complementation group वाक्य
उदाहरण वाक्य
मोबाइल
- Patients of the " cblE " complementation group of disorders of folate / cobalamin metabolism which results in homocystinuria are defective in reductive activation of methionine synthase.
- The lack of RFX binding activity in complementation group C results from mutations in the RFX5 gene encoding the 75-kD subunit of RFX ( Steimle et al ., 1995 ).
- Mutations in this gene have been linked to bare lymphocyte syndrome type II, complementation group B . Two transcript variants encoding different isoforms have been described for this gene, with only one isoform showing activation activity.
- An inactivating nonsense mutation localized to this gene was observed in a patient with Zellweger syndrome of the complementation group CGD / CG9 . Expression of this gene product morphologically and biochemically restores the formation of new peroxisomes, suggesting a role in peroxisome organization and biogenesis.
- Double-strand breaks occur as intermediates after the crosslinks are removed, and indeed, biallelic mutations in " BRCA1 " have been identified to be responsible for Fanconi Anemia, Complementation Group S, a genetic disease associated with hypersensitivity to DNA crosslinking agents.
- The Fanconi anemia complementation group ( FANC ) currently includes FANCA, FANCB, FANCC, FANCD1 ( also called BRCA2 ), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ ( also called BRIP1 ), FANCL, FANCM and FANCN ( also called PALB2 ).
- Thus, XP can be divided into complementation groups based on which enzyme is defective in the NER pathway Wood and his colleagues reconstituted purified protein components based on the known defective enzymes from defined XP complementation groups to perform NER in vitro and define DNA repair at the molecular level.
- Thus, XP can be divided into complementation groups based on which enzyme is defective in the NER pathway Wood and his colleagues reconstituted purified protein components based on the known defective enzymes from defined XP complementation groups to perform NER in vitro and define DNA repair at the molecular level.
- At least 4 complementation groups have been identified in B-cell lines established from patients with BLS . The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the Xbox of MHC-II promoters.
- At least 4 complementation groups have been identified in B-cell lines established from patients with BLS . The molecular defects in complementation groups B, C, and D all lead to a deficiency in RFX, a nuclear protein complex that binds to the Xbox of MHC-II promoters.
- The Fanconi anemia complementation group ( FANC ) currently includes FANCA, FANCB, FANCC, FANCD1 ( also called BRCA2 ), FANCD2, FANCE, FANCF, FANCG, and FANCL . Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair.
- XP has been classified into eight complementation groups, XP-A to XP-G and XP-V . Cells from XP-A to XP-G patients have defects in the process of nucleotide excision repair ( NER ), which eliminates a wide variety of structurally unrelated lesions, including ultraviolet light ( UV )-induced cyclobutane pyrimidine dimers ( CPD ) and ( 6-4 ) photoproducts, as well as certain chemical adducts.
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