BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

297 related articles for article (PubMed ID: 21965087)

  • 1. Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II.
    Zhang H; Chen H; Luo H; An J; Sun L; Mei L; He C; Jiang L; Jiang W; Xia K; Li JD; Feng Y
    Hum Genet; 2012 Mar; 131(3):491-503. PubMed ID: 21965087
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome.
    Bondurand N; Pingault V; Goerich DE; Lemort N; Sock E; Le Caignec C; Wegner M; Goossens M
    Hum Mol Genet; 2000 Aug; 9(13):1907-17. PubMed ID: 10942418
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type I or type II Waardenburg syndrome.
    Chen H; Jiang L; Xie Z; Mei L; He C; Hu Z; Xia K; Feng Y
    Biochem Biophys Res Commun; 2010 Jun; 397(1):70-4. PubMed ID: 20478267
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II.
    Wang XP; Hao ZQ; Liu YL; Mei LY; He CF; Niu ZJ; Sun J; Zhao YL; Feng Y
    Biochem Biophys Res Commun; 2017 Nov; 493(1):258-262. PubMed ID: 28893539
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
    Verastegui C; Bille K; Ortonne JP; Ballotti R
    J Biol Chem; 2000 Oct; 275(40):30757-60. PubMed ID: 10938265
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The clinical and genetic research of Waardenburg syndrome type I and II in Chinese families.
    Liu Q; Cheng J; Lu Y; Zhou J; Wang L; Yang C; Yang G; Yang H; Cao J; Zhang Z; Sun Y
    Int J Pediatr Otorhinolaryngol; 2020 Mar; 130():109806. PubMed ID: 31812001
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3.
    Watanabe A; Takeda K; Ploplis B; Tachibana M
    Nat Genet; 1998 Mar; 18(3):283-6. PubMed ID: 9500554
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Two novel mutations of PAX3 and SOX10 were characterized as genetic causes of Waardenburg Syndrome.
    Yu Y; Liu W; Chen M; Yang Y; Yang Y; Hong E; Lu J; Zheng J; Ni X; Guo Y; Zhang J
    Mol Genet Genomic Med; 2020 May; 8(5):e1217. PubMed ID: 32168437
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The value of MLPA in Waardenburg syndrome.
    Milunsky JM; Maher TA; Ito M; Milunsky A
    Genet Test; 2007; 11(2):179-82. PubMed ID: 17627390
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.
    Wenzhi H; Ruijin W; Jieliang L; Xiaoyan M; Haibo L; Xiaoman W; Jiajia X; Shaoying L; Shuanglin L; Qing L
    Int J Pediatr Otorhinolaryngol; 2015 Oct; 79(10):1718-21. PubMed ID: 26296878
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4.
    Bondurand N; Dastot-Le Moal F; Stanchina L; Collot N; Baral V; Marlin S; Attie-Bitach T; Giurgea I; Skopinski L; Reardon W; Toutain A; Sarda P; Echaieb A; Lackmy-Port-Lis M; Touraine R; Amiel J; Goossens M; Pingault V
    Am J Hum Genet; 2007 Dec; 81(6):1169-85. PubMed ID: 17999358
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3.
    Potterf SB; Furumura M; Dunn KJ; Arnheiter H; Pavan WJ
    Hum Genet; 2000 Jul; 107(1):1-6. PubMed ID: 10982026
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Molecular etiology and genotype-phenotype correlation of Chinese Han deaf patients with type I and type II Waardenburg Syndrome.
    Sun L; Li X; Shi J; Pang X; Hu Y; Wang X; Wu H; Yang T
    Sci Rep; 2016 Oct; 6():35498. PubMed ID: 27759048
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Double heterozygous mutations of MITF and PAX3 result in Waardenburg syndrome with increased penetrance in pigmentary defects.
    Yang T; Li X; Huang Q; Li L; Chai Y; Sun L; Wang X; Zhu Y; Wang Z; Huang Z; Li Y; Wu H
    Clin Genet; 2013 Jan; 83(1):78-82. PubMed ID: 22320238
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.
    Zardadi S; Rayat S; Doabsari MH; Alishiri A; Keramatipour M; Shahri ZJ; Morovvati S
    BMC Pediatr; 2021 Feb; 21(1):70. PubMed ID: 33557787
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Molecular and clinical characterization of Waardenburg syndrome type I in an Iranian cohort with two novel PAX3 mutations.
    Jalilian N; Tabatabaiefar MA; Farhadi M; Bahrami T; Emamdjomeh H; Noori-Daloii MR
    Gene; 2015 Dec; 574(2):302-7. PubMed ID: 26275939
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mouse models for four types of Waardenburg syndrome.
    Tachibana M; Kobayashi Y; Matsushima Y
    Pigment Cell Res; 2003 Oct; 16(5):448-54. PubMed ID: 12950719
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Hereditary hypomelanocytoses: the role of PAX3, SOX10, MITF, SNAI2, KIT, EDN3 and EDNRB genes].
    Otręba M; Miliński M; Buszman E; Wrześniok D; Beberok A
    Postepy Hig Med Dosw (Online); 2013 Nov; 67():1109-18. PubMed ID: 24379252
    [TBL] [Abstract][Full Text] [Related]  

  • 19. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis.
    Jalilian N; Tabatabaiefar MA; Alimadadi H; Noori-Daloii MR
    Int J Pediatr Otorhinolaryngol; 2017 May; 96():122-126. PubMed ID: 28390600
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Identification and functional analysis of a novel missense mutation of PAX3 associated with Waardenburg syndrome type I.
    Niu Z; Mei L; Tang F; Li J; Wang X; Sun J; He C; Cheng H; Liu Y; Cai X; Song J; Feng Y; Jiang L
    Eur Arch Otorhinolaryngol; 2021 Aug; 278(8):2807-2815. PubMed ID: 32940795
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 15.