BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

131 related articles for article (PubMed ID: 30497409)

  • 1. A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree.
    Rahmani B; Fekrmandi F; Ahadi K; Ahadi T; Alavi A; Ahmadiani A; Asadi S
    BMC Neurol; 2018 Nov; 18(1):195. PubMed ID: 30497409
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Expression pattern analysis and characterization of the hereditary sensory and autonomic neuropathy 2 A (HSAN2A) gene with no lysine kinase (WNK1) in human dorsal root ganglion.
    Sapio MR; King DM; Staedtler ES; Maric D; Jahanipour J; Kurochkina NA; Manalo AP; Ghetti A; Mannes AJ; Iadarola MJ
    Exp Neurol; 2023 Dec; 370():114552. PubMed ID: 37793538
    [TBL] [Abstract][Full Text] [Related]  

  • 3. WNK1/HSN2 founder mutation in patients with hereditary sensory and autonomic neuropathy: A Japanese cohort study.
    Yuan JH; Hashiguchi A; Yoshimura A; Sakai N; Takahashi MP; Ueda T; Taniguchi A; Okamoto S; Kanazawa N; Yamamoto Y; Saigoh K; Kusunoki S; Ando M; Hiramatsu Y; Okamoto Y; Takashima H
    Clin Genet; 2017 Dec; 92(6):659-663. PubMed ID: 28422281
    [TBL] [Abstract][Full Text] [Related]  

  • 4. The coexistence of a novel WNK1 variant and a copy number variation causes hereditary sensory and autonomic neuropathy type IIA.
    Wang JJ; Yu B; Li Z
    BMC Med Genet; 2019 May; 20(1):91. PubMed ID: 31132985
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A novel homozygous mutation in the WNK1/HSN2 gene causing hereditary sensory neuropathy type 2.
    Potulska-Chromik A; Kabzińska D; Lipowska M; Kostera-Pruszczyk A; Kochański A
    Acta Biochim Pol; 2012; 59(3):413-5. PubMed ID: 22910560
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Arthropathy-related pain in a patient with congenital impairment of pain sensation due to hereditary sensory and autonomic neuropathy type II with a rare mutation in the WNK1/HSN2 gene: a case report.
    Yamada K; Yuan J; Mano T; Takashima H; Shibata M
    BMC Neurol; 2016 Oct; 16(1):201. PubMed ID: 27765018
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians.
    Roddier K; Thomas T; Marleau G; Gagnon AM; Dicaire MJ; St-Denis A; Gosselin I; Sarrazin AM; Larbrisseau A; Lambert M; Vanasse M; Gaudet D; Rouleau GA; Brais B
    Neurology; 2005 May; 64(10):1762-7. PubMed ID: 15911806
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel mutation in the HSN2 gene in a Korean patient with hereditary sensory and autonomic neuropathy type 2.
    Cho HJ; Kim BJ; Suh YL; An JY; Ki CS
    J Hum Genet; 2006; 51(10):905-908. PubMed ID: 16946995
    [TBL] [Abstract][Full Text] [Related]  

  • 9. WNK1/HSN2 mutation in human peripheral neuropathy deregulates KCC2 expression and posterior lateral line development in zebrafish (Danio rerio).
    Bercier V; Brustein E; Liao M; Dion PA; Lafrenière RG; Rouleau GA; Drapeau P
    PLoS Genet; 2013; 9(1):e1003124. PubMed ID: 23300475
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.
    Loggia ML; Bushnell MC; Tétreault M; Thiffault I; Bhérer C; Mohammed NK; Kuchinad AA; Laferrière A; Dicaire MJ; Loisel L; Mogil JS; Brais B
    J Neurosci; 2009 Feb; 29(7):2162-6. PubMed ID: 19228968
    [TBL] [Abstract][Full Text] [Related]  

  • 11. New HSN2 mutation in Japanese patient with hereditary sensory and autonomic neuropathy type 2.
    Takagi M; Ozawa T; Hara K; Naruse S; Ishihara T; Shimbo J; Igarashi S; Tanaka K; Onodera O; Nishizawa M
    Neurology; 2006 Apr; 66(8):1251-2. PubMed ID: 16636245
    [TBL] [Abstract][Full Text] [Related]  

  • 12. KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2.
    Rivière JB; Ramalingam S; Lavastre V; Shekarabi M; Holbert S; Lafontaine J; Srour M; Merner N; Rochefort D; Hince P; Gaudet R; Mes-Masson AM; Baets J; Houlden H; Brais B; Nicholson GA; Van Esch H; Nafissi S; De Jonghe P; Reilly MM; Timmerman V; Dion PA; Rouleau GA
    Am J Hum Genet; 2011 Aug; 89(2):219-30. PubMed ID: 21820098
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
    Shekarabi M; Girard N; Rivière JB; Dion P; Houle M; Toulouse A; Lafrenière RG; Vercauteren F; Hince P; Laganiere J; Rochefort D; Faivre L; Samuels M; Rouleau GA
    J Clin Invest; 2008 Jul; 118(7):2496-505. PubMed ID: 18521183
    [TBL] [Abstract][Full Text] [Related]  

  • 14. WNK1/HSN2 mediates neurite outgrowth and differentiation via a OSR1/GSK3β-LHX8 pathway.
    Shimizu M; Shibuya H
    Sci Rep; 2022 Sep; 12(1):15858. PubMed ID: 36151370
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel biallelic single base insertion in WNK1 in a Pakistani family with congenital insensitivity to pain.
    Pastore S; Harripaul R; Azam M; Vincent JB
    J Hum Genet; 2020 May; 65(5):493-496. PubMed ID: 32127623
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
    Rotthier A; Baets J; De Vriendt E; Jacobs A; Auer-Grumbach M; Lévy N; Bonello-Palot N; Kilic SS; Weis J; Nascimento A; Swinkels M; Kruyt MC; Jordanova A; De Jonghe P; Timmerman V
    Brain; 2009 Oct; 132(Pt 10):2699-711. PubMed ID: 19651702
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families.
    Pacheco-Cuellar G; González-Huerta LM; Valdés-Miranda JM; Peláez-González H; Zenteno-Bacheron S; Cazarin-Barrientos J; Cuevas-Covarrubias SA
    J Neurol; 2011 Oct; 258(10):1890-2. PubMed ID: 21625937
    [No Abstract]   [Full Text] [Related]  

  • 18. Polyneuropathy in a young Belgian patient: A novel heterozygous mutation in the WNK1/HSN2 gene.
    de Filette J; Hasaerts D; Seneca S; Gheldof A; Stouffs K; Keymolen K; Velkeniers B
    Neurol Genet; 2016 Feb; 2(1):e42. PubMed ID: 27066579
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Novel mutations in the HSN2 gene causing hereditary sensory and autonomic neuropathy type II.
    Coen K; Pareyson D; Auer-Grumbach M; Buyse G; Goemans N; Claeys KG; Verpoorten N; Laurà M; Scaioli V; Salmhofer W; Pieber TR; Nelis E; De Jonghe P; Timmerman V
    Neurology; 2006 Mar; 66(5):748-51. PubMed ID: 16534117
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Comparative analysis of the expression profile of Wnk1 and Wnk1/Hsn2 splice variants in developing and adult mouse tissues.
    Shekarabi M; Lafrenière RG; Gaudet R; Laganière J; Marcinkiewicz MM; Dion PA; Rouleau GA
    PLoS One; 2013; 8(2):e57807. PubMed ID: 23451271
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.