telangiectasis/carbohydrate

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Ataxia telangiectasia: A report of two cousins and review of literature.

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Ataxia telangiectasia (AT) is a rare multisystem, neurodegenerative genetic disorder. Due to its wide clinical heterogeneity, it often leads physicians to an incorrect or missed diagnosis, and insight into this rare disease is important. Here is a case report of two cousins from the same family who

Possible pro-inflammatory role of heparin-binding epidermal growth factor-like growth factor in the active phase of systemic sclerosis.

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Heparin-binding epidermal growth factor (EGF)-like growth factor (HB-EGF) is a member of the EGF family growth factors, which affects multiple aspects of the wound healing process such as epithelialization, wound contraction and angiogenesis. In our study, we measured the serum HB-EGF levels of 51

NFBD1/MDC1 regulates Cav1 and Cav2 independently of DNA damage and p53.

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NFBD1/MDC1 is involved in DNA damage checkpoint signaling and DNA repair. NFBD1 binds to the chromatin component γH2AX at sites of DNA damage, causing amplification of ataxia telangiectasia-mutated gene (ATM) pathway signaling and recruitment of DNA repair factors. Residues 508-995 of NFBD1 possess

Proteomic profiling of ATM kinase proficient and deficient cell lines upon blockage of proteasome activity.

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Ataxia Telangiectasia Mutated (ATM) protein kinase is a key effector in the modulation of the functionality of some important stress responses, including DNA damage and oxidative stress response, and its deficiency is the hallmark of Ataxia Telangiectasia (A-T), a rare genetic disorder. ATM

Hypothesis of demodicidosis rosacea flushing etiopathogenesis.

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Most of the patients with erythematotelangiectatic rosacea are characterized by flushing, oedema and telangiectasia. The etiopathogenesis of the flushing in rosacea patients is unknown. Clinically the flushing in rosacea is similar to the "Asian flushing syndrome". Most Asians have an overactive

Beta-Ecdysone Protects Mouse Osteoblasts from Glucocorticoid-Induced Apoptosis In Vitro.

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Glucocorticoid-induced osteoporosis is a common form of secondary osteoporosis. Glucocorticoids affect both bone formation and resorption, and prolonged glucocorticoid exposure can suppress osteoblast activities. beta-Ecdysone, found in many plants, is involved in protein synthesis, carbohydrate and

Clinical and molecular characteristics of two transaldolase-deficient patients.

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Transaldolase (TALDO) deficiency is a rare metabolic disease in the pentose phosphate pathway, which manifests as a severe, early-onset multisystem disease. The body fluids of affected patients contain increased polyol concentrations and seven-carbon chain carbohydrates. We report the molecular and

Epidemiology of pancreatic cancer: an overview.

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BACKGROUND The incidence of pancreatic cancer worldwide appears to correlate with increasing age, and it is slightly more common among men and Jewish people. There is evidence that the incidence rate is higher among blacks than among whites. METHODS The published literature was reviewed for

ATM is a redox sensor linking genome stability and carbon metabolism.

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In response to oxidative stress, central carbohydrate metabolism is reconfigured so that the metabolic flux reroutes from glycolysis into the pentose phosphate pathway (PPP), which allows cells to mount an effective response to this cellular stress. The kinase ataxia telangiectasia mutated (ATM)

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

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Transaldolase deficiency is a heterogeneous disorder of carbohydrate metabolism characterized clinically by dysmorphic features, cutis laxa, hepatosplenomegaly, hepatic fibrosis, pancytopenia, renal and cardiac abnormalities, and urinary excretion of polyols. This report describes four Emirati

Mechanistic insights into the cytotoxicity and genotoxicity induced by glycidamide in human mammary cells.

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Acrylamide (AA) is a well-known industrial chemical classified as a probable human carcinogen. Benign and malignant tumours at different sites, including the mammary gland, have been reported in rodents exposed to AA. This xenobiotic is also formed in many carbohydrate-rich foods prepared at high

Hydrogen Indirectly Suppresses Increases in Hydrogen Peroxide in Cytoplasmic Hydroxyl Radical-Induced Cells and Suppresses Cellular Senescence.

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Bacteria inhabiting the human gut metabolize microbiota-accessible carbohydrates (MAC) contained in plant fibers and subsequently release metabolic products. Gut bacteria produce hydrogen (H₂), which scavenges the hydroxyl radical (•OH). Because H₂ diffuses within the cell, it is hypothesized that

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