Evidence map›Paper›PMID 35047842›Full record

ArticleHGG advances2021

Biallelic variants in

Thao T Tran, Rachel B Keller, Brecht Guillemyn, Melanie Pepin, Jane E Corteville, Samir Khatib, Mohammad-Sadegh Fallah, Sirous Zeinali, Fransiska Malfait, Sofie Symoens and 9 more

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

Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.2field-weighted citation impact, top 19% 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

7 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Review
  5. Update on the Genetics of Osteogenesis Imperfecta.Calcified tissue international · 2024
    Review
  6. Review
  7. Mutant MESD links cellular stress to type I collagen aggregation in osteogenesis imperfecta type XX.Matrix biology : journal of the International Society for Matrix Biology · 2023
    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

19 authors at 6 institutions in 4 countries.

Thao T TranDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
Rachel B KellerDepartment of Pathology, University of Washington, Seattle, WA 98195, USA.
Brecht GuillemynCenter for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
Melanie PepinDepartment of Pathology, University of Washington, Seattle, WA 98195, USA.
Jane E CortevilleDepartment of Reproductive Biology, Case Western Reserve University, Cleveland, OH 44106, USA.
Samir KhatibGMDC Al Quds University, P.O. Box 5100, Abu Dis, Palestine.
Mohammad-Sadegh FallahDepartment of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran.
Sirous ZeinaliDepartment of Medical Genetics, Kawsar Human Genetics Research Center, Tehran, Iran.
Fransiska MalfaitCenter for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
Sofie SymoensCenter for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
Paul CouckeCenter for Medical Genetics Ghent, Ghent University Hospital, Department of Biomolecular Medicine, Ghent, Belgium.
Peter WittersCenter for Metabolic Diseases, University Hospital Leuven, Department of Paediatric Gastroenterology, Hepatology, and Nutrition, Leuven, Belgium.
Elena LevtchenkoUniversity Hospital Leuven, Departments of Pediatric Nephrology and Development and Regeneration, Leuven, Belgium.
Hamideh BagherianGMDC Al Quds University, P.O. Box 5100, Abu Dis, Palestine.
Deborah A NickersonDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Michael J BamshadDepartment of Genome Sciences, University of Washington, Seattle, WA 98195, USA.
Jessica X ChongDepartment of Pediatrics, University of Washington, Seattle, WA 98195, USA.
University of Washington Center for Mendelian Genomics
Peter H ByersDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, WA 98195, USA.
University of Washington · USGhent University Hospital · BEAl-Quds University · PSKU Leuven · BECase Western Reserve University · USPasteur Institute of Iran · IR

Funding

CREB3L1 Is Necessary for Bone Development as Evidenced by Mutations that Cause Osteogenesis ImperfectaF31AR069971 · NIAMS · UNIVERSITY OF WASHINGTON · PI EVANS, RACHEL BETH · 2016 to 2018
$94k
NIAMS NIH HHS F31 AR069971
6 · The paper itself

Abstract

The bone disorder osteogenesis imperfecta (OI) is genetically heterogeneous. Most affected individuals have an autosomal dominant disorder caused by heterozygous variants in either of the type I collagen genes (

Indexed as

KDEL receptorLRP5LRP6OIosteogenesis imperfectaprotein recycling from the Golgi

Identifiers

PMID35047842
PMCPMC8756491
OpenAlexW3194470749

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.