Publications by authors named "Roberto Ravazzolo"

100Publications

Identification of reference genes for quantitative PCR during C3H10T1/2 chondrogenic differentiation.

Mol Biol Rep 2019 Jun 7;46(3):3477-3485. Epub 2019 Mar 7.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), Università degli Studi di Genova, 16132, Genova, Italy.

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http://dx.doi.org/10.1007/s11033-019-04713-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548758PMC
June 2019

The Horizon of a Therapy for Rare Genetic Diseases: A "Druggable" Future for Fibrodysplasia Ossificans Progressiva.

Int J Mol Sci 2018 Mar 26;19(4). Epub 2018 Mar 26.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, 16132 Genoa, Italy.

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http://dx.doi.org/10.3390/ijms19040989DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5979309PMC
March 2018

Correction to: Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Clin Rheumatol 2018 03;37(3):857

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco.

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http://dx.doi.org/10.1007/s10067-017-3909-xDOI Listing
March 2018

Hints on transcriptional control of essential players in heterotopic ossification of Fibrodysplasia Ossificans Progressiva.

Bone 2018 04 31;109:187-191. Epub 2017 Oct 31.

DINOGMI Department, University of Genova, Genova, Italy; Medical Genetics Unit, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.bone.2017.10.028DOI Listing
April 2018

Genetic inactivation of mGlu5 receptor improves motor coordination in the Grm1 mouse model of SCAR13 ataxia.

Neurobiol Dis 2018 Jan 2;109(Pt A):44-53. Epub 2017 Oct 2.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, via Gaslini 5, 16148 Genoa, Italy; Centre of Excellence for Biomedical Research (CEBR), University of Genoa, Viale Benedetto XV 9, 16132 Genoa, Italy; Medical Genetics Unit, Istituto Giannina Gaslini, via Gaslini 5, 16148 Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2017.10.001DOI Listing
January 2018

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization.

J Rheumatol 2017 Nov 15;44(11):1667-1673. Epub 2017 Sep 15.

From these departments of the Istituto Giannina Gaslini, Genoa: Unità Operativa Complessa (UOC) Genetica Medica, UO Pediatria II, Laboratorio Fisiopatologia dell'Uremia, Core facilities, and Neuroradiology Unit; Institute for Maternal and Child Health, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Burlo Garofolo, Trieste; Department of Pediatrics, Immunology and Rheumatology Section, University of Pisa, Pisa; Division of Rheumatology, Department of Pediatric Medicine, Bambino Gesù Children's Hospital, IRCCS, Rome; Pediatric Clinic, Azienda Socio Sanitaria Territoriale (ASST) Spedali Civili and University of Brescia, Brescia; Amyloidosis Research and Treatment Centre, Biotechnology Research Laboratories, Fondazione IRCCS Policlinico San Matteo, Pavia; Department of Pediatrics, Azienda G. Martino, University of Messina, Messina; Department of Pediatrics, Immunology and Rheumatology, University of Torino, Torino; Cell Biology Unit, IRCCS L'Azienda Ospedaliera Universitaria (AOU) San Martino, San Martino, Italy; Department of Immunology, Hospital Clínic-Institut d'Investigacions Biomdiques August Pi i Sunyer (IDIBAPS), Barcelona, Spain; Department of Pediatrics, Graduate School of Medicine, Kyoto University, Kyoto, Japan.

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http://dx.doi.org/10.3899/jrheum.170041DOI Listing
November 2017

Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.

Biochim Biophys Acta Mol Basis Dis 2017 07 20;1863(7):1770-1777. Epub 2017 Apr 20.

UOC Genetica Medica, Istituto Giannina Gaslini, 16148, Genova, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2017.04.017DOI Listing
July 2017

Phenotypic characterization of Grm1 mice reveals a functional role for the type 1 metabotropic glutamate receptor in bone mineralization.

Bone 2017 Jan 27;94:114-123. Epub 2016 Oct 27.

