Experts and Doctors on chromosome mapping in Italy


Locale: Italy
Topic: chromosome mapping

Top Publications

  1. Furia M, Digilio F, Artiaco D, D Avino P, Cavaliere D, Polito L. Molecular organization of the Drosophila melanogaster Pig-1 gene. Chromosoma. 1991;101:49-54 pubmed
    ..We also report that the level of Pig-1 transcript is nearly fourfold reduced in a variant strain carrying a deletion within the Pig-1 upstream sequence, thus identifying a regulatory element required for high level gene expression. ..
  2. Donti E, Lanfrancone L, Huebner K, Pascucci A, Venti G, Pengue G, et al. Localization of the human HF.10 finger gene on a chromosome region (3p21-22) frequently deleted in human cancers. Hum Genet. 1990;84:391-5 pubmed
    ..By in situ hybridization experiments and analysis of interspecific somatic cell hybrids we mapped the HF.10 gene to 3p21-22, a chromosome region frequently involved in karyotypic rearrangements associated with lung and renal cancer. ..
  3. Cusi D, Barlassina C, Azzani T, Casari G, Citterio L, Devoto M, et al. Polymorphisms of alpha-adducin and salt sensitivity in patients with essential hypertension. Lancet. 1997;349:1353-7 pubmed
    ..We suggest the alpha-adducin polymorphism may identify hypertensive patients who will benefit from diuretic treatment or manoeuvres to reduce total body sodium. ..
  4. Puca A, Zollo M, Repetto M, Andolfi G, Guffanti A, Simon G, et al. Identification by shotgun sequencing, genomic organization, and functional analysis of a fourth arylsulfatase gene (ARSF) from the Xp22.3 region. Genomics. 1997;42:192-9 pubmed
  5. Puliti A, Cinti R, Seri M, Ceccherini I, Romeo G. Assignment of mouse Gfra1, the homologue of a new human HSCR candidate gene, to the telomeric region of mouse chromosome 19. Cytogenet Cell Genet. 1997;78:291-4 pubmed
  6. Puca A, Nigro V, Piluso G, Belsito A, Sampaolo S, Quaderi N, et al. Identification and characterization of a novel member of the dystrobrevin gene family. FEBS Lett. 1998;425:7-13 pubmed
    ..Immunostaining studies indicate that DTN-B and DTN expression is absent in affected muscle fibers from DMD patients and carriers. ..
  7. Purrello M, Di Pietro C, Viola A, Rapisarda A, Stevens S, Guermah M, et al. Genomics and transcription analysis of human TFIID. Oncogene. 1998;16:1633-8 pubmed
    ..These data will be useful for analysing variations of TAF(II) mRNA phenotype during cell proliferation, differentiation and development, both normal and pathological. ..
  8. Fontanesi L, Beretti F, Martelli P, Colombo M, Dall Olio S, Occidente M, et al. A first comparative map of copy number variations in the sheep genome. Genomics. 2011;97:158-65 pubmed publisher
    ..0001), suggesting that several chromosome regions might contain recurrent interspecies CNVRs. Many sheep CNVRs include genes with important biological functions. Further studies are needed to evaluate their functional relevance. ..
  9. Purrello M, Di Pietro C, Rapisarda A, Motta S, Pavone L, Grzeschik K, et al. Localization of the human genes encoding the two subunits of general transcription factor TFIIE. Genomics. 1994;23:253-5 pubmed
    ..A TaqI RFLP (heterozygosity index of 0.07) was detected at the locus for the 56-kDa subunit. ..

More Information

Publications229 found, 100 shown here

  1. Furia M, D Avino P, Crispi S, Artiaco D, Polito L. Dense cluster of genes is located at the ecdysone-regulated 3C puff of Drosophila melanogaster. J Mol Biol. 1993;231:531-8 pubmed
    ..Interestingly to note, the entire cluster shows a peculiar genomic location, extending across two introns of the memory gene dunce, a large gene of Drosophila whose organization has proved to be remarkably complex. ..
  2. Pizzuti A, Novelli G, Mari A, Ratti A, Colosimo A, Amati F, et al. Human homologue sequences to the Drosophila dishevelled segment-polarity gene are deleted in the DiGeorge syndrome. Am J Hum Genet. 1996;58:722-9 pubmed
    ..Since DGS may be due to perturbation of differentiation mechanisms at decisive embryological stages, a Dsh-like gene in the small-region overlap (SRO) might be a candidate for the pathogenesis of this disorder. ..
  3. Polimeni M, Giorgi S, De Gregorio L, Dragani T, Molinaro M, Cossu G, et al. Differentiation dependent expression in muscle cells of ZT3, a novel zinc finger factor differentially expressed in embryonic and adult tissues. Mech Dev. 1996;54:107-17 pubmed
    ..Its expression in other tissues is compatible with the suggestion that members of this class of DNA-binding factors play different roles during post-implantation development and in the adult life. ..
