Evidence map›Paper›PMID 31897801›Full record

ArticleMolecular genetics and genomics : MGG2020

Characterization of two novel Alu element-mediated α-globin gene cluster deletions causing α

Zhiming Li, Xuan Shang, Shiqiang Luo, Fei Zhu, Xiaofeng Wei, Wanjun Zhou, Yuhua Ye, Tizhen Yan, Ren Cai, Xiangmin Xu

Abstract read
PubMed Publisher
In one paragraph

Article in Molecular genetics and genomics : MGG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 24% 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

3 citing papers in PubMed, 11 citations in OpenAlex.

  1. Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2024
    Article
  2. Article
  3. Update in Laboratory Diagnosis of Thalassemia.Frontiers in molecular biosciences · 2020
    Review
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

10 authors at 3 institutions in 1 country.

Zhiming LiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Xuan ShangDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Shiqiang LuoDepartment of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, 545001, Guangxi, China.
Fei ZhuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Xiaofeng WeiDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Wanjun ZhouDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Yuhua YeDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China.
Tizhen YanDepartment of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, 545001, Guangxi, China.
Ren CaiDepartment of Medical Genetics, Liuzhou Municipal Maternity and Child Healthcare Hospital, Liuzhou, 545001, Guangxi, China.
Xiangmin XuDepartment of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, 510515, Guangdong, China. xixm@smu.edu.cn.
Southern Medical University · CNLiuzhou Maternal and Child Health Hospital · CNChina Guangzhou Analysis and Testing Center · CN

Funding

Guangxi health and family planning commission self-funding project Z20170528National Key R&D Program of China 2018YFA0507800National Key R&D Program of China 2018YFA0507803Natural Science Foundation of China 81870148Natural Science Foundation of Guangdong Province 2017A030313673
6 · The paper itself

Abstract

α-thalassemia is an inherited blood disorder commonly caused by deletions or point mutations involving one or both α-globin genes. Recent studies shed new light on the critical role of upstream enhancers multi-species conserved sequences (MCSs) in the ordered regulation of α-globin gene expression. Herein, we reported two unrelated probands with deletions in α-globin genes and MCSs, respectively. The proband from Family A is a compound heterozygote carrying a known α

Indexed as

Adultalpha-Globinsalpha-ThalassemiaAlu ElementsAnemiaDNA Copy Number VariationsFemaleHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedMultigene FamilyPedigreePoint MutationSequence Deletionalpha-GlobinsBreakpointsCopy number variationsMulti-species conserved sequenceRearrangement mechanismsTargeted next-generation sequencingα-thalassemia

Identifiers

PMID31897801
OpenAlexW2997822801

What OpenQuestion holds

Textmetadata
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.