Brunella Franco

Brunella Franco

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Brunella Franco

Brunella Franco

Publications by authors named "Brunella Franco"

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The Autophagy-Cilia Axis: An Intricate Relationship.

Cells 2019 Aug 15;8(8). Epub 2019 Aug 15.

Telethon Institute of Genetics and Medicine (TIGEM), Via Campi Flegrei, 34, 80078 Pozzuoli, Naples, Italy.

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http://dx.doi.org/10.3390/cells8080905DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6721705PMC
August 2019

Oral-facial-digital syndrome type I cells exhibit impaired DNA repair; unanticipated consequences of defective OFD1 outside of the cilia network.

Hum Mol Genet 2017 01;26(1):19-32

Human DNA damage Response Disorders Group, Genome Damage & Stability Centre, School of Life Sciences, University of Sussex, Falmer, Brighton, UK.

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http://dx.doi.org/10.1093/hmg/ddw364DOI Listing
January 2017

Synthetic long non-coding RNAs [SINEUPs] rescue defective gene expression in vivo.

Sci Rep 2016 06 6;6:27315. Epub 2016 Jun 6.

Telethon Institute of Genetics and Medicine (TIGEM), 80078, Via Campi Flegrei 34, Pozzuoli (NA), Italy.

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http://dx.doi.org/10.1038/srep27315DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4893607PMC
June 2016

Update on oral-facial-digital syndromes (OFDS).

Cilia 2016 2;5:12. Epub 2016 May 2.

EA GAD, IFR Santé-STIC, Université de Bourgogne, Dijon, France ; Centre de Référence Maladies Rares « Anomalies du Développement et Syndromes malformatifs » de l'Est, Centre de Génétique et Pédiatrie 1, Hôpital d'Enfants, CHU Dijon, Dijon, France.

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http://dx.doi.org/10.1186/s13630-016-0034-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4852435PMC
May 2016

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Hum Mol Genet 2016 Feb 7;25(3):497-513. Epub 2015 Dec 7.

Equipe d'Accueil 4271, Génétique des Anomalies du Développement, Université Fédérale Bourgogne - Franche Comté, F-21079 Dijon, France, Fédération Hospitalo-Universitaire Médecine Translationnelle et Anomalies du Développement (TRANSLAD), Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est,

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http://dx.doi.org/10.1093/hmg/ddv488DOI Listing
February 2016

Metabolic regulation of the ultradian oscillator Hes1 by reactive oxygen species.

J Mol Biol 2015 May 18;427(10):1887-902. Epub 2015 Mar 18.

Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, 80078 Naples, Italy; Department of Electrical Engineering and Information Technology, University of Naples Federico II, 80138 Napoli, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jmb.2015.03.007DOI Listing
May 2015

A network-based approach to dissect the cilia/centrosome complex interactome.

BMC Genomics 2014 Aug 7;15:658. Epub 2014 Aug 7.

Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

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http://dx.doi.org/10.1186/1471-2164-15-658DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4137083PMC
August 2014

Autophagy promotes primary ciliogenesis by removing OFD1 from centriolar satellites.

Nature 2013 Oct 2;502(7470):254-7. Epub 2013 Oct 2.

Center for Autophagy Research, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390, USA.

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http://www.nature.com/articles/nature12606
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http://dx.doi.org/10.1038/nature12606DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4075283PMC
October 2013

The primary cilium in different tissues-lessons from patients and animal models.

Pediatr Nephrol 2011 May 3;26(5):655-62. Epub 2010 Oct 3.

Telethon Institute of Genetics and Medicine, Via Pietro Castellino, Naples, Italy.

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http://dx.doi.org/10.1007/s00467-010-1650-7DOI Listing
May 2011

Ofd1 is required in limb bud patterning and endochondral bone development.

Dev Biol 2011 Jan 14;349(2):179-91. Epub 2010 Oct 14.

Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, Naples, Italy.

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http://dx.doi.org/10.1016/j.ydbio.2010.09.020DOI Listing
January 2011

The molecular basis of oral-facial-digital syndrome, type 1.

Am J Med Genet C Semin Med Genet 2009 Nov;151C(4):318-25

Department of Pediatrics of the Federico II University of Naples, Italy.

