R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia (Q34461284)

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English	R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia	scientific article

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scholarly article

1 reference

Europe PubMed Central

2 August 2017

R561C missense mutation in the SMARCAL1 gene associated with mild Schimke immuno-osseous dysplasia (English)

1 reference

Europe PubMed Central

2 August 2017

author name string

Arend Bökenkamp

1

1 reference

Europe PubMed Central

2 August 2017

Miranda deJong

2

1 reference

Europe PubMed Central

2 August 2017

Joanna A E van Wijk

3

1 reference

Europe PubMed Central

2 August 2017

Diana Block

4

1 reference

Europe PubMed Central

2 August 2017

Johanna M van Hagen

5

1 reference

Europe PubMed Central

2 August 2017

Michael Ludwig

6

1 reference

Europe PubMed Central

2 August 2017

publication date

20 October 2005

1 reference

Europe PubMed Central

2 August 2017

Pediatric Nephrology

1 reference

Europe PubMed Central

2 August 2017

20

1 reference

Europe PubMed Central

2 August 2017

1724-1728

1 reference

Europe PubMed Central

2 August 2017

12

1 reference

Europe PubMed Central

2 August 2017

https://scigraph.springernature.com/pub.10.1007/s00467-005-2047-x

0 references

Schimke immuno-osseous dysplasia: case report and review of 25 patients

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2047-X

21 January 2018

Female pseudohermaphroditism associated with a novel homozygous G-to-A (V370-to-M) substitution in the P-450 aromatase gene.

1 reference

https://api.crossref.org/works/10.1007%2FS00467-005-2047-X

21 January 2018

Chondroitin-6-sulphaturia, defective cellular immunity, and nephrotic syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

SWI2/SNF2 and related proteins: ATP-driven motors that disrupt protein-DNA interactions?

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Cloning and characterization of HARP/SMARCAL1: a prokaryotic HepA-related SNF2 helicase protein from human and mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Schimke immuno-osseous dysplasia: a newly recognized multisystem disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Distantly related sequences in the alpha- and beta-subunits of ATP synthase, myosin, kinases and other ATP-requiring enzymes and a common nucleotide binding fold

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromatin remodeling and human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Generalized atherosclerosis sparing the transplanted kidney in Schimke disease.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two related superfamilies of putative helicases involved in replication, recombination, repair and expression of DNA and RNA genomes

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Juvenile variant of Schimke immunoosseous dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Longevity in Schimke immuno-osseous dysplasia

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Chromatin remodeling by ATP-dependent molecular machines.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunophenotyping of blood lymphocytes in childhood. Reference values for lymphocyte subpopulations

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Spondyloepiphyseal dysplasia tarda and nephrotic syndrome in three siblings.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

ATP-dependent chromatin remodeling activities.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Steroid resistant nephrotic syndrome associated with spondyloepiphyseal dysplasia, transient ischemic attacks and lymphopenia.

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Helicase motifs: the engine that powers DNA unwinding

1 reference

https://pubmed.ncbi.nlm.nih.gov/16237566

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1007/S00467-005-2047-X

1 reference

Europe PubMed Central

2 August 2017

Dimensions Publication ID

0 references

1 reference

Europe PubMed Central

2 August 2017

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