Screening of key genes of unruptured intracranial aneurysms by using DNA microarray data analysis techniques

Chen, L.; Fan, Yilin; Wan, Jieqing

doi:10.4238/2014.january.31.2

Cited by 9 publications

(5 citation statements)

References 40 publications

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“…Although no significant vascular abnormality has been evidenced in the patient reported here, nor in her brother, it remains a possibility, as MYL9 expression has been demonstrated in vascular smooth muscle [26,27]. Additional studies are necessary to define a possible vascular manifestation in MMIHS.…”

Section: Discussionmentioning

confidence: 69%

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

et al. 2018

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Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a severe disease characterized by functional obstruction in the urinary and gastrointestinal tract. The molecular basis of this condition started to be defined recently, and the genes related to the syndrome (ACTG2-heterozygous variant in sporadic cases; and MYH11 (myosin heavy chain 11), LMOD1 (leiomodin 1) and MYLK (myosin light chain (MLC) kinase)-autosomal recessive inheritance), encode proteins involved in the smooth muscle contraction, supporting a myopathic basis for the disease. In the present article, we described a family with two affected siblings with MMIHS born to consanguineous parents and the molecular investigation performed to define the genetic etiology. Previous whole exome sequencing of the affected child and parents did not identify a candidate gene for the disease in this family, but now we present a reanalysis of the data that led to the identification of a homozygous deletion encompassing the last exon of MYL9 (myosin regulatory light chain 9) in the affected individual. MYL9 gene encodes a regulatory myosin MLC and the phosphorylation of this protein is a crucial step in the contraction process of smooth muscle cell. Despite the absence of human or animal phenotype related to MYL9, a cause-effect relationship between MYL9 and the MMIHS seems biologically plausible. The present study reveals a strong candidate gene for autosomal recessive forms of MMIHS, expanding the molecular basis of this disease and reinforces the myopathic basis of this condition.

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Section: Discussionmentioning

confidence: 69%

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

et al. 2018

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“…In the label-free proteomic analysis, proteins that play a role in IA pathology were found, which mirrored the results found in previous studies using iTRAQ ( Wang et al, 2016 ). Using a DNA microarray, Chen et al (2014) found that myh11, acta2, mlck, and my19 were differentially expressed genes associated with VSMC contraction ( Chen et al, 2014 ). Our study focused on SMCs and highlighted the impact of losing MLCK on IA formation.…”

Section: Discussionmentioning

confidence: 99%

The Effect of Myosin Light Chain Kinase on the Occurrence and Development of Intracranial Aneurysm

Song

Liu

et al. 2018

Front. Cell. Neurosci.

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Myosin light chain kinase is a key enzyme in smooth muscle cell contraction. However, whether myosin light chain kinase plays a role in the occurrence or development of intracranial aneurysms is not clear. The present study explored the function of myosin light chain kinase in human intracranial aneurysm tissues. Five aneurysm samples and five control samples were collected, and smooth muscle cells (SMCs) were dissociated and cultured. A label-free proteomic analysis was performed to screen the differentially expressed proteins between aneurysm and control samples. The expression and function of myosin light chain kinase in aneurysms were examined. We found that 180 proteins were differentially expressed between the aneurysm and control samples, among which 88 were increased and 92 (including myosin light chain kinase) were decreased in aneurysms compared to control tissues. In a model of the inflammatory environment, contractility was weakened and apoptosis was increased in aneurysm SMCs compared to human brain SMCs (p < 0.05). The knock down of myosin light chain kinase in human brain SMCs caused effects similar to those observed in aneurysm SMCs. These results indicated that myosin light chain kinase plays an important role in maintaining smooth muscle contractility, cell survival and inflammation tolerance.

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“…Along with the development of bioinformatic tools appeared a new type of study presenting re-analyzed data from available datasets, including expression data from the Gene Expression Omnibus (GEO). Approximately one third of these published secondary analyses utilized a single dataset [ 58 , 59 , 60 , 61 , 62 , 63 , 64 , 65 , 66 ] and two thirds leveraged data from two to eight datasets [ 67 , 68 , 69 , 70 , 71 , 72 , 73 , 74 , 75 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 ]. These studies did not provide any new additional clinical data but rather aimed to deepen the insight into molecular mechanisms of the IA pathophysiology by revealing key regulatory networks and interactions between investigated molecules.…”

Section: Studies Based On Existing Datasetsmentioning

confidence: 99%

Transcriptomic Studies on Intracranial Aneurysms

Morga¹,

Pera

2023

Genes

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Intracranial aneurysm (IA) is a relatively common vascular malformation of an intracranial artery. In most cases, its presence is asymptomatic, but IA rupture causing subarachnoid hemorrhage is a life-threating condition with very high mortality and disability rates. Despite intensive studies, molecular mechanisms underlying the pathophysiology of IA formation, growth, and rupture remain poorly understood. There are no specific biomarkers of IA presence or rupture. Analysis of expression of mRNA and other RNA types offers a deeper insight into IA pathobiology. Here, we present results of published human studies on IA-focused transcriptomics.

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Screening of key genes of unruptured intracranial aneurysms by using DNA microarray data analysis techniques

Cited by 9 publications

References 40 publications

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

Homozygous deletion in MYL9 expands the molecular basis of megacystis–microcolon–intestinal hypoperistalsis syndrome

The Effect of Myosin Light Chain Kinase on the Occurrence and Development of Intracranial Aneurysm

Transcriptomic Studies on Intracranial Aneurysms

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