Franco B - Search Results

1

Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy.

Morleo M, Brillante S, Formisano U, Ferrante L, Carbone F, Iaconis D, Palma A, Buonomo V, Maione AS, Grumati P, Settembre C, Franco B. Morleo M, et al. Among authors: franco b. EMBO J. 2021 Feb 15;40(4):e105120. doi: 10.15252/embj.2020105120. Epub 2020 Dec 28. EMBO J. 2021. PMID: 33368531 Free PMC article.

2

Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

Morleo M, Pramparo T, Perone L, Gregato G, Le Caignec C, Mueller RF, Ogata T, Raas-Rothschild A, de Blois MC, Wilson LC, Zaidman G, Zuffardi O, Ballabio A, Franco B. Morleo M, et al. Among authors: franco b. Am J Med Genet A. 2005 Aug 30;137(2):190-8. doi: 10.1002/ajmg.a.30864. Am J Med Genet A. 2005. PMID: 16059943

3

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

Baroncini A, Castelluccio P, Morleo M, Soli F, Franco B. Baroncini A, et al. Among authors: franco b. Am J Med Genet A. 2007 Jan 1;143A(1):51-7. doi: 10.1002/ajmg.a.31557. Am J Med Genet A. 2007. PMID: 17152064

4

Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders.

Morleo M, Franco B. Morleo M, et al. Among authors: franco b. J Med Genet. 2008 Jul;45(7):401-8. doi: 10.1136/jmg.2008.058305. Epub 2008 May 7. J Med Genet. 2008. PMID: 18463129 Review.

5

Kidney-specific inactivation of Ofd1 leads to renal cystic disease associated with upregulation of the mTOR pathway.

Zullo A, Iaconis D, Barra A, Cantone A, Messaddeq N, Capasso G, Dollé P, Igarashi P, Franco B. Zullo A, et al. Among authors: franco b. Hum Mol Genet. 2010 Jul 15;19(14):2792-803. doi: 10.1093/hmg/ddq180. Epub 2010 May 5. Hum Mol Genet. 2010. PMID: 20444807 Free PMC article.

6

Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome.

Morleo M, Iaconis D, Chitayat D, Peluso I, Marzella R, Renieri A, Mari F, Franco B. Morleo M, et al. Among authors: franco b. Mol Med Rep. 2008 Jan-Feb;1(1):33-9. Mol Med Rep. 2008. PMID: 21479374

7

Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.

Indrieri A, van Rahden VA, Tiranti V, Morleo M, Iaconis D, Tammaro R, D'Amato I, Conte I, Maystadt I, Demuth S, Zvulunov A, Kutsche K, Zeviani M, Franco B. Indrieri A, et al. Among authors: franco b. Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016. Am J Hum Genet. 2012. PMID: 23122588 Free PMC article.

8

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators.

Liu YP, Tsai IC, Morleo M, Oh EC, Leitch CC, Massa F, Lee BH, Parker DS, Finley D, Zaghloul NA, Franco B, Katsanis N. Liu YP, et al. Among authors: franco b. J Clin Invest. 2014 May;124(5):2059-70. doi: 10.1172/JCI71898. Epub 2014 Apr 1. J Clin Invest. 2014. PMID: 24691443 Free PMC article.

9

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

Amato R, Morleo M, Giaquinto L, di Bernardo D, Franco B. Amato R, et al. Among authors: franco b. BMC Genomics. 2014 Aug 7;15(1):658. doi: 10.1186/1471-2164-15-658. BMC Genomics. 2014. PMID: 25102769 Free PMC article.

10

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.

Chevrier V, Bruel AL, Van Dam TJ, Franco B, Lo Scalzo M, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg JP, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière JB, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C. Chevrier V, et al. Among authors: franco b. Hum Mol Genet. 2016 Feb 1;25(3):497-513. doi: 10.1093/hmg/ddv488. Epub 2015 Dec 7. Hum Mol Genet. 2016. PMID: 26643951

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