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genetic architecture, epigenetic influence and environment exposure in the pathogenesis of Autism

Science China(Life Sciences) 2015年第10期58卷 958-967页

作者： YU Li WU YiMing WU Bai-Lin Children's Hospital of Fudan University Institutes of Biomedical Science Shanghai Medical College of Fudan University Claritas Genomics Boston Children's Hospital Harvard Medical School

Autism spectrum disorder(ASD) is a spectral neurodevelopment disorder affecting approximately 1% of the population. ASD is characterized by impairments in reciprocal social interaction, communication deficits and restricted patterns of behavior. Multiple factors, including genetic/genomic, epigenetic/epigenomic and environmental, are thought to be necessary for autism development. Recent reviews have provided further insight into the genetic/genomic basis of ASD. It has long been suspected that epigenetic mechanisms, including DNA methylation, chromatin structures and long non-coding RNAs may play important roles in the pathology of ASD. In addition to genetic/genomic alterations and epigenetic/epigenomic influences, environmental exposures have been widely accepted as an important role in autism etiology, among which immune dysregulation and gastrointestinal microbiota are two prominent ones.

关键词： autism spectrum disorder genetic architecture genomie disorder gene mutation copy number variants single nucleotide variants genetic pathways epigenetic influence DNA methylation chromatin remodeling long non-coding RNAs environment exposure immune dysregulation gastrointestinal microbiota

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Overview of genetic signaling pathway interactions within cutaneous malignancies

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Journal of Cancer Metastasis and Treatment 2020年第1期6卷 440-479页

作者： Brittany S.Maner Leonie Dupuis Ashley Su Jeremy J Jueng Tanner P.Harding John Meisenheimer Ⅶ Fahad S.Siddiqui Mia R.Hardack Savina Aneja James A.Solomon Ross University School of Medicine MiramarFL 33027USA Ameriderm Research Ormond BeachFL 32174USA University of Central Florida College of Medicine OrlandoFL 32827USA University of South Florida Morsani College of Medicine TampaFL 33612USA Alabama College of Osteopathic Medicine DothanAL 36303USA Advanced Dermatology and Cosmetic Surgery OrlandoFL 32806USA Florida State University College of Medicine OrlandoFL 32304USA Kansas City University of Medicine&Biosciences Kansas CityMO 64106USA Carle-Illinois College of Medicine UrbanaIL 61820USA

Melanoma and non-melanoma cutaneous malignancies are some of the leading causes of cancer-related death in the United *** melanoma is more known to have a high mortality rate,the total mortality per year is nearly equal for between melanoma and non-melanoma skin ***,the non-melanoma types of cutaneous malignancies have potential to become locally invasive and even metastasize with very little to no treatment options when *** development of these malignancies involves various genetic pathways through the four hallmarks of cancer development:malignant cell growth,apoptosis evasion,the use of supporting stroma and vascularization,and modulating and promoting an inadequate immune *** genetic signaling pathways of basal cell carcinoma,squamous cell carcinoma,verrucous carcinoma,basosquamous cell carcinoma,melanoma,and cutaneous T-cell lymphoma interact with each other through genetic predisposition as well as with environmental ***,solar ultraviolet radiation and chronic inflammatory states are found to initiate the progression of many of these cutaneous *** paper includes validated models of genetic pathways,emerging pathways,and crosstalk between genetic pathways through the four hallmarks of cancer ***,unlike most reviews addressing oncogenetics of the well-recognized,as well as newly discovered,genetic pathway mutations,this review stresses that these pathways are not fixed but rather exist in dynamic,interrelated,interactive,complex,and adaptive flux states.

关键词： Basal cell carcinoma squamous cell carcinoma verrucous carcinoma basosquamous cell carcinoma melanoma cutaneous T-cell lymphoma genetic pathways cancer hallmarks

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