  4. Milano A, De Rossi E, Gusberti L, Heym B, Marone P, Riccardi G. The katE gene, which encodes the catalase HPII of Mycobacterium avium. Mol Microbiol. 1996;19:113-23 pubmed
    ..avium to the drug. The availability of the gene probe, encoding the second mycobacterial catalase HPII, should open the way for the development of new drugs and diagnostic tests to combat drug-resistant pathogen strains...
  5. Cantoni C, Bottino C, Augugliaro R, Morelli L, Marcenaro E, Castriconi R, et al. Molecular and functional characterization of IRp60, a member of the immunoglobulin superfamily that functions as an inhibitory receptor in human NK cells. Eur J Immunol. 1999;29:3148-59 pubmed
    ..Since IRp60 is also expressed by other cell types, including T cell subsets, monocytes and granulocytes, it may play a more general role in the negative regulation of different leukocyte populations. ..
  6. Rampazzo A, Pivotto F, Occhi G, Tiso N, Bortoluzzi S, Rowen L, et al. Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region. Biochem Biophys Res Commun. 2000;278:766-74 pubmed
    ..The predicted protein shows PEST sequences, suggesting its rapid degradation. The novel intronless gene, provisionally named C14orf4 and probably encoding a nuclear protein, was excluded from being the ARVD1 gene. ..
  7. Doliana R, Bot S, Mungiguerra G, Canton A, Cilli S, Colombatti A. Isolation and characterization of EMILIN-2, a new component of the growing EMILINs family and a member of the EMI domain-containing superfamily. J Biol Chem. 2001;276:12003-11 pubmed
  8. La Starza R, Testoni N, Lafage Pochitaloff M, Ruggeri D, Ottaviani E, Perla G, et al. Complex variant Philadelphia translocations involving the short arm of chromosome 6 in chronic myeloid leukemia. Haematologica. 2002;87:143-7 pubmed
    ..Classical t(9;22), masked by additional chromosomal rearrangements, can resemble complex variant Ph translocations, and can be detected only using appropriate FISH probes. ..
  9. Falvella F, Pascale R, Gariboldi M, Manenti G, De Miglio M, Simile M, et al. Stearoyl-CoA desaturase 1 (Scd1) gene overexpression is associated with genetic predisposition to hepatocarcinogenesis in mice and rats. Carcinogenesis. 2002;23:1933-6 pubmed
    ..These results suggest that the Scd1 gene represents a downstream target of hepatocellular tumor-modifier loci in two rodent species. ..
  10. Milanesi L, Petrillo M, Sepe L, Boccia A, D Agostino N, Passamano M, et al. Systematic analysis of human kinase genes: a large number of genes and alternative splicing events result in functional and structural diversity. BMC Bioinformatics. 2005;6 Suppl 4:S20 pubmed
    ..Kinases may be searched by domain combinations and the relative genes may be viewed in a graphic browser at various level of magnification up to gene organization on the full chromosome set. ..
  11. Lazzari B, Caprera A, Cosentino C, Stella A, Milanesi L, Viotti A. ESTuber db: an online database for Tuber borchii EST sequences. BMC Bioinformatics. 2007;8 Suppl 1:S13 pubmed
    ..The Sequence Report and Contig Report pages are the web interface core structures which, together with the Text search utility and the Blast utility, allow easy access to the data stored in the database. ..
  12. Battilana J, Costantini L, Emanuelli F, Sevini F, Segala C, Moser S, et al. The 1-deoxy-D: -xylulose 5-phosphate synthase gene co-localizes with a major QTL affecting monoterpene content in grapevine. Theor Appl Genet. 2009;118:653-69 pubmed publisher
    ..Further research on the functional significance of these associations might help to understand the genetic control of Muscat flavor. ..
  13. Seripa D, Panza F, Franceschi M, D Onofrio G, Solfrizzi V, Dallapiccola B, et al. Non-apolipoprotein E and apolipoprotein E genetics of sporadic Alzheimer's disease. Ageing Res Rev. 2009;8:214-36 pubmed
    ..The second part of this article focused on some recently discovered aspects of the APOE polymorphism and their implications for SAD. An attempt to identify the future directions for non-APOE genetic research in SAD was also discussed. ..
  14. Saravanaperumal S, Pediconi D, Renieri C, La Terza A. Skipping of exons by premature termination of transcription and alternative splicing within intron-5 of the sheep SCF gene: a novel splice variant. PLoS ONE. 2012;7:e38657 pubmed publisher
    ..This work provides a basis for understanding the functional role and regulation of SCF in hair follicle melanogenesis in sheep beyond what was known in mice, humans and other mammals. ..
