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Recent Advances in Autism Spectrum Disorders: Applications of Whole Exome Sequencing Technology
Elif Funda Sener,Halit Canatan,Yusuf Ozkul 대한신경정신의학회 2016 PSYCHIATRY INVESTIGATION Vol.13 No.3
Autism spectrum disorders (ASD) is characterized by three core symptoms with impaired reciprocal social interaction and communication, a pattern of repetitive behavior and/or restricted interests in early childhood. The prevalence is higher in male children than in female children. As a complex neurodevelopmental disorder, the phenotype and severity of autism are extremely heterogeneous with differences from one patient to another. Genetics has a key role in the etiology of autism. Environmental factors are also interacting with the genetic profile and cause abnormal changes in neuronal development, brain growth, and functional connectivity. The term of exome represents less than 1% of the human genome, but contains 85% of known disease-causing variants. Whole-exome sequencing (WES) is an application of the next generation sequencing technology to determine the variations of all coding regions, or exons of known genes. For this reason, WES has been extensively used for clinical studies in the recent years. WES has achieved great success in the past years for identifying Mendelian disease genes. This review evaluates the potential of current findings in ASD for application in next generation sequencing technology, particularly WES. WES and whole-genome sequencing (WGS) approaches may lead to the discovery of underlying genetic factors for ASD and may thereby identify novel therapeutic targets for this disorder.
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Primary Small Cell Carcinoma of the Lung Presenting with Breast and Skin Metastases
( Fatih Altintoprak ),( Halil Firat Baytekin ),( Canatan Tasdemir ) 대한내과학회 2011 The Korean Journal of Internal Medicine Vol.26 No.2
Cutaneous metastases originating from an internal cancer are relatively uncommon in clinical practice, and metastatic lesions to the breast are rarer than those to the skin. Skin metastases of lung cancer, which may be the first sign of the disease, usually indicate progressive disease and a poor prognosis. We describe a 47-year-old male who presented with recurring masses in the lumbar region bilaterally and the right breast. Immunohistochemical findings and radiological imaging suggested lung cancer. This is the first reported case of small cell lung cancer metastasizing to two separate, uncommon sites, the skin and breast. (Korean J Intern Med 2011;26:207-209)
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Kenan Izgi,Mehmet Fatih Sonmez,Halit Canatan,Banu Iskender 한국조직공학과 재생의학회 2017 조직공학과 재생의학 Vol.14 No.2
Mesenchymal stem cells (MSCs) represent a heterogeneous group of multipotent stem cells that could be found in various somatic tissues. MSCs are defined by molecular and functional features including spindle-shape morphology, adherence to plastic surfaces, expression of specific surface markers and differentiation potential to chondrocytes, adipocytes and osteocytes. The surface markers were proposed to affect the differentiation potential of MSCs by a limited number of studies. Endoglin (CD105) is defined to be a significant marker for osteogenic and chondrogenic differentiation ability of MSCs. Low CD105 expression is associated with increased osteogenic potential while high CD105 expression is correlated with strong chondrogenic potential. Myrtucommulone-A (MC-A) is an active compound with various biological effects on different cell types but its effect on MSC differentiation has not been described yet. In the present study we aimed at investigating the longterm effects of MC-A on hMSCs. MC-A-treatment reduced CD105 expression in distinct human mesenchymal stem cell (hMSC) lines and gave rise to CD105low population but did not change CD44, CD90 or CD73 expression. The decrease in CD105 expression reduced the chondrogenic potential of hMSCs subsequently while adipogenic or osteogenic differentiation was not affected dramatically. MC-A-treatment also suppressed the NF-jB p65 activation which might be responsible for the reduced chondrogenic potential. Our findings suggest thatMC-Acould be used to enrichCD105lowhMSCs without the need for cell sorting or changing culture conditions which could be utilised in targeted differentiation studies.
KCI
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