Evidence map›Paper›PMID 33864587›Full record

ArticleMolecular biology reports2021

Duplex high resolution melting analysis (dHRMA) to detect two hot spot CYP24A1 pathogenic variants (PVs) associated to idiopathic infantile hypercalcemia (IIH).

Maria De Bonis, Elisa De Paolis, Maria Elisabetta Onori, Giorgia Mazzuccato, Antonio Gatto, Pietro Ferrara, Pietro Manuel Ferraro, Andrea Urbani, Angelo Minucci

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

Article in Molecular biology reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0cells of the map it votes in
0citing papers in PubMed
0.1field-weighted citation impact, top 58% of its field
1 · What the graph read from it

What it found

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2 · The registry

The trial behind it

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

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4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

9 authors at 2 institutions in 1 country.

Maria De BonisUOS Diagnostica Molecolare E Genomica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy. maria.debonis@policlinicogemelli.it.ORCID http://orcid.org/0000-0001-5479-2144
Elisa De PaolisUOS Diagnostica Molecolare E Genomica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Maria Elisabetta OnoriUOS Diagnostica Molecolare E Genomica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Giorgia MazzuccatoUOS Diagnostica Molecolare E Genomica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Antonio GattoUOC Pediatria, Dipartimento Scienze della Salute della Donna, del Bambino E Di Sanità Pubblica- Area Salute del Bambino, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Pietro FerraraUOC Pediatria, Dipartimento Scienze della Salute della Donna, del Bambino E Di Sanità Pubblica- Area Salute del Bambino, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Pietro Manuel FerraroUOC Nefrologia, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Andrea UrbaniUOS Diagnostica Molecolare E Genomica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Angelo MinucciUOS Diagnostica Molecolare E Genomica, Fondazione Policlinico Universitario A. Gemelli-IRCCS, Largo Agostino Gemelli, 00168, Rome, Italy.
Agostino Gemelli University Polyclinic · ITUniversità Cattolica del Sacro Cuore · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Pathogenic variants (PVs) in CYP24A1 gene are associated with Idiopathic Infantile Hypercalcemia disease (IIH). The identification of CYP24A1 PVs can be a useful tool for the improvement of target therapeutic strategies. Aim of this study is to set up a rapid and inexpensive High Resolution Melting Analysis (HRMA)-based method for the simultaneous genotyping of two hot spot PVs in CYP24A1 gene, involved in IIH. A duplex-HRMA (dHRMA) was designed in order to detect simultaneously CYP24A1 c.428_430delAAG, p.(Glu143del) (rs777676129) and c.1186C > T, p.(Arg396Trp) (rs114368325), in peculiar cases addressed to our Laboratory. dHRMA was able to identify clearly and simultaneously both hot spot CYP24A1 PVs evaluating melting curve shape and melting temperature (T

Indexed as

MutationChildDNA Mutational AnalysisHumansHypercalcemiaInfant, Newborn, DiseasesMaleMetabolism, Inborn ErrorsSensitivity and SpecificityVitamin D3 24-HydroxylaseCYP24A1 protein, humanVitamin D3 24-HydroxylaseCYP24A1 geneDuplex assayHigh resolution melting analysisIdiopathic Infantile Hypercalcemia

Identifiers

PMID33864587
PMCPMC8172411
OpenAlexW3153452774

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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.