Experts and Doctors on chromosome mapping in Rome, Latium, Italy


Locale: Rome, Latium, Italy
Topic: chromosome mapping

Top Publications

  1. Marchese E, Vignati A, Albanese A, Nucci C, Sabatino G, Tirpakova B, et al. Comparative evaluation of genome-wide gene expression profiles in ruptured and unruptured human intracranial aneurysms. J Biol Regul Homeost Agents. 2010;24:185-95 pubmed
  2. Giuliano G, Bartley G, Scolnik P. Regulation of carotenoid biosynthesis during tomato development. Plant Cell. 1993;5:379-87 pubmed
    ..We also report that PDS maps to chromosome 3, and thus it does not correspond to the GHOST locus, which maps to chromosome 11. ..
  3. Dicuonzo G, Angeletti S, Garcia Foncillas J, Brugarolas A, Okrouzhnov Y, Santini D, et al. Colorectal carcinomas and PTEN/MMAC1 gene mutations. Clin Cancer Res. 2001;7:4049-53 pubmed
  4. Urbani A, De Canio M, Palmieri F, Sechi S, Bini L, Castagnola M, et al. The mitochondrial Italian Human Proteome Project initiative (mt-HPP). Mol Biosyst. 2013;9:1984-92 pubmed publisher
  5. Bentivoglio A, Ialongo T, Contarino M, Valente E, Albanese A. Phenotypic characterization of DYT13 primary torsion dystonia. Mov Disord. 2004;19:200-6 pubmed
    ..Moreover, the individuals with generalised dystonia were not severely disabled and were able to lead independent lives. To date, this is the only family with DYT13-PTD. ..
  6. Bradbury A, Milstein C, Kozak C. Chromosomal localization of Cd1d genes in the mouse. Somat Cell Mol Genet. 1991;17:93-6 pubmed
    ..Analysis of the progeny of an intersubspecies backcross was used to position these genes near the gene for glucocerebrosidase, Gba. ..
  7. Genuardi M, Klutz M, Devriendt K, Caruso D, Stirpe M, Lohmann D. Multiple lipomas linked to an RB1 gene mutation in a large pedigree with low penetrance retinoblastoma. Eur J Hum Genet. 2001;9:690-4 pubmed
    ..Our data indicate that lipoma predisposition in hereditary retinoblastoma is not associated with specific RB1 gene mutations but is influenced by modifying factors linked to this gene. ..
  8. Zoraqi G, Paradisi S, Falbo V, Taruscio D. Genomic organization and assignment of VAMP2 to 17p12 by FISH. Cytogenet Cell Genet. 2000;89:199-203 pubmed
    ..778, 0.139, and 0.083, might be useful for future linkage studies. Finally, we localized three previously known markers, stSG12859, TIGR-A002F11, and WIAF-1699 (alias stSG4044), in the 3' untranslated region of the gene. ..
  9. Scaloni A, Jones W, Barra D, Pospischil M, Sassa S, Popowicz A, et al. Acylpeptide hydrolase: inhibitors and some active site residues of the human enzyme. J Biol Chem. 1992;267:3811-8 pubmed
    ..These findings suggest that acylpeptidase hydrolase is a member of a family of enzymes with extremely diverse functions. ..

