BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

121 related articles for article (PubMed ID: 32558164)

  • 1. Donskoy cats as a new model of oculocutaneous albinism with the identification of a splice-site variant in Hermansky-Pudlak Syndrome 5 gene.
    Mériot M; Hitte C; Rimbault M; Dufaure de Citres C; Gache V; Abitbol M
    Pigment Cell Melanoma Res; 2020 Nov; 33(6):814-825. PubMed ID: 32558164
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Sequence-Based Mapping and Genome Editing Reveal Mutations in Stickleback
    Hart JC; Miller CT
    G3 (Bethesda); 2017 Sep; 7(9):3123-3131. PubMed ID: 28739598
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron.
    Feng GH; Bailin T; Oh J; Spritz RA
    Hum Mol Genet; 1997 May; 6(5):793-7. PubMed ID: 9158155
    [TBL] [Abstract][Full Text] [Related]  

  • 4. OCA2 splice site variant in German Spitz dogs with oculocutaneous albinism.
    Caduff M; Bauer A; Jagannathan V; Leeb T
    PLoS One; 2017; 12(10):e0185944. PubMed ID: 28973042
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of a novel mutation in HPS6 in a patient with hemophilia B and oculocutaneous albinism.
    O'Brien KJ; Lozier J; Cullinane AR; Osorio B; Nghiem K; Speransky V; Zein WM; Mullikin JC; Neff AT; Simon KL; Malicdan MC; Gahl WA; Young LR; Gochuico BR
    Mol Genet Metab; 2016 Nov; 119(3):284-287. PubMed ID: 27641950
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Functional characterization of two novel splicing mutations in the OCA2 gene associated with oculocutaneous albinism type II.
    Rimoldi V; Straniero L; Asselta R; Mauri L; Manfredini E; Penco S; Gesu GP; Del Longo A; Piozzi E; Soldà G; Primignani P
    Gene; 2014 Mar; 537(1):79-84. PubMed ID: 24361966
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites.
    Straniero L; Rimoldi V; Soldà G; Mauri L; Manfredini E; Andreucci E; Bargiacchi S; Penco S; Gesu GP; Del Longo A; Piozzi E; Asselta R; Primignani P
    J Hum Genet; 2015 Sep; 60(9):467-71. PubMed ID: 26016411
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Golden cats: A never-ending story!
    Abitbol M; Dargar T; Gache V
    Anim Genet; 2022 Oct; 53(5):715-718. PubMed ID: 35703390
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
    Gautam R; Chintala S; Li W; Zhang Q; Tan J; Novak EK; Di Pietro SM; Dell'Angelica EC; Swank RT
    J Biol Chem; 2004 Mar; 279(13):12935-42. PubMed ID: 14718540
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.
    Han CG; O'Brien KJ; Coon LM; Majerus JA; Huryn LA; Haroutunian SG; Moka N; Introne WJ; Macnamara E; Gahl WA; Malicdan MCV; Chen D; Krishnan K; Gochuico BR
    Am J Med Genet A; 2018 Dec; 176(12):2819-2823. PubMed ID: 30369044
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Hermansky-Pudlak syndrome (HPS5) in a nonagenarian.
    Ringeisen AL; Schimmenti LA; White JG; Schoonveld C; Summers CG
    J AAPOS; 2013 Jun; 17(3):334-6. PubMed ID: 23607980
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.
    Stephen J; Yokoyama T; Tolman NJ; O'Brien KJ; Nicoli ER; Brooks BP; Huryn L; Titus SA; Adams DR; Chen D; Gahl WA; Gochuico BR; Malicdan MC
    PLoS One; 2017; 12(3):e0173682. PubMed ID: 28296950
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising.
    Power B; Ferreira CR; Chen D; Zein WM; O'Brien KJ; Introne WJ; Stephen J; Gahl WA; Huizing M; Malicdan MCV; Adams DR; Gochuico BR
    Orphanet J Rare Dis; 2019 Feb; 14(1):52. PubMed ID: 30791930
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A nonsense nucleotide substitution in the oculocutaneous albinism II gene underlies the original pink-eyed dilution allele (Oca2(p)) in mice.
    Shoji H; Kiniwa Y; Okuyama R; Yang M; Higuchi K; Mori M
    Exp Anim; 2015; 64(2):171-9. PubMed ID: 25736709
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristics.
    Schreyer-Shafir N; Huizing M; Anikster Y; Nusinker Z; Bejarano-Achache I; Maftzir G; Resnik L; Helip-Wooley A; Westbroek W; Gradstein L; Rosenmann A; Blumenfeld A
    Hum Mutat; 2006 Nov; 27(11):1158. PubMed ID: 17041891
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.
    Lyons LA; Creighton EK; Alhaddad H; Beale HC; Grahn RA; Rah H; Maggs DJ; Helps CR; Gandolfi B
    BMC Genomics; 2016 Mar; 17():265. PubMed ID: 27030474
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Siberian cats help in solving part of the mystery surrounding golden cats.
    Beauvois H; Dufaure de Citres C; Gache V; Abitbol M
    Anim Genet; 2021 Aug; 52(4):482-491. PubMed ID: 33970502
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.
    Ishaq M; Niazi MK; Khan MS; Nadeem Y
    J Coll Physicians Surg Pak; 2015 Apr; 25 Suppl 1():S43-4. PubMed ID: 25933462
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity.
    Oh J; Ho L; Ala-Mello S; Amato D; Armstrong L; Bellucci S; Carakushansky G; Ellis JP; Fong CT; Green JS; Heon E; Legius E; Levin AV; Nieuwenhuis HK; Pinckers A; Tamura N; Whiteford ML; Yamasaki H; Spritz RA
    Am J Hum Genet; 1998 Mar; 62(3):593-8. PubMed ID: 9497254
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
    Anikster Y; Huizing M; White J; Shevchenko YO; Fitzpatrick DL; Touchman JW; Compton JG; Bale SJ; Swank RT; Gahl WA; Toro JR
    Nat Genet; 2001 Aug; 28(4):376-80. PubMed ID: 11455388
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.