Evidence map›Paper›PMID 37654565›Full record

SynthesisFrontiers in endocrinology2023

Case Report: Calcium sensing receptor gene gain of function mutations: a case series and report of 2 novel mutations.

Dalal S Ali, Francesca Marini, Farah Alsarraf, Hatim Alalwani, Abdulrahman Alamri, Aliya A Khan, Maria Luisa Brandi

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

Synthesis in Frontiers in endocrinology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.2field-weighted citation impact, top 22% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Article
  2. Functional assessment of a constitutively activatingJournal of the Endocrine Society · 2026
    Article
  3. Article
  4. Review
  5. Article
  6. Molecular regulation of calcium-sensing receptor (CaSR)-mediated signaling.Chronic diseases and translational medicine · 2024
    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 1 institution in 1 country.

Dalal S AliDivision of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.
Francesca MariniFondazione Italiana Ricerca sulle Malattie dell'Osso (FIRMO) Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy.
Farah AlsarrafDivision of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.
Hatim AlalwaniDivision of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.
Abdulrahman AlamriDivision of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.
Aliya A KhanDivision of Endocrinology and Metabolism, McMaster University, Hamilton, ON, Canada.
Maria Luisa BrandiFondazione Italiana Ricerca sulle Malattie dell'Osso (FIRMO) Onlus, Italian Foundation for the Research on Bone Diseases, Florence, Italy.
McMaster University · CA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Autosomal dominant hypocalcemia (ADH1) is a genetic disorder characterized by low serum calcium and low or inappropriately normal levels of parathyroid hormone. The disease is caused by a heterozygous activating mutation of the calcium-sensing receptor (

Indexed as

Gain of Function MutationReceptors, Calcium-SensingCalciumHypercalciuriaHypocalcemiaHypoparathyroidismMutationResearchCalciumReceptors, Calcium-SensingADH1autosomal dominant hypocalcemiaCASR genefamilial hypocalcemic hypercalciuriagain of function mutationhypoparathyroidism

Identifiers

PMID37654565
PMCPMC10466028
OpenAlexW4385952997

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.