Bachetti T - Search Results

1

The OSMR Gene Is Involved in Hirschsprung Associated Enterocolitis Susceptibility through an Altered Downstream Signaling.

Bachetti T, Rosamilia F, Bartolucci M, Santamaria G, Mosconi M, Sartori S, De Filippo MR, Di Duca M, Obino V, Avanzini S, Mavilio D, Candiani S, Petretto A, Pini Prato A, Ceccherini I, Lantieri F. Bachetti T, et al. Int J Mol Sci. 2021 Apr 7;22(8):3831. doi: 10.3390/ijms22083831. Int J Mol Sci. 2021. PMID: 33917126 Free PMC article.

2

OSM/OSMR and Interleukin 6 Family Cytokines in Physiological and Pathological Condition.

Lantieri F, Bachetti T. Lantieri F, et al. Among authors: bachetti t. Int J Mol Sci. 2022 Sep 21;23(19):11096. doi: 10.3390/ijms231911096. Int J Mol Sci. 2022. PMID: 36232392 Free PMC article.

3

A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expression.

Griseri P, Bachetti T, Puppo F, Lantieri F, Ravazzolo R, Devoto M, Ceccherini I. Griseri P, et al. Among authors: bachetti t. Hum Mutat. 2005 Feb;25(2):189-95. doi: 10.1002/humu.20135. Hum Mutat. 2005. PMID: 15643606

4

A common variant located in the 3'UTR of the RET gene is associated with protection from Hirschsprung disease.

Griseri P, Lantieri F, Puppo F, Bachetti T, Di Duca M, Ravazzolo R, Ceccherini I. Griseri P, et al. Among authors: bachetti t. Hum Mutat. 2007 Feb;28(2):168-76. doi: 10.1002/humu.20397. Hum Mutat. 2007. PMID: 16986122

5

Tumor necrosis factor receptor-associated periodic syndrome as a model linking autophagy and inflammation in protein aggregation diseases.

Bachetti T, Ceccherini I. Bachetti T, et al. J Mol Med (Berl). 2014 Jun;92(6):583-94. doi: 10.1007/s00109-014-1150-5. Epub 2014 Apr 6. J Mol Med (Berl). 2014. PMID: 24706103 Review.

6

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

Di Zanni E, Adamo A, Belligni E, Lerone M, Martucciello G, Mattioli G, Pini Prato A, Ravazzolo R, Silengo M, Bachetti T, Ceccherini I. Di Zanni E, et al. Among authors: bachetti t. Biochim Biophys Acta Mol Basis Dis. 2017 Jul;1863(7):1770-1777. doi: 10.1016/j.bbadis.2017.04.017. Epub 2017 Apr 20. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 28433712 Free article.

7

Causative and common PHOX2B variants define a broad phenotypic spectrum.

Bachetti T, Ceccherini I. Bachetti T, et al. Clin Genet. 2020 Jan;97(1):103-113. doi: 10.1111/cge.13633. Epub 2019 Aug 30. Clin Genet. 2020. PMID: 31444792 Review.

8

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

Bachetti T, Parodi S, Di Duca M, Santamaria G, Ravazzolo R, Ceccherini I. Bachetti T, et al. J Mol Med (Berl). 2011 May;89(5):505-13. doi: 10.1007/s00109-010-0718-y. Epub 2011 Feb 19. J Mol Med (Berl). 2011. PMID: 21336852

9

Distinct pathogenetic mechanisms for PHOX2B associated polyalanine expansions and frameshift mutations in congenital central hypoventilation syndrome.

Bachetti T, Matera I, Borghini S, Di Duca M, Ravazzolo R, Ceccherini I. Bachetti T, et al. Hum Mol Genet. 2005 Jul 1;14(13):1815-24. doi: 10.1093/hmg/ddi188. Epub 2005 May 11. Hum Mol Genet. 2005. PMID: 15888479

10

Transcriptional regulation of TLX2 and impaired intestinal innervation: possible role of the PHOX2A and PHOX2B genes.

Borghini S, Di Duca M, Santamaria G, Vargiolu M, Bachetti T, Cargnin F, Pini Prato A, De Giorgio R, Lerone M, Stanghellini V, Jasonni V, Fornasari D, Ravazzolo R, Ceccherini I. Borghini S, et al. Among authors: bachetti t. Eur J Hum Genet. 2007 Aug;15(8):848-55. doi: 10.1038/sj.ejhg.5201852. Epub 2007 May 16. Eur J Hum Genet. 2007. PMID: 17505528

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