BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

217 related articles for article (PubMed ID: 26426912)

  • 1. Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
    Bardet C; Courson F; Wu Y; Khaddam M; Salmon B; Ribes S; Thumfart J; Yamaguti PM; Rochefort GY; Figueres ML; Breiderhoff T; Garcia-Castaño A; Vallée B; Le Denmat D; Baroukh B; Guilbert T; Schmitt A; Massé JM; Bazin D; Lorenz G; Morawietz M; Hou J; Carvalho-Lobato P; Manzanares MC; Fricain JC; Talmud D; Demontis R; Neves F; Zenaty D; Berdal A; Kiesow A; Petzold M; Menashi S; Linglart A; Acevedo AC; Vargas-Poussou R; Müller D; Houillier P; Chaussain C
    J Bone Miner Res; 2016 Mar; 31(3):498-513. PubMed ID: 26426912
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Claudin Loss-of-Function Disrupts Tight Junctions and Impairs Amelogenesis.
    Bardet C; Ribes S; Wu Y; Diallo MT; Salmon B; Breiderhoff T; Houillier P; Müller D; Chaussain C
    Front Physiol; 2017; 8():326. PubMed ID: 28596736
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
    Yamaguti PM; Neves FA; Hotton D; Bardet C; de La Dure-Molla M; Castro LC; Scher MD; Barbosa ME; Ditsch C; Fricain JC; de La Faille R; Figueres ML; Vargas-Poussou R; Houillier P; Chaussain C; Babajko S; Berdal A; Acevedo AC
    J Med Genet; 2017 Jan; 54(1):26-37. PubMed ID: 27530400
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Hypomagnesemia with Hypercalciuria Leading to Nephrocalcinosis, Amelogenesis Imperfecta, and Short Stature in a Child Carrying a Homozygous Deletion in the CLDN16 Gene.
    Radonsky V; Kizys MML; Dotto RP; Esper PLG; Heilberg IP; Dias-da-Silva MR; Lazaretti-Castro M
    Calcif Tissue Int; 2020 Oct; 107(4):403-408. PubMed ID: 32710267
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Claudin-16 and claudin-19 interact and form a cation-selective tight junction complex.
    Hou J; Renigunta A; Konrad M; Gomes AS; Schneeberger EE; Paul DL; Waldegger S; Goodenough DA
    J Clin Invest; 2008 Feb; 118(2):619-28. PubMed ID: 18188451
    [TBL] [Abstract][Full Text] [Related]  