  15. Battilana J, Lorenzi S, Moreira F, Moreno Sanz P, Failla O, Emanuelli F, et al. Linkage mapping and molecular diversity at the flower sex locus in wild and cultivated grapevine reveal a prominent SSR haplotype in hermaphrodite plants. Mol Biotechnol. 2013;54:1031-7 pubmed publisher
  16. Rasola A, Galietta L, Barone V, Romeo G, Bagnasco S. Molecular cloning and functional characterization of a GABA/betaine transporter from human kidney. FEBS Lett. 1995;373:229-33 pubmed
    ..At 500 microM the GABA transport was inhibited by various compounds with the following potency order: quinidine > verapamil > phloretin > betaine. ..
  17. Corti O, Finocchiaro G, Rossi E, Zuffardi O, DiDonato S. Molecular cloning of cDNAs encoding human carnitine acetyltransferase and mapping of the corresponding gene to chromosome 9q34.1. Genomics. 1994;23:94-9 pubmed
    ..CAT cDNA has also been used for fluorescence in situ hybridization on metaphase spreads of human chromosomes, and the corresponding gene, CAT1, has been mapped to chromosome 9q34.1. ..
  18. Gariboldi M, Sturani E, Canzian F, De Gregorio L, Manenti G, Dragani T, et al. Genetic mapping of the mouse CDC25Mm gene, a ras-specific guanine nucleotide-releasing factor, to chromosome 9. Genomics. 1994;21:451-3 pubmed
  19. Rossolini G, Muscas P, Chiesurin A, Satta G. Analysis of the Salmonella fim gene cluster: identification of a new gene (fimI) encoding a fimbrin-like protein and located downstream from the fimA gene. FEMS Microbiol Lett. 1993;114:259-65 pubmed
    ..This genetic organization was found to be common to other Salmonella serovars, including S. typhimurium and S. choleraesuis...
  20. Colosimo A, Calabrese G, Gennarelli M, Ruzzo A, Sangiuolo F, Magnani M, et al. Assignment of the hexokinase type 3 gene (HK3) to human chromosome band 5q35.3 by somatic cell hybrids and in situ hybridization. Cytogenet Cell Genet. 1996;74:187-8 pubmed
  21. Montini E, Andolfi G, Caruso A, Buchner G, Walpole S, Mariani M, et al. Identification and characterization of a novel serine-threonine kinase gene from the Xp22 region. Genomics. 1998;51:427-33 pubmed
    ..Sequence homologies, expression pattern, and mapping information in both human and mouse make STK9 a candidate gene for the above-mentioned disorders. ..
  22. Ragone G, Caizzi R, Moschetti R, Barsanti P, De Pinto V, Caggese C. The Drosophila melanogaster gene for the NADH:ubiquinone oxidoreductase acyl carrier protein: developmental expression analysis and evidence for alternatively spliced forms. Mol Gen Genet. 1999;261:690-7 pubmed
    ..RNA in situ hybridization on embryos indicates that the mtacp1 gene is highly expressed in the tracheal system. Zygotic mtacp1 function is required for both male and female gametogenesis. ..
  23. Calamita G, Spalluto C, Mazzone A, Rocchi M, Svelto M. Cloning, structural organization and chromosomal localization of the mouse aquaporin-8 water channel gene (Aqp8). Cytogenet Cell Genet. 1999;85:237-41 pubmed
  24. Brancaccio M, Guazzone S, Menini N, Sibona E, Hirsch E, De Andrea M, et al. Melusin is a new muscle-specific interactor for beta(1) integrin cytoplasmic domain. J Biol Chem. 1999;274:29282-8 pubmed
  25. Tiso N, Majetti M, Stanchi F, Rampazzo A, Zimbello R, Nava A, et al. Fine mapping and genomic structure of ACTN2, the human gene coding for the sarcomeric isoform of alpha-actinin-2, expressed in skeletal and cardiac muscle. Biochem Biophys Res Commun. 1999;265:256-9 pubmed
    ..This will enable mutation screening in patients affected with hereditary diseases linked to the marker CA4F/R, a polymorphism in the last intron of the alpha-actinin-2 gene. ..
  26. Giardino D, Finelli P, Gottardi G, De Canal G, Della Monica M, Lonardo F, et al. Narrowing the candidate region of Albright hereditary osteodystrophy-like syndrome by deletion mapping in a patient with an unbalanced cryptic translocation t(2;6)(q37.3;q26). Am J Med Genet A. 2003;122A:261-5 pubmed
    ..3-qter monosomy ascertained in our patient is the smallest so far described within the syndrome's critical interval, and may thus enhance the search for the responsible genes...
  27. Giuntini E, Mengoni A, De Filippo C, Cavalieri D, Aubin Horth N, Landry C, et al. Large-scale genetic variation of the symbiosis-required megaplasmid pSymA revealed by comparative genomic analysis of Sinorhizobium meliloti natural strains. BMC Genomics. 2005;6:158 pubmed
    ..The obtained results allow to conclude that the symbiosis-required megaplasmid pSymA can be considered the major hot-spot for intra-specific differentiation in S. meliloti. ..
