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 *

185 related articles for article (PubMed ID: 16352477)

  • 1. Meesmann corneal dystrophy (MECD): report of 2 families and a novel mutation in the cornea specific keratin 12 (KRT12) gene.
    Nichini O; Manzi Vd; Munier FL; Schorderet DF
    Ophthalmic Genet; 2005 Dec; 26(4):169-73. PubMed ID: 16352477
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Identification of presumed pathogenic KRT3 and KRT12 gene mutations associated with Meesmann corneal dystrophy.
    Chen JL; Lin BR; Gee KM; Gee JA; Chung DW; Frausto RF; Deng SX; Aldave AJ
    Mol Vis; 2015; 21():1378-86. PubMed ID: 26788030
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in the helix termination motif of keratin 3 and keratin 12 in 2 Taiwanese families with Meesmann corneal dystrophy.
    Chen YT; Tseng SH; Chao SC
    Cornea; 2005 Nov; 24(8):928-32. PubMed ID: 16227835
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Autosomal-dominant Meesmann epithelial corneal dystrophy without an exon mutation in the keratin-3 or keratin-12 gene in a Chinese family.
    Cao W; Yan M; Hao Q; Wang S; Wu L; Liu Q; Li M; Biddle FG; Wu W
    J Int Med Res; 2013 Apr; 41(2):511-8. PubMed ID: 23569037
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation.
    Szaflik JP; Ołdak M; Maksym RB; Kamińska A; Pollak A; Udziela M; Płoski R; Szaflik J
    Mol Vis; 2008 Sep; 14():1713-8. PubMed ID: 18806880
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.
    Corden LD; Swensson O; Swensson B; Smith FJ; Rochels R; Uitto J; McLEAN WH
    Exp Eye Res; 2000 Jan; 70(1):41-9. PubMed ID: 10644419
    [TBL] [Abstract][Full Text] [Related]  

  • 7. KRT12 mutations and in vivo confocal microscopy in two Japanese families with Meesmann corneal dystrophy.
    Ogasawara M; Matsumoto Y; Hayashi T; Ohno K; Yamada H; Kawakita T; Dogru M; Shimazaki J; Tsubota K; Tsuneoka H
    Am J Ophthalmol; 2014 Jan; 157(1):93-102.e1. PubMed ID: 24099278
    [TBL] [Abstract][Full Text] [Related]  

  • 8. In vivo histology and p.L132V mutation in KRT12 gene in Japanese patients with Meesmann corneal dystrophy.
    Nishino T; Kobayashi A; Mori N; Masaki T; Yokogawa H; Fujiki K; Yanagawa A; Murakami A; Sugiyama K
    Jpn J Ophthalmol; 2019 Jan; 63(1):46-55. PubMed ID: 30535821
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
    Allen EH; Courtney DG; Atkinson SD; Moore JE; Mairs L; Poulsen ET; Schiroli D; Maurizi E; Cole C; Hickerson RP; James J; Murgatroyd H; Smith FJ; MacEwen C; Enghild JJ; Nesbit MA; Leslie Pedrioli DM; McLean WH; Moore CB
    Hum Mol Genet; 2016 Mar; 25(6):1176-91. PubMed ID: 26758872
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A novel mutation in KRT12 associated with Meesmann's epithelial corneal dystrophy.
    Irvine AD; Coleman CM; Moore JE; Swensson O; Morgan SJ; McCarthy JH; Smith FJ; Black GC; McLean WH
    Br J Ophthalmol; 2002 Jul; 86(7):729-32. PubMed ID: 12084738
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Mutations in the keratin gene as a cause of Meesman-Wilke corneal dystrophy and autosomal dominant skin cornification disorders].
    Swensson O; Swensson B; Nölle B; Rochels R; Wannke B; Thiel HJ
    Klin Monbl Augenheilkd; 2000 Jul; 217(1):43-51. PubMed ID: 10949816
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy.
    Coleman CM; Hannush S; Covello SP; Smith FJ; Uitto J; McLean WH
    Am J Ophthalmol; 1999 Dec; 128(6):687-91. PubMed ID: 10612503
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Identification of a novel mutation in the cornea specific keratin 12 gene causing Meesmann's corneal dystrophy in a German family.
    Clausen I; Duncker GI; Grünauer-Kloevekorn C
    Mol Vis; 2010 May; 16():954-60. PubMed ID: 20577595
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy.
    Irvine AD; Corden LD; Swensson O; Swensson B; Moore JE; Frazer DG; Smith FJ; Knowlton RG; Christophers E; Rochels R; Uitto J; McLean WH
    Nat Genet; 1997 Jun; 16(2):184-7. PubMed ID: 9171831
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A novel mutation in the cornea-specific keratin 12 gene in Meesmann corneal dystrophy.
    Seto T; Fujiki K; Kishishita H; Fujimaki T; Murakami A; Kanai A
    Jpn J Ophthalmol; 2008; 52(3):224-226. PubMed ID: 18661274
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification of a Novel Missense
    Dong PN; Cung LX; Sam TK; Hang DTT; Chung DD; Alkadi TA; Buckshey A; Zhang J; Kassels A; Aldave AJ
    Case Rep Ophthalmol; 2020; 11(1):120-126. PubMed ID: 32308613
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [A research on TGFBI gene mutations in Chinese families with corneal dystrophies].
    Qi YH; He HD; Li Y; Lin H; Gu JZ; Su H; Huang SZ
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2006 Jun; 23(3):310-2. PubMed ID: 16767671
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Coexistence of Meesmann Corneal Dystrophy and a Pseudo-Unilateral Lattice Corneal Dystrophy in a Patient With a Novel Pathogenic Variant in the Keratin K3 Gene: A Case Report.
    Abad-Morales V; Barbany M; Gris O; Güell JL; Pomares E
    Cornea; 2021 Mar; 40(3):370-372. PubMed ID: 33346999
    [TBL] [Abstract][Full Text] [Related]  

  • 19. TGFBI (BIGH3) gene mutations in Hungary--report of the novel F547S mutation associated with polymorphic corneal amyloidosis.
    Takács L; Losonczy G; Matesz K; Balogh I; Sohajda Z; Tóth K; Fazakas F; Vereb G; Berta A
    Mol Vis; 2007 Oct; 13():1976-83. PubMed ID: 17982422
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel variant lattice corneal dystrophy caused by association of mutation (V625D) in TGFBI gene.
    Tian X; Fujiki K; Zhang Y; Murakami A; Li Q; Kanai A; Wang W; Hao Y; Ma Z
    Am J Ophthalmol; 2007 Sep; 144(3):473-5. PubMed ID: 17765440
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 10.