Detection of African swine fever virus in archived Formalin fixed Paraffin embedded swine tissue sections in Uganda using Immunohistochemistry (IHC) and Polymerase chain reaction (PCR). [PDF]
Afayoa M, Ojok L, Okuni JB.
europepmc +1 more source
LINC00323 variant is associated with increased risk of essential tremor
Abstract Essential tremor (ET) is a common adult movement disorder, with accumulating evidence suggesting that genetic factors primarily account for ET risk. However, replication studies on the genetic variants have yielded inconsistent results. In our case–control study, we show that the LINC00323 variant, identified in a European GWAS study, is ...
Brendan Tan+11 more
wiley +1 more source
Serial 'deep-sampling' PCR of fragmented DNA reveals the wide range of <i>Trypanosoma cruzi</i> burden among chronically infected human, macaque, and canine hosts, and allows accurate monitoring of parasite load following treatment. [PDF]
White BE+6 more
europepmc +1 more source
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng+6 more
wiley +1 more source
Comment on "Phase 2 study of neoadjuvant durvalumab plus docetaxel, oxaliplatin, and S-1 with surgery and adjuvant durvalumab plus S-1 for resectable locally advanced gastric cancer". [PDF]
An S, Liu FT, Wang C.
europepmc +1 more source
FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier+20 more
wiley +1 more source
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra+17 more
wiley +1 more source
LncRNA PVT1 activated by TGF-β1/Smad3 facilitates proliferation and metastasis of hepatocellular carcinoma via upregulating Smad6 and NRG1. [PDF]
Wu S+9 more
europepmc +1 more source
Clinical Phenotyping of Long COVID Patients Evaluated in a Specialized Neuro‐COVID Clinic
ABSTRACT Objective To report Long COVID characteristics and longitudinal courses of patients evaluated between 4/14/21–4/14/22 at the University of Pennsylvania Neurological COVID Clinic (PNCC), including clinical symptoms, neurological examination findings, and neurocognitive screening tests from a standardized PNCC neurological evaluation approach ...
Luana D. Yamashita+7 more
wiley +1 more source