DiNOGMI, University of Genoa, via Gaslini 5, 16148 Genoa, Italy; Medical Genetics Unit, Istituto Giannina Gaslini, via Gaslini 5, 16148 Genoa, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2016.10.025DOI Listing
January 2017

High-throughput screening for modulators of ACVR1 transcription: discovery of potential therapeutics for fibrodysplasia ossificans progressiva.

Dis Model Mech 2016 06 28;9(6):685-96. Epub 2016 Apr 28.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health and CEBR, Università degli Studi di Genova, Genova 16132, Italy Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy

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http://dx.doi.org/10.1242/dmm.023929DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4920148PMC
June 2016

Hypogonadotropic hypogonadism in a trisomy X carrier: phenotype description and genotype correlation.

Gynecol Endocrinol 2016 16;32(1):14-7. Epub 2015 Nov 16.

d UOC Genetica Medica, Istituto Giannina Gaslini , Genova , Italy , and.

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http://dx.doi.org/10.3109/09513590.2015.1106472DOI Listing
December 2016

IL12RB2 Polymorphisms correlate with risk of lung adenocarcinoma.

Immunobiology 2016 Feb 29;221(2):291-9. Epub 2015 Oct 29.

U.O.C. Laboratorio di Oncologia, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.imbio.2015.10.006DOI Listing
February 2016

New insights into central nervous system involvement in FOP: Case report and review of the literature.

Am J Med Genet A 2015 Nov 4;167A(11):2817-21. Epub 2015 Aug 4.

Giannina Gaslini Institute, Rare Diseases, Pediatric, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.37271DOI Listing
November 2015

miR-204 mediates post-transcriptional down-regulation of PHOX2B gene expression in neuroblastoma cells.

Biochim Biophys Acta 2015 Aug 3;1849(8):1057-65. Epub 2015 Jul 3.

UOC Genetica Medica, Istituto Giannina Gaslini, 16147 Genova, Italy. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S18749399150013
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http://dx.doi.org/10.1016/j.bbagrm.2015.06.008DOI Listing
August 2015

Identification of novel pathways and molecules able to down-regulate PHOX2B gene expression by in vitro drug screening approaches in neuroblastoma cells.

Exp Cell Res 2015 Aug 13;336(1):43-57. Epub 2015 Apr 13.

U.O.C. Genetica Medica, Istituto Giannina Gaslini, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.yexcr.2015.03.025DOI Listing
August 2015

Symmetric curvature descriptors for label-free analysis of DNA.

Sci Rep 2014 Sep 24;4:6459. Epub 2014 Sep 24.

Department of Physics, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1038/srep06459DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5377314PMC
September 2014

Periostin gene variants are associated with disease course and severity in juvenile idiopathic arthritis.

Clin Exp Rheumatol 2014 Sep-Oct;32(5):747-53. Epub 2014 Sep 19.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Genova, Italy.

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December 2014

De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.

BMC Med Genet 2014 May 30;15:63. Epub 2014 May 30.

Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DiNOGMI), University of Genoa, Genoa, Italy.

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http://dx.doi.org/10.1186/1471-2350-15-63DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4051386PMC
May 2014

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

Hum Mol Genet 2014 Oct 22;23(20):5364-77. Epub 2014 May 22.

Berlin-Brandenburg Center for Regenerative Therapies (BCRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany, Berlin Brandenburg School for Regenerative Therapies (BSRT), Charité-Universitätsmedizin Berlin, 13353 Berlin, Germany Research Group Development and Disease, Max-Planck-Institut für Molekulare Genetik, 14195 Berlin, Germany

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http://dx.doi.org/10.1093/hmg/ddu255DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4168825PMC
October 2014

Expression variability and function of the RET gene in adult peripheral blood mononuclear cells.

J Cell Physiol 2014 Dec;229(12):2027-37

U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/jcp.24660DOI Listing
December 2014

Identification and characterization of regulatory elements in the promoter of ACVR1, the gene mutated in Fibrodysplasia Ossificans Progressiva.

Orphanet J Rare Dis 2013 Sep 18;8:145. Epub 2013 Sep 18.

Department of Neurosciences, Rehabilitation, Ophthalmogy, Genetics, Maternal and Child Health and CEBR, Università degli Studi di Genova, Genova, Italy.

