Evidence map›Paper›PMID 29127362›Full record

ArticleScientific reports2017

Functional Analysis of VDR Gene Mutation R343H in A Child with Vitamin D-Resistant Rickets with Alopecia.

Min-Hua Tseng, Shih-Ming Huang, Fu-Sung Lo, Jing-Long Huang, Chih-Jen Cheng, Hwei-Jen Lee, Shih-Hua Lin

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

Article in Scientific reports, 2017. 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
0.2field-weighted citation impact, top 43% 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, 9 citations in OpenAlex.

  1. Article
  2. Genetic Forms of Calciopenic Rickets.The Eurasian journal of medicine · 2022
    Article
  3. 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

7 authors at 4 institutions in 1 country.

Min-Hua TsengGraduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan.
Shih-Ming HuangDepartment of Biochemistry, National Defense Medical Center, Taipei, Taiwan.
Fu-Sung LoDivision of Pediatric Endocrinology, Department of Pediatrics, Chang Gung Memorial Hospital-Chang Gung University, Taoyuan, Taiwan.
Jing-Long HuangDivision of Allergy, Asthma and Rheumatology, Department of Pediatrics, Chang Gung Memorial Hospital-Chang Gung University, Taoyuan, Taiwan.
Chih-Jen ChengDivision of Nephrology, Department of Medicine, Tri-Service General Hospital, National Defense Medical Center, Taipei, Taiwan.
Hwei-Jen LeeDepartment of Biochemistry, National Defense Medical Center, Taipei, Taiwan.
Shih-Hua LinGraduate Institute of Medical Sciences, National Defense Medical Center, Taipei, Taiwan. l521116@ndmctsgh.edu.tw.
National Defense Medical Center · TWChang Gung Memorial Hospital · TWChang Gung University · TWTri-Service General Hospital · TW

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The functional study of different mutations on vitamin D receptor (VDR) gene causing hereditary vitamin D-resistant rickets (HVDRR) remains limited. This study was to determine the VDR mutation and the mechanisms of this mutation-causing phenotype in a family with HVDRR and alopecia. Phenotype was analyzed, and in vitro functional studies were performed. The proband and his affected sister exhibited typical HVDRR with alopecia, and their biochemical and radiographic abnormalities but not alopecia responded to supraphysiological doses of active vitamin D

Indexed as

AlopeciaFamilial Hypophosphatemic RicketsHomozygoteMutation, MissenseReceptors, CalcitriolAmino Acid SubstitutionCalcitriolChildHEK293 CellsHeLa CellsHumansMalePromoter Regions, GeneticProtein MultimerizationVitamin D3 24-HydroxylaseCalcitriolCYP24A1 protein, humanReceptors, CalcitriolVDR protein, humanVitamin D3 24-Hydroxylase

Identifiers

PMID29127362
PMCPMC5681508
OpenAlexW2767301736

What OpenQuestion holds

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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.