Germline large deletion of BAP1 and decreased expression in non‐tumor choroid in uveal melanoma patients with high risk for inherited cancer
Sign Up to like & getrecommendations! Published in 2019 at "Genes"
DOI: 10.1002/gcc.22752
Abstract: Uveal melanoma (UM) is the most common phenotype in patients with germline BAP1 mutation. This study aimed to identify selection criteria for BAP1 germline testing and assessed the role of large deletion/duplication and epigenetic inactivation.… read more here.
Keywords: bap1; large deletion; uveal melanoma; deletion ... See more keywords
Long-read sequence confirmed a large deletion of MYH6 and MYH7 in a family with atrial septal defect
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.3724
Abstract: Genome structural variants (SVs) have larger effect on human genome functions than single nucleotide variants (SNVs). Although short-read sequencing (SRS) is current major next generation sequencing method and has given us a great benefit to… read more here.
Keywords: myh6; long read; large deletion; deletion myh6 ... See more keywords
Analysis of differentially expressed genes on human X chromosome harboring large deletion induced by X-rays
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Radiation Research"
DOI: 10.1093/jrr/rrac093
Abstract: Abstract We examined here normal human cells with large deletions encompassing the hypoxanthine-phosphoribosyltransferase 1 (HPRT1) gene on X chromosome. Expression levels of genes on X chromosome were analyzed by microarray and RT-qPCR method, and differentially… read more here.
Keywords: deletion; expressed genes; differentially expressed; chromosome ... See more keywords
Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea
Sign Up to like & getrecommendations! Published in 2019 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2019.00259
Abstract: Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in CHAT, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a rare autosomal recessive… read more here.
Keywords: episodic apnea; congenital myasthenic; large deletion; apnea ... See more keywords
The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy
Sign Up to like & getrecommendations! Published in 2023 at "Biomedicines"
DOI: 10.3390/biomedicines11061565
Abstract: Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS data… read more here.
Keywords: first large; presenting sensory; deletion; patient presenting ... See more keywords