PLoS Genetics, 2013 Serrated adenomas form a distinct subtype of colorectal pre-malignant lesions that may progress to malignancy along a different molecular pathway than the conventional adenoma-carcinoma pathway.
Andrew D Beggs +9 more
doaj +1 more source
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Reclassification of oligoastrocytomas by loss of heterozygosity studies [PDF]
International Journal of Cancer, 2006 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
Characterization of mutations and loss of heterozygosity of p53 and K-\u3ci\u3eras\u3c/i\u3e2 in pancreatic cancer cell lines by immobilized polymerase chain reaction [PDF]
, 2003 Background The identification of known mutations in a cell population is important for clinical applications and basic cancer research. In this work an immobilized form of the polymerase chain reaction, referred to as polony technology, was used to ...
Butz, James +2 more
core +1 more source
A first assessment of genetic variability in the longhorn beetle Rosalia alpina (Coleoptera: Cerambycidae) from the Italian Apennines [PDF]
, 2018 The Rosalia longicorn (Rosalia alpina) is a strictly protected saproxylic beetle, widely distributed in Central and Southern Europe and mainly associated with ancient beech forests. To improve knowledge about the conservation status of R. alpina in Italy,
Antonini, G. +15 more
core +2 more sources
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Introduction Neuronal pentraxin 2 (NPTX2) is a synaptic protein involved in synaptic plasticity and regulation of neuronal excitability. Lower baseline cerebrospinal fluid (CSF) NPTX2 levels have been shown to be associated with an earlier onset of mild cognitive impairment (MCI), a pre‐dementia syndrome, even after CSF Alzheimer's Disease (AD)
Juan P. Vazquez +12 more
wiley +1 more source
Бюллетень сибирской медицины, 2018 Purpose of work. To perform a genome-wide association study of loss of heterozygosity (LOH) with monoresistance genes expression during neoadjuvant chemotherapy (NAC) in breast cancer.Materials and methods.
M. M. Tsyganov +7 more
doaj +1 more source
Relationship of microsatellite instability to mismatch repair deficiency in malignant tumors of dogs
Journal of Veterinary Internal Medicine, 2022 Background Microsatellite instability (MSI) is a type of genomic instability caused by mismatch repair deficiency (dMMR) in tumors. Studies on dMMR/MSI are limited, and the relationship between dMMR and MSI is unknown in tumors of dogs.
Sakuya Inanaga +9 more
doaj +1 more source
639 BASECAMP-1: Leveraging HLA loss of heterozygosity in solid tumors by NGS to identify patients with relapsed solid tumors for future CEA and MSLN logic-gated Tmod™ CAR T-cell therapy [PDF]
, 2022 Diane M. Simeone +31 more
openalex +1 more source
Chromosomal Gains and Losses in Uveal Melanomas Detected by Comparative Genomic Hybridization [PDF]
, 1994 Eleven uveal melanomas were analyzed using comparative genomic hybridization (CGH). The most abundant genetic changes were loss of chromosome 3, overrepresentation of 6p, loss of 6q, and multiplication of 8q.
Becher, Reinhard +7 more
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