More Information


  1. Rossi A, Gornung E. Cytogenetic analysis of three Italian populations of Coregonus lavaretus (Pisces, Salmoniformes) with chromosomal localization of major and minor ribosomal genes, and telomeric repeats. Hereditas. 2005;142:15-21 pubmed
    ..The results are compared with data available for populations from native geographic ranges...
  2. Iacovacci S, Gagnoux Palacios L, Zambruno G, Meneguzzi G, D Alessio M. Genomic organization of the human integrin beta4 gene. Mamm Genome. 1997;8:448-50 pubmed
  3. Salehi L, Mangino M, De Serio S, De Cicco D, Capon F, Semprini S, et al. Assignment of a locus for autosomal dominant idiopathic scoliosis (IS) to human chromosome 17p11. Hum Genet. 2002;111:401-4 pubmed
    ..We scored genes mapping in this interval and studied the heparan sulfotransferase genes as candidates on the basis of their biochemical role. No causative mutation was detected in the affected patients. ..
  4. Chiurazzi P, Schwartz C, Gecz J, Neri G. XLMR genes: update 2007. Eur J Hum Genet. 2008;16:422-34 pubmed publisher
    ..We briefly consider the molecular function of known XLMR proteins and discuss the possible strategies to identify the remaining XLMR genes. Final remarks are made on the natural history of XLMR conditions and on diagnostic issues...
  5. Piergentili R, Bonaccorsi S, Raffa G, Pisano C, Hackstein J, Mencarelli C. Autosomal control of the Y-chromosome kl-3 loop of Drosophila melanogaster. Chromosoma. 2004;113:188-96 pubmed
  6. Novelli A, Valente E, Bernardini L, Ceccarini C, Sinibaldi L, Caputo V, et al. Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family. Eur J Hum Genet. 2004;12:579-83 pubmed
  7. Mangino M, Salpietro D, Zuccarello D, Gangemi S, Rigoli L, Merlino M, et al. A gene for familial isolated chronic nail candidiasis maps to chromosome 11p12-q12.1. Eur J Hum Genet. 2003;11:433-6 pubmed
    ..3 (APECED), and 19q13 (ICAM-1). We then carried out a genome-wide scan and assigned the CMC locus to a 19 cM pericentromeric region on chromosome 11...
  8. Cenci G, Siriaco G, Raffa G, Kellum R, Gatti M. The Drosophila HOAP protein is required for telomere capping. Nat Cell Biol. 2003;5:82-4 pubmed
    ..Our analyses indicate that HOAP is specifically enriched at mitotic chromosome telomeres, and strongly suggest that HP1 and HOAP form a telomere-capping complex that does not contain ORC2. ..
  9. Baldi A, De Luca A, Morini M, Battista T, Felsani A, Baldi F, et al. The HtrA1 serine protease is down-regulated during human melanoma progression and represses growth of metastatic melanoma cells. Oncogene. 2002;21:6684-8 pubmed
    ..These results suggest that down-regulation of PRSS11 and HtrA1 expression may represent an indicator of melanoma progression. ..
  10. Petruzzella V, Tiranti V, Fernandez P, Ianna P, Carrozzo R, Zeviani M. Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain. Genomics. 1998;54:494-504 pubmed
    ..However, both sequence analysis and functional complementation assays on an index patient do not support an etiological role for any of these genes. ..
  11. Siriaco G, Cenci G, Haoudi A, Champion L, Zhou C, Gatti M, et al. Telomere elongation (Tel), a new mutation in Drosophila melanogaster that produces long telomeres. Genetics. 2002;160:235-45 pubmed
    ..Associations between metaphase chromosomes are resolved during anaphase, suggesting that they are mediated by either proteinaceous links or DNA hydrogen bonding, rather than covalent DNA-DNA bonds. ..
  12. Brancati F, Defazio G, Caputo V, Valente E, Pizzuti A, Livrea P, et al. Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. Mov Disord. 2002;17:392-7 pubmed
    ..These findings support genetic heterogeneity of PTD and indicate that a novel unassigned gene is responsible for focal dystonia in this family...
  13. Botta A, Tandoi C, Fini G, Calabrese G, Dallapiccola B, Novelli G. Cloning and characterization of the gene encoding human NPL4, a protein interacting with the ubiquitin fusion-degradation protein (UFD1L). Gene. 2001;275:39-46 pubmed
  14. Napolitano M, Zingoni A, Bernardini G, Spinetti G, Nista A, Storlazzi C, et al. Molecular cloning of TER1, a chemokine receptor-like gene expressed by lymphoid tissues. J Immunol. 1996;157:2759-63 pubmed
    ..3 and in the T cell line MOLT-4. The restricted TER1 expression in cells and tissues of the lymphoid lineage suggests that this receptor may play a role in regulating immune functions. ..
  15. Guida S, Trettel F, Pagnutti S, Mantuano E, Tottene A, Veneziano L, et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet. 2001;68:759-64 pubmed
    ..These results indicate that a complete loss of P/Q channel function is the mechanism underlying EA2, whether due to truncating or to missense mutations. ..
