Evidence map›Paper›PMID 39932607›Full record

ArticleIrish journal of medical science2025

Genetic screening in cohort of Egyptian patients with pulmonary arterial hypertension disease.

Samar I E Ayyad, Miral M Refeat, Engy A Ashaat, Abdel-Rahman B Abdel-Ghaffar, Germine M Hamdy

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Irish journal of medical science, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

5 authors.

Samar I E AyyadHelwan Joint Laboratory, Helwan, Egypt.
Miral M RefeatMedical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt. mira_refeat@yahoo.com.
Engy A AshaatClinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, 12622, Egypt.
Abdel-Rahman B Abdel-GhaffarBiochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt.
Germine M HamdyBiochemistry Department, Faculty of Science, Ain Shams University, Cairo, Egypt.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundVariants in the bone morphogenetic protein 2 receptor gene (BMPR2) are the most frequent genetic cause of pulmonary arterial hypertension (PAH). However, correlation of BMPR2 variants and PAH clinical phenotype remains to be elucidated. METHODS AND

resultsThe goal of the present study is to investigate variants of the causative gene (BMPR2) in 25 Egyptian patients clinically pre-diagnosed with PAH symptoms and 10 healthy candidates using Sanger sequencing technique. Three pathogenic heterozygous missense variants have been illustrated in BMPR2 gene, two novel variants (V387E, E481K) in exon 9 and 11 respectively and one previously reported missense variant (C496G) in exon 11. The remaining 22 patients as well as the 10 healthy individuals showed no pathogenic variants.

conclusionFurther studies on larger number of participants, using advanced NGS technique, should be performed to enrich information about genotype/phenotype correlations and incidence of PAH disease among Egyptian population; thus, it would provide families of PAH patients with accurate genetic counseling in order to prevent disease recurrence.

Indexed as

Bone Morphogenetic Protein Receptors, Type IIGenetic TestingHypertension, PulmonaryPulmonary Arterial HypertensionAdolescentAdultCohort StudiesEgyptFemaleHumansMaleMiddle AgedMutation, MissenseYoung AdultBMPR2 protein, humanBone Morphogenetic Protein Receptors, Type IIBMPR2 genePulmonary arterial hypertension diseaseSanger sequencingVariants

Identifiers

PMID39932607
PMCPMC12031933

What Socratic 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 Socratic graph.