2023
Christina E Finch , Roberta M Leu , Kelli-Lee Harford , Adrianna L Westbrook , Ajay S Kasi
Sleep disturbances in parental caregivers and patients with congenital central hypoventilation syndrome
https://pubmed.ncbi.nlm.nih.gov/36541215/
Benjamin Dudoignon , Isabelle Denjoy , Maxime Patout , Boris Matrot , Jorge Gallego , Plamen Bokov , Christophe Delclaux
Heart rate variability in congenital central hypoventilation syndrome: relationships with hypertension and sinus pauses
https://pubmed.ncbi.nlm.nih.gov/35882978/
2022
Ana Lucia Cuadros Gamboa , Roberta Benfante , Monica Nizzardo , Tiziana Bachetti , Paride Pelucchi , Valentina Melzi , Cinzia Arzilli , Marta Peruzzi , Rolland A Reinbold , Silvia Cardani , Amelia Morrone , Renzo Guerrini , Ileana Zucchi , Stefania Corti , Isabella Ceccherini , Raffaele Piumelli , Niccolò Nassi , Simona Di Lascio , Diego Fornasari
Generation of two hiPSC lines (UMILi027-A and UMILi028-A) from early and late-onset Congenital Central hypoventilation Syndrome (CCHS) patients carrying a polyalanine expansion mutation in the PHOX2B gene
https://pubmed.ncbi.nlm.nih.gov/35421844/
Elisabetta Bigagli , Maura Lodovici , Marzia Vasarri , Marta Peruzzi , Niccolò Nassi , Donatella Degl’Innocenti
Significance of Serum Oxidative and Antioxidative Status in Congenital Central Hypoventilation Syndrome (CCHS) Patients
https://pubmed.ncbi.nlm.nih.gov/36009216/
Shreya Mathur , Eric Laifman , Thomas G Keens , Sheila Kun , Sally L Davidson Ward , Iris A Perez
Children with Congenital Central Hypoventilation Syndrome Do Not Wake up to Ventilator Alarms
https://pubmed.ncbi.nlm.nih.gov/34506013/
Caroline B Ferreira , Talita M Silva , Phelipe E Silva , Claudio L Castro , Catherine Czeisler , José J Otero , Ana C Takakura , Thiago S Moreira
Phox2b mutation mediated by Atoh1 expression impaired respiratory rhythm and ventilatory responses to hypoxia and hypercapnia
https://pubmed.ncbi.nlm.nih.gov/36394266/
Ajay S Kasi , Hong Li , Kelli-Lee Harford , Humphrey V Lam , Chad Mao , April M Landry , Sarah G Mitchell , Matthew S Clifton , Roberta M Leu
Congenital Central Hypoventilation Syndrome: Optimizing Care with a Multidisciplinary Approach
https://pubmed.ncbi.nlm.nih.gov/35360554/
2021
Simona Di Lascio , Roberta Benfante , Silvia Cardani , Diego Fornasari
Research Advances on Therapeutic Approaches to Congenital Central Hypoventilation Syndrome (CCHS)
https://pubmed.ncbi.nlm.nih.gov/33510615/
Amy Zhou , Casey M Rand , Sara M Hockney , Grace Niewijk , Patrick Reineke , Virginia Speare , Elizabeth M Berry-Kravis , Lili Zhou , Lawrence J Jennings Min Yu , Isabella Ceccherini , Tiziana Bachetti , Melanie Pennock , Kai Lee Yap , Debra E Weese-Mayer
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS)
https://pubmed.ncbi.nlm.nih.gov/33958749/
Federica Porcaro , Maria Giovanna Paglietti , Claudio Cherchi , Alessandra Schiavino , Maria Beatrice Chiarini Testa , Renato Cutrera
How the Management of Children With Congenital Central Hypoventilation Syndrome Has Changed Over Time: Two Decades of Experience From an Italian Center
https://pubmed.ncbi.nlm.nih.gov/33855005/
Keshawadhana Balakrishnan , Iris A Perez , Thomas G Keens , Anita Sicolo , Jaya Punati , Tanaz Danialifar
Hirschsprung disease and other gastrointestinal motility disorders in patients with CCHS
https://pubmed.ncbi.nlm.nih.gov/33113016/
2020
Ha Trang , Martin Samuels , Isabella Ceccherini , Matthias Frerick , Maria Angeles Garcia-Teresa , Jochen Peters , Johannes Schoeber , Marek Migdal , Agneta Markstrom , Giancarlo Ottonello , Raffaele Piumelli , Maria Helena Estevao , Irena Senecic-Cala , Barbara Gnidovec-Strazisar , Andreas Pfleger , Raquel Porto-Abal , Miriam Katz-Salamon
Guidelines for diagnosis and management of congenital central hypoventilation syndrome
https://pubmed.ncbi.nlm.nih.gov/32958024/
Abdulaziz Binmanee , Abdulrahman Alfadhel , Naif Alzamil , Sara ALBanyan , Mishal Alammar
Congenital Central Hypoventilation Syndrome Presenting with Seizures