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http://dx.doi.org/10.1186/1750-1172-8-145DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4015442PMC
September 2013

Non-canonical translation start sites in the TMEM16A chloride channel.

Biochim Biophys Acta 2014 Jan 28;1838(1 Pt B):89-97. Epub 2013 Aug 28.

U.O.C. Genetica Medica, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.bbamem.2013.08.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3898931PMC
January 2014

Mutations in DSTYK and dominant urinary tract malformations.

N Engl J Med 2013 Aug 17;369(7):621-9. Epub 2013 Jul 17.

Divisions of Nephrology (S.S.-C., R.V.S., N.P., K.E.B., S.N.N., B.J.P., P.L.W., M.V., F.L., R.S., N.P., N.K., K.K., Q.A.-A., A.G.G.) and Pediatric Nephrology (P.L.W.) and the Department of Pathology (V.D.D.), Columbia University, and the Department of Medicine, St. Luke's-Roosevelt Hospital Center (S.S.-C.), New York; the Department of Genetics, Howard Hughes Medical Institute, and Yale Center for Mendelian Genomics, Yale University, New Haven, CT (M.C., M.S., R.P.L.); the Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, South Korea (M.C.); the Division of Nephrology, Dialysis, and Transplantation (M.B., F.L., G.C., A.C., M.D., C.M., G.P., G.M.G.) and Laboratory of Molecular Genetics (G.S., R.R.), Istituto Giannina Gaslini, the Division of Nephrology, Department of Internal Medicine (M.B.), and Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica e Scienze Materno Infantili (R.R.), University of Genoa, and IRCCS San Martino-IST (M.B.), Genoa; Cattedra di Nefrologia, Università di Brescia, Seconda Divisione di Nefrologia Azienda Ospedaliera Spedali Civili di Brescia Presidio di Montichiari, Brescia (C.I., F.S.); the Department of Clinical Medicine, Nephrology, and Health Sciences, Unit of Nephrology, University of Parma, Parma (B.B., S.G., L.A.); the Department of Medical and Surgical Sciences, University of Foggia, Foggia (M.G.); the Department of Emergency and Organ Transplantation, University of Bari, Bari (L.G.); and the Division of Nephrology and Dialysis, Hospital of Alghero, Alghero (D.C.) - all in Italy; the Nephrology Division, Massachusetts General Hospital (Y.L., I.A.D.), and Department of Genetics, Harvard Medical School (I.A.D.), Charlestown, MA; University Children's Hospital, Medical School of Skopje, Skopje, Macedonia (V.J.L., N.R.-B., Z.G., V.T.); the Department of Medical Genetics, Poznan University of Medical Sciences, Poznan, Poland (A.M.-K., A.L.-B.); and the Department of Pediatrics, University Hospital of Split (D.K.V., M.S.), and the Department of Anatomy, Histology, and Embryology (K.V., M.S.-B.), School of Medicine (M.S.), University of Split, Split, Croatia.

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http://dx.doi.org/10.1056/NEJMoa1214479DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3846391PMC
August 2013

Epithelial sodium channel silencing as a strategy to correct the airway surface fluid deficit in cystic fibrosis.

Am J Respir Cell Mol Biol 2013 Sep;49(3):445-52

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G. Gaslini 5, Genoa, Italy.

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http://dx.doi.org/10.1165/rcmb.2012-0408OCDOI Listing
September 2013

TMEM16A-TMEM16B chimaeras to investigate the structure-function relationship of calcium-activated chloride channels.

Biochem J 2013 Jun;452(3):443-55

U.O.C. Genetica Medica, Istituto Giannina Gaslini, Via Gerolamo Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1042/BJ20130348DOI Listing
June 2013

EEC- and ADULT-associated TP63 mutations exhibit functional heterogeneity toward P63 responsive sequences.

Hum Mutat 2013 Jun 2;34(6):894-904. Epub 2013 Apr 2.

Molecular Mutagenesis and DNA Repair Unit, Istituto di Ricerca e Cura a Carattere Scientifico Azienda Ospedaliera Universitaria San Martino-IST-Istituto Nazionale per la Ricerca sul Cancro, Genoa, Italy.