  28. Nigro V, Piluso G, Belsito A, Politano L, Puca A, Papparella S, et al. Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein. Hum Mol Genet. 1996;5:1179-86 pubmed
    ..The gene spans at least 100 kb and is composed of eight exons. The identification of a novel sarcoglycan component modifies the current model of the dystrophin-glycoprotein complex. ..
  29. Ferrante M, Ghiani M, Bulfone A, Franco B. IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system. Gene. 2001;275:217-21 pubmed
    ..5. The homologies together with the pattern of expression render ILRAPL2 a candidate gene for disorders displaying involvement of the CNS, including the MRX loci for which the gene has not been identified yet. ..
  30. Combi R, Ferini Strambi L, Montruccoli A, Bianchi V, Malcovati M, Zucconi M, et al. Two new putative susceptibility loci for ADNFLE. Brain Res Bull. 2005;67:257-63 pubmed
    ..In particular, we propose and discuss the hypothesis of a digenic transmission of the disease. ..
  31. Lania L, Donti E, Pannuti A, Pascucci A, Pengue G, Feliciello I, et al. cDNA isolation, expression analysis, and chromosomal localization of two human zinc finger genes. Genomics. 1990;6:333-40 pubmed
    ..By in situ hybridization experiments, we have localized the ZNF7 gene to chromosome 8 (region q24) and the ZNF8 gene to the terminal band of the long arm of chromosome 20 (20q13). ..
  32. Gariboldi M, Manenti G, Dragani T, Pierotti M. Chromosome mapping of nine tropomyosin-related sequences in mice. Mamm Genome. 1995;6:273-7 pubmed
  33. Gellera C, Verderio E, Floridia G, Finocchiaro G, Montermini L, Cavadini P, et al. Assignment of the human carnitine palmitoyltransferase II gene (CPT1) to chromosome 1p32. Genomics. 1994;24:195-7 pubmed
  34. Villa A, Zucchi I, Pilia G, Strina D, Susani L, Morali F, et al. ZNF75: isolation of a cDNA clone of the KRAB zinc finger gene subfamily mapped in YACs 1 Mb telomeric of HPRT. Genomics. 1993;18:223-9 pubmed
    ..Two other motifs, 87 and 78% homologous to ZNF75 at the amino acid level, were identified by PCR on total human DNA, but map outside Xq24-qter. ..
  35. Esposito T, Gianfrancesco F, Ciccodicola A, D ESPOSITO M, Nagaraja R, Mazzarella R, et al. Escape from X inactivation of two new genes associated with DXS6974E and DXS7020E. Genomics. 1997;43:183-90 pubmed
    ..Neither transcript has a corresponding sequence on the Y. Thus, they exhibit double dosage in females compared to males, and inactivation status may be inconsequential for these transcribed sequences. ..
  36. Margaglione M, Cappucci G, Colaizzo D, Giuliani N, Vecchione G, Grandone E, et al. The PAI-1 gene locus 4G/5G polymorphism is associated with a family history of coronary artery disease. Arterioscler Thromb Vasc Biol. 1998;18:152-6 pubmed
    ..60). The PAI-1 4G/5G polymorphism to some extent thus accounts for the risk of CAD related to a family history for such an event. These findings support the hypothesis that the 4G variant is a transmissible coronary risk factor. ..
  37. Cairo S, Merla G, Urbinati F, Ballabio A, Reymond A. WBSCR14, a gene mapping to the Williams--Beuren syndrome deleted region, is a new member of the Mlx transcription factor network. Hum Mol Genet. 2001;10:617-27 pubmed
    ..Our data support the view that the Max-like bHLHZip protein, Mlx, is a key element of a transcription factor network. We thus suggest that WBSCR14 may contribute to some aspects of the WBS pathology. ..
  38. Ombra M, Forabosco P, Casula S, Angius A, Maestrale G, Petretto E, et al. Identification of a new candidate locus for uric acid nephrolithiasis. Am J Hum Genet. 2001;68:1119-29 pubmed
    ..Replication studies are required to investigate the involvement of these regions in the genetic contribution to uric acid stone formation. ..
  39. Davoli R, Fontanesi L, Zambonelli P, Bigi D, Gellin J, Yerle M, et al. Isolation of porcine expressed sequence tags for the construction of a first genomic transcript map of the skeletal muscle in pig. Anim Genet. 2002;33:3-18 pubmed
    ..The mapping of these cDNAs contributed to the construction of a first genomic transcript map of the skeletal muscle tissue in pig. ..
  40. Zollino M, Lecce R, Fischetto R, Murdolo M, Faravelli F, Selicorni A, et al. Mapping the Wolf-Hirschhorn syndrome phenotype outside the currently accepted WHS critical region and defining a new critical region, WHSCR-2. Am J Hum Genet. 2003;72:590-7 pubmed
    ..On the basis of genotype-phenotype correlation analysis, dividing the WHS phenotype into two distinct clinical entities, a "classical" and a "mild" form, is recommended for the purpose of proper genetic counseling. ..
