Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
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저자
김주원
최재영
이민구
이경아
정진세
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제어번호
101635490
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학술지명
Experimental and molecular medicine
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권호사항
Vol.
47
No.
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[
2015
]
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발행처
생화학분자생물학회
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자료유형
학술저널
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수록면
1-7
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언어
English
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출판년도
2015
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등재정보
KCI등재
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판매처
'
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene' 의 주제별 논문영향력
논문영향력 요약
주제 |
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동일주제 총논문수 |
논문피인용 총횟수 |
주제별 논문영향력의 평균 |
449
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0
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주제별 논문영향력
논문영향력
주제 |
주제별 논문수 |
주제별 피인용횟수 |
주제별 논문영향력 |
주제분류(KDC/DDC) |
생물학
|
461
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0
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계 |
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461
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0
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* 다른 주제어 보유 논문에서 피인용된 횟수 |
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'
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene' 의 참고문헌
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V37I connexin 26allele in patients with sensorineural hearing loss : evidence of its pathogenicity
Huculak C
Am J Med Genet A 140 : 2394 ~ 2400
[2006]
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V37I connexin 26allele in patients with sensorineural hearing loss : evidence of its pathogenicity
Huculak C
Am J Med Genet A 140 2394-2400
[2006]
-
Structure of the connexin 26 gap junction channel at 3.5 A resolution
Maeda S
Nature 458 : 597 ~ 602
[2009]
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Structure of the connexin 26 gap junction channel at 3.5 A resolution
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SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
Biasini M
Nucleic Acids Res 42 : W252 ~ W258
[2014]
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SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
Biasini M
Nucleic Acids Res 42 W252-W258
[2014]
-
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG
Iossa S
Am J Med Genet A 152A : 2658 ~ 2660
[2010]
-
R75Q dominant mutation in GJB2 gene silenced by the in Cis recessive mutation c.35delG
Iossa S
Am J Med Genet A 152A 2658-2660
[2010]
-
Pathogenetic role of the deafness-related M34T mutation of Cx26
Bicego M
Hum Mol Genet 15 : 2569 ~ 2587
[2006]
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Pathogenetic role of the deafness-related M34T mutation of Cx26
Bicego M
Hum Mol Genet 15 2569-2587
[2006]
-
Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26)gene
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Molecular basis of childhood deafness resulting from mutations in the GJB2(connexin 26)gene
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M34T and V37I mutations in GJB2 associated hearing impairment:evidence for pathogenicity and reduced penetrance
Pollak A
Am J Med Genet A 143A : 2534 ~ 2543
[2007]
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M34T and V37I mutations in GJB2 associated hearing impairment:evidence for pathogenicity and reduced penetrance
Pollak A
Am J Med Genet A 143A 2534-2543
[2007]
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Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness
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Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness
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Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness
Nickel R
Curr Opin Otolaryngol Head Neck Surg 16 : 452 ~ 457
[2008]
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Gap junctions and connexins in the inner ear: their roles in homeostasis and deafness
Nickel R
Curr Opin Otolaryngol Head Neck Surg 16 452-457
[2008]
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Functional evaluation of GJB2 variants in nonsyndromic hearing loss
Choi SY
Mol Med 17 : 550 ~ 556
[2011]
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Functional evaluation of GJB2 variants in nonsyndromic hearing loss
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Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss
Choi SY
Hum Mutat 30 : E716 ~ E727
[2009]
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Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss
Choi SY
Hum Mutat 30 E716-E727
[2009]
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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
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Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
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Connexin 26 gene mutations in congenitally deaf children : pitfalls for genetic counseling
Marlin S
Arch Otolaryngol Head Neck Surg 127 : 927 ~ 933
[2001]
-
Connexin 26 gene mutations in congenitally deaf children : pitfalls for genetic counseling
Marlin S
Arch Otolaryngol Head Neck Surg 127 927-933
[2001]
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Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
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Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient
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Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
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Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling
-
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype
Clain J
Hum Genet 116 : 454 ~ 460
[2005]
-
A neutral variant involved in a complex CFTR allele contributes to a severe cystic fibrosis phenotype
Clain J
Hum Genet 116 454-460
[2005]
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A large cohort study of GJB2 mutations in Japanese hearing loss patients
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A large cohort study of GJB2 mutations in Japanese hearing loss patients
'
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene'
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