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http://dx.doi.org/10.1002/humu.22304DOI Listing
June 2013

Hand and upper limb anomalies in Poland syndrome: a new proposal of classification.

J Pediatr Orthop 2012 Oct-Nov;32(7):727-31

Microsurgery and Hand Surgery Unit-Orthopaedics and Traumatology Department, G. Gaslini Institute, Genoa, Italy.

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http://dx.doi.org/10.1097/BPO.0b013e318269c898DOI Listing
February 2013

Beneficial effects of curcumin on GFAP filament organization and down-regulation of GFAP expression in an in vitro model of Alexander disease.

Exp Cell Res 2012 Sep 15;318(15):1844-54. Epub 2012 Jun 15.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Via Gerolamo Gaslini, 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1016/j.yexcr.2012.06.008DOI Listing
September 2012

Label-free, atomic force microscopy-based mapping of DNA intrinsic curvature for the nanoscale comparative analysis of bent duplexes.

Nucleic Acids Res 2012 Jun 8;40(11):e84. Epub 2012 Mar 8.

S.C. Nanobiotecnologie, National Institute for Cancer Research IST, Genova, Italy.

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http://dx.doi.org/10.1093/nar/gks210DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3367213PMC
June 2012

Familial Poland anomaly revisited.

Am J Med Genet A 2012 Jan 22;158A(1):140-9. Epub 2011 Nov 22.

Cardiology and Cardiosurgical Department, Bambino Gesù Pediatric Hospital, Rome, Italy.

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http://dx.doi.org/10.1002/ajmg.a.34370DOI Listing
January 2012

In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins.

Neurobiol Dis 2012 Jan 21;45(1):508-18. Epub 2011 Sep 21.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1016/j.nbd.2011.09.007DOI Listing
January 2012

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

Authors:
Sébastien Jacquemont Alexandre Reymond Flore Zufferey Louise Harewood Robin G Walters Zoltán Kutalik Danielle Martinet Yiping Shen Armand Valsesia Noam D Beckmann Gudmar Thorleifsson Marco Belfiore Sonia Bouquillon Dominique Campion Nicole de Leeuw Bert B A de Vries Tõnu Esko Bridget A Fernandez Fernando Fernández-Aranda José Manuel Fernández-Real Mònica Gratacòs Audrey Guilmatre Juliane Hoyer Marjo-Riitta Jarvelin R Frank Kooy Ants Kurg Cédric Le Caignec Katrin Männik Orah S Platt Damien Sanlaville Mieke M Van Haelst Sergi Villatoro Gomez Faida Walha Bai-Lin Wu Yongguo Yu Azzedine Aboura Marie-Claude Addor Yves Alembik Stylianos E Antonarakis Benoît Arveiler Magalie Barth Nathalie Bednarek Frédérique Béna Sven Bergmann Mylène Beri Laura Bernardini Bettina Blaumeiser Dominique Bonneau Armand Bottani Odile Boute Han G Brunner Dorothée Cailley Patrick Callier Jean Chiesa Jacqueline Chrast Lachlan Coin Charles Coutton Jean-Marie Cuisset Jean-Christophe Cuvellier Albert David Bénédicte de Freminville Bruno Delobel Marie-Ange Delrue Bénédicte Demeer Dominique Descamps Gérard Didelot Klaus Dieterich Vittoria Disciglio Martine Doco-Fenzy Séverine Drunat Bénédicte Duban-Bedu Christèle Dubourg Julia S El-Sayed Moustafa Paul Elliott Brigitte H W Faas Laurence Faivre Anne Faudet Florence Fellmann Alessandra Ferrarini Richard Fisher Elisabeth Flori Lukas Forer Dominique Gaillard Marion Gerard Christian Gieger Stefania Gimelli Giorgio Gimelli Hans J Grabe Agnès Guichet Olivier Guillin Anna-Liisa Hartikainen Délphine Heron Loyse Hippolyte Muriel Holder Georg Homuth Bertrand Isidor Sylvie Jaillard Zdenek Jaros Susana Jiménez-Murcia Géraldine Joly Helas Philippe Jonveaux Satu Kaksonen Boris Keren Anita Kloss-Brandstätter Nine V A M Knoers David A Koolen Peter M Kroisel Florian Kronenberg Audrey Labalme Emilie Landais Elisabetta Lapi Valérie Layet Solenn Legallic Bruno Leheup Barbara Leube Suzanne Lewis Josette Lucas Kay D MacDermot Pall Magnusson Christian Marshall Michèle Mathieu-Dramard Mark I McCarthy Thomas Meitinger Maria Antonietta Mencarelli Giuseppe Merla Alexandre Moerman Vincent Mooser Fanny Morice-Picard Mafalda Mucciolo Matthias Nauck Ndeye Coumba Ndiaye Ann Nordgren Laurent Pasquier Florence Petit Rolph Pfundt Ghislaine Plessis Evica Rajcan-Separovic Gian Paolo Ramelli Anita Rauch Roberto Ravazzolo Andre Reis Alessandra Renieri Cristobal Richart Janina S Ried Claudine Rieubland Wendy Roberts Katharina M Roetzer Caroline Rooryck Massimiliano Rossi Evald Saemundsen Véronique Satre Claudia Schurmann Engilbert Sigurdsson Dimitri J Stavropoulos Hreinn Stefansson Carola Tengström Unnur Thorsteinsdóttir Francisco J Tinahones Renaud Touraine Louis Vallée Ellen van Binsbergen Nathalie Van der Aa Catherine Vincent-Delorme Sophie Visvikis-Siest Peter Vollenweider Henry Völzke Anneke T Vulto-van Silfhout Gérard Waeber Carina Wallgren-Pettersson Robert M Witwicki Simon Zwolinksi Joris Andrieux Xavier Estivill James F Gusella Omar Gustafsson Andres Metspalu Stephen W Scherer Kari Stefansson Alexandra I F Blakemore Jacques S Beckmann Philippe Froguel