  41. Dumas F, Bigoni F, Stone G, Sineo L, Stanyon R. Mapping genomic rearrangements in titi monkeys by chromosome flow sorting and multidirectional in-situ hybridization. Chromosome Res. 2005;13:85-96 pubmed
  42. Mantegazza M, Gambardella A, Rusconi R, Schiavon E, Annesi F, Cassulini R, et al. Identification of an Nav1.1 sodium channel (SCN1A) loss-of-function mutation associated with familial simple febrile seizures. Proc Natl Acad Sci U S A. 2005;102:18177-82 pubmed
    ..Thus, M145T is a loss-of-function mutant. These results show that monogenic FS should also be considered a channelopathy. ..
  43. Gennaro E, Santorelli F, Bertini E, Buti D, Gaggero R, Gobbi G, et al. Somatic and germline mosaicisms in severe myoclonic epilepsy of infancy. Biochem Biophys Res Commun. 2006;341:489-93 pubmed
    ..The identification of germline mosaicisms has important consequences in genetic counseling of SMEI when SCN1A mutations appear to occur de novo with standard screening methods. ..
  44. Girelli D, Martinelli N, Peyvandi F, Olivieri O. Genetic architecture of coronary artery disease in the genome-wide era: implications for the emerging "golden dozen" loci. Semin Thromb Hemost. 2009;35:671-82 pubmed publisher
    ..Although these genetic variants have little or no current predictive value of at the level of individual patients, they have the potential to disclose novel biological mechanisms involved in the pathophysiology of CAD/MI. ..
  45. Verlotta A, De Simone V, Mastrangelo A, Cattivelli L, Papa R, Trono D. Insight into durum wheat Lpx-B1: a small gene family coding for the lipoxygenase responsible for carotenoid bleaching in mature grains. BMC Plant Biol. 2010;10:263 pubmed publisher
  46. Finocchiaro G, Taroni F, Rocchi M, Martin A, Colombo I, Tarelli G, et al. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A. 1991;88:661-5 pubmed
    ..The gene encoding CPTase was assigned to human chromosome 1, region 1q12-1pter, by hybridization of CPTase cDNA with a DNA panel of 19 human-hamster somatic cell hybrids. ..
  47. Pisano C, Bonaccorsi S, Gatti M. The kl-3 loop of the Y chromosome of Drosophila melanogaster binds a tektin-like protein. Genetics. 1993;133:569-79 pubmed
    ..This finding supports the hypothesis that the Y loops fulfill a protein-binding function required for the proper assembly of the axoneme components. ..
  48. Matoskova B, Wong W, Seki N, Nagase T, Nomura N, Robbins K, et al. RN-tre identifies a family of tre-related proteins displaying a novel potential protein binding domain. Oncogene. 1996;12:2563-71 pubmed
    ..Moreover, we identified, within the N-terminus of RN-tre and tre, a domain (named TrH, for Tre Homology), which is conserved within several proteins from yeast to mammals and has protein-binding properties in vitro. ..
  49. Ginetti F, Perego M, Albertini A, Galizzi A. Bacillus subtilis mutS mutL operon: identification, nucleotide sequence and mutagenesis. Microbiology. 1996;142 ( Pt 8):2021-9 pubmed
    ..The expression of the mut operon was studied with the use of a mutSL-lacZ transcriptional fusion. An increase in expression was observed during late exponential growth. ..
  50. Viggiano L, Caggese C, Barsanti P, Caizzi R. Cloning and characterization of a copy of Tirant transposable element in Drosophila melanogaster. Gene. 1997;197:29-35 pubmed
    ..In addition, the cloned element appears to be a subgenomic fragment of a not yet identified complete element, because only the integrase domain of the reverse transcriptase gene is found. ..
  51. Volta M, Bulfone A, Gattuso C, Rossi E, Mariani M, Consalez G, et al. Identification and characterization of CDS2, a mammalian homolog of the Drosophila CDP-diacylglycerol synthase gene. Genomics. 1999;55:68-77 pubmed
    ..Knowledge of the expression pattern of these genes in mammals may shed light on the evolution of vision mechanisms and help in the evaluation of candidate genes for human retinopathies. ..
  52. Carrera P, Piatti M, Stenirri S, Grimaldi L, Marchioni E, Curcio M, et al. Genetic heterogeneity in Italian families with familial hemiplegic migraine. Neurology. 1999;53:26-33 pubmed
    ..Genetic heterogeneity of FHM has been shown in familial and sporadic FHM patients of Italian origin. The new missense mutation-G4644T-is associated with milder clinical features compared with typical FHM. ..
  53. Belluardo N, Trovato Salinaro A, Mudo G, Hurd Y, Condorelli D. Structure, chromosomal localization, and brain expression of human Cx36 gene. J Neurosci Res. 1999;57:740-52 pubmed
    ..The knowledge of the human Cx36 gene sequence, of its chromosomal localization, and of its pattern of expression opens new avenues for the analysis of its possible involvement in human genetic and acquired neuropathology. ..
