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ATM splicing variants as biomarkers for low dose dexamethasone treatment of A-T.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Intra-Erythrocyte Infusion of Dexamethasone Reduces Neurological Symptoms in Ataxia Teleangiectasia Patients: Results of a Phase 2 Trial.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-5
- By:
- Publication type:
- Article
Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia teleangiectasia patients: results of a phase 2 trial.
- Published in:
- 2014
- By:
- Publication type:
- journal article
A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 8, p. 1239, doi. 10.3390/ijms17081239
- By:
- Publication type:
- Article
p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
- Published in:
- 2013
- By:
- Publication type:
- journal article
p53 centrosomal localizatio n diagnoses ataxia-telangiectasia homozygotes and heterozygotes.
- Published in:
- Journal of Clinical Investigation, 2013, v. 123, n. 3, p. 1335, doi. 10.1172/JCI67289
- By:
- Publication type:
- Article
ATM and the DNA damage response.
- Published in:
- EMBO Reports, 2006, v. 7, n. 2, p. 154, doi. 10.1038/sj.embor.7400629
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- Publication type:
- Article
DHPLC screening of ATM gene in Italian patients affected by ataxia-telangiectasia: Fourteen novel ATM mutations.
- Published in:
- Disease Markers, 2006, v. 22, n. 4, p. 257, doi. 10.1155/2006/740493
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- Publication type:
- Article
Impact of Cystic Fibrosis Transmembrane Regulator (CFTR) gene mutations on male infertility.
- Published in:
- Archives of Italian Urology & Andrology / Archivio Italiano di Urologia Andrologia, 2014, v. 86, n. 3, p. 171, doi. 10.4081/aiua.2014.3.171
- By:
- Publication type:
- Article
Cutaneous Venous Malformations Related to KRIT1 Mutation: Case Report and Literature Review.
- Published in:
- Journal of Molecular Neuroscience, 2013, v. 51, n. 2, p. 442, doi. 10.1007/s12031-013-0053-1
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- Publication type:
- Article
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT/mTOR Signaling and Sensitivity to PIK3 Inhibitors.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0123092
- By:
- Publication type:
- Article
Critical Involvement of the ATM-Dependent DNA Damage Response in the Apoptotic Demise of HIV-1- Elicited Syncytia.
- Published in:
- PLoS ONE, 2008, v. 3, n. 6, p. 1, doi. 10.1371/journal.pone.0002458
- By:
- Publication type:
- Article
Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.
- Published in:
- 2010
- By:
- Publication type:
- Letter
Nano-Mechanical Characterization of Ataxia Telangiectasia Cells Treated with Dexamethasone.
- Published in:
- Cell Biochemistry & Biophysics, 2017, v. 75, n. 1, p. 95, doi. 10.1007/s12013-016-0775-0
- By:
- Publication type:
- Article
Modifications of nuclear architecture and chromatin organization in ataxia telangiectasia cells are coupled to changes of gene transcription.
- Published in:
- Journal of Cellular Biochemistry, 2006, v. 99, n. 4, p. 1148, doi. 10.1002/jcb.20895
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- Publication type:
- Article
Changes of chromatin condensation in one patient with ataxia telangiectasia disorder: A structural study.
- Published in:
- Journal of Cellular Biochemistry, 1999, v. 75, n. 4, p. 578, doi. 10.1002/(SICI)1097-4644(19991215)75:4<578::AID-JCB4>3.0.CO;2-R
- By:
- Publication type:
- Article
Activation of ATM and Chk2 kinases in relation to the amount of DNA strand breaks.
- Published in:
- Oncogene, 2004, v. 23, n. 46, p. 7691, doi. 10.1038/sj.onc.1207986
- By:
- Publication type:
- Article
DNA damage-induced cell-cycle phase regulation of p53 and p21<sup>waf1</sup> in normal and ATM-defective cells.
- Published in:
- Oncogene, 2003, v. 22, n. 49, p. 7866, doi. 10.1038/sj.onc.1207086
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- Publication type:
- Article
Founder Effects for ATM Gene Mutations in Italian Ataxia Telangiectasia Families.
- Published in:
- Annals of Human Genetics, 2009, v. 73, n. 5, p. 532, doi. 10.1111/j.1469-1809.2009.00535.x
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- Publication type:
- Article
Ataxia-telangiectasia-mutated dependent phosphorylation of Artemis in response to DNA damage.
- Published in:
- Cancer Science, 2005, v. 96, n. 2, p. 134, doi. 10.1111/j.1349-7006.2005.00019.x
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- Publication type:
- Article
Dexamethasone improves redox state in ataxia telangiectasia cells by promoting an NRF2-mediated antioxidant response.
- Published in:
- FEBS Journal, 2016, v. 283, n. 21, p. 3962, doi. 10.1111/febs.13901
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- Publication type:
- Article
In vivo effects of dexamethasone on blood gene expression in ataxia telangiectasia.
