signaling through TGFβ family members and WNT regulates patterning and pancreatic specification of human pluripotent stem cells.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Enteropathic histopathological features may be associated with Shwachman-Diamond syndrome.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Mechanism of eIF6-mediated Inhibition of Ribosomal Subunit Joining

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

A small molecule that directs differentiation of human ESCs into the pancreatic lineage.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Guidelines and techniques for the generation of induced pluripotent stem cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Disease-specific induced pluripotent stem cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Generation of human-induced pluripotent stem cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Marked differences in differentiation propensity among human embryonic stem cell lines

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Shwachman-Diamond syndrome is associated with low-turnover osteoporosis

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Mutations in the SBDS gene in acquired aplastic anemia

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Shwachman-Diamond syndrome is not necessary for the terminal maturation of neutrophils but is important for maintaining viability of granulocyte precursors

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Loss of the mouse ortholog of the shwachman-diamond syndrome gene (Sbds) results in early embryonic lethality

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

The Shwachman-Diamond SBDS protein localizes to the nucleolus

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Cytokines and BMP-4 promote hematopoietic differentiation of human embryonic stem cells

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

A lentivirus-based system to functionally silence genes in primary mammalian cells, stem cells and transgenic mice by RNA interference

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Mutations in SBDS are associated with Shwachman-Diamond syndrome

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.

28 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Generation of homogeneous PDX1(+) pancreatic progenitors from human ES cell-derived endoderm cells

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Analysis of risk factors for myelodysplasias, leukemias and death from infection among patients with congenital neutropenia. Experience of the French Severe Chronic Neutropenia Study Group

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Endostatin induces autophagic cell death in EAhy926 human endothelial cells

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3755012

Shwachman-Diamond syndrome

16 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23602541

12 December 2020

inferred from PubMed ID database lookup

The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23602541

12 December 2020

inferred from PubMed ID database lookup

Evidence of a generalized defect of acinar cell function in Shwachman-Diamond syndrome

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23602541

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/J.STEM.2013.04.002

1 reference

2 November 2017

1 reference

2 November 2017

PubMed publication ID

23602541

1 reference