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Letteratura scientifica

 


2013

Simona Di Lascio, Tiziana Bachetti, Elena Saba, Isabella Ceccherini, Roberta Benfante, Diego Fornasari
Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome,Neurobiology of Disease, Volume 50, February 2013, Pages 187-200, ISSN 0969-9961, 10.1016/j.nbd.2012.10.019
http://www.sciencedirect.com/science/article/pii/S0969996112003476
link al riassunto in italiano del lavoro pubblicato


2012

Eleonora Di Zanni, Tiziana Bachetti, Sara Parodi, Paola Bocca, Ignazia Prigione, Simona Di Lascio, Diego Fornasari, Roberto Ravazzolo, Isabella Ceccherini,
In vitro drug treatments reduce the deleterious effects of aggregates containing polyAla expanded PHOX2B proteins, Neurobiology of Disease, Volume 45, Issue 1, January 2012, Pages 508-518, ISSN 0969-9961, 10.1016/j.nbd.2011.09.007.
http://www.sciencedirect.com/science/article/pii/S0969996111003172
http://www.ncbi.nlm.nih.gov/pubmed/21964250

Parodi S, Di Zanni E, Di Lascio S, Bocca P, Prigione I, Fornasari D, Pennuto M, Bachetti T, Ceccherini I. The E3 ubiquitin ligase TRIM11 mediates the degradation of congenital central hypoventilation syndrome-associated polyalanine-expanded PHOX2B.Journal of Molecular Medicine 2012, DOI: 10.1007/s00109-012-0868-1
http://www.ncbi.nlm.nih.gov/pubmed/22307522
http://www.springerlink.com/content/y602171721091612/

Lamon T, Pontier S, Têtu L, Riviere D, Didier A [The congenital central hypoventilation syndrome (CCHS): a late presentation].Rev Mal Respir. 2012 Mar;29(3):426-9. Epub 2012 Feb 15.
http://www.ncbi.nlm.nih.gov/pubmed/22440308

Simona Di Lascio, Tiziana Bachetti, Elena Saba, Isabella Ceccherini, Roberta Benfante, Diego Fornasari,Transcriptional dysregulation and impairment of PHOX2B auto-regulatory mechanism induced by polyalanine expansion mutations associated with congenital central hypoventilation syndrome,Neurobiology of Disease, Volume 50, February 2013, Pages 187-200, ISSN 0969-9961, 10.1016/j.nbd.2012.10.019.
http://www.sciencedirect.com/science/article/pii/S0969996112003476
http://www.ncbi.nlm.nih.gov/pubmed?term=Congenital%20Central%20Hypoventilation%20Syndrome
http://www.ncbi.nlm.nih.gov/pubmed/?term=Congenital%20Central%20Hypoventilation%20Syndrome%20Ceccherini


2011

Lee CW, Lee JH, Jung EY, Choi SO, Kim CS, Lee SL, Kim DK. Haddad syndrome with PHOX2B gene mutation in a Korean infant.J Korean Med Sci. 2011 Feb;26(2):312-5. Epub 2011 Jan 24.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031022/pdf/jkms-26-312.pdf
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3031022/?tool=pubmed

Tiziana Bachetti, Sara Parodi, Marco Di Duca, Giuseppe Santamaria, Roberto Ravazzolo and Isabella Ceccherini. Low amounts of PHOX2B expanded alleles in asymptomatic parents suggest unsuspected recurrence risk in congenital central hypoventilation syndrome.
Journal of Molecular Medicine Volume 89, Number 5 (2011), 505-513, DOI: 10.1007/s00109-010-0718-y
http://www.ncbi.nlm.nih.gov/pubmed/21336852


2010

Zelko FA, Nelson MN, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: neurocognitive functioning in school age children.Pediatr Pulmonol. 2010 Jan;45(1):92-8.
http://pathways.org/images/mrt_research/Zelko_Nelson_2010.pdf

Straus C, Trang H, Becquemin MH, Touraine P, Similowski T.Chemosensitivity recovery in Ondine’s curse syndrome under treatment with desogestrel.Respir Physiol Neurobiol. 2010 Apr 30;171(2):171-4. Epub 2010 Mar 18.
http://www.cchsnetwork.org/images/stories/PDF/literature/hormone.pdf

Bachetti T, Di Paolo D, Di Lascio S, Mirisola V, Brignole C, et al. (2010) PHOX2B-Mediated Regulation of ALK Expression: In Vitro Identification of a Functional Relationship between Two Genes Involved in Neuroblastoma. PLoS ONE 5(10): e13108. doi:10.1371/journal.pone.0013108
http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0013108#references
http://www.plosone.org/article/fetchObjectAttachment.action;jsessionid=D8545B165332859196F72C05180DDC8D?uri=info%3Adoi%2F10.1371%2Fjournal.pone.0013108&representation=PDF

