Interstitial Deletions Generating Fusion Genes

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions.

SMN1 and NAIP genes deletions in different types of spinal muscular atrophy in Khuzestan province, Iran

 Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...

Generating-function method for fusion rules

This is the second of two articles devoted to an exposition of the generating-function method for computing fusion rules in affine Lie algebras. The present paper focuses on fusion rules, using the machinery developed for tensor products in the companion article. Although the Kac-Walton algorithm provides a method for constructing a fusion generating function from the corresponding tensor-produ...

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion transcripts may have an important role in central nervous system development and/or in gene expression regulation, and therefore not only their deletion or duplication but also the resulting chimeric gene may contribute to the phenotype of t...

Insertions and Deletions Target Lineage-Defining Genes in Human Cancers

Certain cell types function as factories, secreting large quantities of one or more proteins that are central to the physiology of the respective organ. Examples include surfactant proteins in lung alveoli, albumin in liver parenchyma, and lipase in the stomach lining. Whole-genome sequencing analysis of lung adenocarcinomas revealed noncoding somatic mutational hotspots near VMP1/MIR21 and ind...