  54. Fogli A, Giglio S, Arrigo G, Lo Nigro C, Zollo M, Viggiano L, et al. Identification of two paralogous regions mapping to the short and long arms of human chromosome 2 comprising LIS1 pseudogenes. Cytogenet Cell Genet. 1999;86:225-32 pubmed
    ..We also demonstrate that the cDNA sequence shown as part of the LIS2 gene and marking its chromosome 2 specificity belongs to the 3' untranslated region of a different gene (C1orf6) that we mapped to 1q21 by FISH analysis. ..
  55. Ferrante M, Giorgio G, Feather S, Bulfone A, Wright V, Ghiani M, et al. Identification of the gene for oral-facial-digital type I syndrome. Am J Hum Genet. 2001;68:569-76 pubmed
    ..The involvement of OFD1 in oral-facial-digital type I syndrome demonstrates an important role of this gene in human development. ..
  56. Melchionda S, Ahituv N, Bisceglia L, Sobe T, Glaser F, Rabionet R, et al. MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice, is mutated in autosomal dominant nonsyndromic hearing loss. Am J Hum Genet. 2001;69:635-40 pubmed
  57. Spena S, Duga S, Asselta R, Peyvandi F, Mahasandana C, Malcovati M, et al. Congenital afibrinogenaemia caused by uniparental isodisomy of chromosome 4 containing a novel 15-kb deletion involving fibrinogen Aalpha-chain gene. Eur J Hum Genet. 2004;12:891-8 pubmed
    ..In silico analyses of the regions surrounding the breakpoints suggested that the 15-kb deletion might have originated from an inappropriate repair of a double-strand break by the nonhomologous end joining mechanism. ..
  58. Giardina E, Pietrangeli I, Martone C, Asili P, Predazzi I, Marsala P, et al. In silico and in vitro comparative analysis to select, validate and test SNPs for human identification. BMC Genomics. 2007;8:457 pubmed
  59. Barchi L, Lanteri S, Portis E, Stàgel A, Valè G, Toppino L, et al. Segregation distortion and linkage analysis in eggplant (Solanum melongena L.). Genome. 2010;53:805-15 pubmed publisher
  60. Barbieri M, Marcel T, Niks R, Francia E, Pasquariello M, Mazzamurro V, et al. QTLs for resistance to the false brome rust Puccinia brachypodii in the model grass Brachypodium distachyon L. Genome. 2012;55:152-63 pubmed publisher
    ..The results obtained offer perspectives to elucidate the molecular basis of quantitative resistance to rust fungi...
  61. Nardese V, Gutlich M, Brambilla A, Carbone M. Disruption of the GTP-cyclohydrolase I gene in Saccharomyces cerevisiae. Biochem Biophys Res Commun. 1996;218:273-9 pubmed
    ..The gene was identified as FOL2, previously genetically mapped in the same region (J. Game, personal communication). ..
  62. Malgaretti N, Pozzoli O, Bosetti A, Corradi A, Ciarmatori S, Panigada M, et al. Mmot1, a new helix-loop-helix transcription factor gene displaying a sharp expression boundary in the embryonic mouse brain. J Biol Chem. 1997;272:17632-9 pubmed
  63. Elia M, Musumeci S, Ferri R, Cammarata M. Trisomy 12p and epilepsy with myoclonic absences. Brain Dev. 1998;20:127-30 pubmed
    ..Our patient and other sporadic reports in the literature seem to support the hypothesis that, at least in some cases, myoclonic absences can be a direct or indirect effect of a chromosomopathy. ..
  64. Grifa A, Totaro A, Rommens J, Carella M, Roetto A, Borgato L, et al. GABA (gamma-amino-butyric acid) neurotransmission: identification and fine mapping of the human GABAB receptor gene. Biochem Biophys Res Commun. 1998;250:240-5 pubmed
    ..The GABAB receptor has been mapped to human chromosome 6p21.3 within the HLA class I region close to the HLA-F gene. Susceptibility loci for multiple sclerosis, epilepsy, and schizophrenia have been suggested to map in this region. ..
  65. Guerrini R, Bonanni P, Nardocci N, Parmeggiani L, Piccirilli M, De Fusco M, et al. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol. 1999;45:344-52 pubmed
    ..This report shows that idiopathic focal disorders such as epilepsy and dystonia, can be caused by the same genetic abnormality, may have a transient expression, and may be inherited as an autosomal recessive trait. ..
  66. Ferrero E, Malavasi F. The metamorphosis of a molecule: from soluble enzyme to the leukocyte receptor CD38. J Leukoc Biol. 1999;65:151-61 pubmed
    ..CD38 challenges our expectations of a surface molecule and we must sift through its many guises to unmask its true nature. ..
  67. Morello R, Tonachini L, Monticone M, Viggiano L, Rocchi M, Cancedda R, et al. cDNA cloning, characterization and chromosome mapping of Crtap encoding the mouse cartilage associated protein. Matrix Biol. 1999;18:319-24 pubmed
    ..Immunohistochemistry studies show that the protein is expressed in all mouse embryonic cartilages. The mouse cartilage associated protein gene (Crtap) was assigned to chromosome 9F3-F4 by fluorescence in situ hybridization. ..
