Research Topics
Genomes and Genes
| G BorsaniSummaryAffiliation: Telethon Institute of Genetics and Medicine Country: Italy Publications
| Collaborators
|
Detail Information
Publications
SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intoleranceG Borsani
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy
Nat Genet 21:297-301. 1999..Furthermore, we detected a splice acceptor change resulting in a frameshift and premature translation termination in four unrelated Finnish patients. This mutation may represent the founder LPI allele in Finland...- A practical guide to orient yourself in the labyrinth of genome databasesG Borsani
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park and Università Vita e Salute San Raffaele, Milan, Italy
Hum Mol Genet 7:1641-8. 1998..With practical examples, we will try to show how the currently available information can be exploited usefully, in particular to identify candidate genes for human diseases... - SLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyM T Bassi
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Milan, Italy
Genomics 62:297-303. 1999.... - Identification and expression of NEU3, a novel human sialidase associated to the plasma membraneE Monti
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Via Olgettina 58, 20132 Milan, Italy and Department of Biomedical Science and Biotechnology, University of Brescia, Via Valsabbina 19, 25123 Brescia, Italy
Biochem J 349:343-51. 2000..8. Immunofluorescence staining of the transfected COS7 cells demonstrated the protein's localization in the plasma membrane... - Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IVM T Bassi
Telethon Institute of Genetics and Medicine TIGEM, 80131 Napoli, Italy
Am J Hum Genet 67:1110-20. 2000..Mucolipidin is likely to play an important role in endocytosis... - EYA4, a novel vertebrate gene related to Drosophila eyes absentG Borsani
Telethon Institute of Genetics and Medicine, Universitá Vita e Salute San Raffaele and Department of Biological Technological Research DIBIT, San Raffaele Biomedical Science Park, Milan, Italy
Hum Mol Genet 8:11-23. 1999..On the basis of map position and expression pattern, EYA4 is a candidate for oculo-dento-digital (ODD) syndrome, but no EYA4 mutations were found in a panel of ODD patients... - The embryonic expression pattern of 40 murine cDNAs homologous to Drosophila mutant genes (Dres): a comparative and topographic approach to predict gene functionA Bulfone
Telethon Institute of Genetics of Medicine TIGEM, San Raffaele Biomedical Science Park, Via Olgettina 58, Milan 20132, Italy
Hum Mol Genet 7:1997-2006. 1998..Furthermore, the information derived from this combined approach will be instrumental in predicting the phenotypic consequences of gene dysfunction in both mouse mutants and human genetic diseases... - A homeobox gene, vax2, controls the patterning of the eye dorsoventral axisA M Barbieri
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, 20132 Milan, Italy
Proc Natl Acad Sci U S A 96:10729-34. 1999..Altogether, these data indicate that vax2 plays a crucial role in eye development and, in particular, in the specification of the ventral optic vesicle... - A mammalian homologue of the Drosophila retinal degeneration B gene: implications for the evolution of phototransduction mechanismsF Rubboli
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy
Genes Funct 1:205-13. 1997..The identification of this gene and the study of its expression pattern in mammals will help shed new light on the evolution of vision mechanisms and suggest DRES9 as a candidate gene for human retinopathies... - X-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsM T Bassi
Telethon Institute of Genetics and Medicine, Milan, Italy
Am J Hum Genet 64:1604-16. 1999..We postulate an involvement of TBL1 in the pathogenesis of the ocular albinism with late-onset sensorineural deafness phenotype... - Identification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-M T Bassi
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, 20312 Milan, Italy
Pflugers Arch 442:286-96. 2001..The transport characteristics of human xCT and the distribution of its tissue expression strongly suggest that it corresponds to the human amino acid transporter system xc-... - Sequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant proteinS Volorio
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Milano, Italy
DNA Seq 9:307-15. 1998..We think the value of this full-length sequencing project is an enrichment of the sequence database information that is currently available to the human genome community... - Expression of a novel human sialidase encoded by the NEU2 geneE Monti
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Via Olgettina 58, 20132 Milan, Italy
Glycobiology 9:1313-21. 1999..In addition, based on the detectable similarities between the NEU2 amino acid sequence and bacterial sialidases, a prediction of the three-dimensional structure of the enzyme was carried out using a protein homology modeling approach... - The expression pattern of a mouse doublesex-related gene is consistent with a role in gonadal differentiationA De Grandi
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele, Milan, Italy
Mech Dev 90:323-6. 2000..The gene is expressed in the genital ridges of both sexes during the sex-determining switch and it shows male/female dimorphism at late stages of sex differentiation... - Drosophila-related expressed sequencesS Banfi
Telethon Institute of Genetics and Medicine, San Raffaele Biomedical Science Park, Milan, Italy
Hum Mol Genet 6:1745-53. 1997..Comparison between DRES genes and their putative partners in Drosophila contributes to the understanding of their function in mammals and to the discovery of their possible role in disease... - Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidasesE Monti
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Milan, Italy
Genomics 57:137-43. 1999..Northern blot analysis revealed expression of the NEU2 transcript only in skeletal muscle... - Rox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressorG Meroni
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Milan, Italy
