Evidence map›Paper›PMID 38139117›Full record

ArticleInternational journal of molecular sciences2023

A Novel Heterozygous Mutation c.1627G>T (p.Gly543Cys) in the

Francesca Giusti, Francesca Marini, Hatim Al-Alwani, Elena Marasco, Paolo Garagnani, Aliya A Khan, Maria Luisa Brandi

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

Article in International journal of molecular sciences, 2023. 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
1.6field-weighted citation impact, top 16% 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

4 citing papers in PubMed, 8 citations in OpenAlex.

  1. Article
  2. Identification of a Novel HomozygousInternational journal of molecular sciences · 2025
    Article
  3. Article
  4. Review
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

7 authors at 4 institutions in 2 countries.

Francesca GiustiDonatello Bone Clinic, Villa Donatello Hospital, 50019 Sesto Fiorentino, Italy.ORCID 0000-0002-8576-9606
Francesca MariniFondazione FIRMO Onlus, Italian Foundation for the Research on Bone Diseases, 50129 Florence, Italy.ORCID 0000-0002-3678-4922
Hatim Al-AlwaniDivisions of Endocrinology and Metabolism and Geriatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.ORCID 0000-0001-9036-7903
Elena MarascoPersonal Genomics SRL, 37136 Verona, Italy.
Paolo GaragnaniPersonal Genomics SRL, 37136 Verona, Italy.
Aliya A KhanDivisions of Endocrinology and Metabolism and Geriatrics, McMaster University, Hamilton, ON L8S 4L8, Canada.
Maria Luisa BrandiDonatello Bone Clinic, Villa Donatello Hospital, 50019 Sesto Fiorentino, Italy.ORCID 0000-0002-8741-0592
McMaster University · CAAzienda USL di Bologna · ITUniversity of Florence · ITVita-Salute San Raffaele University · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Serum phosphate concentration is regulated by renal phosphate reabsorption and mediated by sodium-phosphate cotransporters. Germline mutations in genes encoding these cotransporters have been associated with clinical phenotypes, variably characterized by hyperphosphaturia, hypophosphatemia, recurrent kidney stones, skeletal demineralization, and early onset osteoporosis. We reported a 33-year-old male patient presenting a history of recurrent nephrolithiasis and early onset osteopenia in the lumbar spine and femur. He was tested, through next generation sequencing (NGS), by using a customized multigenic panel containing 33 genes, whose mutations are known to be responsible for the development of congenital parathyroid diseases. Two further genes,

Indexed as

Familial Hypophosphatemic RicketsNephrolithiasisOsteoporosisAdultGenetic Diseases, X-LinkedHumansHypophosphatemiaMaleMutationPhosphatesRenal InsufficiencyRenal Tubular Transport, Inborn ErrorsSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIaPhosphatesSLC34A1 protein, humanSodiumSodium-Phosphate Cotransporter ProteinsSodium-Phosphate Cotransporter Proteins, Type IIaautosomal dominant hypophosphatemic nephrolithiasis/osteoporosis type 1bone mass lossgene mutationgenetic testingrecurrent nephrolithiasisSLC34A1 gene

Identifiers

PMID38139117
PMCPMC10744170
OpenAlexW4389600076

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.