objective: type 2 diabetes (t2d) as a complex disease is the result of genetically heterogeneous factors and environmental issues interaction. linkage and small-scale candidate gene studies were successful in identification of genetic susceptibilities of monogenic form of diseases. however, they were largely unsuccessful while applying to the more common forms of disease. by designing genome wi...

Purpose Monogenic inflammatory bowel disease (IBD) patients do not respond to conventional therapy and are associated with a higher morbidity. We summarized the clinical characteristics of monogenic IBD patients and compared their clinical outcomes to that of non-monogenic IBD patients. Methods We performed a retrospective cohort study of all children <18 years old who were diagnosed with IBD...

Over the past decade, we have witnessed a major increase in the scale of scientific activity devoted to the study of energy balance and obesity. This explosion of interest has, to a large extent, been driven by the identification of genes responsible for murine obesity syndromes and the novel physiological pathways revealed by those genetic discoveries. We and others recently have identified se...

Introduction Many neurodevelopmental disorders with intellectual disability and autism spectrum disorder syndromes have overlapping genetic and molecular connections. Effective treatments for such genetic neurodevelopmental disorders have not been established yet. Possible reasons include the lack of suitable disease models of human neurons and a limited understanding of the etiological and neu...

In this paper, an analog of the conformable fractional derivative is defined in arbitrary finite-dimensional commutative associative algebra. Functions taking values indicated algebras and having derivatives sense a are called φ-monogenic. A relation between concepts φ-monogenic monogenic functions such has been established. Two new definitions have proposed for with algebras.

The population of the province of Newfoundland and Labrador is genetically isolated. This isolation is evidenced by an overabundance of several monogenic disorders. The Newfoundland population, like that of other isolates, is now the focus of interest for identification of genes implicated in common diseases. However, the utility of such populations for this purpose remains unproven. In this pa...

Genetic retinal diseases such as age-related macular degeneration and monogenic diseases such as retinitis pigmentosa account for some of the commonest causes of blindness in the developed world. Diverse genetic abnormalities and environmental causes have been implicated in triggering multiple pathological mechanisms such as oxidative stress, lipofuscin deposits, neovascularisation, and program...

Introduction Gene mosaicism describes an individual who has developed from a single zygote and has two or more cell types with distinct genotypes. Three major types of mosaicism have been described and are referred as gonadal, somatic and gonosomic mosaicism. They mainly differ on the body distribution of the somatic mutation and in their clinical consequences. The recent use of next-generation...

Artificial skin offers important advantages in gene therapy tor its biosafety and simple monitoring. An easy access of keratinocytes through small biopsies and their in vitro expansion enriched with epithelial stem cells, make them an ideal target for long-term therapeutic transgene expression. Corrective cutaneous gene therapy has been recently applied in clinical trials on dermatological gene...