- Published in:
- Molecular & Cellular Biochemistry, 2018, v. 438, n. 1/2, p. 153, doi. 10.1007/s11010-017-3122-x
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- Publication type:
- Article
Forward subtractive libraries containing genes transactivated by dexamethasone in ataxia-telangiectasia lymphoblastoid cells.
- Published in:
- Molecular & Cellular Biochemistry, 2014, v. 392, n. 1/2, p. 13, doi. 10.1007/s11010-014-2013-7
- By:
- Publication type:
- Article
Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage.
- Published in:
- Journal of Cell Biology, 2007, v. 177, n. 6, p. 969, doi. 10.1083/jcb.200701042
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- Publication type:
- Article
Gelastic Epilepsy.
- Published in:
- Clinical Pediatrics, 1992, v. 31, n. 8, p. 467, doi. 10.1177/000992289203100804
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- Publication type:
- Article
Holoprosencephalic Disorders.
- Published in:
- Clinical Pediatrics, 1984, v. 23, n. 5, p. 294, doi. 10.1177/000992288402300513
- By:
- Publication type:
- Article
p53 mitotic centrosome localization preserves centrosome integrity and works as sensor for the mitotic surveillance pathway.
- Published in:
- Cell Death & Disease, 2019, v. 10, n. 11, p. 1, doi. 10.1038/s41419-019-2076-1
- By:
- Publication type:
- Article
Identification of a potential 'hotspot' DNA region in the RUNX1 gene targeted by mitoxantrone in therapy-related acute myeloid leukemia with t(16;21) translocation.
- Published in:
- Genes, Chromosomes & Cancer, 2009, v. 48, n. 3, p. 213, doi. 10.1002/gcc.20633
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- Publication type:
- Article
Evidence for Detrimental Cross Interactions between Reactive Oxygen and Nitrogen Species in Leber’s Hereditary Optic Neuropathy Cells.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2015, v. 2015, p. 1, doi. 10.1155/2016/3187560
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- Publication type:
- Article
Multi-drugs resistant acne rosacea in a child affected by Ataxia-Telangiectasia: successful treatment with Isotretinoin.
- Published in:
- Italian Journal of Pediatrics, 2015, v. 41, n. 1, p. 1, doi. 10.1186/s13052-015-0125-7
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- Publication type:
- Article
SMC1 involvement in fragile site expression.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 4, p. 525, doi. 10.1093/hmg/ddi049
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- Publication type:
- Article
MRE11 mutations and impaired ATM-dependent responses in an Italian family with ataxia-telangiectasia-like disorder.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 18, p. 2155, doi. 10.1093/hmg/ddh221
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- Publication type:
- Article
hMRE11: genomic structure and a null mutation identified in a transcript protected from nonsense-mediated mRNA decay.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1155, doi. 10.1093/hmg/10.11.1155
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- Publication type:
- Article
Activation of NRF2 by dexamethasone in ataxia telangiectasia cells involves KEAP1 inhibition but not the inhibition of p38.
- Published in:
- PLoS ONE, 2019, v. 14, n. 5, p. 1, doi. 10.1371/journal.pone.0216668
- By:
- Publication type:
- Article
A randomized trial of oral betamethasone to reduce ataxia symptoms in ataxia telangiectasia.
- Published in:
- Movement Disorders, 2012, v. 27, n. 10, p. 1312, doi. 10.1002/mds.25126
- By:
- Publication type:
- Article
Six novel ATM mutations in Italian patients with classical ataxia-telangiectasia (Communicated by Mark H. Paalman) Online Citation: Human Mutation, Mutation in Brief #600 (2002) Online http://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf)
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129
- By:
- Publication type:
- Article
Six novel ATM mutations in Italian patients with classical ataxia?telangiectasiaCommunicated by Mark H. PaalmanOnline Citation: Human Mutation, Mutation in Brief #600 (2002) Onlinehttp://www.interscience.wiley.com/humanmutation/pdf/mutation/600.pdf.
- Published in:
- Human Mutation, 2003, v. 21, n. 4, p. 450, doi. 10.1002/humu.9129
- By:
- Publication type:
- Article
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel.
- Published in:
- Human Mutation, 1998, v. 11, n. 1, p. 69, doi. 10.1002/(SICI)1098-1004(1998)11:1<69::AID-HUMU11>3.0.CO;2-X
- By:
- Publication type:
- Article
Predominance of Null Mutations in Ataxia-Telangiectasia.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 4, p. 433, doi. 10.1093/hmg/5.4.433
- By:
- Publication type:
- Article
Translocation Y/5 resulting in Cri du Chat syndrome.
- Published in:
- Clinical Genetics, 1977, v. 12, n. 6, p. 319, doi. 10.1111/j.1399-0004.1977.tb00949.x
- By:
- Publication type:
- Article
Proteomics and transcriptomics analyses of ataxia telangiectasia cells treated with Dexamethasone.
- Published in:
- PLoS ONE, 2018, v. 13, n. 4, p. 1, doi. 10.1371/journal.pone.0195388
- By:
- Publication type:
- Article