"Bloom Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
| Descriptor ID |
D001816
|
| MeSH Number(s) |
C16.131.077.137 C18.452.284.100
|
| Concept/Terms |
Bloom Syndrome- Bloom Syndrome
- Syndrome, Bloom
- Bloom-Torre-Machacek Syndrome
- Bloom Torre Machacek Syndrome
- Syndrome, Bloom-Torre-Machacek
- Congenital Telangiectatic Erythema
- Bloom's Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Bloom Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Bloom Syndrome".
This graph shows the total number of publications written about "Bloom Syndrome" by people in this website by year, and whether "Bloom Syndrome" was a major or minor topic of these publications.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2004 | 2 | 0 | 2 |
| 2005 | 1 | 0 | 1 |
| 2006 | 0 | 1 | 1 |
| 2017 | 0 | 1 | 1 |
| 2021 | 1 | 0 | 1 |
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Below are the most recent publications written about "Bloom Syndrome" by people in Profiles.
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Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation. Cold Spring Harb Mol Case Stud. 2021 04; 7(2).
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Recommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders. Clin Cancer Res. 2017 Jun 01; 23(11):e23-e31.
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MPS1-dependent mitotic BLM phosphorylation is important for chromosome stability. Proc Natl Acad Sci U S A. 2006 Aug 01; 103(31):11485-90.
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Tumor suppressor gene identification using retroviral insertional mutagenesis in Blm-deficient mice. EMBO J. 2006 Jul 26; 25(14):3422-31.
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BLAP75/RMI1 promotes the BLM-dependent dissolution of homologous recombination intermediates. Proc Natl Acad Sci U S A. 2006 Mar 14; 103(11):4068-73.
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BLAP75, an essential component of Bloom's syndrome protein complexes that maintain genome integrity. EMBO J. 2005 Apr 06; 24(7):1465-76.
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Telomere shortening exposes functions for the mouse Werner and Bloom syndrome genes. Mol Cell Biol. 2004 Oct; 24(19):8437-46.
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Functional interaction between BLM helicase and 53BP1 in a Chk1-mediated pathway during S-phase arrest. J Cell Biol. 2004 Sep 13; 166(6):801-13.
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Growth deficiency and malnutrition in Bloom syndrome. J Pediatr. 1999 Apr; 134(4):472-9.
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The coding region of the Bloom syndrome BLM gene and of the CBL proto-oncogene is mutated in genetically unstable sporadic gastrointestinal tumors. Cancer Res. 1998 Sep 01; 58(17):3777-81.