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 *

106 related articles for article (PubMed ID: 20832469)

  • 1. Pathogenic effects of a novel mutation (c.664_681del) in KCNQ4 channels associated with auditory pathology.
    Baek JI; Park HJ; Park K; Choi SJ; Lee KY; Yi JH; Friedman TB; Drayna D; Shin KS; Kim UK
    Biochim Biophys Acta; 2011 Apr; 1812(4):536-43. PubMed ID: 20832469
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel pore-region mutation, c.887G > A (p.G296D) in KCNQ4, causing hearing loss in a Chinese family with autosomal dominant non-syndromic deafness 2.
    Huang B; Liu Y; Gao X; Xu J; Dai P; Zhu Q; Yuan Y
    BMC Med Genet; 2017 Mar; 18(1):36. PubMed ID: 28340560
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Targeted high-throughput sequencing identifies pathogenic mutations in KCNQ4 in two large Chinese families with autosomal dominant hearing loss.
    Wang H; Zhao Y; Yi Y; Gao Y; Liu Q; Wang D; Li Q; Lan L; Li N; Guan J; Yin Z; Han B; Zhao F; Zong L; Xiong W; Yu L; Song L; Yi X; Yang L; Petit C; Wang Q
    PLoS One; 2014; 9(8):e103133. PubMed ID: 25116015
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel frameshift mutation in KCNQ4 in a family with autosomal recessive non-syndromic hearing loss.
    Wasano K; Mutai H; Obuchi C; Masuda S; Matsunaga T
    Biochem Biophys Res Commun; 2015 Aug; 463(4):582-6. PubMed ID: 26036578
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Impaired surface expression and conductance of the KCNQ4 channel lead to sensorineural hearing loss.
    Gao Y; Yechikov S; Vázquez AE; Chen D; Nie L
    J Cell Mol Med; 2013 Jul; 17(7):889-900. PubMed ID: 23750663
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Autosomal dominant progressive sensorineural hearing loss due to a novel mutation in the KCNQ4 gene.
    Arnett J; Emery SB; Kim TB; Boerst AK; Lee K; Leal SM; Lesperance MM
    Arch Otolaryngol Head Neck Surg; 2011 Jan; 137(1):54-9. PubMed ID: 21242547
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel
    Li Q; Liang P; Wang S; Li W; Wang J; Yang Y; An X; Chen J; Zha D
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33846771
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Novel mutation in the KCNQ4 gene in a large kindred with dominant progressive hearing loss.
    Talebizadeh Z; Kelley PM; Askew JW; Beisel KW; Smith SD
    Hum Mutat; 1999; 14(6):493-501. PubMed ID: 10571947
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the KCNQ4 gene are responsible for autosomal dominant deafness in four DFNA2 families.
    Coucke PJ; Van Hauwe P; Kelley PM; Kunst H; Schatteman I; Van Velzen D; Meyers J; Ensink RJ; Verstreken M; Declau F; Marres H; Kastury K; Bhasin S; McGuirt WT; Smith RJ; Cremers CW; Van de Heyning P; Willems PJ; Smith SD; Van Camp G
    Hum Mol Genet; 1999 Jul; 8(7):1321-8. PubMed ID: 10369879
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Mutations in the KCNQ4 K+ channel gene, responsible for autosomal dominant hearing loss, cluster in the channel pore region.
    Van Hauwe P; Coucke PJ; Ensink RJ; Huygen P; Cremers CW; Van Camp G
    Am J Med Genet; 2000 Jul; 93(3):184-7. PubMed ID: 10925378
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel KCNQ4 one-base deletion in a large pedigree with hearing loss: implication for the genotype-phenotype correlation.
    Kamada F; Kure S; Kudo T; Suzuki Y; Oshima T; Ichinohe A; Kojima K; Niihori T; Kanno J; Narumi Y; Narisawa A; Kato K; Aoki Y; Ikeda K; Kobayashi T; Matsubara Y
    J Hum Genet; 2006; 51(5):455-460. PubMed ID: 16596322
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A mutational hot spot in the KCNQ4 gene responsible for autosomal dominant hearing impairment.
    Van Camp G; Coucke PJ; Akita J; Fransen E; Abe S; De Leenheer EM; Huygen PL; Cremers CW; Usami S
    Hum Mutat; 2002 Jul; 20(1):15-9. PubMed ID: 12112653
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Audioprofile-directed screening identifies novel mutations in KCNQ4 causing hearing loss at the DFNA2 locus.
    Hildebrand MS; Tack D; McMordie SJ; DeLuca A; Hur IA; Nishimura C; Huygen P; Casavant TL; Smith RJ
    Genet Med; 2008 Nov; 10(11):797-804. PubMed ID: 18941426
    [TBL] [Abstract][Full Text] [Related]  

  • 14. [KCNQ4 gene mutations affected a pedigree with autosomal dominant hereditary hearing loss].
    Wang Q; Cao J; Li N; Yang Y; Wang Q; Yu L; Han D; Yang W
    Zhonghua Er Bi Yan Hou Ke Za Zhi; 2002 Oct; 37(5):343-7. PubMed ID: 12772453
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) family.
    de Heer AM; Schraders M; Oostrik J; Hoefsloot L; Huygen PL; Cremers CW
    Ann Otol Rhinol Laryngol; 2011 Apr; 120(4):243-8. PubMed ID: 21585154
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Moderate hearing loss associated with a novel KCNQ4 non-truncating mutation located near the N-terminus of the pore helix.
    Watabe T; Matsunaga T; Namba K; Mutai H; Inoue Y; Ogawa K
    Biochem Biophys Res Commun; 2013 Mar; 432(3):475-9. PubMed ID: 23399560
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activators.
    Shin DH; Jung J; Koh YI; Rim JH; Lee JS; Choi HJ; Joo SY; Yu S; Cha DH; Lee SY; Lee JH; Lee MG; Choi JY; Gee HY
    Hum Mutat; 2019 Mar; 40(3):335-346. PubMed ID: 30556268
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss.
    Jung J; Choi HB; Koh YI; Rim JH; Choi HJ; Kim SH; Lee JH; An J; Kim A; Lee JS; Joo SY; Yu S; Choi JY; Kang TM; Gee HY
    Sci Rep; 2018 Nov; 8(1):16659. PubMed ID: 30413759
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Valproic Acid Inhibits Progressive Hereditary Hearing Loss in a KCNQ4 Variant Model through HDAC1 Suppression.
    Nam YS; Choi YM; Lee S; Cho HH
    Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982769
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Mapping of gene underlying autosomal dominant non-syndromic hearing loss(DFNA)].
    Sun HJ; Tao R; Cheng J; Yang SZ; Cao JY; Yu LM; Hong MD; Feng GY; Dai P; Yuan HJ; Han DY; He L
    Yi Chuan; 2006 Dec; 28(12):1489-94. PubMed ID: 17138532
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.