Neurofibromatosis type 1 (NF1) is caused by a nonfunctional copy of the NF1 tumor
suppressor gene that predisposes patients to the development of cutaneous neurofibromas …

Fragile X encompasses a range of genetic conditions, all of which result as a function of
changes within the FMR1 gene and abnormal production and/or expression of the FMR1 …

Neurofibromatosis Type 1 (NF1) is one of the most common genetically inherited disorders
that affects 1 in 3000 children annually. Clinical manifestations vary widely but nearly always …

Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease (Batten disease) is a
rare pediatric disease, with symptom development leading to clinical diagnosis. Early …

Genome editing technology is being used in animals for a variety of purposes, including
improvement of animal and public health outcomes. Characterization of genome editing …

Abstract Neurofibromatosis Type 1 (NF1) is a complex genetic disease that can display a
variety of phenotypes including skin lesions, cardiovascular abnormalities, skeletal …

Fibroblasts are the common cell type in the connective tissue-the most abundant tissue type
in the body. Fibroblasts are widely used for cell culture, for the generation of induced …

Neurofibromatosis Type 1 (NF1) is a complex, yet relatively common, monogenic disorder
that can lead to a variety of detrimental phenotypes. However, the mechanisms behind these …