175 related articles for article (PubMed ID: 10737982)
1. SLC7A7 genomic structure and novel variants in three Japanese lysinuric protein intolerance families.
Noguchi A; Shoji Y; Koizumi A; Takahashi T; Matsumori M; Kayo T; Ohata T; Wada Y; Yoshimura I; Maisawa S; Konishi M; Takasago Y; Takada G
Hum Mutat; 2000; 15(4):367-72. PubMed ID: 10737982
[TBL] [Abstract][Full Text] [Related]
2. Identification of SLC7A7, encoding y+LAT-1, as the lysinuric protein intolerance gene.
Torrents D; Mykkänen J; Pineda M; Feliubadaló L; Estévez R; de Cid R; Sanjurjo P; Zorzano A; Nunes V; Huoponen K; Reinikainen A; Simell O; Savontaus ML; Aula P; Palacín M
Nat Genet; 1999 Mar; 21(3):293-6. PubMed ID: 10080182
[TBL] [Abstract][Full Text] [Related]
3. Five novel SLC7A7 variants and y+L gene-expression pattern in cultured lymphoblasts from Japanese patients with lysinuric protein intolerance.
Shoji Y; Noguchi A; Shoji Y; Matsumori M; Takasago Y; Takayanagi M; Yoshida Y; Ihara K; Hara T; Yamaguchi S; Yoshino M; Kaji M; Yamamoto S; Nakai A; Koizumi A; Hokezu Y; Nagamatsu K; Mikami H; Kitajima I; Takada G
Hum Mutat; 2002 Nov; 20(5):375-81. PubMed ID: 12402335
[TBL] [Abstract][Full Text] [Related]
4. Lysinuric protein intolerance: identification and functional analysis of mutations of the SLC7A7 gene.
Sperandeo MP; Annunziata P; Ammendola V; Fiorito V; Pepe A; Soldovieri MV; Taglialatela M; Andria G; Sebastio G
Hum Mutat; 2005 Apr; 25(4):410. PubMed ID: 15776427
[TBL] [Abstract][Full Text] [Related]
5. Two alternative promoters regulate the expression of lysinuric protein intolerance gene SLC7A7.
Puomila K; Simell O; Huoponen K; Mykkänen J
Mol Genet Metab; 2007 Mar; 90(3):298-306. PubMed ID: 17196863
[TBL] [Abstract][Full Text] [Related]
6. Lysinuric protein intolerance: update and extended mutation analysis of the SLC7A7 gene.
Sperandeo MP; Andria G; Sebastio G
Hum Mutat; 2008 Jan; 29(1):14-21. PubMed ID: 17764084
[TBL] [Abstract][Full Text] [Related]
7. Functional analysis of novel mutations in y(+)LAT-1 amino acid transporter gene causing lysinuric protein intolerance (LPI).
Mykkänen J; Torrents D; Pineda M; Camps M; Yoldi ME; Horelli-Kuitunen N; Huoponen K; Heinonen M; Oksanen J; Simell O; Savontaus ML; Zorzano A; Palacín M; Aula P
Hum Mol Genet; 2000 Feb; 9(3):431-8. PubMed ID: 10655553
[TBL] [Abstract][Full Text] [Related]
8. Structure of the SLC7A7 gene and mutational analysis of patients affected by lysinuric protein intolerance.
Sperandeo MP; Bassi MT; Riboni M; Parenti G; Buoninconti A; Manzoni M; Incerti B; Larocca MR; Di Rocco M; Strisciuglio P; Dianzani I; Parini R; Candito M; Endo F; Ballabio A; Andria G; Sebastio G; Borsani G
Am J Hum Genet; 2000 Jan; 66(1):92-9. PubMed ID: 10631139
[TBL] [Abstract][Full Text] [Related]
9. Novel SLC7A7 large rearrangements in lysinuric protein intolerance patients involving the same AluY repeat.
Font-Llitjós M; Rodríguez-Santiago B; Espino M; Sillué R; Mañas S; Gómez L; Pérez-Jurado LA; Palacín M; Nunes V
Eur J Hum Genet; 2009 Jan; 17(1):71-9. PubMed ID: 18716612
[TBL] [Abstract][Full Text] [Related]
10. A cluster of lysinuric protein intolerance (LPI) patients in a northern part of Iwate, Japan due to a founder effect. The Mass Screening Group.
