메뉴 건너뛰기




Volumn 35, Issue 6, 2010, Pages 1413-1416

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure

Author keywords

[No Author keywords available]

Indexed keywords

DNAH11 PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

EID: 77953508175     PISSN: 09031936     EISSN: 13993003     Source Type: Journal    
DOI: 10.1183/09031936.00186209     Document Type: Letter
Times cited : (57)

References (14)
  • 1
    • 36849090559 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: Current state of the art
    • Bush A, Chodhari R, Collins N, et al. Primary ciliary dyskinesia: current state of the art. Arch Dis Child 2007; 92: 1136-1140.
    • (2007) Arch Dis Child , vol.92 , pp. 1136-1140
    • Bush, A.1    Chodhari, R.2    Collins, N.3
  • 2
    • 34548341829 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: Recent advances in pathogenesis, diagnosis and treatment
    • Lie H, Ferkol T. Primary ciliary dyskinesia: recent advances in pathogenesis, diagnosis and treatment. Drugs 2007; 67: 1883-1892.
    • (2007) Drugs , vol.67 , pp. 1883-1892
    • Lie, H.1    Ferkol, T.2
  • 3
    • 0034750195 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia: Diagnosis in children with inconclusive ultrastructural evaluation
    • Pifferi M, Cangiotti AM, Ragazzo V, et al. Primary ciliary dyskinesia: diagnosis in children with inconclusive ultrastructural evaluation. Pediatr Allergy Immunol 2001; 12: 274-282.
    • (2001) Pediatr Allergy Immunol , vol.12 , pp. 274-282
    • Pifferi, M.1    Cangiotti, A.M.2    Ragazzo, V.3
  • 4
    • 33947407259 scopus 로고    scopus 로고
    • Nasal nitric oxide in atypical primary ciliary dyskinesia
    • Pifferi M, Caramella D, Cangiotti AM, et al. Nasal nitric oxide in atypical primary ciliary dyskinesia. Chest 2007; 131: 870-873.
    • (2007) Chest , vol.131 , pp. 870-873
    • Pifferi, M.1    Caramella, D.2    Cangiotti, A.M.3
  • 5
    • 72949100294 scopus 로고    scopus 로고
    • Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia
    • Pifferi M, Montemurro F, Cangiotti AM, et al. Simplified cell culture method for the diagnosis of atypical primary ciliary dyskinesia. Thorax. 2009; 64: 1077-1081.
    • (2009) Thorax , vol.64 , pp. 1077-1081
    • Pifferi, M.1    Montemurro, F.2    Cangiotti, A.M.3
  • 6
    • 33847678960 scopus 로고    scopus 로고
    • A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia
    • Duriez B, Duquesnoy P, Escudier E, et al. A common variant in combination with a nonsense mutation in a member of the thioredoxin family causes primary ciliary dyskinesia. Proc Natl Acad Sci USA 2007; 104: 3336-3341.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 3336-3341
    • Duriez, B.1    Duquesnoy, P.2    Escudier, E.3
  • 7
    • 38949108779 scopus 로고    scopus 로고
    • Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations
    • Schwabe GC, Hoffmann K, Loges NT, et al. Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations. Hum Mutat 2008; 29: 289-298.
    • (2008) Hum Mutat , vol.29 , pp. 289-298
    • Schwabe, G.C.1    Hoffmann, K.2    Loges, N.T.3
  • 8
    • 40049092616 scopus 로고    scopus 로고
    • Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: Practical issues in children
    • Piacentini GL, Bodini A, Peroni D, et al. Nasal nitric oxide for early diagnosis of primary ciliary dyskinesia: practical issues in children. Respir Med 2008; 102: 541-547.
    • (2008) Respir Med , vol.102 , pp. 541-547
    • Piacentini, G.L.1    Bodini, A.2    Peroni, D.3
  • 9
    • 0036678117 scopus 로고    scopus 로고
    • Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia
    • Bartoloni L, Blouin JL, Pan Y, et al. Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia. Proc Natl Acad Sci USA 2002; 99: 10282-10286.
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 10282-10286
    • Bartoloni, L.1    Blouin, J.L.2    Pan, Y.3
  • 10
    • 0030656618 scopus 로고    scopus 로고
    • Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice
    • Supp DM, Witte DP, Potter SS, et al. Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature 1997; 389: 963-966.
    • (1997) Nature , vol.389 , pp. 963-966
    • Supp, D.M.1    Witte, D.P.2    Potter, S.S.3
  • 11
    • 77953488700 scopus 로고    scopus 로고
    • Date last updated: February 17
    • UniProt Knowledge Database. www.expasy.org/uniprot Date last updated: February 17, 2010.
    • (2010) UniProt Knowledge Database
  • 12
    • 77953493243 scopus 로고    scopus 로고
    • Date last updated: November 6
    • Berkeley Drosophila Genome Project. www.fruitfly.org/seq-tools/ splice.html Date last updated: November 6, 2008.
    • (2008) Berkeley Drosophila Genome Project


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.