Evidence map›Paper›PMID 38733412›Full record

ArticleCalcified tissue international2024

Effect of Allele-Specific Clcn7

Suzanne Saffie-Siebert, Imranul Alam, Flavia Maria Sutera, Ashkan Dehsorkhi, Nissim Torabi-Pour, Paulina Baran-Rachwalska, Luca Iamartino, Anna Teti, Antonio Maurizi, Rita L Gerard-O'Riley and 2 more

Abstract read
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In one paragraph

Article in Calcified tissue international, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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

4 citing papers in PubMed.

  1. HR-pQCT measures of bone in autosomal dominant osteopetrosis highly correlate with fractures and inversely correlate with bone resorption markers.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
    Article
  2. Review
  3. Fractures are highly correlated with bone density and inversely correlated with bone turnover markers in autosomal dominant osteopetrosis.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2026
    Article
  4. 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

12 authors.

Suzanne Saffie-SiebertSiSaf Ltd, Guildford, Surrey, GU2 7RE, UK. saffie@sisaf.com.
Imranul AlamDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA. ialam@iu.edu.ORCID 0000-0002-8914-0610
Flavia Maria SuteraSiSaf Ltd, Guildford, Surrey, GU2 7RE, UK.
Ashkan DehsorkhiSiSaf Ltd, Guildford, Surrey, GU2 7RE, UK.
Nissim Torabi-PourSiSaf Ltd, Guildford, Surrey, GU2 7RE, UK.
Paulina Baran-RachwalskaSiSaf Ltd, Guildford, Surrey, GU2 7RE, UK.
Luca IamartinoSiSaf Ltd, Guildford, Surrey, GU2 7RE, UK.
Anna TetiDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy.
Antonio MauriziDepartment of Biotechnological and Applied Clinical Sciences, University of L'Aquila, 67100, L'Aquila, Italy.
Rita L Gerard-O'RileyDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
Dena ActonDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.
Michael J EconsDepartment of Medicine, Indiana University School of Medicine, Indianapolis, IN, 46202, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal dominant osteopetrosis type 2 (ADO2) is a rare inherited bone disorder characterised by dense but brittle bones. It displays striking phenotypic variability, with the most severe symptoms, including blindness and bone marrow failure. Disease management largely relies on symptomatic treatment since there is no safe and effective treatment. Most ADO2 cases are caused by heterozygous loss-of-function mutations in the CLCN7 gene, which encodes an essential Cl

Indexed as

AllelesChloride ChannelsNanoparticlesOsteopetrosisPhenotypeRNA, Small InterferingAnimalsBone and BonesDisease Models, AnimalMiceChloride ChannelsClcn7 protein, mouseRNA, Small InterferingAutosomal dominant osteopetrosisGene therapySilicon-stabilised hybrid lipid nanoparticlessiRNA

Identifiers

What OpenQuestion holds

Textmetadata
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.