Evidence map›Paper›PMID 34458510›Full record

ArticleBone reports2021

Heterozygous variant in

Christie G Turin, Kyu Sang Joeng, Staci Kallish, Anna Raper, Stephanie Asher, Philippe M Campeau, Amna N Khan, Mona Al Mukaddam

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

Article in Bone reports, 2021. 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 53% 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, 5 citations in OpenAlex.

  1. Review
  2. Review
  3. 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

8 authors at 2 institutions in 2 countries.

Christie G TurinDepartment of Medicine, Division of Endocrinology, Diabetes and Metabolism, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd., 4th floor, Philadelphia, PA 19104, USA.
Kyu Sang JoengMckay Orthopaedic Research Laboratory and Department of Orthopaedic Surgery, Perelman School of Medicine, University of Pennsylvania, 3450 Hamilton Walk, Philadelphia, PA 19104, USA.
Staci KallishDepartment of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, 5100 Silverstein, Philadelphia, PA 19104, USA.
Anna RaperDepartment of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, 5100 Silverstein, Philadelphia, PA 19104, USA.
Stephanie AsherDepartment of Medicine, Division of Translational Medicine and Human Genetics, Perelman School of Medicine, University of Pennsylvania, 3400 Spruce Street, 5100 Silverstein, Philadelphia, PA 19104, USA.
Philippe M CampeauDepartment of Pediatrics, University of Montreal, Montreal, QC, Canada.
Amna N KhanDepartment of Medicine, Division of Endocrinology, Diabetes and Metabolism, Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd., 4th floor, Philadelphia, PA 19104, USA.
Mona Al MukaddamDepartments of Medicine and Orthopaedic Surgery, The Center for Research in FOP and Related Disorders, Perelman School of Medicine, University of Pennsylvania. 3737 Market St., 3rd floor, Philadelphia, PA 19104, USA.
University of Pennsylvania · USUniversité de Montréal · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Osteoporosis is a multifactorial disorder characterized by low bone mass and strength, leading to increased risk of fracture. The WNT pathway plays a critical role in bone remodeling by enhancing osteoblastic differentiation, which promotes bone formation, and inhibiting osteoclastic differentiation, decreasing bone resorption. Therefore, genetic alterations of this pathway will lead to impaired bone homeostasis and could contribute to varying response to treatment. We present the case of two brothers with early osteoporosis who were found to have a heterozygous variant of unknown significance in the

Indexed as

ACMG, American College of Medical GeneticsBMD, Bone mineral densityDXA, dual-energy X-ray absorptiometryEarly osteoporosisFragility fracturesGenetic variantVUS, variant of unknown significanceWNT1 pathway

Identifiers

PMID34458510
PMCPMC8379666
OpenAlexW3194314590

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.