Evidence map›Paper›PMID 28504827›Full record

ArticleThe British journal of dermatology2018

A homozygous missense mutation in SLC25A16 associated with autosomal recessive isolated fingernail dysplasia in a Pakistani family.

S Khan, M Ansar, A K Khan, K Shah, N Muhammad, S Shahzad, D A Nickerson, M J Bamshad, R L P Santos-Cortez, S M Leal and 1 more

Abstract readLetter
In one paragraph

Article in The British journal of dermatology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.

0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.1field-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

13 citing papers in PubMed, 16 citations in OpenAlex.

  1. Review
  2. From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family.Protein science : a publication of the Protein Society · 2026
    Review
  3. Article
  4. Article
  5. Pediatric Nail Disorders.Skin appendage disorders · 2024
    Review
  6. Review
  7. Article
  8. Review
  9. Review
  10. Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.Journal of translational genetics and genomics · 2020
    Article
  11. First Report of a Known Pathogenic Variant in theIranian journal of public health · 2019
    Article
  12. Emerging Roles in the Biogenesis of CytochromeFrontiers in cell and developmental biology · 2019
    Review
  13. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors at 5 institutions in 2 countries.

S KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
M AnsarDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
A K KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
K ShahDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
N MuhammadDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, Khyber Pakhtunkhwa, Pakistan.
S ShahzadDepartment of Biotechnology & Bioinformatics, International Islamic University, Islamabad, Pakistan.
D A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA, U.S.A.
M J BamshadDepartment of Genome Sciences, University of Washington, Seattle, WA, U.S.A.
R L P Santos-CortezCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, U.S.A.
S M LealCenter for Statistical Genetics, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, U.S.A.
W AhmadDepartment of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.ORCID 0000-0003-1541-7258
Quaid-i-Azam University · PKBaylor Genetics · USKohat University of Science and Technology · PKUniversity of Washington · USInternational Islamic University, Islamabad · PK

Funding

UW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3M
Computational tools for sequence-based large-scale epidemiology studiesR01HG008972 · NHGRI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M, PENG, BO · 2016 to 2019
$1.6M
NHGRI NIH HHS R01 HG008972NHGRI NIH HHS UM1 HG006493
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

AdolescentAdultAutoantigensFemaleGenes, RecessiveHomozygoteHumansMaleMembrane Transport ProteinsMutation, MissenseNails, MalformedPakistanPedigreeYoung AdultAutoantigensMembrane Transport ProteinsSLC25A16 protein, human

Identifiers

PMID28504827
PMCPMC5685937
OpenAlexW2616296480

What OpenQuestion holds

Textmetadata
LicenceTDM
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.