Koizumi A; Shoji Y; Nozaki J; Noguchi A; E X; Dakeishi M; Ohura T; Tsuyoshi K; Yasuhiko W; Manabe M; Takasago Y; Takada G
Hum Mutat; 2000 Sep; 16(3):270-1. PubMed ID: 10980538
[TBL] [Abstract][Full Text] [Related]
11. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance.
Borsani G; Bassi MT; Sperandeo MP; De Grandi A; Buoninconti A; Riboni M; Manzoni M; Incerti B; Pepe A; Andria G; Ballabio A; Sebastio G
Nat Genet; 1999 Mar; 21(3):297-301. PubMed ID: 10080183
[TBL] [Abstract][Full Text] [Related]
12. Expression of normal and mutant GFP-tagged y(+)L amino acid transporter-1 in mammalian cells.
Toivonen M; Mykkänen J; Aula P; Simell O; Savontaus ML; Huoponen K
Biochem Biophys Res Commun; 2002 Mar; 291(5):1173-9. PubMed ID: 11883940
[TBL] [Abstract][Full Text] [Related]
13. Lysinuric protein intolerance: reviewing concepts on a multisystem disease.
Sebastio G; Sperandeo MP; Andria G
Am J Med Genet C Semin Med Genet; 2011 Feb; 157C(1):54-62. PubMed ID: 21308987
[TBL] [Abstract][Full Text] [Related]
14. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M
Hum Genet; 2008 Oct; 124(3):317. PubMed ID: 18846670
[No Abstract] [Full Text] [Related]
15. Identification and characterization of a membrane protein (y+L amino acid transporter-1) that associates with 4F2hc to encode the amino acid transport activity y+L. A candidate gene for lysinuric protein intolerance.
Torrents D; Estévez R; Pineda M; Fernández E; Lloberas J; Shi YB; Zorzano A; Palacín M
J Biol Chem; 1998 Dec; 273(49):32437-45. PubMed ID: 9829974
[TBL] [Abstract][Full Text] [Related]
16. A y(+)LAT-1 mutant protein interferes with y(+)LAT-2 activity: implications for the molecular pathogenesis of lysinuric protein intolerance.
Sperandeo MP; Paladino S; Maiuri L; Maroupulos GD; Zurzolo C; Taglialatela M; Andria G; Sebastio G
Eur J Hum Genet; 2005 May; 13(5):628-34. PubMed ID: 15756301
[TBL] [Abstract][Full Text] [Related]
17. Full-length cDNA cloning and genomic organization of the mouse liver-specific organic anion transporter-1 (lst-1).
Ogura K; Choudhuri S; Klaassen CD
Biochem Biophys Res Commun; 2000 Jun; 272(2):563-70. PubMed ID: 10833452
[TBL] [Abstract][Full Text] [Related]
18. Familial hemophagocytic lymphohistiocytosis syndrome due to lysinuric protein intolerance: a patient with a novel compound heterozygous pathogenic variant in SLC7A7.
Matsukawa Y; Sakamoto K; Ikeda Y; Taga T; Kosaki K; Maruo Y
Int J Hematol; 2022 Oct; 116(4):635-638. PubMed ID: 35532875
[TBL] [Abstract][Full Text] [Related]
19. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M; Nunes V
Hum Genet; 2008 Oct; 124(3):318-9. PubMed ID: 18846673
[No Abstract] [Full Text] [Related]
20. Gene symbol: SLC7A7. Disease: Lysinuric protein intolerance.
Font-Llitjós M; Nunes V
Hum Genet; 2008 Oct; 124(3):318. PubMed ID: 18846672
[No Abstract] [Full Text] [Related]
[Next] [New Search]