Nature 2011 Aug 31;478(7367):97-102. Epub 2011 Aug 31.

Service of Medical Genetics, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1038/nature10406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3637175PMC
August 2011

A minimal isoform of the TMEM16A protein associated with chloride channel activity.

Biochim Biophys Acta 2011 Sep 30;1808(9):2214-23. Epub 2011 May 30.

Laboratorio di Genetica Molecolare, Largo Gerolamo Gaslini, Istituto Giannina Gaslini, 16147 Genova, Italy.

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http://dx.doi.org/10.1016/j.bbamem.2011.05.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3130926PMC
September 2011

Nephrin expression in adult rodent central nervous system and its interaction with glutamate receptors.

J Pathol 2011 Sep 1;225(1):118-28. Epub 2011 Jun 1.

Renal Research Laboratory, Department of Nephrology, Dialysis and Renal Transplantation, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico and Fondazione D'Amico per la Ricerca sulle Malattie Renali, Milan, Italy.

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http://doi.wiley.com/10.1002/path.2923
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http://dx.doi.org/10.1002/path.2923DOI Listing
September 2011

Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.

J Mol Med (Berl) 2011 May 19;89(5):505-13. Epub 2011 Feb 19.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo Gerolamo Gaslini 5, Genoa, Italy.

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http://link.springer.com/10.1007/s00109-010-0718-y
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http://dx.doi.org/10.1007/s00109-010-0718-yDOI Listing
May 2011

Functional characterization of a minimal sequence essential for the expression of human TLX2 gene.

BMB Rep 2009 Dec;42(12):788-93

Laboratorio di Genetica Molecolare, Istituto G Gaslini Universita di Genova, Italy.

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http://dx.doi.org/10.5483/bmbrep.2009.42.12.788DOI Listing
December 2009

Regulation of TMEM16A chloride channel properties by alternative splicing.

J Biol Chem 2009 Nov 9;284(48):33360-8. Epub 2009 Oct 9.

Laboratory of Molecular Genetics, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16147 Genova.

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http://dx.doi.org/10.1074/jbc.M109.046607DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2785179PMC
November 2009

Rarely occurring mutation of ACVR1 gene in Moroccan patient with fibrodysplasia ossificans progressiva.

