Evidence map›Paper›PMID 25468649›Full record

ArticleMolecular genetics and metabolism2015

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Yasuhiro Ikawa, Richard Hess, Heidi Dorward, Andrew R Cullinane, Marjan Huizing, Bernadette R Gochuico, William A Gahl, Fabio Candotti

Open access · greenAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics and metabolism, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
0.6field-weighted citation impact, top 35% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

11 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Review
  5. Overexpression of Decay Accelerating Factor Mitigates Fibrotic Responses to Lung Injury.American journal of respiratory cell and molecular biology · 2022
    Article
  6. Article
  7. Hermansky-Pudlak syndrome pulmonary fibrosis: a rare inherited interstitial lung disease.European respiratory review : an official journal of the European Respiratory Society · 2021
    Article
  8. Review
  9. Article
  10. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome.Annals of the American Thoracic Society · 2016
    Review
  11. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 2 institutions in 1 country.

Yasuhiro IkawaGenetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Richard HessMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Heidi DorwardMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Andrew R CullinaneMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Marjan HuizingMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Bernadette R GochuicoMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
William A GahlMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Fabio CandottiGenetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. Electronic address: fabio.candotti@chuv.ch.
National Human Genome Research Institute · USNational Institutes of Health · US

Funding

NHGRI/DIR Clinical Support ServicesZIDHG200352 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI SOLOMON, BENJAMIN · 2009 to 2025
$182.8M
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
Gene Therapy Approaches for Primary ImmunodeficienciesZIAHG000122 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CANDOTTI, FABIO · 2009 to 2014
$6.5M
GENE THERAPY APPROACHES FOR PRIMARY IMMUNODEFICIENCIESZ01HG000122 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI CANDOTTI, FABIO · 1998 to 2008
$3.2M
Intramural NIH HHS Z01 HG000122Intramural NIH HHS Z99 HG999999Intramural NIH HHS ZIA HG000122
6 · The paper itself

Abstract

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications. We demonstrate that lentiviral-mediated gene transfer corrects the expression and function of the HPS1 gene in patient dermal melanocytes, which opens the way to development of gene therapy for HPS.

Indexed as

Genetic TherapyCells, CulturedGene ExpressionGenetic VectorsGuanine Nucleotide Exchange FactorsHermanski-Pudlak SyndromeHumansLentivirusMelanocytesMembrane GlycoproteinsMembrane ProteinsMutationOxidoreductasesProteinsTransduction, GeneticGuanine Nucleotide Exchange FactorsHPS1 protein, humanHPS4 protein, humanMembrane GlycoproteinsMembrane ProteinsOxidoreductasesProteinsTYRP1 protein, humanGene therapyHermansky–Pudlak syndromeLentivirusMelanocytesPulmonary fibrosis

Identifiers

PMID25468649
PMCPMC4279856
OpenAlexW2019536578

What OpenQuestion holds

Textmetadata
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Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.