A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex Klotsch
BMC Genomics, 2021 Background Mutation breeding is an extraordinary tool in plant breeding to increase the genetic variability, where mutations in anthocyanin biosynthesis are targets to generate distinctive phenotypes in ornamental species.
Vinicius Vilperte +2 more
doaj +1 more source
A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]
, 2019 Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna +6 more
core +2 more sources
Identification of novel therapeutic targets in the PI3K/AKT/mTOR pathway in hepatocellular carcinoma using targeted next generation sequencing. [PDF]
, 2014 Understanding genetic aberrations in cancer leads to discovery of new targets for cancer therapies. The genomic landscape of hepatocellular carcinoma (HCC) has not been fully described. Therefore, patients with refractory advanced/metastatic HCC referred
Janku, Filip +4 more
core +6 more sources
Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy
Frontiers in Neurology, 2022 The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the ...
Guilan Chen +10 more
doaj +1 more source
Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. [PDF]
, 2019 Background and purposeThe objective of this study was to longitudinally investigate the trajectory of change in 1 H MRS measurements in asymptomatic MAPT mutation carriers who became symptomatic during follow-up, and to determine the time at which the ...
Boeve, Bradley F +22 more
core +3 more sources
Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]
, 2015 Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina +6 more
core +1 more source
BMC Genomics, 2020 Background Gang goose is a native species with gray plumage in Sichuan, China. As a result of overhunting, the number of gray Gang geese has decreased dramatically. To keep the species from extinction, conservation work for Gang geese was undertaken.
Yang Xi +10 more
doaj +1 more source
, 2020 We describe and investigate a connection between the topology of isolated singularities of plane curves and the mutation equivalence, in the sense of cluster algebra theory, of the quivers associated with their morsifications.Comment: Major revision and ...
Fomin, Sergey +3 more
core +1 more source
The novel MAPT mutation K298E:mechanisms of mutant tau toxicity, brain pathology and tau expression in induced fibroblast-derived neurons [PDF]
, 2013 Frontotemporal lobar degeneration (FTLD) consists of a group of neurodegenerative diseases characterized by behavioural and executive impairment, language disorders and motor dysfunction.
Calo, Laura +14 more
core +4 more sources
BMC Genetics, 2010 Background The MITF (microphthalmia-associated transcription factor) gene has been investigated in mice and various vertebrates but its variations and associated effects have not yet been explored much in birds.
Ito Shin'ichi +5 more
doaj +1 more source