例句與造句

1. Of the 10 tumors analyzed, no truncating mutations were found in the second or third exons of SFRP1.
2. Genetically, de novo truncating mutations in ASXL1 have been shown to account for approximately 50 % of Bohring Opitz syndrome cases.
3. In the lab, it has been shown that truncated mutations in the ACVR2 gene causes a significant reduction in activin mediated cell signaling.
4. Looking at 7 tumors without the truncating mutation, the retained SFRP1 allele contained an in-frame three-base insertion after nucleotide 37.
5. Homozygous or compound heterozygous mutations are therefore likely subject to differential regulation depending on whether they are double missense, double truncating or mixed missense / truncating mutations.
6. It's difficult to find truncate mutation in a sentence. 用truncate mutation造句挺難的
7. All of them are truncating mutations, resulting in a shorter protein, lacking the regulatory phosphorylatable M motif and / or major binding domains to other sarcomeric proteins.
8. Most truncating mutations of MTM1 cause a severe and early lethal phenotype, while some missense mutations are associated with milder forms and prolonged survival ( up to 54 years ).
9. From whole-genome sequence data, RBCK1, a gene encoding an E3 ubiquitin-protein ligase, was identified as the most likely candidate gene, with two protein-truncating mutations in probands in the first family.
10. According to data from The Cancer Genome Atlas, " CUL4B " is mutated in 21 % of pancreatic carcinomas with a recurring truncating mutation at amino acid 143 . " CUL4B " is also mutated or amplified in 3-5 % of lung cancers.
11. Truncating mutations in dilated cardiomyopathy patients are most commonly found in the A region; although truncations in the upstream I region might be expected to prevent translation of the A region entirely, alternative splicing creates some transcripts that do not encounter the premature stop codon, ameliorating its effect.
12. Up to 2010 twenty distinct mutations have been reported, including three missense mutations ( R402Q; S558W; K748E ), four truncating mutations ( Y530X; R656X; 806delC; 1620delC ), one in-frame deletion ( 2020 _ 2022delGAG ) and the first reported splice site mutation ( 1935?A?! C ).
13. In contrast to truncating mutations, missense mutations lead, in most of the cases ( although difficult to specifically detect ), to stable mutant cMyBP-Cs that are, at least in part, incorporated into the sarcomere and could act as poison polypeptides on the structure and / or function of the sarcomere.
14. Dr . Matthew Bainbridge has identified a de novo truncating mutation in ASXL3 ( KIAA1713 ) that is plausibly causative for a patient presenting with intellectual disability, global developmental delay, hypotonia, psychomotor retardation, childhood apraxia of speech ( non verbal ), strabismus, stereotypic behaviors, feeding difficulties, severe reflux, short nose with anteverted nares, low set ears, and a prominent forehead.