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Tissue- and Cell Type-Specific Expression of the Long Noncoding RNA Klhl14-AS in Mouse
(2017-01-01)
lncRNAs are acquiring increasing relevance as regulators in a wide spectrum of biological processes. The extreme heterogeneity in the mechanisms of action of these molecules, however, makes them very difficult to study, ...
Epidermolysis bullosa simplex with KLHL24 mutations is associated with dilated cardiomyopathy
(2019)
Inherited epidermolysis bullosa (EB) comprises rare heterogeneous disorders characterized by cutaneous and mucosal fragility. Most of the 20 proteins affected have structural functions. Recently, a previously undescribed ...
KLHL1 Controls CaV3.2 Expression in DRG Neurons and Mechanical Sensitivity to Pain
(Frontiers Media, 2020-01)
Dorsal root ganglion (DRG) neurons process pain signaling through specialized nociceptors located in their peripheral endings. It has long been established low voltage-activated (LVA) CaV3.2 calcium channels control neuronal ...
Generation and genetic repair of two human induced pluripotent cell lines from patients with Epidermolysis Bullosa simplex and dilated cardiomyopathy associated with a heterozygous mutation in the translation initiation codon of KLHL24
(2021)
Fibroblasts from two patients carrying a heterozygous mutation in the translation initiation codon (c.2 T > G) of the kelch-like protein 24 (KLHL24) gene were used to
generate human induced pluripotent stem cells (hiPSCs), ...
Prediction of hub genes associated with intramuscular fat content in Nelore cattle
(2019-06-25)
Background: The aim of this study was to use transcriptome RNA-Seq data from longissimus thoracis muscle of uncastrated Nelore males to identify hub genes based on co-expression network obtained from differentially expressed ...
Genomic imbalances associated with mullerian aplasia
(B M J PUBLISHING GROUP, 2008)
Background: Aplasia of the mullerian ducts leads to absence of the uterine corpus, uterine cervix, and upper (superior) vagina. Patients with mullerian aplasia (MA) often exhibit additional clinical features such as renal, ...
Influence of X-chromosome markers on reproductive traits of beef cattle
(2019-02-01)
Sex chromosomes are generally excluded from genomic analyses, although X chromosome is the second largest chromosome and harbors many genes. The objective of this study was to evaluate the effect of X chromosome by identifying ...
Genes diferencialmente expressos e splicing alternativos relacionados com características de carcaça e carne de bovinos da raça Nelore
(Universidade Estadual Paulista (Unesp), 2019-01-25)
O sequenciamento do RNA (RNA-Seq) é uma das abordagens utilizadas para identificar transcritos correspondentes a genes candidatos que provocam variações em vias metabólicas, resultando em diferentes fenótipos. Uma vez que, ...
Mielinização cerebral pós-natal em modelo de autismo induzido por exposição pré-natal ao ácido valpróico
(BrasilUFRNPROGRAMA DE PÓS-GRADUAÇÃO EM NEUROCIÊNCIAS, 2017-08-31)
The formation of brain circuits during neural development occurs through the interaction between timely regulated genetic and environmental signals, which influence multiple events such as neurogenesis, synaptogenesis, and ...