Evidence map›Paper›PMID 27889498›Full record

ArticleJournal of genetics and genomics = Yi chuan xue bao2016

BLOC-2 subunit HPS6 deficiency affects the tubulation and secretion of von Willebrand factor from mouse endothelial cells.

Jing Ma, Zhe Zhang, Lin Yang, Janos Kriston-Vizi, Daniel F Cutler, Wei Li

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

Article in Journal of genetics and genomics = Yi chuan xue bao, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
0.9field-weighted citation impact, top 25% 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

15 citing papers in PubMed, 24 citations in OpenAlex.

  1. Review
  2. Article
  3. Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.International journal of molecular sciences · 2024
    Article
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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

6 authors at 3 institutions in 2 countries.

Jing MaCenter for Medical Genetics, Beijing Children's Hospital, Capital Medical University, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Pediatric Disease Research, Beijing 100045, China; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Zhe ZhangState Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Lin YangState Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China.
Janos Kriston-ViziMRC Laboratory for Molecular Cell Biology, University College of London, London WC1E 6BT, UK.
Daniel F CutlerMRC Laboratory for Molecular Cell Biology, University College of London, London WC1E 6BT, UK. Electronic address: d.cutler@ucl.ac.uk.
Wei LiCenter for Medical Genetics, Beijing Children's Hospital, Capital Medical University, Beijing Pediatric Research Institute, MOE Key Laboratory of Major Pediatric Disease Research, Beijing 100045, China; State Key Laboratory of Molecular Developmental Biology, Institute of Genetics and Developmental Biology, Chinese Academy of Sciences, Beijing 100101, China; Center of Alzheimer's Disease, Beijing Institute for Brain Disorders, Beijing 100069, China. Electronic address: liwei@bch.com.cn.
Chinese Academy of Sciences · CNInstitute of Genetics and Developmental Biology · CNMRC Laboratory for Molecular Cell Biology · GB

Funding

Medical Research Council MC_UU_12018/2
6 · The paper itself

Abstract

Hermansky-Pudlak syndrome (HPS) is a recessive disorder with bleeding diathesis, which has been linked to platelet granule defects. Both platelet granules and endothelial Weibel-Palade bodies (WPBs) are members of lysosome-related organelles (LROs) whose formation is regulated by HPS protein associated complexes such as BLOC (biogenesis of lysosome-related organelles complex) -1, -2, -3, AP-3 (adaptor protein complex-3) and HOPS (homotypic fusion and protein sorting complex). Von Willebrand factor (VWF) is critical to hemostasis, which is stored in a highly-multimerized form as tubules in the WPBs. In this study, we found the defective, but varying, release of VWF into plasma after desmopressin (DDAVP) stimulation in HPS1 (BLOC-3 subunit), HPS6 (BLOC-2 subunit), and HPS9 (BLOC-1 subunit) deficient mice. In particular, VWF tubulation, a critical step in VWF maturation, was impaired in HPS6 deficient WPBs. This likely reflects a defective endothelium, contributing to the bleeding tendency in HPS mice or patients. The differentially defective regulated release of VWF in these HPS mouse models suggests the need for precise HPS genotyping before DDAVP administration to HPS patients.

Indexed as

AnimalsDeamino Arginine VasopressinEndothelial CellsGenotypeHomeostasisHumansIntracellular Signaling Peptides and ProteinsMiceProtein ConformationVesicular Transport Proteinsvon Willebrand FactorDeamino Arginine VasopressinHps6 protein, mouseIntracellular Signaling Peptides and ProteinsVesicular Transport Proteinsvon Willebrand FactorBiogenesis of lysosome-related organells complexHemostasisHermansky-Pudlak syndromevon Willebrand factorWeibel-Palade bodies

Identifiers

PMID27889498
PMCPMC5199771
OpenAlexW2534264324

What OpenQuestion holds

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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.