Publications by authors named "Alessandro Bruselles"

43Publications

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies.

Clin Genet 2019 12 4;96(6):585-589. Epub 2019 Sep 4.

Dipartimento Pediatrie Specialistiche, U. O. Reumatologia, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

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http://dx.doi.org/10.1111/cge.13632DOI Listing
December 2019

Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 09 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Colorectal cancer spheroid biobanks: multi-level approaches to drug sensitivity studies.

Cell Biol Toxicol 2018 12 24;34(6):459-469. Epub 2018 Feb 24.

Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Viale Regina Elena 299, 00161, Rome, Italy.

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http://link.springer.com/10.1007/s10565-018-9423-3
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http://dx.doi.org/10.1007/s10565-018-9423-3DOI Listing
December 2018

A syndromic extreme insulin resistance caused by biallelic mutations in exon 10.

Eur J Endocrinol 2017 Nov 17;177(5):K21-K27. Epub 2017 Aug 17.

Department of Medical Sciences, University of Torino, Torino, Italy.

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http://dx.doi.org/10.1530/EJE-17-0431DOI Listing
November 2017

Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.

Eur J Paediatr Neurol 2017 Nov 22;21(6):873-883. Epub 2017 Jul 22.

Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.ejpn.2017.07.009DOI Listing
November 2017

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Gene 2017 Sep 8;628:141-145. Epub 2017 Jul 8.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.gene.2017.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5607352PMC
September 2017

HIPK2-T566 autophosphorylation diversely contributes to UV- and doxorubicin-induced HIPK2 activation.

Oncotarget 2017 Mar;8(10):16744-16754

Unit of Cellular Networks and Molecular Therapeutic Targets, Department of Research, Advanced Diagnostics, and Technological Innovation, Regina Elena National Cancer Institute - IRCCS, Rome, Italy.

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http://dx.doi.org/10.18632/oncotarget.14421DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5369998PMC
March 2017

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Eur J Paediatr Neurol 2017 May 19;21(3):475-484. Epub 2016 Dec 19.

University of Torino, Department of Medical Sciences, 10126, Turin, Italy; Città della Salute e della Scienza University Hospital, Medical Genetics Unit, Turin, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2016.12.005DOI Listing
May 2017

Congenital immunodeficiency in an individual with Wiedemann-Steiner syndrome due to a novel missense mutation in KMT2A.

Am J Med Genet A 2016 09 20;170(9):2389-93. Epub 2016 Jun 20.

Genetic Disorders and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCSS, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37681DOI Listing
September 2016

The open state of human topoisomerase I as probed by molecular dynamics simulation.

Nucleic Acids Res 2007 16;35(9):3032-8. Epub 2007 Apr 16.

CASPUR Inter-University Consortium for the Application of Super-Computing for Universities and Research, Via dei Tizii 6, Rome 00185, Italy.

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https://academic.oup.com/nar/article-lookup/doi/10.1093/nar/
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http://dx.doi.org/10.1093/nar/gkm199DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1888835PMC
June 2007

Effect on DNA relaxation of the single Thr718Ala mutation in human topoisomerase I: a functional and molecular dynamics study.

Nucleic Acids Res 2005 8;33(10):3339-50. Epub 2005 Jun 8.

CASPUR Interuniversities Consortium for Supercomputing Applications Via dei Tizii 6b, Rome 00185, Italy.

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http://dx.doi.org/10.1093/nar/gki642DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1145191PMC
June 2005

Single mutation in the linker domain confers protein flexibility and camptothecin resistance to human topoisomerase I.

J Biol Chem 2003 Oct 6;278(44):43268-75. Epub 2003 Aug 6.

Department of Biology, University of Padua, Via U. Bassi 58/B, Padua 35131, Italy.

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http://dx.doi.org/10.1074/jbc.M303899200DOI Listing
October 2003