Potocki-Lupski syndrome is a condition that results from having an extra copy of a small piece of chromosome 17 in each cell. A different condition, known as Smith-Magenis syndrome, results when a ...

Purpose: To develop a high resolution microarray based method to detect single- and multiexons gene deletions and duplications. Methods: We have developed a high-resolution comparative genomic ...

FMS-like tyrosine kinase 3 (FLT3) is mutated in approximately one third of acute myeloid leukemia cases. The most common FLT3 mutations in acute myeloid leukemia are internal tandem duplication (ITD) ...

The hereditary motor and sensory neuropathies (HMSNs) are a clinically heterogeneous group of peripheral neuropathies, characterized by slowly progressive weakness and atrophy of the distal limb ...

This APP duplication was reported in a study of 24 French families carrying APP duplications (Grangeon et al., 2023). Duplications were detected by analyzing the APP locus on chromosome 21 using ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

Understanding the specific mutations that contribute to different forms of cancer is critical to improving diagnosis and treatment. But limitations in DNA sequencing technology make it difficult to ...

Gene duplication events in European eels have restored cell membrane permeability for urea and boric acid through mutated aquaporin genes. “The aromatic/arginine (ar/R) selectivity filter is a narrow ...

Extensive single Watson-Crick base pair mutations can occur in addition to duplication or deletion of an entire group of genes on chromosomal region 17p11.2. Potocki-Lupski syndrome is a condition ...

Patients with multiple CALMs w/wo skinfold freckling and no other typical NF1 associated features (Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas). The DNA-based ...

Common ancestor eels lost the aquaporin gene encoding proteins with broad solute permeability. Researchers from the Institute of Science Tokyo have now found that recent gene duplication events in the ...