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 *

281 related articles for article (PubMed ID: 25804398)

  • 21. Novel mutations in the homogentisate 1,2 dioxygenase gene identified in Jordanian patients with alkaptonuria.
    Al-sbou M
    Rheumatol Int; 2012 Jun; 32(6):1741-6. PubMed ID: 21437689
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).
    Beltrán-Valero de Bernabé D; Jimenez FJ; Aquaron R; Rodríguez de Córdoba S
    Am J Hum Genet; 1999 May; 64(5):1316-22. PubMed ID: 10205262
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Allelic heterogeneity of alkaptonuria in Central Europe.
    Müller CR; Fregin A; Srsen S; Srsnova K; Halliger-Keller B; Felbor U; Seemanova E; Kress W
    Eur J Hum Genet; 1999 Sep; 7(6):645-51. PubMed ID: 10482952
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Toward a generalized computational workflow for exploiting transient pockets as new targets for small molecule stabilizers: Application to the homogentisate 1,2-dioxygenase mutants at the base of rare disease Alkaptonuria.
    Bernini A; Galderisi S; Spiga O; Bernardini G; Niccolai N; Manetti F; Santucci A
    Comput Biol Chem; 2017 Oct; 70():133-141. PubMed ID: 28869836
    [TBL] [Abstract][Full Text] [Related]  

  • 25. High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
    Zatková A; de Bernabé DB; Poláková H; Zvarík M; Feráková E; Bosák V; Ferák V; Kádasi L; de Córdoba SR
    Am J Hum Genet; 2000 Nov; 67(5):1333-9. PubMed ID: 11017803
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Alkaptonuria in Russia.
    Soltysova A; Kuzin A; Samarkina E; Zatkova A
    Eur J Hum Genet; 2022 Feb; 30(2):237-242. PubMed ID: 34504318
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular defects in alkaptonuria.
    Gehrig A; Schmidt SR; Müller CR; Srsen S; Srsnova K; Kress W
    Cytogenet Cell Genet; 1997; 76(1-2):14-6. PubMed ID: 9154114
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Transient pockets as mediators of gas molecules routes inside proteins: The case study of dioxygen pathway in homogentisate 1,2-dioxygenase and its implication in Alkaptonuria development.
    Bernini A; Galderisi S; Spiga O; Amarabom CO; Santucci A
    Comput Biol Chem; 2020 Oct; 88():107356. PubMed ID: 32823072
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Alkaptonuria in Russia: mutational spectrum and novel variants.
    Bychkov I; Kamenets E; Kurkina M; Rychkov G; Ilyushkina A; Filatova A; Guseva D; Baydakova G; Nekrasov A; Cheblokov A; Skoblov M; Zakharova E
    Eur J Med Genet; 2021 Apr; 64(4):104165. PubMed ID: 33621656
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Screening and molecular characterization of lethal mutations of human homogentisate 1, 2 dioxigenase.
    Sen Gupta PS; Islam RNU; Banerjee S; Nayek A; Rana MK; Bandyopadhyay AK
    J Biomol Struct Dyn; 2021 Mar; 39(5):1661-1671. PubMed ID: 32107984
    [TBL] [Abstract][Full Text] [Related]  

  • 31. A robust bacterial high-throughput screening system to evaluate single nucleotide polymorphisms of human homogentisate 1,2-dioxygenase in the context of alkaptonuria.
    Lequeue S; Neuckermans J; Nulmans I; Schwaneberg U; Vanhaecke T; De Kock J
    Sci Rep; 2022 Nov; 12(1):19452. PubMed ID: 36376482
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Structural and functional analysis of mutations in alkaptonuria.
    Rodríguez JM; Timm DE; Titus GP; Beltrán-Valero De Bernabé D; Criado O; Mueller HA; Rodríguez De Córdoba S; Peñalva MA
    Hum Mol Genet; 2000 Sep; 9(15):2341-50. PubMed ID: 11001939
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Alkaptonuria in Italy: polymorphic haplotype background, mutational profile, and description of four novel mutations in the homogentisate 1,2-dioxygenase gene.
    Porfirio B; Chiarelli I; Graziano C; Mannoni A; Morrone A; Zammarchi E; De Bernabé DB; De Córdoba SR
    J Med Genet; 2000 Apr; 37(4):309-12. PubMed ID: 10819641
    [No Abstract]   [Full Text] [Related]  

  • 34. Clinical presentation of 13 children with alkaptonuria.
    Kujawa MJ; Świętoń D; Wierzba J; Grzywińska M; Budziło O; Limanówka M; Pierzynowska K; Gaffke L; Grabowski Ł; Cyske Z; Rintz E; Rąbalski Ł; Kosiński M; Węgrzyn G; Mański A; Anikiej-Wiczenbach P; Ranganath L; Piskunowicz M
    J Inherit Metab Dis; 2023 Sep; 46(5):916-930. PubMed ID: 37395296
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from central Asia and was spread throughout Europe and Anatolia by human migrations.
    Uyguner O; Goicoechea de Jorge E; Cefle A; Baykal T; Kayserili H; Cefle K; Demirkol M; Yuksel-Apak M; Rodriguez de Córdoba S; Wollnik B
    J Inherit Metab Dis; 2003; 26(1):17-23. PubMed ID: 12872836
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Identification of the mutation in the alkaptonuria mouse model. Mutations in brief no. 216. Online.
    Manning K; Fernández-Cañón JM; Montagutelli X; Grompe M
    Hum Mutat; 1999; 13(2):171. PubMed ID: 10094559
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Crystal structure of human homogentisate dioxygenase.
    Titus GP; Mueller HA; Burgner J; Rodríguez De Córdoba S; Peñalva MA; Timm DE
    Nat Struct Biol; 2000 Jul; 7(7):542-6. PubMed ID: 10876237
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Structure-Function Relationship of Homogentisate 1,2-dioxygenase: Understanding the Genotype-Phenotype Correlations in the Rare Genetic Disease Alkaptonuria.
    Bernini A; Spiga O; Santucci A
    Curr Protein Pept Sci; 2023; 24(5):380-392. PubMed ID: 36880186
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Machine learning application for patient stratification and phenotype/genotype investigation in a rare disease.
    Spiga O; Cicaloni V; Dimitri GM; Pettini F; Braconi D; Bernini A; Santucci A
    Brief Bioinform; 2021 Sep; 22(5):. PubMed ID: 33538294
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Conditional targeting in mice reveals that hepatic homogentisate 1,2-dioxygenase activity is essential in reducing circulating homogentisic acid and for effective therapy in the genetic disease alkaptonuria.
    Hughes JH; Liu K; Plagge A; Wilson PJM; Sutherland H; Norman BP; Hughes AT; Keenan CM; Milan AM; Sakai T; Ranganath LR; Gallagher JA; Bou-Gharios G
    Hum Mol Genet; 2019 Dec; 28(23):3928-3939. PubMed ID: 31600782
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 15.