  • 6. ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta.
    Wang SK; Choi M; Richardson AS; Reid BM; Lin BP; Wang SJ; Kim JW; Simmer JP; Hu JC
    Hum Mol Genet; 2014 Apr; 23(8):2157-63. PubMed ID: 24305999
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Identification of the first large deletion in the CLDN16 gene in a patient with FHHNC and late-onset of chronic kidney disease: case report.
    Yamaguti PM; dos Santos PA; Leal BS; Santana VB; Mazzeu JF; Acevedo AC; Neves Fde A
    BMC Nephrol; 2015 Jul; 16():92. PubMed ID: 26136118
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Critical role for αvβ6 integrin in enamel biomineralization.
    Mohazab L; Koivisto L; Jiang G; Kytömäki L; Haapasalo M; Owen GR; Wiebe C; Xie Y; Heikinheimo K; Yoshida T; Smith CE; Heino J; Häkkinen L; McKee MD; Larjava H
    J Cell Sci; 2013 Feb; 126(Pt 3):732-44. PubMed ID: 23264742
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
    García-Castaño A; Perdomo-Ramirez A; Vall-Palomar M; Ramos-Trujillo E; Madariaga L; Ariceta G; Claverie-Martin F
    Mol Genet Genomic Med; 2020 Nov; 8(11):e1475. PubMed ID: 32869508
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Unusual clinical presentation and possible rescue of a novel claudin-16 mutation.
    Müller D; Kausalya PJ; Bockenhauer D; Thumfart J; Meij IC; Dillon MJ; van't Hoff W; Hunziker W
    J Clin Endocrinol Metab; 2006 Aug; 91(8):3076-9. PubMed ID: 16705067
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Targeted deletion of murine Cldn16 identifies extra- and intrarenal compensatory mechanisms of Ca2+ and Mg2+ wasting.
    Will C; Breiderhoff T; Thumfart J; Stuiver M; Kopplin K; Sommer K; Günzel D; Querfeld U; Meij IC; Shan Q; Bleich M; Willnow TE; Müller D
    Am J Physiol Renal Physiol; 2010 May; 298(5):F1152-61. PubMed ID: 20147368
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Histological and immunohistochemical analyses of molar tooth germ in enamelin-deficient mouse.
    Sawada T; Sekiguchi H; Uchida T; Yamashita H; Shintani S; Yanagisawa T
    Acta Histochem; 2011 Sep; 113(5):542-6. PubMed ID: 20598351
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
    Sikora P; Zaniew M; Haisch L; Pulcer B; Szczepańska M; Moczulska A; Rogowska-Kalisz A; Bieniaś B; Tkaczyk M; Ostalska-Nowicka D; Zachwieja K; Hyla-Klekot L; Schlingmann KP; Konrad M
    Nephrol Dial Transplant; 2015 Apr; 30(4):636-44. PubMed ID: 25477417
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Claudin-16 and claudin-19 interaction is required for their assembly into tight junctions and for renal reabsorption of magnesium.
    Hou J; Renigunta A; Gomes AS; Hou M; Paul DL; Waldegger S; Goodenough DA
    Proc Natl Acad Sci U S A; 2009 Sep; 106(36):15350-5. PubMed ID: 19706394
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Mutation in the tight-junction gene claudin 19 (CLDN19) and familial hypomagnesemia, hypercalciuria, nephrocalcinosis (FHHNC) and severe ocular disease.
    Naeem M; Hussain S; Akhtar N
    Am J Nephrol; 2011; 34(3):241-8. PubMed ID: 21791920
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis Due to CLDN16 Gene Mutations: Novel Findings in Two Cases with Diverse Clinical Features.
    Eltan M; Yavas Abali Z; Turkyilmaz A; Gokce I; Abali S; Alavanda C; Arman A; Kirkgoz T; Guran T; Hatun S; Bereket A; Turan S
    Calcif Tissue Int; 2022 Apr; 110(4):441-450. PubMed ID: 34761296
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Type VII collagen deficiency causes defective tooth enamel formation due to poor differentiation of ameloblasts.
    Umemoto H; Akiyama M; Domon T; Nomura T; Shinkuma S; Ito K; Asaka T; Sawamura D; Uitto J; Uo M; Kitagawa Y; Shimizu H
    Am J Pathol; 2012 Nov; 181(5):1659-71. PubMed ID: 22940071
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Identification of a Novel Homozygous Missense Mutation in the CLDN16 Gene to Decipher the Ambiguous Clinical Presentation Associated with Autosomal Dominant Hypocalcaemia and Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis in an Indian Family.
    Thapa R; Roy A; Nayek K; Basu A
    Calcif Tissue Int; 2024 Feb; 114(2):110-118. PubMed ID: 38078932
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies.
    Yin K; Lin W; Guo J; Sugiyama T; Snead ML; Hacia JG; Paine ML
    Sci Rep; 2017 Mar; 7():44118. PubMed ID: 28287144
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
    Godron A; Harambat J; Boccio V; Mensire A; May A; Rigothier C; Couzi L; Barrou B; Godin M; Chauveau D; Faguer S; Vallet M; Cochat P; Eckart P; Guest G; Guigonis V; Houillier P; Blanchard A; Jeunemaitre X; Vargas-Poussou R
    Clin J Am Soc Nephrol; 2012 May; 7(5):801-9. PubMed ID: 22422540
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.