Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Ying, Jianming; Dietz, Harry C.; Montgomery, Robert A.; Bell, William R.; McIntosh, Iain; Coller, Barry S.; Bray, Paul F.

doi:10.1172/jci118973

Cited by 60 publications

(42 citation statements)

References 72 publications

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“…Furthermore, recent studies have demonstrated that sequences not located at the intron/exon borders, regulate the RNA splicing process. 28 These include several silent exonic polymorphisms [29][30][31][32][33] which do not confer an amino acid change.…”

Section: Discussionmentioning

confidence: 99%

Association between variants at the GABAAβ2, GABAAα6 and GABAAγ2 gene cluster and alcohol dependence in a Scottish population

Loh

Smith

Murray³

et al. 1999

Mol Psychiatry

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0.013). Significant associations were also found between the alcohol-dependent subjects with Korsakoff's psychosis and the BanI RFLP (P = 0.039) and the AlwNI RFLP (P = 0.003). Haplotype analysis also provided evidence of association when all alcohol-dependent subjects (P = 0.013) and the subjects with Korsakoff's psychosis (P = 0.007) were compared with controls. Our findings provide evidence for a role for the GABA A receptor subunit cluster on chromosome 5q33 in susceptibility to the alcohol dependence syndrome and Korsakoff's psychosis.

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Section: Discussionmentioning

confidence: 99%

Association between variants at the GABAAβ2, GABAAα6 and GABAAγ2 gene cluster and alcohol dependence in a Scottish population

Loh

Smith

Murray³

et al. 1999

Mol Psychiatry

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“…There is growing evidences for involvement of genetic polymorphisms in complex disorders as they can affect the functions of genes by altering characteristics such as the expression level, altering DNA binding sites, mRNA stabilization, splicing and folding (Jin et al, 1996;Duan et al, 2003;Chen et al, 2006). For the rs10,046 polymorphism of CYP19gene, the exact functional activity is not clearly understood, and it seems not to have an autonomous function, but it has been claimed that in conjunction with other polymorphisms, the rs10,046 polymorphism may influence the levels of mRNA and its stability (Bampali et al, 2015), so it can be associated with altered levels of the aromatase enzyme and affected estrogen metabolism.…”

Section: Discussionmentioning

confidence: 99%

Analysis of CYP17, CYP19 and CYP1A1 Gene Polymorphisms in Iranian Women with Breast Cancer

Farzaneh¹,

Noghabaei²,

Barouti³

et al. 2016

Asian Pacific Journal of Cancer Prevention

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Breast cancer (BC) is the most common cancer and the second cause of mortality in women all around the world. It is caused by several factors including genetic determinants, so that both genetic susceptibility factors and environmental factors are involved in the etiology. Significance of genes functioning in steroid hormone synthesis and metabolism are well established in breast cancer susceptibility. In this study, 134 women with BC and 135 normal controls were analyzed for their genotypes for the polymorphisms, rs743572, rs10046 and rs4646903, resided in CYP17, CYP19 and CYP1A1 genes, respectively. Significant differences in distributions of allele and genotype frequencies were found for the rs10046 polymorphism in CYP19 (p-value=0.01, OR (CI 95%) =1.59 (1.1-2.3), p-value=0.04, OR (CI 95%) =1.7 (1.1-2.5) respectively). For rs743,572 and rs 4646903 polymorphisms, no significant associations were observed. A significant association was observed between the rs10046 polymorphism of the CYP19gene and breast cancer in Iranian patients. Due to inconsistent previous results, more studies in different populations with larger sample sizes are indicated.

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“…A number of these mutations do not alter consensus splice sites or generate missense or nonsense mutations, yet do affect splice site selection (32,33). These mutations may cause skipping of exon(s) by disrupting the splicing enhancer(s).…”

Section: Discussionmentioning

confidence: 99%

Treatment of spinal muscular atrophy by sodium butyrate

Chang

Hsieh-Li

Jong

et al. 2001

Proc. Natl. Acad. Sci. U.S.A.

369

271

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Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of the anterior horn cells of the spinal cord, leading to muscular paralysis with muscular atrophy. No effective treatment of this disorder is presently available. Studies of the correlation between disease severity and the amount of survival motor neuron (SMN) protein have shown an inverse relationship. We report that sodium butyrate effectively increases the amount of exon 7-containing SMN protein in SMA lymphoid cell lines by changing the alternative splicing pattern of exon 7 in the SMN2 gene. In vivo, sodium butyrate treatment of SMA-like mice resulted in increased expression of SMN protein in motor neurons of the spinal cord and resulted in significant improvement of SMA clinical symptoms. Oral administration of sodium butyrate to intercrosses of heterozygous pregnant knockout-transgenic SMA-like mice decreased the birth rate of severe types of SMA-like mice, and SMA symptoms were ameliorated for all three types of SMA-like mice. These results suggest that sodium butyrate may be an effective drug for the treatment of human SMA patients. P roximal spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by degeneration of anterior horn cells of the spinal cord, leading to muscular paralysis with muscular atrophy. Clinical diagnosis of SMA is based on findings of progressive symmetric weakness and atrophy of the proximal muscles. Affected individuals usually are classified into three groups according to the age of onset and progression of the disease. Children with type I SMA are most severely affected and usually have SMA symptoms before the age of 6 months and rarely live beyond 2 years. Type II and type III SMA are milder forms and the age of onset of symptoms varies between 6 months and 17 years. SMA is one of the most common fatal autosomal recessive diseases in children with a carrier rate of 1-2% in the general population and an incidence of 1 in 10,000 newborns (1). No specific treatment is currently available for SMA patients.Two survival motor neuron (SMN) genes (SMN) are typically present on 5q13: SMN1 (also known as SMN T , SMNtel) and SMN2 (also known as SMN C , SMNcen). Loss-of-function mutations of both copies of the telomeric gene, SMN1, are correlated with the development of SMA (2-5). The nearly identical centromeric gene, SMN2, appears to modify disease severity in a dose-dependent manner, as SMN protein levels from this gene are correlated with disease severity (6, 7). However, the expressed amount of intact SMN protein from SMN2 does not provide adequate protection from SMA (8).Although SMN1 and SMN2 encode identical proteins, all three forms of proximal SMA are caused by mutation in the SMN1 gene, but not in the SMN2 gene (2-5). The differences between these highly homologous genes are in their RNA expression patterns (9-12). Most SMN2 transcripts lack exons 3, 5, or most frequently, 7, with only a small amount of full-length mRNA generated. On the other hand, the SMN1 gene...

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Glanzmann thrombasthenia. Cooperation between sequence variants in cis during splice site selection.

Cited by 60 publications

References 72 publications

Association between variants at the GABAAβ2, GABAAα6 and GABAAγ2 gene cluster and alcohol dependence in a Scottish population

Association between variants at the GABAAβ2, GABAAα6 and GABAAγ2 gene cluster and alcohol dependence in a Scottish population

Analysis of CYP17, CYP19 and CYP1A1 Gene Polymorphisms in Iranian Women with Breast Cancer

Treatment of spinal muscular atrophy by sodium butyrate

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