Výsledky vyhledávání - "Giovanna Patrone"

Rescue of human RET gene expression by sodium butyrate: a novel powerful tool for molecular studies in Hirschsprung disease

Autor: F Puppo, Isabella Ceccherini, Roberto Ravazzolo, Giovanni Romeo, Paola Griseri, Giovanna Patrone

Publikováno v: Gut. 52:1154-1158

Background: The RET gene encodes a tyrosine kinase receptor involved in different human neurocristopathies, such as specific neuroendocrine tumours and Hirschsprung disease (HSCR). Gene expression is developmentally regulated and the RET transcript i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f055b1609e7b7da3256de6328b89088
https://doi.org/10.1136/gut.52.8.1154

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A rare haplotype of the RET proto-oncogene is a risk-modifying allele in Hirschsprung disease

Autor: Barbara Pesce, Jan Osinga, Giovanna Patrone, Robert M.W. Hofstra, Francesca Puppo, Roberto Ravazzolo, Marcella Devoto, Paola Griseri, Monica Sancandi, Isabella Ceccherini, Giovanni Romeo

Publikováno v: American Journal of Human Genetics, 71(4), 969-974. CELL PRESS
Scopus-Elsevier

Hirschsprung disease (HSCR) is a common genetic disorder characterized by intestinal obstruction secondary to enteric aganglionosis. HSCR demonstrates a complex pattern of inheritance, with the RET proto-oncogene acting as a major gene and with sever

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d397a4459136640b490080fabc98f10f
https://hdl.handle.net/11370/9c99e261-2d46-4e39-b06f-be6c3e57d4c8

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Cell-line specific transcription rates of the RET gene and functional domains in its minimal promoter

Autor: Roberto Ravazzolo, Paola Griseri, Francesca Puppo, Giovanni Romeo, Isabella Ceccherini, Roberto Cusano, Giovanna Patrone, Aldamaria Puliti, Monica Scaranari

Publikováno v: Gene Function & Disease. 1:145-153

To gain insight into the RET gene transcriptional regulation we analysed its mRNA expression, transcription rate, and promoter activity in different cell lines, showing that RET transcription is highly cell-line specific. By using a panel of promoter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0477fcee28601489b4b2722f355270eb
https://doi.org/10.1002/1438-826x(200010)1:3/4<145::aid-gnfd145>3.0.co

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A single-nucleotide polymorphic variant of the RET proto-oncogene is underrepresented in sporadic Hirschsprung disease

Autor: Marcella Devoto, Giovanna Patrone, Robert M.W. Hofstra, Roberto Ravazzolo, Renata Bocciardi, Isabella Ceccherini, Monica Sancandi, Paola Griseri, Giovanni Romeo

Publikováno v: European Journal of Human Genetics, 8(9), 721-724. Nature Publishing Group

Hirschsprung disease (HSCR) is an inherited disorder characterised by absence of intrinsic ganglion cells in the distal gastrointestinal tract. Different susceptibility genes, involved in either the Ret-tyrosine kinase or the endothelin signalling pa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e04decb4c40f04db6cfe9e2df5ca6c76
https://research.rug.nl/en/publications/06a9d83b-e873-4528-8369-590d198383c5

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Comparative genomic sequence analysis coupled to chromatin immunoprecipitation: a screening procedure applied to search for regulatory elements at the RET locus

Autor: Giovanna Patrone, Isabella Ceccherini, Sergio Crovella, Paola Griseri, Doroti Pirulli, Roberto Ravazzolo, Francesca Puppo, Marco Musso, Tiziana Bachetti

Publikováno v: Physiological genomics. 23(3)

RET gene expression is characterized by high tissue and stage specificity during the development of neural crest derivatives and in the pathogenesis of inherited cancer syndromes and Hirschsprung disease. Identifying all elements contributing to its

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf15cc08b1408ddc006de67b31c3711a
https://pubmed.ncbi.nlm.nih.gov/16144862

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Cell-line specific chromatin acetylation at the Sox10-Pax3 enhancer site modulates the RET proto-oncogene expression

Autor: Giovanna Patrone, Francesca Schena, Paola Griseri, Roberto Ravazzolo, Francesca Puppo, Pier Giuseppe Pelicci, Isabella Ceccherini, Giovanni Romeo, Mirco Fanelli

Publikováno v: FEBS letters. 523(1-3)

The RET gene is expressed with high tissue and stage specificity during development. Understanding its transcriptional regulation might provide new clues to clarify developmental mechanisms. Here we show that the histone deacetylase inhibitor sodium

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c85a2d620a6ce872ce1bda420a122c3
https://pubmed.ncbi.nlm.nih.gov/12123817

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A 5'-CG-3'-rich region in the promoter of the transcriptionally frequently silenced RET protooncogene lacks methylated cytidine residues

Autor: Giovanni Romeo, Birgit Schmitz, Marc Munnes, Giovanna Patrone, Walter Doerfler

Publikováno v: Oncogene. 17(20)

In a large proportion of familial and sporadic cases of Hirschsprung disease (HSCR) mutations in the RET (rearranged during transfection) protooncogene have been described. We have investigated the structure of the RET gene promoter and have analysed

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21aec12cfcd2c174222928391f7dac37
https://pubmed.ncbi.nlm.nih.gov/9840920

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Sequence and characterisation of the RET proto-oncogene 5' flanking region: analysis of retinoic acid responsiveness at the transcriptional level

Autor: Giovanna Patrone, Roberto Ravazzolo, Giovanni Romeo, Aldamaria Puliti, Renata Bocciardi

Publikováno v: FEBS letters. 419(1)

The RET proto-oncogene encodes a receptor tyrosine kinase expressed during neural crest development. RET expression is enhanced in vitro by several differentiating agents, including retinoic acid (RA), which up-regulates RET expression in neuroblasto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bb75b14be6770ef6f2fd3b79da89af7
https://pubmed.ncbi.nlm.nih.gov/9426223

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A repeated element in the human lamin B2 gene covers most of an intron and reiterates the exon/intron junction

Autor: Adrian Suarez-Covarrubias, Silvano Riva, Giovanna Patrone, Giuseppe Biamonti, Elisa de Stanchina, Giovanni Perini

Publikováno v: Gene. 196(1-2)

Nuclear lamins are intermediate filament-type proteins forming a fibrillar meshwork that underlies the inner nuclear membrane. We have previously reported the identification of the human lamin B2 gene that maps to the subtelomeric band p13.3 of chrom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58b81c894766fc167f81820380c961fa
https://pubmed.ncbi.nlm.nih.gov/9322766

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