메뉴 건너뛰기




Volumn 35, Issue 5, 2014, Pages 618-624

A Frameshift Mutation in GRXCR2 Causes Recessively Inherited Hearing Loss

Author keywords

Deafness; DFNB101; GRXCR2; Moderate to severe; Pakistan; Progressive

Indexed keywords

GLUTAREDOXIN LIKE CYSTEINE RICH 2; MUTANT PROTEIN; PROTEIN; UNCLASSIFIED DRUG; GLUTAREDOXIN; GRXCR2 PROTEIN, HUMAN;

EID: 84898803026     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22545     Document Type: Article
Times cited : (39)

References (22)
  • 4
    • 2942642590 scopus 로고    scopus 로고
    • Automatic and quantitative measurement of protein-protein colocalization in live cells
    • Costes SV, Daelemans D, Cho EH, Dobbin Z, Pavlakis G, Lockett S. 2004. Automatic and quantitative measurement of protein-protein colocalization in live cells. Biophys J 86:3993-4003.
    • (2004) Biophys J , vol.86 , pp. 3993-4003
    • Costes, S.V.1    Daelemans, D.2    Cho, E.H.3    Dobbin, Z.4    Pavlakis, G.5    Lockett, S.6
  • 5
    • 84875479186 scopus 로고    scopus 로고
    • Children with sensorineural hearing loss after passing the newborn hearing screen
    • Dedhia K, Kitsko D, Sabo D, Chi DH. 2013. Children with sensorineural hearing loss after passing the newborn hearing screen. JAMA Otolaryngol Head Neck Surg 139:1-5.
    • (2013) JAMA Otolaryngol Head Neck Surg , vol.139 , pp. 1-5
    • Dedhia, K.1    Kitsko, D.2    Sabo, D.3    Chi, D.H.4
  • 8
    • 0024393963 scopus 로고
    • Thioredoxin and glutaredoxin systems
    • Holmgren A. 1989. Thioredoxin and glutaredoxin systems. J Biol Chem 264:13963-13966.
    • (1989) J Biol Chem , vol.264 , pp. 13963-13966
    • Holmgren, A.1
  • 9
    • 0034534165 scopus 로고    scopus 로고
    • Antioxidant function of thioredoxin and glutaredoxin systems
    • Holmgren A. 2000. Antioxidant function of thioredoxin and glutaredoxin systems. Antioxid Redox Signal 2:811-820.
    • (2000) Antioxid Redox Signal , vol.2 , pp. 811-820
    • Holmgren, A.1
  • 11
    • 84862310394 scopus 로고    scopus 로고
    • A rapid and cost-effective protocol for screening known genes for autosomal recessive deafness
    • Imtiaz A, Naz S. 2012. A rapid and cost-effective protocol for screening known genes for autosomal recessive deafness. Pak J Zool 44:641-647.
    • (2012) Pak J Zool , vol.44 , pp. 641-647
    • Imtiaz, A.1    Naz, S.2
  • 13
    • 67651102514 scopus 로고    scopus 로고
    • Yeast phosducin-like protein 2 acts as a stimulatory co-factor for the folding of actin by the chaperonin CCT via a ternary complex
    • McCormack EA, Altschuler GM, Dekker C, Filmore H, Willison KR. 2009. Yeast phosducin-like protein 2 acts as a stimulatory co-factor for the folding of actin by the chaperonin CCT via a ternary complex. J Mol Biol 391:192-206.
    • (2009) J Mol Biol , vol.391 , pp. 192-206
    • McCormack, E.A.1    Altschuler, G.M.2    Dekker, C.3    Filmore, H.4    Willison, K.R.5
  • 14
    • 84876718503 scopus 로고    scopus 로고
    • Genetics of nonsyndromic recessively inherited moderate to severe and progressive deafness in humans
    • Naz S, editor.. Croatia: Intech.
    • Naz S. 2012. Genetics of nonsyndromic recessively inherited moderate to severe and progressive deafness in humans. In: Naz S, editor. Hearing loss. Croatia: Intech. p 247-274.
    • (2012) Hearing loss , pp. 247-274
    • Naz, S.1
  • 20
    • 56749176947 scopus 로고    scopus 로고
    • One step at a time: endoplasmic reticulum-associated degradation
    • Vembar SS, Brodsky JL. 2008. One step at a time: endoplasmic reticulum-associated degradation. Nat Rev Mol Cell Biol 9:944-957.
    • (2008) Nat Rev Mol Cell Biol , vol.9 , pp. 944-957
    • Vembar, S.S.1    Brodsky, J.L.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.