  16. Villa L, Pezzella C, Tosini F, Visca P, Petrucca A, Carattoli A. Multiple-antibiotic resistance mediated by structurally related IncL/M plasmids carrying an extended-spectrum beta-lactamase gene and a class 1 integron. Antimicrob Agents Chemother. 2000;44:2911-4 pubmed
    ..3-kb bla(SHV-5)-In-t3 region of pSEM highlighted striking similarities with IncL/M plasmids isolated from nosocomial gram-negative pathogens, conferring resistance to expanded-spectrum cephalosporins and aminoglycosides...
  17. Mancini E, Baldini F, Tammaro F, Calzetta M, Serrao A, George P, et al. Molecular characterization and evolution of a gene family encoding male-specific reproductive proteins in the African malaria vector Anopheles gambiae. BMC Evol Biol. 2011;11:292 pubmed publisher
    ..This knowledge will allow a better evaluation of the relative importance of genes involved in the reproductive isolation and fertility of A. gambiae species and could help the interpretation of the observed evolutionary patterns. ..
  18. Giansanti M, Farkas R, Bonaccorsi S, Lindsley D, Wakimoto B, Fuller M, et al. Genetic dissection of meiotic cytokinesis in Drosophila males. Mol Biol Cell. 2004;15:2509-22 pubmed
  19. Marazziti D, Golini E, Gallo A, Lombardi M, Matteoni R, Tocchini Valentini G. Cloning of GPR37, a gene located on chromosome 7 encoding a putative G-protein-coupled peptide receptor, from a human frontal brain EST library. Genomics. 1997;45:68-77 pubmed
  20. Traboni C, Tosini F, Covone A, Romeo G, Rocchi M. The gene coding for proteins HC and HI-30 of inter-alpha-trypsin inhibitor maps to 9q22.3----q33. Cytogenet Cell Genet. 1989;50:46-8 pubmed
    ..Using a genomic DNA probe and a panel of somatic cell hybrids we have mapped the gene coding for the proteins to chromosome 9. In situ hybridization experiments refined the assignment to the region 9q22.3----q33. ..
  21. Mantuano E, Trettel F, Olsen A, Lennon G, Frontali M, Jodice C. Localization and genomic structure of human deoxyhypusine synthase gene on chromosome 19p13.2-distal 19p13.1. Gene. 1998;215:153-7 pubmed
    ..6kb. From observation of the genomic structure, it seems likely that the internally deleted forms of mature RNA are the result of alternative splicing, rather than of artifacts. ..
  22. Buanne P, Incerti B, Guardavaccaro D, Avvantaggiato V, Simeone A, Tirone F. Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes. Genomics. 1998;51:233-42 pubmed
  23. Mazzoni C, Iacchini S, Serafini A, Falcone C. Characterization of a Kluyveromyces lactis mutant with altered regulation of mitochondrial alcohol dehydrogenases. FEMS Yeast Res. 2006;6:421-7 pubmed
    ..Strains carrying the aar900 mutation could represent useful tools to unravel the peculiar regulation of KlADH3 and KlADH4 by ethanol...
  24. Zingoni A, Rocchi M, Storlazzi C, Bernardini G, Santoni A, Napolitano M. Isolation and chromosomal localization of GPR31, a human gene encoding a putative G protein-coupled receptor. Genomics. 1997;42:519-23 pubmed
    ..The GPR31 mRNA is expressed at low levels by several human cell lines of different cellular origins. The phylogenetic analysis suggests that the GPR31 receptor may represent a member of a new GPCR subfamily. ..
  25. Perez M, Rompato G, Corbi N, De Gregorio L, Dragani T, Passananti C. Zfp60, a mouse zinc finger gene expressed transiently during in vitro muscle differentiation. FEBS Lett. 1996;387:117-21 pubmed
    ..We show that the bacterial produced Zfp60 protein binds DNA only in presence of zinc ions. Zfp60 locus has been mapped in chromosome 7, where other Zfp loci are localised. ..
  26. Cabib S, Oliverio A, Ventura R, Lucchese F, Puglisi Allegra S. Brain dopamine receptor plasticity: testing a diathesis-stress hypothesis in an animal model. Psychopharmacology (Berl). 1997;132:153-60 pubmed
    ..Finally, the results of this analysis suggest the involvement of regulatory factors related to stress response and neural or synaptic plasticity in the control of brain DA receptor plasticity. ..
  27. Orlacchio A, Kawarai T, Gaudiello F, St George Hyslop P, Floris R, Bernardi G. New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1. Ann Neurol. 2005;58:423-9 pubmed
    ..3cM between markers D1S2889 and D1S248. Sequencing of one candidate gene in the region (sorting nexin 7, SNX7), involved in several stages of intracellular trafficking and protein transport, showed no disease-causing mutations. ..
  28. Verde I, Bassil N, Scalabrin S, Gilmore B, Lawley C, Gasic K, et al. Development and evaluation of a 9K SNP array for peach by internationally coordinated SNP detection and validation in breeding germplasm. PLoS ONE. 2012;7:e35668 pubmed publisher
    ..The IPSC peach SNP array v1 is commercially available and we expect that it will be used worldwide for genetic studies in peach and related stone fruit and nut species. ..