https://pubmed.ncbi.nlm.nih.gov/31976189/
2019
Luciano Pirone , Laura Caldinelli , Simona Di Lascio , Rocco Di Girolamo , Sonia Di Gaetano , Diego Fornasari , Loredano Pollegioni , Roberta Benfante , Emilia Pedone
Molecular insights into the role of the polyalanine region in mediating PHOX2B aggregation
https://pubmed.ncbi.nlm.nih.gov/30955232/
2018
Simona Di Lascio , Roberta Benfante , Eleonora Di Zanni , Silvia Cardani , Annalisa Adamo , Diego Fornasari , Isabella Ceccherini , Tiziana Bachetti
Structural and functional differences in PHOX2B frameshift mutations underlie isolated or syndromic congenital central hypoventilation syndrome
https://pubmed.ncbi.nlm.nih.gov/29098737/
Yassmin Mansela Musthaffa , Vikas Goyal , Margaret-Anne Harris , Nitin Kapur , Juliane Leger , Mark Harris
Dysregulated glucose homeostasis in congenital central hypoventilation syndrome
https://pubmed.ncbi.nlm.nih.gov/30447143/
Silvia Cardani , Simona Di Lascio , Debora Belperio , Erika Di Biase , Isabella Ceccherini , Roberta Benfante , Diego Fornasari
Desogestrel down-regulates PHOX2B and its target genes in progesterone responsive neuroblastoma cells
https://pubmed.ncbi.nlm.nih.gov/30036539/
2016
Rehan Saiyed , Casey M Rand , Michael S Carroll , Cynthia M Koliboski , Tracey M Stewart , Cindy D Brogadir , Anna S Kenny , Emily K E Petersen , David W Carley , Debra E Weese-Mayer
Congenital central hypoventilation syndrome (CCHS): Circadian temperature variation
https://pubmed.ncbi.nlm.nih.gov/26086998/
Emily Hopkins , James Stark , Ricardo A Mosquera
Central Congenital Hypoventilation Syndrome associated with hypoglycemia and seizure
https://pubmed.ncbi.nlm.nih.gov/28070480/
2014
Emilia Biffi , Caterina Piazza, Matteo Cavalleri, Peter Taddeo, Alessandro Carcano, Francesco Morandi, Gianluigi Reni
An assistive device for congenital central hypoventilation syndrome outpatients during sleep
https://pubmed.ncbi.nlm.nih.gov/25069973/
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
Congenital central hypoventilation syndrome and hypoglycaemia
https://pubmed.ncbi.nlm.nih.gov/22103583/
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
Christian Straus , Thomas Similowski
Congenital central hypoventilation syndrome and desogestrel: a call for caution: addendum to “C. Straus, H. Trang, M.H. Becquemin, P. Touraine, T. Similowski, Chemosensitivity recovery in Ondine’s curse syndrome under treatment with desogestrel” [Respir. Physiol. Neurobiol. 171 (2010) 171-174]
https://pubmed.ncbi.nlm.nih.gov/21801857/
Brian D Duty , Susan E Wozniak, Nathan R Selden
Vagal nerve stimulator placement for medically refractory seizures in a child treated with phrenic nerve pacing for congenital central hypoventilation syndrome
https://pubmed.ncbi.nlm.nih.gov/21456915/
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.
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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.
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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.
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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.
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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.
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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.
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Brunet JF, Pattyn A. Phox2 genes from patterning to connectivity. Curr Opin Genet Dev 12:435-440, 2002.
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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.
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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
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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.
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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.
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