Bloom Syndrome

"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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

Below are MeSH descriptors whose meaning is more general than "Bloom Syndrome".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Abnormalities, Multiple [C16.131.077]
Bloom Syndrome [C16.131.077.137]
Nutritional and Metabolic Diseases [C18]
Metabolic Diseases [C18.452]
DNA Repair-Deficiency Disorders [C18.452.284]
Bloom Syndrome [C18.452.284.100]

Below are MeSH descriptors whose meaning is related to "Bloom Syndrome".

Below are MeSH descriptors whose meaning is more specific than "Bloom Syndrome".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Bloom Syndrome" by people in Harvard Catalyst Profiles by year, and whether "Bloom Syndrome" was a major or minor topic of these publication.

Bar chart showing 5 publications over 4 distinct years, with a maximum of 2 publications in 2009

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1997	0	1	1
2001	0	1	1
2003	1	0	1
2009	1	1	2

Below are the most recent publications written about "Bloom Syndrome" by people in Profiles.

Gene expression profile suggesting immunological dysregulation in two Brazilian Bloom's syndrome cases. Mol Genet Genomic Med. 2020 04; 8(4):e1133.

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Bloom syndrome helicase in meiosis: Pro-crossover functions of an anti-crossover protein. Bioessays. 2017 09; 39(9).

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Telomere sister chromatid exchange and the process of aging. Aging (Albany NY). 2010 Oct; 2(10):727-30.

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FANCM: A landing pad for the Fanconi Anemia and Bloom's Syndrome complexes. Mol Cell. 2009 Dec 25; 36(6):916-7.

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Genomic instability resulting from Blm deficiency compromises development, maintenance, and function of the B cell lineage. J Immunol. 2009 Jan 01; 182(1):347-60.

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Werner syndrome protein prevents DNA breaks upon chromatin structure alteration. Aging Cell. 2007 Aug; 6(4):471-81.

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Recql5 and Blm RecQ DNA helicases have nonredundant roles in suppressing crossovers. Mol Cell Biol. 2005 May; 25(9):3431-42.

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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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Chromosome instability and tumor predisposition inversely correlate with BLM protein levels. DNA Repair (Amst). 2003 Dec 09; 2(12):1387-404.

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Heterozygosity for the BLM(Ash) mutation and cancer risk. Cancer Res. 2003 Apr 15; 63(8):1769-71.

View in: PubMed

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Mol Cell Biol
Somat Cell Mol Genet
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Genes Dev
DNA Repair (Amst)
Cancer Res
Bioessays
Aging (Albany NY)