Results 61 to 70 of about 173,415,106 (290)
Background The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) encodes for a multifunctional receptor involved in lysosomal enzyme trafficking, fetal organogenesis, cytotoxic T cell-induced apoptosis and tumor suppression.
Jang Hong-Seok +9 more
doaj +1 more source
Reclassification of oligoastrocytomas by loss of heterozygosity studies [PDF]
Abstract Oligoastrocytomas (OAs) are WHO grade II or III tumors composed of a mixture of 2 neoplastic cell types morphologically resembling the cells in oligodendrogliomas and diffuse astrocytomas. Investigations on the genetic profile of OAs may yield important information for their classification and help for ...
Marica, Eoli +11 more
openaire +2 more sources
Evolution‐guided yeast complementation reveals functional differences in human PSPH variants
Ancient genomes can help guide which human genetic variants are tested experimentally. This study applies that idea to PSPH, a gene involved in serine biosynthesis, and uses high‐throughput yeast complementation to compare variant function. The findings reveal measurable differences among selected alleles and illustrate the value of evolution‐guided ...
Mauricio Campa‐Álvarez +6 more
wiley +1 more source
Copy number variation and loss of heterozygosity by SNP array.
Tumours with loss of heterozygosity at loci of mutated tumour suppressor. Patients with diagnostic criteria of NF1 were considered as potential carriers of a pathogenic variant in the NF1 gene. NA, Not Available.
Margareta Nordling (513012) +6 more
core +1 more source
ADD3 Deletion in Glioblastoma Predicts Disease Status and Survival
Loss of heterozygosity (LOH) on chromosome 10 frequently occurs in gliomas. Whereas genetic loci with allelic deletion often implicate tumor suppressor genes, a putative tumor suppressor Adducin3 (ADD3) mapped to chromosome 10q25.2 was found to be ...
Karrie Mei-Yee Kiang +2 more
doaj +1 more source
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti +5 more
wiley +1 more source
High-Resolution Detection of Loss of Heterozygosity of Dinucleotide Microsatellite Markers
Dinucleotide microsatellite markers are frequently investigated to study inheritance, genetic stability, and allele frequency distribution in a wide variety of genetic disorders. Previous studies have encountered significant problems regarding resolution
Rebecca N. Hourihan +2 more
doaj +1 more source
Glioblastoma cells express calcitonin receptor variants (CT receptor isoforms) that may help them survive stress. Using qPCR, transcript‐specific long‐read nanopore sequencing, immunofluorescence co‐localisation and comparative sequence analysis, this study identifies a novel alternatively spliced CALCR transcript that encodes the CTb receptor isoform ...
Pragya Gupta +7 more
wiley +1 more source
Supplementary Table 1 from Whole-Genome Allelotyping Identified Distinct Loss-of-Heterozygosity Patterns in Mucinous Ovarian and Appendiceal ...
Michael Johnson (3854) +9 more
core +1 more source
Research of loss of heterozygaity on chromosome 3p in non-small cell lung cancer
Background and objective It has been proven that allelic loss of chromosome region 3p occurs early and frequently in non-small-cell lung cancer, and numerous tumor suppressor genes at this locus may be targets of inactivation. The aim of this study is to
Xinyu MEI +6 more
doaj

