Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi-based consensus survey of international experts.
Sign Up to like & getrecommendations! Published in 2023 at "Cancer medicine"
DOI: 10.1002/cam4.6075
Abstract: BACKGROUND/OBJECTIVES Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. We aimed to… read more here.
Keywords: ataxia telangiectasia; consensus; surveillance; cancer surveillance ... See more keywords
Neurodegeneration in ataxia‐telangiectasia: Multiple roles of ATM kinase in cellular homeostasis
Sign Up to like & getrecommendations! Published in 2018 at "Developmental Dynamics"
DOI: 10.1002/dvdy.24522
Abstract: Ataxia‐telangiectasia (A‐T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency, and increased sensitivity to ionizing radiation. A‐T is attributed to the deficiency of the protein kinase coded by the ATM (ataxia‐telangiectasia mutated) gene. ATM… read more here.
Keywords: roles atm; ataxia telangiectasia; cellular homeostasis;
Dysfunction of cerebellar microglia in Ataxia‐telangiectasia
Sign Up to like & getrecommendations! Published in 2021 at "Glia"
DOI: 10.1002/glia.24122
Abstract: Ataxia‐telangiectasia (A‐T) is a multisystem autosomal recessive disease caused by mutations in the ATM gene and characterized by cerebellar atrophy, progressive ataxia, immunodeficiency, male and female sterility, radiosensitivity, cancer predisposition, growth retardation, insulin‐resistant diabetes, and… read more here.
Keywords: ataxia telangiectasia; cerebellar microglia; dysfunction; ataxia ... See more keywords
How parents of children with ataxia-telangiectasia use dynamic coping to navigate cyclical uncertainty.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of genetic counseling"
DOI: 10.1002/jgc4.1727
Abstract: Ataxia-telangiectasia (A-T) is a rare, childhood-onset, multi-systemic, progressive condition. Parents of children with rare diseases like A-T are emotionally, socially, and psychologically impacted by the diagnosis. To examine the parental perspective of having a child… read more here.
Keywords: ataxia telangiectasia; children rare; parents children; diagnosis ... See more keywords
Ataxia‐telangiectasia: A review of movement disorders, clinical features and genotype correlations ‐ Addendum
Sign Up to like & getrecommendations! Published in 2018 at "Movement Disorders"
DOI: 10.1002/mds.27449
Abstract: Since the online publication of our article, two relevant reports have been published that merit mention. In one, a 27 year old woman with a past history of recurrent infections and elevated AFP level developed… read more here.
Keywords: kinase activity; movement; clinical features; ataxia telangiectasia ... See more keywords
Ataxia telangiectasia in Turkey: multisystem involvement of 91 patients
Sign Up to like & getrecommendations! Published in 2017 at "World Journal of Pediatrics"
DOI: 10.1007/s12519-017-0011-z
Abstract: BackgroundAtaxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients.MethodsMedical records of the patients who… read more here.
Keywords: mean age; turkey multisystem; multisystem; telangiectasia turkey ... See more keywords
B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients.
Sign Up to like & getrecommendations! Published in 2018 at "Allergologia et immunopathologia"
DOI: 10.1016/j.aller.2017.09.031
Abstract: BACKGROUND Ataxia-telangiectasia (AT) is a well-known primary immunodeficiency with recurrent sinopulmonary infections and variable abnormalities in both the humoral and cellular immune system. Dysfunctions in immunoglobulin production, reduced number of B cells, and B-cell receptor… read more here.
Keywords: expression cd40; ataxia telangiectasia; cell subsets; cd40 ... See more keywords
Immune competence and respiratory symptoms in patients with ataxia telangiectasia: A prospective follow-up study.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical immunology"
DOI: 10.1016/j.clim.2020.108491
Abstract: Ataxia telangiectasia is a multi-system disorder characterized by progressive cerebellar ataxia, malignancies, chronic pulmonary disease and immunodeficiency. The aim of our study was to determine the immune competence and prevalence of respiratory infections and/or chronic… read more here.
Keywords: ataxia telangiectasia; respiratory symptoms; study; immune competence ... See more keywords
Discovery of a potent and highly selective inhibitor of ataxia telangiectasia mutated and Rad3-Related (ATR) kinase: Structural activity relationship and antitumor activity both in vitro and in vivo.
Sign Up to like & getrecommendations! Published in 2022 at "European journal of medicinal chemistry"
DOI: 10.1016/j.ejmech.2022.114187
Abstract: Ataxia telangiectasia mutated and Rad3-related (ATR) kinase is an important regulator of the DNA damage response (DDR), especially in response to replication stress (RS). Tumor cells with ataxia-telangiectasia mutated (ATM) kinase loss of function or… read more here.
Keywords: ataxia telangiectasia; antitumor; telangiectasia mutated; discovery ... See more keywords
Audiological findings in children with ataxia-telangiectasia (A-T) syndrome.
Sign Up to like & getrecommendations! Published in 2017 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2016.11.012
Abstract: AIM To assess peripheral and central hearing in children with A-T. METHOD 3 children diagnosed with A-T according to the diagnostic criteria for A-T of the European Society for Immunodeficiencies. Involuntary movements were seen in… read more here.
Keywords: central hearing; findings children; ataxia telangiectasia; children ataxia ... See more keywords
Oxidative stress, mitochondrial abnormalities and antioxidant defense in Ataxia-telangiectasia, Bloom syndrome and Nijmegen breakage syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Redox Biology"
DOI: 10.1016/j.redox.2016.12.030
Abstract: Rare pleiotropic genetic disorders, Ataxia-telangiectasia (A-T), Bloom syndrome (BS) and Nijmegen breakage syndrome (NBS) are characterised by immunodeficiency, extreme radiosensitivity, higher cancer susceptibility, premature aging, neurodegeneration and insulin resistance. Some of these functional abnormalities can… read more here.
Keywords: telangiectasia bloom; oxidative stress; ataxia telangiectasia; stress ... See more keywords