다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기
Cell, v.96 no.3, 1999년, pp.437 - 446
Kubisch, C. , Schroeder, B.C. , Friedrich, T. , Lutjohann, B. , El-Amraoui, A. , Marlin, S. , Petit, C. , Jentsch, T.J.
AI-Helper
Potassium channels regulate electrical signaling and the ionic composition of biological fluids. Mutations in the three known genes of the KCNQ branch of the K+ channel gene family underlie inherited cardiac arrhythmias (in some cases associated with deafness) and neonatal epilepsy. We have now clon...
Nature Barhanin 384 78 1996 10.1038/384078a0 KvLQT1 and IsK (minK) proteins associate to form the IKs cardiac potassium current
Science Biervert 279 403 1998 10.1126/science.279.5349.403 A potassium channel mutation in neonatal human epilepsy
Nat. Genet. Charlier 18 53 1998 10.1038/ng0198-53 A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
EMBO J. Chouabe 16 5472 1997 10.1093/emboj/16.17.5472 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias
N. Engl. J. Med. Coucke 331 425 1994 10.1056/NEJM199408183310702 Linkage of autosomal dominant hearing loss to the short arm of chromosome 1 in two families
Nature Denoyelle 393 319 1998 10.1038/30639 Connexin 26 gene linked to dominant deafness
Science Doyle 280 69 1998 10.1126/science.280.5360.69 The structure of the potassium channel
J. Laryngol. Otol. Friedmann 80 451 1966 10.1017/S002221510006552X Pathology of the ear in the cardioauditory syndrome of Jervell and Lange-Nielsen (recessive deafness with electrocardiographic abnormalities)
Gorlin, R.J., Toriello, H.V., and Cohen, M.M. (1995). Hereditary Hearing Loss and its Syndromes. (Oxford, U.K.: Oxford University Press).
J. Physiol. Housley 448 73 1992 10.1113/jphysiol.1992.sp019030 Ionic currents of outer hair cells isolated from the guinea-pig cochlea
J. Neurosci. Kakehata 16 4881 1996 10.1523/JNEUROSCI.16-16-04881.1996 Effects of salicylate and lanthanides on outer hair cell motility and associated gating charge
Hum. Mol. Genet. Kalatzis 7 1589 1998 10.1093/hmg/7.10.1589 The fundamental and medical impacts of recent progress in research on hereditary hearing loss
Nature Kelsell 387 80 1997 10.1038/387080a0 Connexin 26 mutations in hereditary non-syndromic sensorineural deafness
Anat. Embryol. Kikuchi 191 101 1995 10.1007/BF00186783 Gap junctions in the rat cochlea
Nat. Genet. Liu 17 268 1997 10.1038/ng1197-268 Autosomal dominant non-syndromic deafness caused by a mutation in the myosin VIIA gene
Proc. Natl. Acad. Sci. USA Lorenz 93 13362 1996 10.1073/pnas.93.23.13362 Heteromultimeric CLC chloride channels with novel properties
J. Physiol. Mammano 496 639 1996 10.1113/jphysiol.1996.sp021715 Differential expression of outer hair cell potassium currents in the isolated cochlea of the guinea-pig
Annu. Rev. Physiol. Marrion 59 483 1997 10.1146/annurev.physiol.59.1.483 Control of M-current
Hum. Mol. Genet. Mustapha in press 1999 An α-tectorin gene defect causes a newly identified autosomal recessive form of sensineuronal prelingual deafness, DFNB21
Nat. Genet. Neyroud 15 186 1997 10.1038/ng0297-186 A novel mutation in the potassium channel gene KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome
Trends Neurosci. Nobili 21 159 1998 10.1016/S0166-2236(97)01192-2 How well do we understand the cochlea?
Nat. Genet. Petit 14 385 1996 10.1038/ng1296-385 Genes responsible for human hereditary deafness
Hum. Mol. Genet. Russell 5 1319 1996 10.1093/hmg/5.9.1319 KVLQT1 mutations in three families with familial or sporadic long QT syndrome
Hear. Res. Sakagami 56 168 1991 10.1016/0378-5955(91)90166-7 Cellular localization of rat Isk protein in the stria vascularis by immunohistochemical observation
Nature Sanguinetti 384 80 1996 10.1038/384080a0 Coassembly of KVLQT1 and minK (IsK) proteins to form cardiac IKs potassium channel
Histochemistry Schaeren-Wiemers 100 431 1993 10.1007/BF00267823 A single protocol to detect transcripts of various types and expression levels in neural tissue and cultured cells
Nature Schroeder 396 687 1998 10.1038/25367 Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+-channels causes epilepsy
Nat. Genet. Schulze-Bahr 17 267 1997 10.1038/ng1197-267 KCNE1 mutations cause Jervell and Lange-Nielsen syndrome
Nat. Genet. Singh 18 25 1998 10.1038/ng0198-25 A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
Hear. Res. Spicer 100 80 1996 10.1016/0378-5955(96)00106-2 The fine structure of spiral ligament cells relates to ion return to the stria and varies with place-frequency
Hear. Res. Spicer 118 1 1998 10.1016/S0378-5955(98)00006-9 Evidence for a medial K+ recycling pathway from inner hair cells
Nat. Genet. Splawski 17 338 1997 10.1038/ng1197-338 Mutations in the hminK gene cause long QT syndrome and suppress IKs function
Science Takumi 242 1042 1988 10.1126/science.3194754 Cloning of a membrane protein that induces a slow voltage-gated potassium current
Genomics Van Camp 41 70 1997 10.1006/geno.1997.4624 Linkage analysis of progressive hearing loss in five extended families maps the DFNA2 gene to a 1.25-Mb region on chromosome 1p
Nat. Genet. Verhoeven 19 60 1998 10.1038/ng0598-60 Mutations in the human α-tectorin gene cause autosomal dominant non-syndromic hearing impairment
Neuron Vetter 17 1251 1996 10.1016/S0896-6273(00)80255-X Inner ear defects induced by null mutation of the isk gene
Nat. Genet. Wang 12 17 1996 10.1038/ng0196-17 Positional cloning of a novel potassium channel gene
Science Wang 280 1447 1998 10.1126/science.280.5368.1447 Association of unconventional myosin MYO15 mutations with human nonsyndromic deafness DFNB3
Science Wang 282 1890 1998 10.1126/science.282.5395.1890 The KCNQ2 and KCNQ3 potassium channel subunits
Nat. Genet. Weil 16 191 1997 10.1038/ng0697-191 The autosomal recessive isolated deafness, DFNB2, and the Usher 1B syndrome are allelic defects of the myosin-VIIA gene
Arch. Otolaryngol. Wilson 111 2 1985 10.1001/archotol.1985.00800030036002 Deafness in developing countries. Approaches to a global program of prevention
Hum. Mol. Genet. Wollnik 6 1943 1997 10.1093/hmg/6.11.1943 Pathophysiological mechanisms of dominant and recessive KVLQT1 K+ channel mutations found in inherited cardiac arrhythmias
J. Biol. Chem. Yang 273 19419 1998 10.1074/jbc.273.31.19419 Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
해당 논문의 주제분야에서 활용도가 높은 상위 5개 콘텐츠를 보여줍니다.
더보기 버튼을 클릭하시면 더 많은 관련자료를 살펴볼 수 있습니다.
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
저자가 APC(Article Processing Charge)를 지불한 논문에 한하여 자유로운 이용이 가능한, hybrid 저널에 출판된 논문
Copyright KISTI. All Rights Reserved.
※ AI-Helper는 부적절한 답변을 할 수 있습니다.