ArticleScientific reports2014
A broad spectrum of genomic changes in latinamerican patients with EXT1/EXT2-CDG.
Article in Scientific reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled 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.
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
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 18 citations in OpenAlex.
- Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).International journal of molecular sciences · 2022Pooled it
- High-coverage paleo-genome research identifies a pathogenic mutation on EXT1 in a Qing-period Chinese individual with multiple osteochondromas.Molecular genetics and genomics : MGG · 2026Article
- Total Knee Replacement for Varus Deformity in Osteoarthritis of Knee with Multiple Hereditary Exostoses - A Rare Case Report.Journal of orthopaedic case reports · 2025Article
- Genetic counseling for congenital disorders of glycosylation (CDG).Journal of genetic counseling · 2024Article
- Clinical and Genetic Analysis of Multiple Osteochondromas in A Cohort of Argentine Patients.Genes · 2022Article
- Exploration of dilated cardiomyopathy for biomarkers and immune microenvironment: evidence from RNA-seq.BMC cardiovascular disorders · 2022Article
- Hereditary multiple osteochondromas in Jordanian patients: Mutational and immunohistochemical analysis ofOncology letters · 2021Article
- Article
- Ten years of screening for congenital disorders of glycosylation in Argentina: case studies and pitfalls.Pediatric research · 2018Article
- Total knee arthroplasty in patients with multiple hereditary exostoses.Arthroplasty today · 2018Article
- Analysis of mutations in EXT1 and EXT2 in Brazilian patients with multiple osteochondromas.Molecular genetics & genomic medicine · 2018Article
- Identification of a novel frameshift mutation of theOncology letters · 2016Article
- Expanding the Molecular and Clinical Phenotype of SSR4-CDG.Human mutation · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple osteochondromatosis (MO), or EXT1/EXT2-CDG, is an autosomal dominant O-linked glycosylation disorder characterized by the formation of multiple cartilage-capped tumors (osteochondromas). In contrast, solitary osteochondroma (SO) is a non-hereditary condition. EXT1 and EXT2, are tumor suppressor genes that encode glycosyltransferases involved in heparan sulfate elongation. We present the clinical and molecular analysis of 33 unrelated Latin American patients (27 MO and 6 SO). Sixty-three percent of all MO cases presented severe phenotype and two malignant transformations to chondrosarcoma (7%). We found the mutant allele in 78% of MO patients. Ten mutations were novel. The disease-causing mutations remained unknown in 22% of the MO patients and in all SO patients. No second mutational hit was detected in the DNA of the secondary chondrosarcoma from a patient who carried a nonsense EXT1 mutation. Neither EXT1 nor EXT2 protein could be detected in this sample. This is the first Latin American research program on EXT1/EXT2-CDG.
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.