ArticleBrazilian journal of cardiovascular surgery2025
Identification of TGFBR1 Gene Variants in Two Chinese Pedigrees with Loeys-Dietz Syndrome.
Article in Brazilian journal of cardiovascular surgery, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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.
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.
Who cites it
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo investigate a precise treatment and related gene variants in some Loeys-Dietz syndrome (LDS) patients with vascular disease.
methodsTwo probands (JX001-II1 and JX002-II1) diagnosed with LDS and their families were recruited. Routine blood test, antiphospholipid antibodies, immune globulins, nuclear antibodies (ANAs) and biochemical tests, and computed tomography angiography (CTA) were performed for probands. Deoxyribonucleic acid was collected from the two families and was sequenced by the next-generation sequencing employing the Ion Torrent platform (Life Technologies); the variants were confirmed by Sanger sequencing.
resultsTwo probands' antiphospholipid antibodies, immune globulins, and ANAs were near normal. CTA showed that both probands had an LDS patient typical arterial change: aortic aneurysm. Genetic testing of the 10 LDS-associated genes in the two probands showed that c.605C>T (JX001-II1) and c.679G>A (JX002-II1) variants were both positioned in exon 1 of TGFBR1 and it results in the substitution of highly conserved 202 alanine (Ala) for valine (Val) ( P. Ala 202Val, JX001-II1) and 227 glutamic acids (Glu) for lysine (Lys) ( P. Glu 227Lys, JX002-II1). However, the parents of both patients did not have similar symptoms and did not carry such gene variants. Proband 1 (JX001-II1) died unexpectedly during the operation preparations, whereas proband 2 (JX002-II1) underwent two operations, and the patient is currently in excellent health.
conclusionThe two TGFBR1 gene variants may be a primary genetic cause of LDS. The results expand the TGFBR1 variant spectrum. Endovascular surgery can be a feasible option for LDS patients.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.