Evidence map›Paper›PMID 35798703›Full record

ArticleCell death & disease2022

CHST15 gene germline mutation is associated with the development of familial myeloproliferative neoplasms and higher transformation risk.

Yi Chen, Yang Zhang, Zhihua Wang, Yewei Wang, Yujiao Luo, Nannan Sun, Shasha Zheng, Wenzhe Yan, Xiang Xiao, Sufang Liu and 6 more

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

Article in Cell death & disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.

0numbers the graph read from it
0cells of the map it votes in
21citing papers in PubMed
3.5field-weighted citation impact, top 6% 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

21 citing papers in PubMed, 27 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Diagnosis- and Prognosis-Related Gene Alterations inInternational journal of molecular sciences · 2023
    Review
  19. Article
  20. 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

16 authors at 2 institutions in 1 country.

Yi Chen *Department of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Yang Zhang *Department of Oncology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Zhihua WangDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Yewei WangDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Yujiao LuoDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Nannan SunDepartment of Hematology, The First affiliated Hospital, Zhengzhou University, Zhengzhou, Henan, China.
Shasha ZhengDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Wenzhe YanDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Xiang XiaoDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Sufang LiuDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Ji LiDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Hongling PengDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Yunxiao XuDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China.
Guoyu HuDepartment of Hematology, The Affiliated ZhuZhou Hospital of XiangYa Medical College, Central South University, Zhuzhou, Hunan, China.
Zhao ChengDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China. chengzhao@csu.edu.cn.
Guangsen ZhangDepartment of Hematology, Institute of Molecular Hematology, The Second XiangYa Hospital, Central South University, Changsha, Hunan, China. zgsllzy@163.com.ORCID 0000-0002-4203-7747
Central South University · CNFirst Affiliated Hospital of Zhengzhou University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Herein, we describe the clinical and hematological features of three genetically related families predisposed to myeloproliferative neoplasms (MPNs). Using whole-exome sequencing, we identified a c.1367delG mutation(p.Arg456fs) in CHST15 (NM_001270764), a gene encoding a type II transmembraneglycoproteinthat acts as a sulfotransferase and participates in the biosynthesis of chondroitin sulfate E, in germline and somatic cells in familial MPN. CHST15defects caused an increased JAK2V617F allele burden and upregulated p-Stat3 activity,leading to an increase in the proliferative and prodifferentiation potential of transgenic HEL cells. We demonstrated that mutant CHST15 is able to coimmmunoprecipitate the JAK2 protein,suggesting the presence of a CHST15-JAK2-Stat3 signaling axis in familial MPN. Gene expression profiling showed that the FREM1, IFI27 and C4B_2 genes are overexpressed in familial MPN, suggesting the activation of an "inflammatory response-extracellular matrix-immune regulation" signaling network in the CHST15 mutation background.We thus concluded that CHST15 is a novel gene that predisposes to familial MPN and increases the probability of disease development or transformation.

Indexed as

Membrane GlycoproteinsMyeloproliferative DisordersNeoplasmsSulfotransferasesAllelesGerm-Line MutationHumansJanus Kinase 2CHST15 protein, humanJanus Kinase 2Membrane GlycoproteinsSulfotransferases

Identifiers

PMID35798703
PMCPMC9263130
OpenAlexW4284891098

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.