  68. Barbon A, Ferraboli S, Barlati S. Assignment of the human metabotropic glutamate receptor gene GRM7 to chromosome 3p26.1-->p25.2 by radiation hybrid mapping. Cytogenet Cell Genet. 2000;88:288 pubmed
  69. Dragani T, Peissel B, Zanesi N, Aloisi A, Dai Y, Kato M, et al. Mapping of melanoma modifier loci in RET transgenic mice. Jpn J Cancer Res. 2000;91:1142-7 pubmed
  70. Romagnoli S, Roncalli M, Graziani D, Cassani B, Roz E, Bonavina L, et al. Molecular alterations of Barrett's esophagus on microdissected endoscopic biopsies. Lab Invest. 2001;81:241-7 pubmed
    ..Some of them precede the development of intestinal metaplasia, suggesting that genetic alterations take place earlier than previously thought. ..
  71. Reymond A, Meroni G, Fantozzi A, Merla G, Cairo S, Luzi L, et al. The tripartite motif family identifies cell compartments. EMBO J. 2001;20:2140-51 pubmed
    ..A total of 37 TRIM genes/proteins were studied, 21 of which were novel. The results demonstrate that TRIM proteins share a common function: by means of homo-multimerization they identify specific cell compartments. ..
  72. Papa S, Petruzzella V, Scacco S, Vergari R, Panelli D, Tamborra R, et al. Respiratory complex I in brain development and genetic disease. Neurochem Res. 2004;29:547-60 pubmed
    ..All the NDUFS4 mutations resulted in impairment of the assembly of a functional complex. The observations presented provide evidence showing a critical role of complex I in differentiation and functional activity of brain cells. ..
  73. Cairoli R, Beghini A, Morello E, Grillo G, Montillo M, Larizza L, et al. Imatinib mesylate in the treatment of Core Binding Factor leukemias with KIT mutations. A report of three cases. Leuk Res. 2005;29:397-400 pubmed
    ..Whether Imatinib, in combination with other agents, may play a role in the treatment of AML with more sensitive extracellular juxtamembrane KIT mutation remains to be determined. ..
  74. Balaci L, Spada M, Olla N, Sole G, Loddo L, Anedda F, et al. IRAK-M is involved in the pathogenesis of early-onset persistent asthma. Am J Hum Genet. 2007;80:1103-14 pubmed
    ..Our data suggest a mechanistic link between hyperactivation of the innate immune system and chronic airway inflammation and indicate IRAK-M as a potential target for therapeutic intervention against asthma. ..
  75. Verde I, Jenkins J, Dondini L, Micali S, Pagliarani G, Vendramin E, et al. The Peach v2.0 release: high-resolution linkage mapping and deep resequencing improve chromosome-scale assembly and contiguity. BMC Genomics. 2017;18:225 pubmed publisher
  76. Romano V, Raimondi E, Bosco P, Feo S, Di Pietro C, Leube R, et al. Chromosomal mapping of human cytokeratin 13 gene (KRT13). Genomics. 1992;14:495-7 pubmed
    ..In situ hybridization of a KRT13 cDNA probe to metaphase chromosomes allowed the assignment of the KRT13 gene within the q12-q21.2 region of chromosome 17. ..
  77. Pimpinelli S, Dimitri P. Cytogenetic analysis of segregation distortion in Drosophila melanogaster: the cytological organization of the Responder (Rsp) locus. Genetics. 1989;121:765-72 pubmed
    ..Quantitative variations of the h39 region were observed. The degree of sensitivity to Sd was found to be directly correlated with the physical size of that region, demonstrating that the Rsp locus is composed of repeated DNA. ..
  78. D Avino P, Crispi S, Polito L, Furia M. The role of the BR-C locus on the expression of genes located at the ecdysone-regulated 3C puff of Drosophila melanogaster. Mech Dev. 1995;49:161-71 pubmed
  79. Gariboldi M, Maestrini E, Canzian F, Manenti G, De Gregorio L, Rivella S, et al. Comparative mapping of the actin-binding protein 280 genes in human and mouse. Genomics. 1994;21:428-30 pubmed
  80. Pessino A, Sivori S, Bottino C, Malaspina A, Morelli L, Moretta L, et al. Molecular cloning of NKp46: a novel member of the immunoglobulin superfamily involved in triggering of natural cytotoxicity. J Exp Med. 1998;188:953-60 pubmed
    ..In conclusion, this study reports the first characterization of the molecular structure of a NK-specific receptor involved in the mechanism of NK cell activation during natural cytotoxicity. ..
