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Exact(4)
A mutation or deficiency in LIF is associated with embryo dormancy and pregnancy loss.
As a result, mutation or deficiency of BRCA1 leads to stimulated IGF-I activity and, consequently, increased cell proliferation.
A mutation or deficiency in tumor suppressor genes (TSGs) is critical for the multi-step development and progression of human malignancies.
Moreover, there is evidence that MBL mutation or deficiency is an additive risk factor for susceptibility to autoimmune disease, such as systemic lupus erythematosus and rheumatoid arthritis [ 5- 7].
Similar(56)
The nature of the mutations (point mutation, inversion or deficiency) and the breakpoints of the deficiencies are listed in each table.
Furthermore, our data support that Nurr1 mutations or deficiency could be a potential genetic predisposition which may lead to higher vulnerability in some individuals.
Because of the structural defects that accompany Rds mutations or deficiency, rescue of the disease phenotype heretofore has been particularly difficult [29] [31].
OPA1 mutations or deficiency impair mitochondrial fusion that results in fragmented mitochondria and apoptotic cell death in many cell types.
Membralin mutations or deficiency in mouse models induces ER stress, rendering neurons more vulnerable to cell death.
These enzymes play a central role in brain function since mutations or deficiency in SMases leads to severe neurodegenerative disorders [4].
The LSDs are a group of rare inherited metabolic disorders, which result from lysosomal dysfunction that stems from mutations or deficiency of a single lysosomal enzyme.
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