Evidence map›Paper›PMID 31652981›Full record

ArticleInternational journal of molecular sciences2019

Deleterious Variants in

Asia Parveen, Sher Alam Khan, Muhammad Usman Mirza, Hina Bashir, Fatima Arshad, Maria Iqbal, Waseem Ahmad, Ahsan Wahab, Amal Fiaz, Sidra Naz and 13 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
0.8field-weighted citation impact, top 28% 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

12 citing papers in PubMed, 33 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
  6. Tooth number abnormality: from bench to bedside.International journal of oral science · 2023
    Review
  7. Review
  8. Article
  9. Article
  10. Article
  11. The First Report of a Missense Variant inFrontiers in genetics · 2021
    Article
  12. Frontiers in physiology · 2020
    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

23 authors at 8 institutions in 6 countries.

Asia ParveenInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. asiaemaan08@gmail.com.ORCID 0000-0002-4524-8355
Sher Alam KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan. sakmarwat79@gmail.com.
Muhammad Usman MirzaDepartment of Pharmaceutical Sciences, REGA Institute for Medical Research, Medicinal Chemistry, University of Leuven, 3000 Leuven, Belgium. usmanmirzapk@yahoo.com.ORCID 0000-0001-9120-2414
Hina BashirInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. hina_dentist@yahoo.com.
Fatima ArshadInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. fatimarshd968@gmail.com.
Maria IqbalInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. maria00415@yahoo.com.
Waseem AhmadInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. mr.wasee@gmail.com.
Ahsan WahabBaptist Medical Center, University of Alabama at Birmingham, Montgomery, AL 35294, USA. Drahsan.wahab@gmail.com.
Amal FiazInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. amalfiaz@gmail.com.
Sidra NazInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. sidra.naz557@gmail.com.
Fareeha AshrafInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. fareehaashraf274@gmail.com.
Tayyaba MobeenInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. tayyabach5@gmail.com.
Salman AzizInstitute of Advanced Dental Sciences and Research, Lahore 54000, Pakistan. drsalmanaziz@gmail.com.
Syed Shoaib AhmedInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. solodux@gmail.com.ORCID 0000-0002-9173-8566
Noor MuhammadDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan. noormwazir@yahoo.com.
Nehal F HassibOrodental Genetics Department, National Research Centre, Giza 12622, Egypt. nounih@hotmail.com.ORCID 0000-0001-8902-9018
Mostafa I MostafaOrodental Genetics Department, National Research Centre, Giza 12622, Egypt. mostafanrc@yahoo.com.
Nagwa E GaboonMedical Genetics Center, Faculty of Medicine, AinShams University, Cairo 12413, Egypt. nogaota5000@yahoo.com.
Roquyya GulFaculty of Life Sciences, Gulab Devi Educational Complex, Lahore, Ferozepur Road, Lahore 54000, Pakistan. roquyya.gul@gdec.edu.pk.ORCID 0000-0002-5294-8421
Saadullah KhanDepartment of Biotechnology and Genetic Engineering, Kohat University of Science and Technology (KUST), Kohat 26000, Khyber Pakhtunkhwa, Pakistan. saadkhanwazir@gmail.com.
Matheus FroeyenDepartment of Pharmaceutical Sciences, REGA Institute for Medical Research, Medicinal Chemistry, University of Leuven, 3000 Leuven, Belgium. mathy.froeyen@kuleuven.be.
Muhammad ShoaibBiotech Research and Innovation Center (BRIC), Faculty of Health and Medical Sciences, University of Copenhagen, 2200 Copenhagen, Denmark. muhammad.shoaib@bric.ku.dk.ORCID 0000-0003-1296-5005
Naveed WasifInstitute of Molecular Biology and Biotechnology (IMBB), Center for Research in Molecular Medicine (CRiMM), The University of Lahore, Lahore 54000, Pakistan. naveedwasif@gmail.com.ORCID 0000-0002-3455-8833
University of Lahore · PKKohat University of Science and Technology · PKNational Research Centre · EGRega Institute for Medical Research · BEAin Shams University · EGSuperior University · PKUniversity of Alabama at Birmingham · USUniversity of Copenhagen · DK

Funding

Alexander von Humboldt-Stiftung 2015Higher Education Commision, Pakistan 4857/NRPU/R&D/HEC 2014
6 · The paper itself

Abstract

The dental abnormalities are the typical features of many ectodermal dysplasias along with congenital malformations of nails, skin, hair, and sweat glands. However, several reports of non-syndromic/isolated tooth agenesis have also been found in the literature. The characteristic features of hypohidrotic ectodermal dysplasia (HED) comprise of hypodontia/oligodontia, along with hypohidrosis/anhidrosis, and hypotrichosis. Pathogenic variants in

Indexed as

Molecular Dynamics SimulationEctodermal Dysplasia 1, AnhidroticEctodysplasinsEdar ReceptorExome SequencingHumansMutation, MissensePedigreePhenotypeProtein StabilityProtein Structure, TertiaryWnt ProteinsEctodysplasinsEDA protein, humanEDAR protein, humanEdar ReceptorWNT10A protein, humanWnt ProteinsEDAEDARexome sequencingHypodontia/oligodontiaHypohidrotic ectodermal dysplasiaMD simulationsWNT10A

Identifiers

PMID31652981
PMCPMC6862269
OpenAlexW2981984571

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.