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Disease-associated gene products

This table indicates the chromosomal location of several genes and the diseases associated with deficient or abnormal production of the gene products. The chromosome involved is indicated by the first number or letter. The other numbers and letters refer to precise localizations, as defined in McKusick VA Mendelian Inheritance in Man, 6th ed. John Hopkins Univ Press, 1983. [Pg.407]

Various disease states are associated with the inappropriate production/overproduction of gene products. Examples include ... [Pg.445]

Cells of patients with Bloom syndrome (BS) have many chromosome breaks and a high frequency of sister chromatid exchanges, perhaps in an effort to correct these breaks. The body is small but well-proportioned.kk A somewhat similar disease, the Werner syndrome (WS), is associated with premature aging.11 The Bloom s protein BLM and the WS gene product WRN are both helicases related to E.coli RecQ. Protein BLM colocalizes with replication protein A as discrete foci in the meiotic synaptonemal complex.1 3 Protein WRN also seems to be associated with DNA replication. Defects... [Pg.1585]

Recent studies have shown that MALT lymphomas are associated with t(l 1 18) (q21 q21) and t(l 14)(q22 q23) (D24, LI 1, L12, R9, Y9, A2, D23,L11, W13). The latter translocation is associated with overexpression of the BCL-10 gene product in the nucleus. Although BCL-10 is expressed in gastric MALT lymphomas without the t(l 14), the presence of the t( 11 18) and expression of BCL-10 is associated with higher stage disease (D23, Lll). Furthermore, MALT lymphomas confined to the stomach (stage IE) with t(ll 18) do not respond to H. pylori eradication (D24, L10, Y7). [Pg.317]

Disease Chromosome Location Repeated Sequence Sex Bias of Parent Contributing Severe Form Normal No. of Copies No. of Copies Associated with the Diseases Gene Product... [Pg.13]


See other pages where Disease-associated gene products is mentioned: [Pg.41]    [Pg.41]    [Pg.528]    [Pg.118]    [Pg.65]    [Pg.252]    [Pg.528]    [Pg.468]    [Pg.57]    [Pg.313]    [Pg.1320]    [Pg.28]    [Pg.65]    [Pg.1]    [Pg.5]    [Pg.159]    [Pg.359]    [Pg.731]    [Pg.335]    [Pg.40]    [Pg.429]    [Pg.431]    [Pg.282]    [Pg.294]    [Pg.57]    [Pg.250]    [Pg.105]    [Pg.320]    [Pg.549]    [Pg.430]    [Pg.22]    [Pg.367]    [Pg.599]    [Pg.600]    [Pg.602]    [Pg.106]    [Pg.349]    [Pg.670]    [Pg.399]    [Pg.313]    [Pg.1320]    [Pg.24]    [Pg.424]   
See also in sourсe #XX -- [ Pg.41 ]




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Associated Diseases

Disease genes

Disease production

Disease-associated protein gene products

Gene disease genes

Gene products, diseases associated with

Gene products, diseases associated with deficiency

Potential disease-associated gene products

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