BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

231 related articles for article (PubMed ID: 28087478)

  • 1. 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]  

  • 2. 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]  

  • 3. Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood.
    Mauhin W; Habarou F; Gobin S; Servais A; Brassier A; Grisel C; Roda C; Pinto G; Moshous D; Ghalim F; Krug P; Deltour N; Pontoizeau C; Dubois S; Assoun M; Galmiche L; Bonnefont JP; Ottolenghi C; de Blic J; Arnoux JB; de Lonlay P
    Orphanet J Rare Dis; 2017 Jan; 12(1):3. PubMed ID: 28057010
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance.
    Barilli A; Rotoli BM; Visigalli R; Bussolati O; Gazzola GC; Gatti R; Dionisi-Vici C; Martinelli D; Goffredo BM; Font-Llitjós M; Mariani F; Luisetti M; Dall'Asta V
    Mol Genet Metab; 2012 Apr; 105(4):585-9. PubMed ID: 22325938
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Clinical and genetic features of lysinuric protein intolerance in Japan.
    Noguchi A; Nakamura K; Murayama K; Yamamoto S; Komatsu H; Kizu R; Takayanagi M; Okuyama T; Endo F; Takasago Y; Shoji Y; Takahashi T
    Pediatr Int; 2016 Oct; 58(10):979-983. PubMed ID: 26865117
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. Kidney diseases associated with monoclonal immunoglobulin M-secreting B-cell lymphoproliferative disorders: a case series of 35 patients.
    Chauvet S; Bridoux F; Ecotière L; Javaugue V; Sirac C; Arnulf B; Thierry A; Quellard N; Milin S; Bender S; Goujon JM; Jaccard A; Fermand JP; Touchard G
    Am J Kidney Dis; 2015 Nov; 66(5):756-67. PubMed ID: 25987261
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Overview of symptoms and treatment for lysinuric protein intolerance.
    Noguchi A; Takahashi T
    J Hum Genet; 2019 Sep; 64(9):849-858. PubMed ID: 31213652
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Biochemical and molecular characteristics of Malaysian patients with lysinuric protein intolerance.
    Habib A; Azize NA; Yakob Y; Md Yunus Z; Wee TK
    Malays J Pathol; 2016 Dec; 38(3):305-310. PubMed ID: 28028301
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. 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]  

  • 14. [Familial membranoproliferative glomerulonephritis].
    Bogdanović RM; Dimitrjević JZ; Nikolić VN; Ognjanović MV; Rodić BD; Slavković BV
    Srp Arh Celok Lek; 1999; 127(5-6):163-71. PubMed ID: 10500423
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Evaluation of a mass screening program for lysinuric protein intolerance in the northern part of Japan.
    Koizumi A; Matsuura N; Inoue S; Utsunomiya M; Nozaki J; Inoue K; Takasago Y;
    Genet Test; 2003; 7(1):29-35. PubMed ID: 12820699
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A global Slc7a7 knockout mouse model demonstrates characteristic phenotypes of human lysinuric protein intolerance.
    Stroup BM; Marom R; Li X; Hsu CW; Chang CY; Truong LD; Dawson B; Grafe I; Chen Y; Jiang MM; Lanza D; Green JR; Sun Q; Barrish JP; Ani S; Christiansen AE; Seavitt JR; Dickinson ME; Kheradmand F; Heaney JD; Lee B; Burrage LC
    Hum Mol Genet; 2020 Aug; 29(13):2171-2184. PubMed ID: 32504080
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Improving a Rare Metabolic Disorder Through Kidney Transplantation: A Case Report of a Patient With Lysinuric Protein Intolerance.
    IJzermans T; van der Meijden W; Hoeks M; Huigen M; Rennings A; Nijenhuis T
    Am J Kidney Dis; 2023 Apr; 81(4):493-496. PubMed ID: 36223829
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Kidney Biopsy: An Experience from Tertiary Hospital.
    Ghimire M; Pahari B; Paudel N; Das G; Das GC; Sharma SK
    JNMA J Nepal Med Assoc; 2014; 52(193):707-12. PubMed ID: 26905553
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Crescentic glomerulonephritis developing in the course of idiopathic membranoproliferative glomerulonephritis.
    Sharma A; Gupta R; Lal C; Agarwal SK; Dinda AK
    Saudi J Kidney Dis Transpl; 2013 Mar; 24(2):333-7. PubMed ID: 23538361
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.