(Q38019219)

27 August 2017

9 references

22 April 2019

20 June 2019

22 June 2019

30 June 2019

19 September 2019

24 June 2020

1 September 2020

30 September 2020

8 April 2021

A generalizable pre-clinical research approach for orphan disease therapy (English)

1 reference

biomedical investigative technique

27 August 2017

5 references

22 April 2019

20 June 2019

22 June 2019

30 June 2019

19 September 2019

1 reference

19 September 2019

1 reference

1 reference

1 September 2020

translational medical research

1 reference

30 September 2020

computational biology

1 reference

8 April 2021

3

1 reference

27 August 2017

5

Aled M Edwards

0 references

Kym M Boycott

9

object named as

Kym M Boycott

1 reference

27 August 2017

Adrian Robert Krainer

6

object named as

Adrian R Krainer

1 reference

27 August 2017

1

Chandree L Beaulieu

1 reference

27 August 2017

8

Brendan J Frey

1 reference

27 August 2017

Mark E Samuels

2

1 reference

27 August 2017

Christopher R McMaster

4

1 reference

27 August 2017

Geoffrey G Hicks

7

1 reference

27 August 2017

Alex E Mackenzie

10

1 reference

27 August 2017

15 June 2012

10 references

Orphanet Journal of Rare Diseases

27 August 2017

22 April 2019

20 June 2019

22 June 2019

30 June 2019

19 September 2019

24 June 2020

1 September 2020

30 September 2020

8 April 2021

10 references

27 August 2017

22 April 2019

20 June 2019

22 June 2019

30 June 2019

19 September 2019

24 June 2020

1 September 2020

30 September 2020

8 April 2021

7

1 reference

27 August 2017

39

1 reference

Creative Commons Attribution 2.0 Generic

27 August 2017

9 references

22 April 2019

20 June 2019

22 June 2019

30 June 2019

19 September 2019

24 June 2020

1 September 2020

30 September 2020

on focus list of Wikimedia project

8 April 2021

copyright status

copyrighted

0 references

ScienceSource

0 references

exact match

https://scigraph.springernature.com/pub.10.1186/1750-1172-7-39

0 references

cites work

Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Suppression of nonsense mutations as a therapeutic approach to treat genetic diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

A computational approach to finding novel targets for existing drugs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

A quality alert and call for improved curation of public chemistry databases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Discovery and preclinical validation of drug indications using compendia of public gene expression data

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2, dose-escalation study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Identification and characterization of pharmacological chaperones to correct enzyme deficiencies in lysosomal storage disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

A machine learning-based method to improve docking scoring functions and its application to drug repurposing

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Effect of VX-770 in persons with cystic fibrosis and the G551D-CFTR mutation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

New Therapeutic Approaches to Mendelian Disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Discovery of drug mode of action and drug repositioning from transcriptional responses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Rational approaches to targeted polypharmacology: creating and navigating protein-ligand interaction networks

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Model-based detection of alternative splicing signals

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: aminoglycosides and ataluren (PTC124).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Genes, mutations, and human inherited disease at the dawn of the age of personalized genomics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Deciphering the splicing code

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Predicting new molecular targets for known drugs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Correlation of mRNA and protein in complex biological samples.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Protein misfolding as an underlying molecular defect in mucopolysaccharidosis III type C

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

p38 Mitogen-activated protein kinase stabilizes SMN mRNA through RNA binding protein HuR.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Drug discovery using chemical systems biology: repositioning the safe medicine Comtan to treat multi-drug and extensively drug resistant tuberculosis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Systematic evaluation of drug-disease relationships to identify leads for novel drug uses

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

A chemogenomic approach to drug discovery: focus on cardiovascular diseases

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Function and structure of inherently disordered proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Massively parallel screening of the receptorome

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

PTC124 is an orally bioavailable compound that promotes suppression of the human CFTR-G542X nonsense allele in a CF mouse model

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

DrugBank: a knowledgebase for drugs, drug actions and drug targets

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Splicing in disease: disruption of the splicing code and the decoding machinery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

6 September 2017

New uses for old drugs

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Three classes of glucocerebrosidase inhibitors identified by quantitative high-throughput screening are chaperone leads for Gaucher disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

PTC124 targets genetic disorders caused by nonsense mutations

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Relating protein pharmacology by ligand chemistry

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

The Connectivity Map: a new tool for biomedical research

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

The Connectivity Map: using gene-expression signatures to connect small molecules, genes, and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Screening the receptorome: an efficient approach for drug discovery and target validation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Global mapping of pharmacological space

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Finding new tricks for old drugs: an efficient route for public-sector drug discovery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Biological spectra analysis: Linking biological activity profiles to molecular structure

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Toxicology of antisense therapeutics

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Pharmacologic rescue of conformationally-defective proteins: implications for the treatment of human disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Screening the receptorome to discover the molecular targets for plant-derived psychoactive compounds: a novel approach for CNS drug discovery

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Identification of SLC39A4, a gene involved in acrodermatitis enteropathica

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Functional discovery via a compendium of expression profiles

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Nonsense-mediated mRNA decay in health and disease

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Sialidase-mediated depletion of GM2 ganglioside in Tay-Sachs neuroglia cells

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

The frequency of genetic disease and congenital malformation among patients in a pediatric hospital

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Prediction of a new surface binding pocket and evaluation of inhibitors against huntingtin interacting protein 14: an insight using docking studies.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Analysis of drug-induced effect patterns to link structure and side effects of medicines

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Biospectra analysis: model proteome characterizations for linking molecular structure and biological response

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

The burden of genetic disease on inpatient care in a children's hospital

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

PROMISCUOUS: a database for network-based drug-repositioning

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Ataluren (PTC124) induces cystic fibrosis transmembrane conductance regulator protein expression and activity in children with nonsense mutation cystic fibrosis

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Proceedings from the 2009 genetic syndromes of the Ras/MAPK pathway: From bedside to bench and back.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Concept-based semi-automatic classification of drugs.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Multiple independent binding sites for small-molecule inhibitors on the oncoprotein c-Myc.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Effectiveness of PTC124 treatment of cystic fibrosis caused by nonsense mutations: a prospective phase II trial

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

IDMap: facilitating the detection of potential leads with therapeutic targets.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3458970

Identification of small molecules enhancing autophagic function from drug network analysis

31 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-39

Chemical target and pathway toxicity mechanisms defined in primary human cell systems

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-39

Chronic ataluren (PTC124) treatment of nonsense mutation cystic fibrosis

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1186%2F1750-1172-7-39

RNA splicing manipulation: strategies to modify gene expression for a variety of therapeutic outcomes

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/22704758

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Challenges and opportunities for local and systemic delivery of siRNA and antisense oligonucleotides

1 reference

https://pubmed.ncbi.nlm.nih.gov/22704758

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Zinc Therapy of Acrodermatitis Enteropathica

1 reference

https://pubmed.ncbi.nlm.nih.gov/22704758

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-7-39

1 reference

Dimensions Publication ID

27 August 2017

0 references

1 reference

27 August 2017

PubMed publication ID

22704758

1 reference