Debra E. Weese-Mayer, Elizabeth M. Berry-Kravis, Isabella Ceccherini, Thomas G. Keens, Darius A. Loghmanee, and Ha Trang, on behalf of the ATS Congenital Central Hypoventilation Syndrome Subcommittee. An Official ATS Clinical Policy Statement: Congenital Central Hypoventilation Syndrome Genetic Basis, Diagnosis, and Management
Am J Respir Crit Care Med Vol 181. pp 626–644, 2010
http://ajrccm.atsjournals.org/content/181/6/626.long
http://ajrccm.atsjournals.org/content/181/6/626.full.pdf+html

Patwari PP, Carroll MS, Rand CM, Kumar R, Harper R, Weese-Mayer DE. Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.
Respir Physiol Neurobiol. 2010 Oct 31;173(3):322-35. Epub 2010 Jun 30.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946468/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2946468/pdf/nihms-217872.pdf

Parodi S, Vollono C, Baglietto MP, Balestri M, Di Duca M, Landri PA, Ceccherini I, Ottonello G, Cilio MR. Congenital central hypoventilation syndrome: genotype-phenotype correlation in parents of affected children carrying a PHOX2B expansion mutation.Clin Genet. 2010Sep;78(3):289-93. Epub 2010 Feb 11.
http://www.ncbi.nlm.nih.gov/pubmed/20236122


2009

Montirosso R, Morandi F, D’Aloisio C, Berna A, Provenzi L, Borgatti R. International Classification of Functioning, Disability and Health in children with congenital central hypoventilation syndrome.
Disability and Rehabilitation, 2009; 31(S1): S144–S152
http://www.ncbi.nlm.nih.gov/pubmed/19968527

Weese-Mayer DE, Rand CM, Berry-Kravis EM, Jennings LJ, Loghmanee DA, Patwari PP, Ceccherini I.Congenital central hypoventilation syndrome from past to future: model for translational and transitional autonomic medicine.Pediatr Pulmonol. 2009 Jun;44(6):521-35.
http://onlinelibrary.wiley.com/doi/10.1002/ppul.21045/pdf


2008

Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. Hum Mutat. 2008 Jan;29(1):206.
http://onlinelibrary.wiley.com/doi/10.1002/humu.9516/pdf

Parodi S, Baglietto MP, Pini Prato A, Caroli F, Garaventa A, Ceccherini I, Ottonello G.A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.Pediatr Pulmonol. 2008 Oct;43(10):1036-9.
http://www.ncbi.nlm.nih.gov/pubmed/18785257

Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation.Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48.
http://www.ncbi.nlm.nih.gov/pubmed/18579454


2007

Bachetti T, Bocca P, Borghini S, Matera I, Prigione I, Ravazzolo R, Ceccherini I. Geldanamycin promotes nuclear localisation and clearance of PHOX2B misfolded proteins containing polyalanine expansions. Int J Biochem Cell Biology, 39:327-339, 2007
http://www.sciencedirect.com/science/article/pii/S1357272506002457


2006

Bachetti T, A Robbiano, S Parodi, I Matera, E Merello, V Capra, MP Baglietto, A Rossi, I Ceccherini and G Ottonello. Brainstem Anomalies in two Patients Affected by Congenital Central Hypoventilation Syndrome. Am J Respir Crit Care Med 174:706-709, 2006
http://ajrccm.atsjournals.org/content/early/2006/06/08/rccm.200602-266CR.full.pdf
http://ajrccm.atsjournals.org/content/174/6/706.full.pdf+html

Berry-Kravis EM, Zhou L, Casey M, Rand BS, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 174:1139-1144, 2006.
http://ajrccm.atsjournals.org/content/174/10/1139.long
http://ajrccm.atsjournals.org/content/174/10/1139.full.pdf+html

Borghini S, Bachetti T, Fava M, Di Duca M, Cargnin F, Fornasari D., Ravazzolo R and Ceccherini I. The TLX2 homeobox gene is a transcriptional target of PHOX2B in neural-crest derived cells. Biochem J 395:355-361, 2006
http://www.biochemj.org/bj/395/0355/bj3950355.htm
http://www.biochemj.org/bj/395/0355/3950355.pdf

Emily S Todd, Seth M Weinberg, Elizabeth M Berry-Kravis, Jean M Silvestri, Anna S Kenny, Casey M Rand, Lili Zhou, Brion S Maher, Mary L Marazita and Debra E Weese-Mayer
Facial Phenotype in Children and Young Adults with PHOX2B–Determined Congenital Central Hypoventilation Syndrome: Quantitative Pattern of Dysmorphology
Pediatric Research (2006) 59, 39–45; doi:10.1203/01.pdr.0000191814.73340.1d
http://www.nature.com/pr/journal/v59/n1/pdf/pr200610a.pdf

Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B Mutation–confirmed Congenital Central Hypoventilation Syndrome. Presentation in Adulthood. Am J Resp Crit Care Med 174:923-927, 2006
http://ajrccm.atsjournals.org/content/174/8/923.full.pdf+html

Todd, E.S., Scott, N.M., Weese-Mayer, D.E., Weinberg, S.M., Berry-Kravis, E.M., Silvestri, J.M., Kenny, A.S., Hauptman, S.A., Zhou, L., Marazita, Characterization of dermatoglyphics in PHOX2B-confirmed congenital central hypoventilation syndrome. M.L. Pediatrics (2006)
http://pediatrics.aappublications.org/content/118/2/e408.long
http://pediatrics.aappublications.org/content/118/2/e408.full.pdf


Precedenti al 2006

Trochet D, O’Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gautier C, Lyonnet S and Amiel J. PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76:421-426, 2005.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196394/?tool=pubmed
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196394/pdf/AJHGv76p421.pdf

Bachetti T, Borghini S, Ravazzolo R and Ceccherini I. An in vitro approach to test the possibile role of candidate factors in the transcriptional regulation of the RET proto-oncogene. Gene Expr 12:137-149, 2005.
https://www.cognizantcommunication.com/cccSiteFiles/Gene/gene12abs3.html

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R and Ceccherini I. Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome. Hum Mol Genet 14:1815-1824, 2005.
http://hmg.oxfordjournals.org/content/14/13/1815.full.pdf+html

STUDIO DEI MECCANISMI PATOGENETICI IMPLICATI NELL’INSORGENZA DI DUE DISORDINI EREDITARI DELLO SVILUPPO DELLE CRESTE NEURALI: LA MALATTIA DI HIRSCHSPRUNG E LA SINDROME DA IPOVENTILAZIONE CENTRALE CONGENITA – Isabella Ceccherini , 2004

presentazione progetto

Vanderlaan M, Holbrook CR, Wang M, Tuell A and Gozal D. Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol 37:217-229, 2004.
http://www.normanet.ne.jp/~cchs/PDF/Epidemiologic%20Survey%20of%20196%20Patients.pdf

Matera I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, Ravazzolo R, Ottonello G and Ceccherini I. PHOX2B mutations and polyalanine expansions correlate with the severità of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome. J Med Genet 41:373-380, 2004.
http://jmg.bmj.com/content/41/5/373.full.pdf+html

Amiel J, Laudier B, Attiè-Bitach T, Trang H, De Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C and Lyonnet S. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459-461, 2003.
http://www.nature.com/ng/journal/v33/n4/full/ng1130.html#f2
http://www.nature.com/ng/journal/v33/n4/pdf/ng1130.pdf

Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME and Marazita ML. Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in Phox2b. Am J Med Genet 123:267-278, 2003.
http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.20527/abstract

Brunet JF, Pattyn A. Phox2 genes from patterning to connectivity. Curr Opin Genet Dev 12:435-440, 2002.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182065/
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182065/pdf/AJHGv75p727.pdf

Matera I, Bachetti T, Cinti R, Lerone M, Gagliardi L, Morandi F, Motta M, Mosca F, Ottonello G, Piumelli R, Schober JG, Ravazzolo R, Ceccherini I. Mutational analysis of the RNX gene in congenital central hypoventilation syndrome.Am J Med Genet. 2002 Nov 22;113(2):178-82.
http://www.ncbi.nlm.nih.gov/pubmed/12407709

Faure, C., Viarme, F., Cargill, G., Navarro, J., Gaultier, C., Trang . Abnormal esophageal motility in children with congenital central hypoventilation syndrome. H. Gastroenterology Volume 122, Issue 5 , Pages 1258-1263, May 2002
http://www.christophefaure.org/Files/esomotility_cchs.pdf
http://www.gastrojournal.org/article/S0016-5085%2802%2941540-5/abstract?referrer=http://www.ncbi.nlm.nih.gov/pubmed/11984512

Flora A, Lucchetti H, Benfante R, Goridis C, Clementi F and Fornasari D. Sp proteins and Phox2b regulate the expression of the human Phox2a gene. J Neurosci 21:7037-7045, 2001.
http://www.jneurosci.org/content/21/18/7037.full.pdf

Weese-Mayer DE, Shannon CD, Keens GT and Silvestri JM. Idiophatic congenital hypoventilation syndrome diagnosis and management. Am J Respir Crit Care Med 160:368-373, 1999.
http://ajrccm.atsjournals.org/content/160/1/368.full.pdf+html