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http://dx.doi.org/10.1002/ajmg.c.30224DOI Listing
November 2009

The dynamic cilium in human diseases.

Pathogenetics 2009 May 13;2(1). Epub 2009 May 13.

Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

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http://pathogeneticsjournal.biomedcentral.com/articles/10.11
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http://dx.doi.org/10.1186/1755-8417-2-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2694804PMC
May 2009

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Hum Mutat 2008 Oct;29(10):1237-46

Telethon Institute of Genetics and Medicine (TIGEM), Naples, Italy.

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http://dx.doi.org/10.1002/humu.20792DOI Listing
October 2008

Oral-facial-digital syndromes: review and diagnostic guidelines.

Am J Med Genet A 2007 Dec;143A(24):3314-23

Istituto di Genetica Medica, Università Cattolica Facoltà di Medicina, Roma, Italy.

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http://doi.wiley.com/10.1002/ajmg.a.32032
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http://dx.doi.org/10.1002/ajmg.a.32032DOI Listing
December 2007

Oral-facial digital syndrome type 1.

Indian Pediatr 2007 Nov;44(11):854-6

Akdeniz University School of Medicine Department of Pediatrics, Antalya, Turkey.

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November 2007

Buccal anomalies, cephalometric analysis and genetic study of two sisters with orofaciodigital syndrome type I.

Cleft Palate Craniofac J 2007 Nov;44(6):660-6

Department of Pediatric Dentistry and Orthodontics, Rey Juan Carlos University, and Hospital 12 de Octubre, Madrid, Spain.

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http://journals.sagepub.com/doi/10.1597/06-225.1
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http://dx.doi.org/10.1597/06-225.1DOI Listing
November 2007

Terminal osseous dysplasia with pigmentary defects: clinical description of a new family.

Am J Med Genet A 2007 Jan;143A(1):51-7

Unit of Medical Genetics, ASL, Imola, Italy.

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http://dx.doi.org/10.1002/ajmg.a.31557DOI Listing
January 2007

Oral-facial-digital syndrome type 1, Caroli's disease and cystic renal disease.

Nephrol Dial Transplant 2006 Jun 29;21(6):1705-9. Epub 2005 Dec 29.

Department of Nephrology, Medical School of Ege University, Izmir, Turkey.

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http://dx.doi.org/10.1093/ndt/gfk013DOI Listing
June 2006

X-inactivation and human disease: X-linked dominant male-lethal disorders.

Curr Opin Genet Dev 2006 Jun 2;16(3):254-9. Epub 2006 May 2.

Telethon Institute of Genetics and Medicine (TIGEM), Via Pietro Castellino 111, 80131, Naples, Italy.

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http://dx.doi.org/10.1016/j.gde.2006.04.012DOI Listing
June 2006

Oral-facial-digital type I protein is required for primary cilia formation and left-right axis specification.

Nat Genet 2006 Jan 27;38(1):112-7. Epub 2005 Nov 27.

Telethon Institute of Genetics and Medicine, via P. Castellino 111, 80131 Naples, Italy.

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http://www.nature.com/articles/ng1684
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http://dx.doi.org/10.1038/ng1684DOI Listing
January 2006

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

Hum Mol Genet 2005 Dec 5;14(24):3775-86. Epub 2005 Dec 5.

Department of Neurobiology, Pharmacology and Physiology, and Ben May Institute for Cancer Research, University of Chicago, IL 60637, USA.

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http://academic.oup.com/hmg/article/14/24/3775/2355843/CDKL5
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http://dx.doi.org/10.1093/hmg/ddi391DOI Listing
December 2005

Novel functional features of the Lis-H domain: role in protein dimerization, half-life and cellular localization.

Cell Cycle 2005 Nov 7;4(11):1632-40. Epub 2005 Nov 7.

The Department of Molecular Genetics, The Weizmann Institute of Science, Rehovot, Israel.

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http://dx.doi.org/10.4161/cc.4.11.2151DOI Listing
November 2005

Oral, facial, digital, vertebral anomalies with psychomotor delay: a mild form of OFD type Gabrielli?

Am J Med Genet 2002 Dec;113(3):291-4

Department of Pediatrics, University of Torino, Piazza Polonia 94, 10126 Turin, Italy.

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http://dx.doi.org/10.1002/ajmg.10815DOI Listing
December 2002