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Goldschmidt (1940) supported the mutationist theory, reducing preadaptations to random micromutations, arguing that only organisms with "chance hereditary mutant combinations for life under changed conditions" (p. 102) could survive in a fluctuating environment.
The major types of amyloidosis, classified on the basis of their precursor protein, include light-chain, senile systemic (wild-type transthyretin), hereditary (mutant transthyretin), and secondary (AA) diseases.
It is likely that an increase in cellular retention of trafficking defective hereditary mutant hERG proteins, through this mechanism, could contribute to the low temperature channel "rescue", in addition to improvements perhaps in folding and trafficking through the ER-Golgi network [ 6, 9, 29, 11].
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Listed are vulnerabilities selective in CDH1−/−-mutant MCF10A and c.1380del CDH1 cells, shared drug classes are highlighted in italics Active in both c.1380delA CDH1 mutant hereditary SB.mhdgc-1 and control CDH1 wild type SB.msgc-1 gastric cancer cells.
In the lung, the two major inherited genetic disorders, cystic fibrosis and AAT deficiency, are conformational disorders that are caused by the hereditary expression of mutant alleles of the cystic fibrosis transmembrane conductance regulator (CFTR) and AAT, respectively [25].
Spongiform encephalopathies such as sporadic and variant Creutzfeldt Jakob disease are neurodegenerative conditions caused by mutant hereditary or transmissible prion proteins.
We are currently only aware of a handful of genes that when mutant cause hereditary cancers.
Furthermore, no patient had a family history of breast cancer or of Li–Fraumeni syndrome (hereditary, and associated with mutant TP53) in their first-degree relatives, and no case of germline mutations in the ATM gene has ever been identified in breast cancer families in Taiwan, so these tumours were most likely sporadic.
Mutations that perturb lymphangiogenic signaling have been found in VEGFR-3 and its ligand VEGF-C; these mutants cause hereditary lymphedema type 1 A and 1D, respectively8, 9. Recently, mutations in the CCBE1 (collagen- and calcium-binding epidermal growth factor domains 1) gene were found in a subset of patients with Hennekam lymphangiectasia-lymphedema syndrome10.
Eyries, M. et al. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension.
In the present study, we identified an ENU-induced mutant mouse with hereditary ventriculomegaly.
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