Evidence map›Paper›PMID 32938580›Full record

ArticleJournal of clinical research in pediatric endocrinology2021

Identification of Three Novel and One Known Mutation in the

Maha Sherif, Hüseyin Demirbilek, Atilla Çayır, Sophia Tahir, Büşra Çavdarlı, Meliha Demiral, Ayşe Nurcan Cebeci, Doğuş Vurallı, Sofia Asim Rahman, Edip Unal and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical research in pediatric endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.1field-weighted citation impact, top 56% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. NovelFrontiers in genetics · 2024
    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

14 authors at 7 institutions in 3 countries.

Maha SherifUniversity College London, Institute of Child Health, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, London, United KingdomORCID 0000-0002-7807-2616
Hüseyin DemirbilekUniversity College London, Institute of Child Health, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, London, United KingdomORCID 0000-0001-6374-5884
Atilla ÇayırRegional Training and Research Hospital, Clinic of Paediatric Endocrinology, Erzurum, TurkeyORCID 0000-0001-9776-555X
Sophia TahirUniversity College London, Institute of Child Health, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, London, United KingdomORCID 0000-0002-7846-9285
Büşra ÇavdarlıAnkara City Hospital, Clinic of Medical Genetics, Ankara, TurkeyORCID 0000-0002-0953-6210
Meliha DemiralGazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0002-0535-4954
Ayşe Nurcan CebeciDerince Training and Research Hospital, Clinic of Paediatric Endocrinology, Kocaeli, TurkeyORCID 0000-0001-8129-9056
Doğuş VurallıHacettepe University Faculty of Medicine, Department of Pediatric Endocrinology, Ankara, TurkeyORCID 0000-0002-4011-2299
Sofia Asim RahmanUniversity College London, Institute of Child Health, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, London, United KingdomORCID 0000-0001-7504-8461
Edip UnalGazi Yaşargil Training and Research Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0002-9809-0977
Gönül BüyükyılmazAnkara City Hospital, Clinic of Pediatric Endocrinology, Ankara, TurkeyORCID 0000-0001-7888-7295
Rıza Taner BaranDiyarbakır Children’s Hospital, Clinic of Paediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0003-3776-9975
Mehmet Nuri ÖzbekDiyarbakır Children’s Hospital, Clinic of Paediatric Endocrinology, Diyarbakır, TurkeyORCID 0000-0002-3203-741X
Khalid HussainUniversity College London, Institute of Child Health, Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, London, United KingdomORCID 0000-0002-5480-7112
Gaziantep Children's Hospital · TRUniversity College London · GBDiyarbakır Gazi Yaşargil Eğitim ve Araştırma Hastanesi · TRMemorial Ankara Hospital · TRErzurum Regional Training and Research Hospital · TRHacettepe University · TRQatar Airways (Qatar) · QA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Objective: Bi-allelic mutations in the Methods: Four unrelated consanguineous Turkish families, including seven affected children, and their unaffected parents and siblings were evaluated. Homozygosity mapping was performed, followed by whole-exome sequencing of Results: Homozygosity mapping confirmed shared homozygous regions on chromosome 4 (chr4p16.1) between the affected individuals, that was absent in their unaffected siblings. Exome sequencing identified three novel (c.1215T>A, c.554G>A, c.1525_1540dup) and one known (c.1522_1523delTA) mutations in Conclusion: Our study expands the mutation spectrum of

Indexed as

AdolescentAdultChildConsanguinityFemaleHumansMaleMembrane ProteinsPedigreeTurkeyWolfram SyndromeYoung AdultMembrane Proteinswolframin proteindiabetes insipidusdiabetes mellitusoptic atrophysensorineural deafnessWFS1Wolfram syndrome

Identifiers

PMID32938580
PMCPMC7947724
OpenAlexW3083904719

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.