Elisabetta Flex

Elisabetta Flex

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Elisabetta Flex

Elisabetta Flex

Publications by authors named "Elisabetta Flex"

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35Publications

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

Am J Hum Genet 2019 Sep 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

Biallelic mutations in early-onset, variably progressive neurodegeneration.

Neurology 2018 07 29;91(4):e319-e330. Epub 2018 Jun 29.

From the Genetics and Rare Diseases Research Division (V.M., G.C., T.R., M.D.N., A.C., F.P., R.C., M.T.), Ospedale Pediatrico Bambino Gesù; Department of Oncology and Molecular Medicine (E.F., S.M.) and Confocal Microscopy Unit (S.C.), Core Facilities, Istituto Superiore di Sanità, Rome, Italy; Center for Human Disease Modeling (Z.K., M.M.K., N.K.), Duke University School of Medicine, Durham, NC; Institutes of Neurology (G.P., S.S.) and Nuclear Medicine (D.D.G.), Università Cattolica del Sacro Cuore, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy; Department of Genetics (H.G., N.M.), Faculty of Science, Shahid Chamran University of Ahvaz; Narges Medical Genetics and Prenatal Diagnosis Laboratory (H.G., N.M., A. Sedaghat, J.Z., G.R.S.), Kianpars, Ahvaz; Research and Clinical Center for Infertility (M.D.), Yazd Reproductive Sciences Institute, Medical Genetics Research Centre (M.D., M.Y.V.M.), and Department of Medical Genetics (M.Y.V.M.), Shahid Sadoughi University of Medical Sciences, Yazd, Iran; Department of Experimental Medicine (A.T., V.C.), Università "Sapienza," Rome, Italy; Genetics and Molecular Cell Sciences Research Centre (Y.J., R.M.), St. George's University of London, UK; Department of Paediatric Neurology (R.A.M.), Golestan Medical, Educational, and Research Center, and Department of Medical Genetics (G.R.S.), Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Iran; University of Exeter Medical School (A.R.J.), RILD, Royal Devon & Exeter Hospital, UK; and Department of Neurology (A. Sherafat), Kerman University of Medical Sciences, Iran.

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http://www.neurology.org/lookup/doi/10.1212/WNL.000000000000
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http://dx.doi.org/10.1212/WNL.0000000000005869DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070386PMC
July 2018

Distinct Acute Lymphoblastic Leukemia (ALL)-associated Janus Kinase 3 (JAK3) Mutants Exhibit Different Cytokine-Receptor Requirements and JAK Inhibitor Specificities.

J Biol Chem 2015 Nov 7;290(48):29022-34. Epub 2015 Oct 7.

From the Ludwig Institute for Cancer Research, Brussels Branch and the de Duve Institute, Université Catholique de Louvain, 1200 Brussels, Belgium, the Hematology Unit, Cliniques Universitaires Saint-Luc, 1200 Brussels, Belgium, and

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http://dx.doi.org/10.1074/jbc.M115.670224DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4661414PMC
November 2015

Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia.

Cell Rep 2015 Oct 8;13(3):504-515. Epub 2015 Oct 8.

The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2015.09.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4618050PMC
October 2015

Cooperating JAK1 and JAK3 mutants increase resistance to JAK inhibitors.

Blood 2014 Dec 28;124(26):3924-31. Epub 2014 Oct 28.

Ludwig Institute for Cancer Research, Brussels Branch, Belgium; de Duve Institute, Université Catholique de Louvain, Brussels, Belgium;

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http://dx.doi.org/10.1182/blood-2014-05-576652DOI Listing
December 2014

Progressive extreme heterotopic calcification.

Am J Med Genet A 2013 Jul 17;161A(7):1706-13. Epub 2013 May 17.

Dipartimento di Scienze della Sanità Pubblica e Pediatriche, Università di Torino, Torino, Italy.

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http://dx.doi.org/10.1002/ajmg.a.35944DOI Listing
July 2013

Acute lymphoblastic leukemia-associated JAK1 mutants activate the Janus kinase/STAT pathway via interleukin-9 receptor alpha homodimers.

J Biol Chem 2009 Mar 12;284(11):6773-81. Epub 2009 Jan 12.

Ludwig Institute for Cancer Research, Brussels Branch and de Duve Institute, Université Catholique de Louvain, B-1200 Brussels, Belgium.

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http://dx.doi.org/10.1074/jbc.M807531200DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2652315PMC
March 2009

A homozygous GJA1 gene mutation causes a Hallermann-Streiff/ODDD spectrum phenotype.

Hum Mutat 2004 Mar;23(3):286

Ospedale Casa Sollievo della Sofferenza and Istituto CSS-Mendel, Roma, Italy.

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http://doi.wiley.com/10.1002/humu.9220
Publisher Site
http://dx.doi.org/10.1002/humu.9220DOI Listing
March 2004

Epilepsy with auditory features: a LGI1 gene mutation suggests a loss-of-function mechanism.

Ann Neurol 2003 Mar;53(3):396-9

Dipartimento di Medicina Sperimentale e Patologia, Università di Roma La Sapienza and Ospedale Casa Sollievo della Sofferenza San Giovanni Rotondo IRCSS, Istituto Mendel, Rome, Italy.

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http://dx.doi.org/10.1002/ana.10492DOI Listing
March 2003