7 documents found, page 1 of 1
Regulation of human ZNF687, a gene associated with Paget's disease of bone
Varela, Débora; Varela, Tatiana; Conceição, Natércia; Cancela, M. LeonorMutations in Zinc finger 687 (ZNF687) were associated with Paget's disease of bone (PDB), a disease charac-terized by increased bone resorption and excessive bone formation. It was suggested that ZNF687 plays a role in bone differentiation and development. However, the mechanisms involved in ZNF687 regulation remain un-known. This study aimed to obtain novel knowledge regarding ZNF687 transcriptional and epigen...
Cdkl5 mutant zebrafish shows skeletal and neuronal alterations mimicking human ...
Varela, Tatiana; Varela, Débora; Martins, Gil; Conceição, Natércia; Cancela, M. LeonorCDKL5 deficiency disorder (CDD) is a rare neurodevelopmental condition characterized primarily by seizures and impairment of cognitive and motor skills. Additional phenotypes include microcephaly, dysmorphic facial features, and scoliosis. Mutations in cyclin-dependent kinase-like 5 (CDKL5) gene, encoding a kinase essential for normal brain development and function, are responsible for CDD. Zebrafish is an acce...
Functional analysis of two novel TBX5 variants present in individuals with Holt...
Varela, Debora; Varela, Tatiana; Conceição, Natércia; Ferreira, Angela; Marques, Nuno; Silva, Ana Paula; Azevedo, Pedro; Pereira, Salome; Camacho, AnaHolt-Oram syndrome (HOS) is a rare disorder characterized by cardiac and upper-limb defects. Pathogenic variants in TBX5-a gene encoding a transcription factor important for heart and skeletal development-are the only known cause of HOS. Here, we present the identification and functional analysis of two novel TBX5 pathogenic variants found in two individuals with HOS presenting distinct phenotypes. The individu...
Transcriptional regulation of human DUSP4 gene by cancer‐related transcription ...
Varela, Tatiana; Conceição, Natércia; Laizé, Vincent; Cancela, M. LeonorDual specificity phosphatase 4 (DUSP4), a member of the dual specificity phosphatase family, is responsible for the dephosphorylation and inactivation of ERK, JNK and p38, which are mitogen-activated protein kinases involved in cell proliferation, differentiation and apoptosis, but also in inflammation processes. Given its importance for cellular signalling, DUSP4 is subjected to a tight regulation and there is...
Expression of DUSP4 transcript variants as a potential biomarker for colorectal...
Varela, Tatiana; Laizé, Vincent; Conceição, Natércia; Caldeira, Paulo; Marreiros, Ana; Guerreiro, Horacio; Cancela, M. LeonorAim: To provide novel data on the expression of DUSP4 transcripts in colorectal cancer (CRC) tissues and to explore their potential as biomarkers. Materials & methods:DUSP4 transcripts expression was determined by quantitative real-time PCR in tissues from 28 CRC patients. Their association with clinicopathological factors and survival analysis was performed. Data from 380 CRC patients available at The Cancer G...
Zebrafish: an interesting model to study CDKL5 deficiency disorder
Varela, Tatiana; Varela, Débora; Vitorino, Marta; Conceição, Natércia; Cancela, M. Leonor; Martins, GilCDKL5 deficiency disorder is a rare X-linked condition that results in early onset of impairedmotor and cognitive skills such as motor rigidity, stereotypical hand movements and deficient language acquisition aswell as recurrent seizures. It is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene, which encodes a serine/threonine kinase involved in important neuronal processes such as cell sig...
Analysis of transcriptional and post-transcriptional regulation of DUSP4, a hum...
Varela, TatianaColorectal cancer (CRC) is the third most common type of cancer and the fourth leading cause of death worldwide. Dual specificity phosphatase 4 (DUSP4) – a regulator of the mitogen-activated protein kinase activity – has been recently associated with CRC after its expression was found to be up-regulated in tumour tissue. However, expression data are limited and mechanisms underlying DUSP4 regulation poorly unde...