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 *

130 related articles for article (PubMed ID: 27157321)

  • 1. Development and Validation of a Mass Spectrometry-Based Assay for the Molecular Diagnosis of Mucin-1 Kidney Disease.
    Blumenstiel B; DeFelice M; Birsoy O; Bleyer AJ; Kmoch S; Carter TA; Gnirke A; Kidd K; Rehm HL; Ronco L; Lander ES; Gabriel S; Lennon NJ
    J Mol Diagn; 2016 Jul; 18(4):566-71. PubMed ID: 27157321
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation.
    Yu SM; Bleyer AJ; Anis K; Herlitz L; Živná M; Hůlková H; Markowitz GS; Jim B
    Am J Kidney Dis; 2018 Apr; 71(4):495-500. PubMed ID: 29217307
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Testing for the cytosine insertion in the VNTR of the MUC1 gene in a cohort of Italian patients with autosomal dominant tubulointerstitial kidney disease.
    Musetti C; Babu D; Fusco I; Mellone S; Zonta A; Quaglia M; Cantaluppi V; Stratta P; Giordano M
    J Nephrol; 2016 Jun; 29(3):451-455. PubMed ID: 26943180
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genetic Testing of the mucin 1 gene-Variable Number Tandem Repeat Single Cytosine Insertion Mutation in a Chinese Family with Medullary Cystic Kidney Disease.
    Si N; Zheng K; Ma J; Meng XL; Li XM; Zhang X
    Chin Med J (Engl); 2017 Oct; 130(20):2459-2464. PubMed ID: 29052568
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Biallelic Expression of Mucin-1 in Autosomal Dominant Tubulointerstitial Kidney Disease: Implications for Nongenetic Disease Recognition.
    Knaup KX; Hackenbeck T; Popp B; Stoeckert J; Wenzel A; Büttner-Herold M; Pfister F; Schueler M; Seven D; May AM; Halbritter J; Gröne HJ; Reis A; Beck BB; Amann K; Ekici AB; Wiesener MS
    J Am Soc Nephrol; 2018 Sep; 29(9):2298-2309. PubMed ID: 30049680
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Analysis of an ADTKD family with a novel frameshift mutation in MUC1 reveals characteristic features of mutant MUC1 protein.
    Yamamoto S; Kaimori JY; Yoshimura T; Namba T; Imai A; Kobayashi K; Imamura R; Ichimaru N; Kato K; Nakaya A; Takahara S; Isaka Y
    Nephrol Dial Transplant; 2017 Dec; 32(12):2010-2017. PubMed ID: 29156055
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Variable clinical presentation of an MUC1 mutation causing medullary cystic kidney disease type 1.
    Bleyer AJ; Kmoch S; Antignac C; Robins V; Kidd K; Kelsoe JR; Hladik G; Klemmer P; Knohl SJ; Scheinman SJ; Vo N; Santi A; Harris A; Canaday O; Weller N; Hulick PJ; Vogel K; Rahbari-Oskoui FF; Tuazon J; Deltas C; Somers D; Megarbane A; Kimmel PL; Sperati CJ; Orr-Urtreger A; Ben-Shachar S; Waugh DA; McGinn S; Bleyer AJ; Hodanová K; Vylet'al P; Živná M; Hart TC; Hart PS
    Clin J Am Soc Nephrol; 2014 Mar; 9(3):527-35. PubMed ID: 24509297
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Noninvasive Immunohistochemical Diagnosis and Novel
    Živná M; Kidd K; Přistoupilová A; Barešová V; DeFelice M; Blumenstiel B; Harden M; Conlon P; Lavin P; Connaughton DM; Hartmannová H; Hodaňová K; Stránecký V; Vrbacká A; Vyleťal P; Živný J; Votruba M; Sovová J; Hůlková H; Robins V; Perry R; Wenzel A; Beck BB; Seeman T; Viklický O; Rajnochová-Bloudíčková S; Papagregoriou G; Deltas CC; Alper SL; Greka A; Bleyer AJ; Kmoch S
    J Am Soc Nephrol; 2018 Sep; 29(9):2418-2431. PubMed ID: 29967284
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Autosomal Tubulointerstitial Kidney Disease-MUC1 Type: Differential Proteomics Suggests that Mutated MUC1 (insC) Affects Vesicular Transport in Renal Epithelial Cells.
    Staubach S; Wenzel A; Beck BB; Rinschen MM; Müller S; Hanisch FG
    Proteomics; 2018 Apr; 18(7):e1700456. PubMed ID: 29436780
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing.
    Kirby A; Gnirke A; Jaffe DB; Barešová V; Pochet N; Blumenstiel B; Ye C; Aird D; Stevens C; Robinson JT; Cabili MN; Gat-Viks I; Kelliher E; Daza R; DeFelice M; Hůlková H; Sovová J; Vylet'al P; Antignac C; Guttman M; Handsaker RE; Perrin D; Steelman S; Sigurdsson S; Scheinman SJ; Sougnez C; Cibulskis K; Parkin M; Green T; Rossin E; Zody MC; Xavier RJ; Pollak MR; Alper SL; Lindblad-Toh K; Gabriel S; Hart PS; Regev A; Nusbaum C; Kmoch S; Bleyer AJ; Lander ES; Daly MJ
    Nat Genet; 2013 Mar; 45(3):299-303. PubMed ID: 23396133
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Single molecule real time sequencing in ADTKD-MUC1 allows complete assembly of the VNTR and exact positioning of causative mutations.
    Wenzel A; Altmueller J; Ekici AB; Popp B; Stueber K; Thiele H; Pannes A; Staubach S; Salido E; Nuernberg P; Reinhardt R; Reis A; Rump P; Hanisch FG; Wolf MTF; Wiesener M; Huettel B; Beck BB
    Sci Rep; 2018 Mar; 8(1):4170. PubMed ID: 29520014
    [TBL] [Abstract][Full Text] [Related]  