  81. Ferraresso S, Kuhl H, Milan M, Ritchie D, Secombes C, Reinhardt R, et al. Identification and characterisation of a novel immune-type receptor (NITR) gene cluster in the European sea bass, Dicentrarchus labrax, reveals recurrent gene expansion and diversification by positive selection. Immunogenetics. 2009;61:773-88 pubmed publisher
    ..In this study, we demonstrate that species-specific gene expansions provide the raw material for diversifying, positive Darwinian selection favouring the evolution of a highly diverse array of molecules. ..
  82. Di Fonzo N, Hartings H, Brembilla M, Motto M, Soave C, Navarro E, et al. The b-32 protein from maize endosperm, an albumin regulated by the O2 locus: nucleic acid (cDNA) and amino acid sequences. Mol Gen Genet. 1988;212:481-7 pubmed
    ..The cloning of this gene may help in understanding the role of the O2 and O6 loci in regulating the deposition of zein, the major storage protein of maize endosperm. ..
  83. Censini S, Lange C, Xiang Z, Crabtree J, Ghiara P, Borodovsky M, et al. cag, a pathogenicity island of Helicobacter pylori, encodes type I-specific and disease-associated virulence factors. Proc Natl Acad Sci U S A. 1996;93:14648-53 pubmed
    ..Thus, we believe the cag region may encode a novel H. pylori secretion system for the export of virulence determinants. ..
  84. Sabbioni S, Barbanti Brodano G, Croce C, Negrini M. GOK: a gene at 11p15 involved in rhabdomyosarcoma and rhabdoid tumor development. Cancer Res. 1997;57:4493-7 pubmed
    ..Because rhabdomyosarcomas have been observed in cases of Beckwith-Wiedemann syndrome, a genetic disorder linked to 11p15, a role of GOK in this disease cannot be excluded. ..
  85. Schito A, Pizzuti A, Di Maria E, Schenone A, Ratti A, Defferrari R, et al. mRNA distribution in adult human brain of GRIN2B, a N-methyl-D-aspartate (NMDA) receptor subunit. Neurosci Lett. 1997;239:49-53 pubmed
    ..The non-ubiquitous anatomical distribution of the GRIN2B mRNA in the central nervous system suggests that the gene could be involved in specific functions pertaining to the expressing cell groups. ..
  86. Egeo A, Di Lisi1 R, Sandri C, Mazzocco M, Lapide M, Schiaffino S, et al. Developmental expression of the SH3BGR gene, mapping to the Down syndrome heart critical region. Mech Dev. 2000;90:313-6 pubmed
    ..Our results, demonstrating that Sh3bgr is expressed in earliest stages of mouse heart development, support a possible role of this gene in heart morphogenesis and, consequently, in the pathogenesis of CHD in DS. ..
  87. Pavesi G, Zambelli F, Pesole G. WeederH: an algorithm for finding conserved regulatory motifs and regions in homologous sequences. BMC Bioinformatics. 2007;8:46 pubmed
    ..We also show examples on how the algorithm can be successfully employed when promoter annotations of the genes investigated are missing, or when regulatory sites and regions are located far away from the genes. ..
  88. Piro R, Molineris I, Ala U, Provero P, Di Cunto F. Candidate gene prioritization based on spatially mapped gene expression: an application to XLMR. Bioinformatics. 2010;26:i618-24 pubmed publisher
    ..We apply our method to the case of X-linked mental retardation, compare the predictions to the results obtained from a previous large-scale resequencing study of chromosome X and discuss some promising novel candidates. ..
  89. Scaglione D, Reyes Chin Wo S, Acquadro A, Froenicke L, Portis E, Beitel C, et al. The genome sequence of the outbreeding globe artichoke constructed de novo incorporating a phase-aware low-pass sequencing strategy of F1 progeny. Sci Rep. 2016;6:19427 pubmed publisher
    ..Our data will enable genome-scale analyses of evolutionary processes among crops, weeds, and wild species within and beyond the Compositae, and will facilitate the identification of economically important genes from related species. ..
  90. McKay J, Hung R, Han Y, Zong X, Carreras Torres R, Christiani D, et al. Large-scale association analysis identifies new lung cancer susceptibility loci and heterogeneity in genetic susceptibility across histological subtypes. Nat Genet. 2017;49:1126-1132 pubmed publisher
    ..Other loci include genes such as a cholinergic nicotinic receptor, CHRNA2, and the telomere-related genes OFBC1 and RTEL1. Further exploration of the target genes will continue to provide new insights into the etiology of lung cancer...
  91. Notarangelo L, Duse M, Ugazio A. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992;3:101-21 pubmed
    ..Treatment is mainly based upon regular administration of intravenous immunoglobulins. Steroids may be useful in the treatment of neutropaenia and of severe autoimmune manifestations. ..
  92. Gariboldi M, Montecucco A, Columbano A, Ledda Columbano G, Savini E, Manenti G, et al. Genetic mapping and expression analysis of the murine DNA ligase I gene. Mol Carcinog. 1995;14:71-4 pubmed
    ..The results demonstrate that Lig1 is expressed in the liver during active cell proliferation. ..