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(Louis Bar syndrome)
9,905 results
  • Increased radiation toxicity with germline ATM variant of uncertain clinical significance. [Case Reports]
    Rep Pract Oncol Radiother 2019 Nov-Dec; 24(6):672-680Mullins BT, Gupta G
  • CONCLUSIONS: Our data illustrates that patients with germline heterozygous ATM mutations can have widely varying clinical effects with radiation therapy. Given the possibility of unpredictable deleterious effects, our study highlights the importance of caution and careful consideration when devising the multi-modality management strategy in these patients.
  • Early diagnosis of ataxia telangiectasia in the neonatal phase: a parents' perspective. [Journal Article]
    Eur J Pediatr 2019Schoenaker MHD, Blom M, … Willemsen MAAP
  • CONCLUSIONS: The majority of parents of a child with A-T would have preferred an early diagnosis during the asymptomatic phase of the disease, because the uncertainty during the diagnostic process had had a major impact on their lives. In addition, the knowledge of being carriers of an ATM gene mutation influenced decisions about family planning. Parents who opposed against an early diagnosis emphasized the joy of having a seemingly healthy child until diagnosis.What is Known:• Ataxia telangiectasia (A-T) is a devastating DNA repair disorder with a huge impact on quality of life of patients and their parents.• Patients with A-T may incidentally be identified at birth as the consequence of neonatal screening for severe combined immunodeficiency (SCID).What is New:• The majority of Dutch parents of A-T patients (74%) would have preferred an early diagnosis of their child in the asymptomatic phase of the disease.• Major arguments for an early A-T diagnosis were (1) the experienced insecurity in diagnostic trajectories and its impact on families and (2) the knowledge of being ATM mutation carriers when deciding about family planning. An argument against an early diagnosis is losing the joy of having a seemingly healthy child until diagnosis.
  • Vasculitis in a Child With the Hyper-IgM Variant of Ataxia-Telangiectasia. [Case Reports]
    Front Pediatr 2019; 7:390Meyer AK, Banks M, … Abbott JK
  • A subset of patients with Ataxia-Telangiectasia (A-T) have dramatically reduced levels of IgG, IgA, and IgE with retained or elevated IgM levels. Several reports suggest that these A-T patients with a "hyper-IgM phenotype" (HIgM) suffer more clinical immunologic consequences than other A-T patients. The immunopathologic mechanism driving this phenomenon is unknown, making it difficult to predict …
  • ATR Protects the Genome against R Loops through a MUS81-Triggered Feedback Loop. [Journal Article]
    Mol Cell 2019Matos DA, Zhang JM, … Zou L
  • R loops arising during transcription induce genomic instability, but how cells respond to the R loop-associated genomic stress is still poorly understood. Here, we show that cells harboring high levels of R loops rely on the ATR kinase for survival. In response to aberrant R loop accumulation, the ataxia telangiectasia and Rad3-related (ATR)-Chk1 pathway is activated by R loop-induced reversed re…
  • ATM controls DNA repair and mitochondria transfer between neighboring cells. [Journal Article]
    Cell Commun Signal 2019; 17(1):144Jin S, Cordes N
  • Intercellular communication is essential for multicellular tissue vitality and homeostasis. We show that healthy cells message protective signals through direct cell-cell connections to adjacent DNA-damaged cells in a microtubule-dependent manner. In DNA-damaged cells, mitochondria restoration is facilitated by fusion with undamaged mitochondria from healthy cells and their DNA damage repair is o…
  • Resveratrol ameliorates high-fat diet-induced insulin resistance and fatty acid oxidation via ATM-AMPK axis in skeletal muscle. [Journal Article]
    Eur Rev Med Pharmacol Sci 2019; 23(20):9117-9125Zhang YJ, Zhao H, … Song GY
  • CONCLUSIONS: ATM is a key factor to improve HFD-induced lipid metabolism and insulin resistance in skeletal muscles. The effects of RSV on ameliorating HFD-induced abnormal lipid metabolism and insulin resistance mediated through ATM-AMPK pathway may due to its improvement in fatty acid oxidation efficiency and sequential reduction in ROS production in skeletal muscle. These results provide important theoretical evidence for the application of RSV in the prevention and treatment of diabetes mellitus and related metabolic diseases.
  • ATR, a DNA Damage Signaling Kinase, Is Involved in Aluminum Response in Barley. [Journal Article]
    Front Plant Sci 2019; 10:1299Szurman-Zubrzycka M, Nawrot M, … Szarejko I
  • Ataxia Telangiectasia and Rad-3-related protein (ATR) is a DNA damage signaling kinase required for the monitoring of DNA integrity. Together with ATM and SOG1, it is a key player in the transcriptional regulation of DNA damage response (DDR) genes in plants. In this study, we describe the role of ATR in the DDR pathway in barley and the function of the HvATR gene in response to DNA damages induc…
  • Trihexyphenidyl for treatment of dystonia in ataxia telangiectasia: a case report. [Journal Article]
    Childs Nerv Syst 2019Zhang L, Jia Y, … Wang Y
  • Ataxia telangiectasia (AT) is an autosomal recessive multisystem disorder caused by mutations of ATM gene. And dystonia may develop as a late manifestation in typical AT. Here we report a novel homozygous frameshift ATM mutation (c.1402_1403delAA; p. K468Efs*18) in a 10-year-old male. The patient was diagnosed as typical AT according to clinical presentations which included progressive cerebellar…
  • ATM activity in T cells is critical for immune surveillance of lymphoma in vivo. [Journal Article]
    Leukemia 2019Riabinska A, Lehrmann D, … Reinhardt HC
  • The proximal DNA damage response kinase ATM is frequently inactivated in human malignancies. Germline mutations in the ATM gene cause Ataxia-telangiectasia (A-T), characterized by cerebellar ataxia and cancer predisposition. Whether ATM deficiency impacts on tumor initiation or also on the maintenance of the malignant state is unclear. Here, we show that Atm reactivation in initially Atm-deficien…
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