These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

214 related articles for article (PubMed ID: 31653080)

  • 21. Lysinuric Protein Intolerance Presenting with Multiple Fractures.
    Posey JE; Burrage LC; Miller MJ; Liu P; Hardison MT; Elsea SH; Sun Q; Yang Y; Willis AS; Schlesinger AE; Bacino CA; Lee BH
    Mol Genet Metab Rep; 2014; 1():176-183. PubMed ID: 25419514
    [TBL] [Abstract][Full Text] [Related]  

  • 22. 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]  

  • 23. Lung involvement in children with lysinuric protein intolerance.
    Valimahamed-Mitha S; Berteloot L; Ducoin H; Ottolenghi C; de Lonlay P; de Blic J
    J Inherit Metab Dis; 2015 Mar; 38(2):257-63. PubMed ID: 25335805
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Imbalance of plasma amino acids, metabolites and lipids in patients with lysinuric protein intolerance (LPI).
    Kurko J; Tringham M; Tanner L; Näntö-Salonen K; Vähä-Mäkilä M; Nygren H; Pöhö P; Lietzen N; Mattila I; Olkku A; Hyötyläinen T; Orešič M; Simell O; Niinikoski H; Mykkänen J
    Metabolism; 2016 Sep; 65(9):1361-75. PubMed ID: 27506743
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Renal Involvement in a French Paediatric Cohort of Patients with Lysinuric Protein Intolerance.
    Nicolas C; Bednarek N; Vuiblet V; Boyer O; Brassier A; De Lonlay P; Galmiche L; Krug P; Baudouin V; Pichard S; Schiff M; Pietrement C
    JIMD Rep; 2016; 29():11-17. PubMed ID: 26608393
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Growth hormone deficiency in a patient with lysinuric protein intolerance.
    Esposito V; Lettiero T; Fecarotta S; Sebastio G; Parenti G; Salerno M
    Eur J Pediatr; 2006 Nov; 165(11):763-6. PubMed ID: 16775724
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Lysinuric protein intolerance (LPI): a multi organ disease by far more complex than a classic urea cycle disorder.
    Ogier de Baulny H; Schiff M; Dionisi-Vici C
    Mol Genet Metab; 2012 May; 106(1):12-7. PubMed ID: 22402328
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Increased NO production in lysinuric protein intolerance.
    Mannucci L; Emma F; Markert M; Bachmann C; Boulat O; Carrozzo R; Rizzoni G; Dionisi-Vici C
    J Inherit Metab Dis; 2005; 28(2):123-9. PubMed ID: 15877200
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Exploring the transcriptomic variation caused by the Finnish founder mutation of lysinuric protein intolerance (LPI).
    Tringham M; Kurko J; Tanner L; Tuikkala J; Nevalainen OS; Niinikoski H; Näntö-Salonen K; Hietala M; Simell O; Mykkänen J
    Mol Genet Metab; 2012 Mar; 105(3):408-15. PubMed ID: 22221392
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Downregulation of SLC7A7 Triggers an Inflammatory Phenotype in Human Macrophages and Airway Epithelial Cells.
    Rotoli BM; Barilli A; Visigalli R; Ingoglia F; Milioli M; Di Lascia M; Riccardi B; Puccini P; Dall'Asta V
    Front Immunol; 2018; 9():508. PubMed ID: 29616026
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Clinical features of children with lysinuric protein intolerance and SLC7A7 gene mutation: an analysis of 3 cases].
    Cui D; Hu YH; Tang G; Shen D; Chen L; Liao JX; Chen SL
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Apr; 21(4):375-380. PubMed ID: 31014432
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Interactions of y+LAT1 and 4F2hc in the y+l amino acid transporter complex: consequences of lysinuric protein intolerance-causing mutations.
    Toivonen M; Tringham M; Kurko J; Terho P; Simell O; Heiskanen KM; Mykkänen J
    Gen Physiol Biophys; 2013 Dec; 32(4):479-88. PubMed ID: 23940088
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. New mutations in the SLC7A7 gene of two chinese sisters with lysinuric protein intolerance.
    Zhang G; Cao L
    Pediatr Pulmonol; 2017 Nov; 52(11):E94-E96. PubMed ID: 29058386
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Renal involvement in lysinuric protein intolerance: contribution of pathology to assessment of heterogeneity of renal lesions.
    Estève E; Krug P; Hummel A; Arnoux JB; Boyer O; Brassier A; de Lonlay P; Vuiblet V; Gobin S; Salomon R; Piètrement C; Bonnefont JP; Servais A; Galmiche L
    Hum Pathol; 2017 Apr; 62():160-169. PubMed ID: 28087478
    [TBL] [Abstract][Full Text] [Related]  

  • 40.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.