about
EYA4, a novel vertebrate gene related to Drosophila eyes absentX-linked late-onset sensorineural deafness caused by a deletion involving OA1 and a novel gene containing WD-40 repeatsA homeobox gene, vax2, controls the patterning of the eye dorsoventral axisNon-type I cystinuria caused by mutations in SLC7A9, encoding a subunit (bo,+AT) of rBATSenataxin modulates neurite growth through fibroblast growth factor 8 signallingMolecular cloning and characterization of NEU4, the fourth member of the human sialidase gene familyRox, a novel bHLHZip protein expressed in quiescent cells that heterodimerizes with Max, binds a non-canonical E box and acts as a transcriptional repressor.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 sterilityThe gene encoding a cationic amino acid transporter (SLC7A4) maps to the region deleted in the velocardiofacial syndromeCharacterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane proteinStructure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intoleranceSLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intoleranceSequencing analysis of forty-eight human image cDNA clones similar to Drosophila mutant proteinNF-kappaB pathway: a target for preventing beta-amyloid (Abeta)-induced neuronal damage and Abeta42 productionIn silico identification of new putative pathogenic variants in the NEU1 sialidase gene affecting enzyme function and subcellular localizationSlc7a7 disruption causes fetal growth retardation by downregulating Igf1 in the mouse model of lysinuric protein intoleranceSLC7A8, a gene mapping within the lysinuric protein intolerance critical region, encodes a new member of the glycoprotein-associated amino acid transporter familyIdentification and characterisation of human xCT that co-expresses, with 4F2 heavy chain, the amino acid transport activity system xc-A fish-specific transposable element shapes the repertoire of p53 target genes in zebrafishGallus gallus NEU3 sialidase as model to study protein evolution mechanism based on rapid evolving loops.Cloning and characterization of NEU2, a human gene homologous to rodent soluble sialidases.The molecular bases of cystinuria and lysinuric protein intolerance.Properties of recombinant human cytosolic sialidase HsNEU2. The enzyme hydrolyzes monomerically dispersed GM1 ganglioside molecules.The amino acid transporter asc-1 is not involved in cystinuria.Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching.FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation.Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype.slc7a6os gene plays a critical role in defined areas of the developing CNS in zebrafishKnock-down of pantothenate kinase 2 severely affects the development of the nervous and vascular system in zebrafish, providing new insights into PKAN diseaseImportance of different types of prior knowledge in selecting genome-wide findings for follow-up.SNP prioritization using a Bayesian probability of associationDrosophila-related expressed sequences.Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.Characterization of Cxorf5 (71-7A), a novel human cDNA mapping to Xp22 and encoding a protein containing coiled-coil alpha-helical domains.Human sialic acid acetyl esterase: Towards a better understanding of a puzzling enzyme.Molecular cloning and biochemical characterization of sialidases from zebrafish (Danio rerio).Sialidase NEU3 is a peripheral membrane protein localized on the cell surface and in endosomal structures.Characterization of the AP-1 μ1A and μ1B adaptins in zebrafish (Danio rerio).Analysis of three μ1-AP1 subunits during zebrafish development.Gene expression profile in fibroblasts of Huntington's disease patients and controls.
P50
Q22008660-725C4972-F699-4625-9DEC-21E5EF5A9D72Q22010051-6A292ABE-96A4-4D32-BE97-A53B57DDAC4DQ22010374-C02B2FD5-8F85-44F5-B764-FE5DE3DF6B8FQ22010508-4E87A9E3-DD15-4A80-91D6-FA68FE16B7DFQ24303338-067C36DC-1600-4F81-B75D-B8E80274B2ADQ24307924-63BDD4D5-E096-41A6-A0A2-03A4F5BFF93AQ24310015-40534250-960A-4432-9832-83F2D46AFF81Q24316260-FB8A2902-37C5-4A7A-BEF8-E452B4184133Q24318587-D58A1182-B99B-4BE1-85EF-FDBB084AEFF6Q24337037-DB5FA49F-BB8B-41BC-B18A-8FF290DEB1DDQ24534345-5AE43DE7-25AD-45C1-AF6F-CC4E89BF5F19Q28138872-B9120DB1-849D-40B4-A9FF-BD06EDF4E8A0Q28145963-39F5A833-3D4D-4A17-91CB-92C41E76B062Q28196676-3261E65B-B374-4F73-BDFC-2A71CCC3DABFQ28542527-A479FD66-7E28-46BC-94DC-0DBA4D29F7F1Q28584950-21B47BE3-B9C7-4EFF-8085-A7D4B124DA3BQ28592625-B4FDE8FD-1EFB-4E3D-BC6B-3C874D0C6E41Q28609236-B3A88748-F9C2-4774-A412-3B0974C3CC41Q28714308-1558E36C-2FFE-4AAE-B9AB-687CAEEF5B4AQ30406306-E92F5C50-6E56-4693-BFD5-128A414E2334Q30667648-40E341D0-E265-4740-A288-ABFCA1412D33Q34264628-17A3BBB1-22BA-431C-B6E5-74E9B852E8B1Q34276292-77F0AF82-8FAB-4087-BD9A-6CE17960B6BBQ34354613-E796CAA3-8593-4BE2-804E-52980C03BF8FQ34381001-79258006-46D4-434D-8B58-0D850E9F1732Q34457921-4846528A-9DEC-4E7D-A854-5ADA34AF242CQ34771728-852E38D5-7297-42C4-923B-5213C9E47A86Q35214031-24185ACD-8082-468F-8C6F-2FE136558C47Q35811397-E4377303-2201-4825-80F4-6471E1457D1FQ37051059-D28227B2-8033-45B4-9E01-0ECC124068D6Q37051173-CFB99408-B301-4F46-928D-47B5E284F76AQ38556188-5F286C50-296E-4D6C-BB05-213F56FB4AE9Q39166578-6A4B8BD7-D14C-4FB0-8258-F2C6525B6552Q39474404-9B13A5FA-4093-44D7-B177-C84DF5BF5FA4Q40891842-2D4B4EFB-8B7D-4B9A-A8DD-6257CC9600E8Q41826097-3FF874EA-C0CF-4AB2-A2C7-1C7548318173Q42187978-0BB17804-C8F4-4F76-9427-10E8117925C4Q42961248-7AB08C8C-2CBC-4EFE-AB43-62BCEE6EA3A3Q44406492-1B4FA437-5F10-4219-8ECC-69E48C9CE5E0Q45296189-497EDDC7-D720-4932-A778-885F847805BE
P50
description
hulumtues
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Giuseppe Borsani
@ast
Giuseppe Borsani
@en
Giuseppe Borsani
@es
Giuseppe Borsani
@nl
Giuseppe Borsani
@sl
type
label
Giuseppe Borsani
@ast
Giuseppe Borsani
@en
Giuseppe Borsani
@es
Giuseppe Borsani
@nl
Giuseppe Borsani
@sl
prefLabel
Giuseppe Borsani
@ast
Giuseppe Borsani
@en
Giuseppe Borsani
@es
Giuseppe Borsani
@nl
Giuseppe Borsani
@sl
P1053
B-1709-2010
P106
P1153
7004094678
P21
P31
P3829
P496
0000-0003-0110-1148