Browsing by Subject "gene deletion"
Now showing items 1-12 of 12
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Asymmetric behavior of archaeal prolyl-tRNA synthetase
(2005)Archaeal prolyl-tRNA synthetases differ from their bacterial counterparts: they contain an additional domain (about 70 amino acids) appended to the carboxy-terminus and lack an editing domain inserted into the class II ... -
Autism spectrum disorder, anxiety and severe depression in a male patient with deletion and duplication in the 21q22.3 region: A case report
(2019)In this report, a patient carrying a 650 kb deletion and a 759 kb duplication of chromosomal 21q22.3 region was described. Facial dysmorphic features, hypotonia, short stature, learning impairment, autism spectrum disorder, ... -
BAFF receptor polymorphisms and deficiency in humans
(2021)The BAFF-receptor (BAFFR) is a member of the TNF-receptor family. It is expressed only by B cells and binds BAFF as single ligand, which activates key signaling pathways regulating essential cellular functions, including ... -
Cell migration leads to spatially distinct but clonally related airway cancer precursors
(2014)Background Squamous cell carcinoma of the lung is a common cancer with 95% mortality at 5 years. These cancers arise from preinvasive lesions, which have a natural history of development progressing through increasing ... -
A freestanding proofreading domain is required for protein synthesis quality control in Archaea
(2004)Threonyl-tRNA synthetase (ThrRS) participates in protein synthesis quality control by selectively editing the misacylated species Ser-tRNAThr. In bacteria and eukaryotes the editing function of ThrRS resides in a highly ... -
Hepatocyte autotaxin expression promotes liver fibrosis and cancer
(2017)Autotaxin (ATX) is a secreted lysophospholipase D that catalyzes the production of lysophosphatidic acid (LPA), a pleiotropic growth-factor–like lysophospholipid. Increased ATX expression has been detected in various chronic ... -
A novel homozygous SACS mutation identified by whole exome sequencing-genotype phenotype correlations of all published cases
(2020)ARSACS is an autosomal recessive disorder characterized by ataxia, spasticity, and polyneuropathy. A plethora of worldwide distributed mutations have been described so far. Here, we report two brothers, born to non-consanguineous ... -
Risk factor genes in patients with dystonia: A comprehensive review
(2019)Background: Dystonia is a movement disorder with high heterogeneity regarding phenotypic appearance and etiology that occurs in both sporadic and familial forms. The etiology of the disease remains unknown. However, there ... -
Role of Arc1p in the modulation of yeast glutamyl-tRNA synthetase activity
(2005)Yeast methionyl-tRNA synthetase (MetRS) and glutamyl-tRNA synthetase (GluRS) possess N-terminal extensions that bind the cofactor Arc1p in trans. The strength of GluRS-Arc1p interaction is high enough to allow copurification ... -
A stromal Integrated Stress Response activates perivascular cancer-associated fibroblasts to drive angiogenesis and tumour progression
(2022)Bidirectional signalling between the tumour and stroma shapes tumour aggressiveness and metastasis. ATF4 is a major effector of the Integrated Stress Response, a homeostatic mechanism that couples cell growth and survival ... -
Transcription of the NKG2D ligand MICA is suppressed by the IRE1/XBP1 pathway of the unfolded protein response through the regulation of E2F1
(2019)The unfolded protein response (UPR) is an adaptive signaling pathway activated in response to endoplasmic reticulum (ER) stress. The effectors of the UPR are potent transcription activators; however, some genes are suppressed ... -
Transcriptomic analysis of the claudin interactome in malignant pleural mesothelioma: Evaluation of the effect of disease phenotype, asbestos exposure, and CDKN2A deletion status
(2017)Malignant pleural mesothelioma (MPM) is a highly aggressive tumor primarily associated with asbestos exposure. Early detection of MPM is restricted by the long latency period until clinical presentation, the ineffectiveness ...