ArticleCold Spring Harbor perspectives in medicine2012
α-Thalassemia, mental retardation, and myelodysplastic syndrome.
Article in Cold Spring Harbor perspectives in medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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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.
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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.
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Who cites it
13 citing papers in PubMed, 64 citations in OpenAlex.
- De-novo ATR-16 syndrome associated with inherited hemoglobin Evanston causing HbH phenotype: a rare occurrence.Annals of hematology · 2024Article
- A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects.Human molecular genetics · 2023Article
- TERRA regulates DNA G-quadruplex formation and ATRX recruitment to chromatin.Nucleic acids research · 2022Article
- Article
- Clinical value of genetic analysis in prenatal diagnosis of short femur.Molecular genetics & genomic medicine · 2019Article
- A diagnosis of discernment: Identifying a novel ATRX mutation in myelodysplastic syndrome with acquired α-thalassemia.Cancer genetics · 2019Article
- Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.Scientific reports · 2017Article
- ATRX and DAXX: Mechanisms and Mutations.Cold Spring Harbor perspectives in medicine · 2017Review
- Molecular nature of alpha-globin genes in the Saudi population.Saudi medical journal · 2015Review
- Article
- Iron deficiency anemia: a common and curable disease.Cold Spring Harbor perspectives in medicine · 2013Review
- Multiple biological functions and pharmacological effects of lycorine.Science China. Chemistry · 2013Review
- ATRX: the case of a peculiar chromatin remodeler.Epigenetics · 2013Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
This article describes three rare syndromes in which the presence of α-thalassemia provided an important clue to the molecular basis of the underlying condition. It exemplifies how rare diseases allied with careful clinical observation can lead to important biological principles. Two of the syndromes, ATR-16 and ATR-X, are characterized by α-thalassemia in association with multiple developmental abnormalities including mental retardation. The third condition, ATMDS, is an acquired disorder in which α-thalassemia arises in the context of myelodysplasia. Intriguingly, mutations in the chromatin remodeling factor, ATRX, are common to both ATR-X syndrome and ATMDS.
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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.