Results 11 to 20 of about 99,459 (305)
Ataxia telangiectasia: a review
Orphanet Journal of Rare Diseases, 2016 Definition of the disease Ataxia telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility and radiation sensitivity.
Cynthia Rothblum-Oviatt +5 more
doaj +1 more source
A clinical profile of 100 patients with ataxia telangiectasia seen at a tertiary care center
Annals of Movement Disorders, 2020 INTRODUCTION: Ataxia telangiectasia (AT) is an autosomal-recessive disease, characterized by progressive cerebellar degeneration, mucocutaneous telangiectasia, immunodeficiency, recurrent sinopulmonary infections, sensitivity to radiation, and increased ...
Manjunath Mahadevappa +5 more
doaj +1 more source
Clinical manifestation, course and treatment results of Coats disease in children
Российский офтальмологический журнал, 2023 Purpose: to analyze the clinical manifestations, course, and results of treatment of Coats disease in children. Materials and methods. We performed a retrospective analysis of medical records of 59 patients with Coats retinitis (83 % were boys) who had ...
L. V. Kogoleva +6 more
doaj +1 more source
Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]
, 2019 Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore +8 more
core +1 more source
Hepatology, EarlyView., 2022 Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid +20 more
wiley +1 more source
c‐Rel–dependent Chk2 signaling regulates the DNA damage response limiting hepatocarcinogenesis
Hepatology, EarlyView., 2022 In response to genotoxic injury, c‐Rel upregulates ATM‐Chk2‐p53 pathway DNA damage proteins to limiting hepatocarcinogenesis. Abstract Background and Aims Hepatocellular carcinoma (HCC) is a leading cause of cancer‐related death. The NF‐κB transcription factor family subunit c‐Rel is typically protumorigenic; however, it has recently been reported as a
Jack Leslie +17 more
wiley +1 more source
Neck telangiectasia: A case with a twist [PDF]
Romanian Medical Journal, 2020 Telangiectasia represents a sign on the skin underlining multiple conditions, characterised by red/purple/blue thin lines caused by dilatation of capillaries/arterioles/venules.
Florica Sandru +4 more
doaj +1 more source
Closure of the nasal cavities in the treatment of refractory hereditary haemorrhagic telangiectasia [PDF]
, 1997 From a cohort of 35 patients with hereditary haemorrhagic telangiectasia (HHT), 12 patients have undergone closure of the one or both nasal cavities during the last three years for refractory epistaxis.
Howard, DJ, Lund, VJ
core +1 more source
Targeting ATM pathway for therapeutic intervention in cancer [PDF]
, 2012 The Ataxia Telangiectasia Mutated gene encodes the ATM protein, a key element in the DNA damage response (DDR) signalling pathway responsible for maintaining genomic integrity within the cell.
Chakarov, Stoyan +4 more
core +3 more sources
Hereditary hemorrhagic telangiectasia, embolization, and Young’s procedure: oral surgical management
Journal of Oral Medicine and Oral Surgery, 2018 Hereditary hemorrhagic telangiectasia (HHT) case with history of embolization and Young’s procedure: surgical management. Introduction: Osler–Weber–Rendu disease hereditary hemorrhagic telangiectasia (HHT) is a genetic vascular dysplasia.
Malthiery Eve +5 more
doaj +1 more source