  • 12. SMRT sequencing revealed to be an effective method for ADTKD-MUC1 diagnosis through follow-up analysis of a Chinese family.
    Wang GQ; Rui HL; Dong HR; Sun LJ; Yang M; Wang YY; Ye N; Zhao ZR; Liu XJ; Xu XY; Chen YP; Cheng H
    Sci Rep; 2020 May; 10(1):8616. PubMed ID: 32451462
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Autosomal dominant tubulointerstitial kidney disease: a new tool to guide genetic testing.
    LaFavers KA; El-Achkar TM
    Kidney Int; 2020 Sep; 98(3):549-552. PubMed ID: 32828237
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Diagnostic approach in autosomal dominant polycystic kidney disease.
    Pei Y
    Clin J Am Soc Nephrol; 2006 Sep; 1(5):1108-14. PubMed ID: 17699332
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel roles for mucin 1 in the kidney.
    Al-Bataineh MM; Sutton TA; Hughey RP
    Curr Opin Nephrol Hypertens; 2017 Sep; 26(5):384-391. PubMed ID: 28622163
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Medullary cystic kidney disease type 1 in a large Native-American kindred.
    Kiser RL; Wolf MT; Martin JL; Zalewski I; Attanasio M; Hildebrandt F; Klemmer P
    Am J Kidney Dis; 2004 Oct; 44(4):611-7. PubMed ID: 15384011
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
    Ekici AB; Hackenbeck T; Morinière V; Pannes A; Buettner M; Uebe S; Janka R; Wiesener A; Hermann I; Grupp S; Hornberger M; Huber TB; Isbel N; Mangos G; McGinn S; Soreth-Rieke D; Beck BB; Uder M; Amann K; Antignac C; Reis A; Eckardt KU; Wiesener MS
    Kidney Int; 2014 Sep; 86(3):589-99. PubMed ID: 24670410
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Variable presentations of rare genetic renal interstitial diseases.
    Trachtman H
    Clin J Am Soc Nephrol; 2014 Mar; 9(3):437-9. PubMed ID: 24509295
    [No Abstract]   [Full Text] [Related]  

  • 19. Evaluating the clinical utility of a molecular genetic test for polycystic kidney disease.
    Garcia-Gonzalez MA; Jones JG; Allen SK; Palatucci CM; Batish SD; Seltzer WK; Lan Z; Allen E; Qian F; Lens XM; Pei Y; Germino GG; Watnick TJ
    Mol Genet Metab; 2007; 92(1-2):160-7. PubMed ID: 17574468
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Genetic analysis (PKD2) of autosomal dominant polycystic kidney disease].
    Gómez PF; Moro EC; García-Cosmes P; Sarmiento RG; Romo JM
    Nefrologia; 2009; 29(6):562-8. PubMed ID: 19936001
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.