EMBO J 16:2892-906. 1997..3 in a region that frequently undergoes loss of heterozygosity in a number of malignancies, together with the biochemical and expression features, suggest involvement of ROX in human neoplasia... - Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J miceE I Rugarli
Telethon Institute of Genetics and Medicine TIGEM, San Raffaele Biomedical Science Park, Milano, Italy
Nat Genet 10:466-71. 1995..Our data provide molecular evidence for a major divergence near the pseudoautosomal region, consistent with the hypothesis that hybrid sterility in these species results from abnormal pairing of sex chromosomes during male meiosis... - Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceM P Sperandeo
Department of Pediatrics, Federico II University, Naples
Am J Hum Genet 66:92-9. 2000..The DNA-based tests are now easily accessible for molecular diagnosis, genetic counseling, and prenatal diagnosis of LPI... - Molecular cloning and characterization of NEU4, the fourth member of the human sialidase gene familyE Monti
Department of Biomedical Science and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
Genomics 83:445-53. 2004..Immunofluorescence staining and Western blot analysis demonstrated the association of NEU4 with the inner cell membranes... - Non-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATL Feliubadaló
Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Autovia de Castelldefels km 2 7, L Hospitalet de Llobregat, Barcelona, E 08907, Spain
Nat Genet 23:52-7. 1999..Our data establish that mutations in SLC7A9 cause non-type I cystinuria, and suggest that bo,+AT is the light subunit of rBAT... - Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organizationM Manzoni
Sezione di Biologia e Genetica, Dipartimento di Scienze Biomediche e Biotecnologie, Viale Europa 11, 25123 Brescia, Italy
FEBS Lett 567:219-24. 2004..Among the mutants, only F408del induces a redistribution of the late endocytic compartment. These findings suggest that the overexpression of the mucolipin cation channel influences the dynamic equilibrium of late endocytic compartments... - The gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndromeM P Sperandeo
Department of Pediatrics, Federico II University, Naples, Italy
Genomics 49:230-6. 1998..By Northern analysis, an abundant transcript was detected in brain, testis, and placenta. Microinjection of SLC7A4 mRNA into Xenopus laevis oocytes demonstrates a significant stimulation of CAA transport... - Erythrocyte adducin differential properties in the normotensive and hypertensive rats of the Milan strain. Characterization of spleen adducin m-RNAS Salardi
Farmitalia Carlo Erba Istituto Richerche, Nerviano, Italy
Am J Hypertens 2:229-37. 1989..In conclusion adducin may be considered a very useful tool to test the hypothesis that the cellular differences between MHS and MNS may be caused by a difference in a membrane skeleton protein... - Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane proteinG Borsani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 27:131-41. 1995..This high degree of sequence conservation in very distantly related species such as human and yeast indicates that this gene has retained a fundamental function throughout evolution... - Molecular cloning of an adducin-like protein: evidence of a polymorphism in the normotensive and hypertensive rats of the Milan strainG Tripodi
Prassis Istituto di Ricerche Sigma Tau, Settimo Milanese, Italy
Biochem Biophys Res Commun 177:939-47. 1991..All mRNAs seem to be generated by alternative splicing from the transcript of a single gene. An interesting polymorphism, a Gln to Arg substitution, was detected in the carboxiterminal area of rat adducin 63... - Functional analysis of mutations in SLC7A9, and genotype-phenotype correlation in non-Type I cystinuriaM A Font
Centre de Genètica Mèdica i Molecular IRO, Hospital Duran i Reynals, Autovia de Castelldefels km 2 7, L Hospitalet de Llobregat, E 08907 Barcelona, Spain
Hum Mol Genet 10:305-16. 2001..These data provide the first genotype-phenotype correlation in non-Type I cystinuria, and show that a mild urinary phenotype in heterozygotes may associate with mutations with significant residual transport activity... - A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and humanA I Agulnik
Department of Obstetrics and Gynecology, University of Tennessee, Memphis 38103
Hum Mol Genet 3:879-84. 1994..This indicates that Smcx is also not subject to X-inactivation and provides the first example of a gene that is expressed from inactive and active X chromosomes in the mouse... - A gene from the Xp22.3 region shares homology with voltage-gated chloride channelsM A van Slegtenhorst
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030
Hum Mol Genet 3:547-52. 1994..These data suggest that we have identified a new voltage-gated chloride channel which is encoded by a gene located in the distal short arm of the X chromosome... - Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targetingE I Rugarli
Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030
Nat Genet 4:19-26. 1993..We propose a model in which the Kallmann syndrome gene product is a signal molecule required for neuronal targeting throughout life... - A human homologue of the Drosophila melanogaster diaphanous gene is disrupted in a patient with premature ovarian failure: evidence for conserved function in oogenesis and implications for human sterilityS Bione
Institute of Genetics, Biochemistry and Evolution, Consiglio Nationale delle Ricerche, University of Pavia, Pavia, Italy
Am J Hum Genet 62:533-41. 1998..We propose that the human DIA gene is one of the genes responsible for POF and that it affects the cell divisions that lead to ovarian follicle formation... - Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domainsL de Conciliis
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Genomics 51:243-50. 1998.... - Characterization of a murine gene expressed from the inactive X chromosomeG Borsani
Department of Cell Biology, Baylor College of Medicine, Houston, Texas 77030
Nature 351:325-9. 1991..Nucleotide sequence analysis indicates that Xist may be associated with a protein product. The similar map positions and expression patterns for Xist in mouse and man suggest that this gene may have a role in X inactivation...