Matches in SemOpenAlex for { <https://semopenalex.org/work/W4295998051> ?p ?o ?g. }
Showing items 1 to 100 of
100
with 100 items per page.
- W4295998051 abstract "Abstract Background: Spinal muscular atrophy (SMA) is a rare autosomal recessive inherited neuromuscular disease with about 1:6000 to 1:10,000 in newborns. Objectives: To evaluate the copy number variation of SMN1 and SMN2 genes between two generations, we experimented on 221 core families, including 221 patients and their parents (n=442). Materials & methods : Before sample collection, all cases were subjected to clinical diagnosis, electromyography, and nerve conduction velocity test. Moreover, DNA samples were analyzed by multiplex ligation-dependent probe amplification. Results: In this study, 92.7% of patients' SMN1 deletions were homozygous, whereas 7.3% of the SMN1 deletions were heterozygous. On the other hand, 92.9% of the parents had one copy of SMN1 , and the remaining had two copies of SMN1 . Since SMN2 has a disease-modifying role, accurate determination of SMN2 copy number can be helpful in the case of prognosis and genotype-phenotype correlation. The average SMN copies from parents represent the copy number in the parent's generation. Evaluations showed a negative correlation between the copy number of SMN1 and SMN2 in children and their parents. Besides, when the average of SMN2 copy numbers was two in the parent's generation, 81% of the children were type I, and the rest were Type II/III. Also, in cases with three or more SMN2 copy numbers in parents, approximately 90% of children were either type II or III. Conclusion: Accordingly, there is a possibility that the SMN2 copy numbers in parents could predict the disease severity in the next generation." @default.
- W4295998051 created "2022-09-16" @default.
- W4295998051 creator A5022705706 @default.
- W4295998051 creator A5028254372 @default.
- W4295998051 creator A5041724152 @default.
- W4295998051 creator A5045481215 @default.
- W4295998051 creator A5046946399 @default.
- W4295998051 creator A5053310235 @default.
- W4295998051 creator A5060223214 @default.
- W4295998051 creator A5086134278 @default.
- W4295998051 creator A5087423194 @default.
- W4295998051 date "2022-09-07" @default.
- W4295998051 modified "2023-09-27" @default.
- W4295998051 title "Copy number analysis in a large-scale study of spinal muscular atrophy patients between two continuous generations in Iran" @default.
- W4295998051 cites W1978938547 @default.
- W4295998051 cites W1986164507 @default.
- W4295998051 cites W1991509584 @default.
- W4295998051 cites W2005941403 @default.
- W4295998051 cites W2016207006 @default.
- W4295998051 cites W2019839108 @default.
- W4295998051 cites W2025915359 @default.
- W4295998051 cites W2029570500 @default.
- W4295998051 cites W2034435537 @default.
- W4295998051 cites W2054236204 @default.
- W4295998051 cites W2056530511 @default.
- W4295998051 cites W2058262490 @default.
- W4295998051 cites W2067628329 @default.
- W4295998051 cites W2075859954 @default.
- W4295998051 cites W2099624163 @default.
- W4295998051 cites W2109983978 @default.
- W4295998051 cites W2119820612 @default.
- W4295998051 cites W2136930242 @default.
- W4295998051 cites W2143596601 @default.
- W4295998051 cites W2158559507 @default.
- W4295998051 cites W2165235225 @default.
- W4295998051 cites W2725962236 @default.
- W4295998051 cites W2733659072 @default.
- W4295998051 cites W2787482106 @default.
- W4295998051 cites W2963331372 @default.
- W4295998051 cites W3006421217 @default.
- W4295998051 cites W3024299498 @default.
- W4295998051 cites W3035412127 @default.
- W4295998051 cites W3185307150 @default.
- W4295998051 doi "https://doi.org/10.21203/rs.3.rs-2029090/v1" @default.
- W4295998051 hasPublicationYear "2022" @default.
- W4295998051 type Work @default.
- W4295998051 citedByCount "0" @default.
- W4295998051 crossrefType "posted-content" @default.
- W4295998051 hasAuthorship W4295998051A5022705706 @default.
- W4295998051 hasAuthorship W4295998051A5028254372 @default.
- W4295998051 hasAuthorship W4295998051A5041724152 @default.
- W4295998051 hasAuthorship W4295998051A5045481215 @default.
- W4295998051 hasAuthorship W4295998051A5046946399 @default.
- W4295998051 hasAuthorship W4295998051A5053310235 @default.
- W4295998051 hasAuthorship W4295998051A5060223214 @default.
- W4295998051 hasAuthorship W4295998051A5086134278 @default.
- W4295998051 hasAuthorship W4295998051A5087423194 @default.
- W4295998051 hasBestOaLocation W42959980511 @default.
- W4295998051 hasConcept C104317684 @default.
- W4295998051 hasConcept C120599132 @default.
- W4295998051 hasConcept C120821319 @default.
- W4295998051 hasConcept C126322002 @default.
- W4295998051 hasConcept C141231307 @default.
- W4295998051 hasConcept C2776356578 @default.
- W4295998051 hasConcept C2778045022 @default.
- W4295998051 hasConcept C2778558090 @default.
- W4295998051 hasConcept C2779134260 @default.
- W4295998051 hasConcept C36823959 @default.
- W4295998051 hasConcept C54355233 @default.
- W4295998051 hasConcept C71924100 @default.
- W4295998051 hasConcept C86803240 @default.
- W4295998051 hasConceptScore W4295998051C104317684 @default.
- W4295998051 hasConceptScore W4295998051C120599132 @default.
- W4295998051 hasConceptScore W4295998051C120821319 @default.
- W4295998051 hasConceptScore W4295998051C126322002 @default.
- W4295998051 hasConceptScore W4295998051C141231307 @default.
- W4295998051 hasConceptScore W4295998051C2776356578 @default.
- W4295998051 hasConceptScore W4295998051C2778045022 @default.
- W4295998051 hasConceptScore W4295998051C2778558090 @default.
- W4295998051 hasConceptScore W4295998051C2779134260 @default.
- W4295998051 hasConceptScore W4295998051C36823959 @default.
- W4295998051 hasConceptScore W4295998051C54355233 @default.
- W4295998051 hasConceptScore W4295998051C71924100 @default.
- W4295998051 hasConceptScore W4295998051C86803240 @default.
- W4295998051 hasLocation W42959980511 @default.
- W4295998051 hasOpenAccess W4295998051 @default.
- W4295998051 hasPrimaryLocation W42959980511 @default.
- W4295998051 hasRelatedWork W2031172712 @default.
- W4295998051 hasRelatedWork W2118917623 @default.
- W4295998051 hasRelatedWork W2360129266 @default.
- W4295998051 hasRelatedWork W2370339963 @default.
- W4295998051 hasRelatedWork W2800013712 @default.
- W4295998051 hasRelatedWork W2951517220 @default.
- W4295998051 hasRelatedWork W2953186296 @default.
- W4295998051 hasRelatedWork W3149521924 @default.
- W4295998051 hasRelatedWork W4295998051 @default.
- W4295998051 hasRelatedWork W2231512280 @default.
- W4295998051 isParatext "false" @default.
- W4295998051 isRetracted "false" @default.
- W4295998051 workType "article" @default.