Clin Rheumatol 2010 01 1;29(1):119-21. Epub 2009 Oct 1.

Department of Medical Genetics, National Institute of Health, 27 Avenue Ibn Batouta, BP 769, 11400, Rabat, Morocco.

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http://dx.doi.org/10.1007/s10067-009-1283-zDOI Listing
January 2010

C-type natriuretic peptide and overgrowth.

Endocr Dev 2009 27;14:61-6. Epub 2009 Feb 27.

Laboratory of Molecular Genetics, G. Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1159/000207477DOI Listing
May 2009

Association of alleles at polymorphic sites in the Osteopontin encoding gene in young type 1 diabetic patients.

Clin Immunol 2009 Apr 12;131(1):84-91. Epub 2009 Jan 12.

Laboratory of Molecular Genetics, G. Gaslini Institute, Genova, Italy.

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http://dx.doi.org/10.1016/j.clim.2008.11.004DOI Listing
April 2009

Epithelial sodium channel inhibition in primary human bronchial epithelia by transfected siRNA.

Am J Respir Cell Mol Biol 2009 Feb 21;40(2):211-6. Epub 2008 Aug 21.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L.go G. Gaslini, 5, Genova, I-16148, Italy.

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http://dx.doi.org/10.1165/rcmb.2007-0456OCDOI Listing
February 2009

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

Biochem J 2008 Jul;413(1):135-42

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L.go Gerolamo Gaslini 5, 16147 Genova, Italy.

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http://dx.doi.org/10.1042/BJ20080029DOI Listing
July 2008

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.

Am J Med Genet A 2008 Feb;146A(3):384-8

Laboratory of Molecular Genetics, G. Gaslini Hospital, Genova, Italy.

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http://dx.doi.org/10.1002/ajmg.a.32111DOI Listing
February 2008

Genomic approaches in genetic research for endocrine diseases.

Endocr Dev 2007 ;11:1-5

Laboratory of Molecular Genetics, G. Gaslini Institute, and Department of Pediatrics and CEBR, University of Genova, Genova, Italy.

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http://dx.doi.org/10.1159/000111051DOI Listing
February 2008

Teaching molecular genetics: chapter 4-positional cloning of genetic disorders.

Pediatr Nephrol 2007 Dec 28;22(12):2023-9. Epub 2007 Jul 28.

Laboratory of Molecular Genetics, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00467-007-0548-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2908434PMC
December 2007

Structure-activity relationship of 1,4-dihydropyridines as potentiators of the cystic fibrosis transmembrane conductance regulator chloride channel.

Mol Pharmacol 2007 Jul 23;72(1):197-207. Epub 2007 Apr 23.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L.go Gerolamo Gaslini 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1124/mol.107.034702DOI Listing
July 2007

Proteomic analysis of the airway surface liquid: modulation by proinflammatory cytokines.

Am J Physiol Lung Cell Mol Physiol 2007 Jan;292(1):L185-98

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G. Gaslini 5, Genoa 16148, Italy.

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http://dx.doi.org/10.1152/ajplung.00085.2006DOI Listing
January 2007

Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions.

Int J Biochem Cell Biol 2007 14;39(2):327-39. Epub 2006 Sep 14.

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, Largo G. Gaslini 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1016/j.biocel.2006.08.014DOI Listing
June 2007

Nuclear factor Y drives basal transcription of the human TLX3, a gene overexpressed in T-cell acute lymphocytic leukemia.

Mol Cancer Res 2006 Sep;4(9):635-43

Laboratorio di Genetica Molecolare, Istituto Giannina Gaslini, L.go Gerolamo Gaslini, 5, 16148 Genova, Italy.

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http://dx.doi.org/10.1158/1541-7786.MCR-05-0250DOI Listing
September 2006

The immediate upstream sequence of the mouse Ret gene controls tissue-specific expression in transgenic mice.

Int J Mol Med 2006 Oct;18(4):601-8

Laboratory of Molecular Genetics, Giannina Gaslini Institute, 16147 Genoa, Italy.

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October 2006