Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia (Q37679433)

21 August 2017

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia (English)

1 reference

21 August 2017

2

Joonhong Park

1 reference

21 August 2017

Hyojin Chae

1

1 reference

21 August 2017

Seungok Lee

3

1 reference

21 August 2017

Myungshin Kim

4

1 reference

21 August 2017

Yonggoo Kim

5

1 reference

21 August 2017

Jae-Wook Lee

6

1 reference

21 August 2017

Nack-Gyun Chung

7

1 reference

21 August 2017

Bin Cho

8

1 reference

21 August 2017

Dae Chul Jeong

9

1 reference

21 August 2017

Jiyeon Kim

10

1 reference

21 August 2017

Jung Rok Kim

11

1 reference

21 August 2017

Geon Park

12

1 reference

21 August 2017

28 March 2014

1 reference

Experimental and Molecular Medicine

21 August 2017

1 reference

21 August 2017

46

1 reference

21 August 2017

e88

1 reference

https://scigraph.springernature.com/pub.10.1038/emm.2013.159

21 August 2017

0 references

cites work

Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Ribosomal protein gene deletions in Diamond-Blackfan anemia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Haploinsufficiency for ribosomal protein genes causes selective activation of p53 in human erythroid progenitor cells

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

The ribosomal basis of Diamond-Blackfan Anemia: mutation and database update

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Signaling to p53: ribosomal proteins find their way.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Diagnosing and treating Diamond Blackfan anaemia: results of an international clinical consensus conference

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

RPS19 mutations in patients with Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Molecular basis of Diamond-Blackfan anemia: new findings from the Italian registry and a review of the literature

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Diamond Blackfan anaemia in the UK: clinical and genetic heterogeneity

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Ten novel Diamond–Blackfan anemia mutations and three polymorphisms within the rps19 gene

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

The Diamond Blackfan Anemia Registry: tool for investigating the epidemiology and biology of Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Truncating ribosomal protein S19 mutations and variable clinical expression in Diamond-Blackfan anemia

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Molecular mechanisms of pathology and treatment in Diamond Blackfan Anaemia.

23 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Gene transfer improves erythroid development in ribosomal protein S19-deficient Diamond-Blackfan anemia

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Extensive gene deletions in Japanese patients with Diamond-Blackfan anemia

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Diamond-Blackfan anemia confirmed by RPS19 gene mutation analysis: a case study and literature review of Korean patients

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

A novel initiation codon mutation in the ribosomal protein S17 gene (RPS17) in a patient with Diamond-Blackfan anemia.

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

RNA and protein evidence for haplo-insufficiency in Diamond-Blackfan anaemia patients with RPS19 mutations

1 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3972785

Identification of new prognosis factors from the clinical and epidemiologic analysis of a registry of 229 Diamond-Blackfan anemia patients. DBA group of Société d'Hématologie et d'Immunologie Pédiatrique (SHIP), Gesellshaft für Pädiatrische Onkologi

1 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24675553

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EMM.2013.159

1 reference

21 August 2017

1 reference

21 August 2017

PubMed publication ID

24675553

1 reference