ReviewInternational journal of hematology2013
Inherited bone marrow failure syndromes in 2012.
Review in International journal of hematology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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
17 citing papers in PubMed, 30 citations in OpenAlex.
- Clinical and genetic features of dyskeratosis congenita, cryptic dyskeratosis congenita, and Hoyeraal-Hreidarsson syndrome in Japan.International journal of hematology · 2015Trial
- Dyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.American journal of cancer research · 2026Review
- Autoimmune Neutropenia and Immune-Dysregulation in a Patient Carrying aInternational journal of molecular sciences · 2022Article
- Recent advances in hematopoietic cell transplantation for inherited bone marrow failure syndromes.International journal of hematology · 2022Review
- The Role of NCancers · 2022Review
- [Clinical features, diagnosis, and treatment of Chinese children with Shwachman-Diamond syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2020Article
- The histopathology of bone marrow failure in children.Journal of clinical and experimental hematopathology : JCEH · 2018Review
- Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- [Clinical features and pathogenic gene detection of Diamond-Blackfan anemia].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2017Article
- Phenotypes and genotypes of the chromosomal instability syndromes.Translational pediatrics · 2016Review
- FANCI is a negative regulator of Akt activation.Cell cycle (Georgetown, Tex.) · 2016Article
- Defective endomitosis during megakaryopoiesis leads to thrombocytopenia in Fanca-/- mice.Blood · 2014Article
- Advances in genetic studies of inherited bone marrow failure syndromes and their associated malignancies.Translational pediatrics · 2014Review
- The diagnosis and treatment of dyskeratosis congenita: a review.Journal of blood medicine · 2014Review
- Border between aplastic anemia and myelodysplastic syndrome.International journal of hematology · 2013Review
- Fatal Hemorrhagic Gastrointestinal Angioectasia after Bone Marrow Transplantation for Dyskeratosis Congenita.Internal medicine (Tokyo, Japan)Article
- Case 1: A newborn with pancytopenia.Paediatrics & child healthArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited bone marrow failure syndromes (CBMFS) are a heterogeneous group of genetic disorders characterized by bone marrow failure, congenital anomalies, and an increased risk of malignant disease. The representative diseases with trilineage involvement are Fanconi anemia and dyskeratosis congenita, while the disease with the single lineage cytopenia is Diamond-Blackfan anemia. Recent advances in our understanding of these diseases have come from the identification of genetic lesions responsible for the disease and their pathways. Although recent studies have identified many causative genes, mutations of these genes have only been found in less than half of the patients. Next-generation sequencing technologies may reveal new causative genes in these patients. Also, induced pluripotent stem cells derived from patients with CBMFS will be useful to study the pathophysiology of the diseases. The only long-term curative treatment for bone marrow failure in patients with inherited bone marrow failure syndromes is allogeneic hematopoietic stem cell transplantation, although this procedure has a risk of severe adverse effects. Multicenter prospective studies are warranted to establish appropriate conditioning regimens aimed at reducing transplant-related mortality.
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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.