최소 단어 이상 선택하여야 합니다.
최대 10 단어까지만 선택 가능합니다.
다음과 같은 기능을 한번의 로그인으로 사용 할 수 있습니다.
NTIS 바로가기Cell, v.88 no.4, 1997년, pp.543 - 551
Jonkman, Marcel F (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Scheffer, Hans (Department of Medical Genetics, University of Groningen, NL-9713 AW Groningen, The Netherlands) , Stulp, Rein (Department of Medical Genetics, University of Groningen, NL-9713 AW Groningen, The Netherlands) , Pas, Hendri H (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Nijenhuis, Miranda (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Heeres, Klaas (Department of Dermatology, University Hospital Groningen, NL-9700 RB Groningen, The Netherlands) , Owaribe, Katsushi (Department of Molecular Biology, Nagoya University School of Medicine, Nagoya-Shi 464–) , Pulkkinen, Leena (01, Japan) , Uitto, Jouni (Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA)
AbstractMitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic...
Nature Cavenee 305 779 1983 10.1038/305779a0 Expression of recessive alleles by chromosomal mechanisms in retinoblastoma
Genomics Christiano 21 160 1994 10.1006/geno.1994.1238 Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa
J. Am. Acad. Dermatol. Fine 24 119 1991 10.1016/0190-9622(91)70021-S Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
EMBO J. Gangloff 15 1715 1996 10.1002/j.1460-2075.1996.tb00517.x Gene conversion plays the major role in controlling the stability of large tandem repeats in yeasts
Proc. Natl. Acad. Sci. USA Ganguly 90 10325 1993 10.1073/pnas.90.21.10325 Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments
Am. J. Hum. Genet. Gatalica 60 352 1997 Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
J. Invest. Dermatol. Giudice 99 243 1992 10.1111/1523-1747.ep12616580 Cloning and primary structural analysis of the bullous pemhigoid autoantigen BP180
Nature Genet. Gyapay 7 246 1994 10.1038/ng0694supp-246 The 1993-94 Genethon human genetic linkage map
Am. J. Hum. Genet. Hall 43 355 1988 Review and hypotheses
Arch. Dermatol. Hintner 118 375 1982 10.1001/archderm.1982.01650180009008 Generalized atrophic benign epidermolysis bullosa
Nature Genet. Hirschhorn 13 290 1996 10.1038/ng0796-290 Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
J. Neurol. Sci. Hoffman 99 9 1990 10.1016/0022-510X(90)90195-S Somatic reversion/suppresion of the mouse mdx phenotype in vivo
J. Invest. Dermatol. Jonkman 99 489 1992 10.1111/1523-1747.ep12616168 Expression of integrin α6β4 in junctional epidermolysis bullosa
J. Clin. Invest. Jonkman 95 1345 1995 10.1172/JCI117785 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa
Am. J. Hum. Genet. Klein 50 950 1992 Somatic reversion/suppression in Duchenne muscular dystrophy (DMD)
Trends Genet. Kourilsky 2 60 1986 10.1016/0168-9525(86)90179-4 Molecular mechanisms for gene conversion in higher cells
J. Clin. Invest. Kvittingen 94 1657 1994 10.1172/JCI117509 Self-induced correction of the genetic defect in tyrosinemia type I
J. Biol. Chem. Li 266 24064 1991 10.1016/S0021-9258(18)54393-3 Genomic organization of collagenous domains and chromosomal assignment of human 180 kD bullous pemphigoid antigen (BPAG2), a novel collagen of stratified squamous epithelium
J. Biol. Chem. Li 268 8825 1993 10.1016/S0021-9258(18)52948-3
Nature Genet. McGrath 11 83 1995 10.1038/ng0995-83 Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
J. Invest. Dermatol. McGrath 106 771 1996 10.1111/1523-1747.ep12345821 A homozygous deletion mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa
Mitra 17 1994 Keratinocyte Methods Cultivation of human epidermal keratinocytes in serum-free growth medium
J. Biochem. (Tokyo) Nishizawa 113 493 1993 10.1093/oxfordjournals.jbchem.a124072 HD4, a 180 kDa bullous pemphigoid antigen, is a major transmembrane glycoprotein of the hemidesmosome
Online Mendelian Inheritance in Man, OMIM (TM). (1996). Johns Hopkins University, Baltimore, MD. MIM number: 201910: 11/14/1996. World Wide Web URL: http://www3.ncbi.nlm.nih.gov/omim/
Exp. Cell Res. Owaribe 192 622 1991 10.1016/0014-4827(91)90084-8 Isolation and characterization of hemidesmosomes from bovine corneal epithelial cells
New Eng. J. Med. Paller 331 1408 1994 10.1056/NEJM199411243312103 Genetic and clinical mosaicism in a type of epidermal nevus
Exp. Dermatol. Pas 4 372 1995 10.1111/j.1600-0625.1995.tb00062.x Bullous pemphigoid
Exp. Dermatol. Pohla-Gubo 4 199 1995 10.1111/j.1600-0625.1995.tb00245.x Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa
Am. J. Hum. Genet. Sherratt 53 1007 1993 Exon skipping and translation in patients with frame shift deletions in the dystrophin gene
Phil. Trans. R. Soc. Lond. Smithies 312 291 1986 10.1098/rstb.1986.0008 Gene conversions and their relation to homologous chromosome pairing
J. Theor. Biol. Unrau 177 73 1995 10.1006/jtbi.1995.0226 Can tetraplex recombination models explain observations in induced mitotic gene conversion
Mol. Cell. Biol. Urlaub 9 2868 1989 10.1128/MCB.9.7.2868 Nonsense mutations in the dihydrofolate reductase gene affect RNA processing
Proc. Natl. Acad. Sci. USA Van Leeuwen 86 6417 1989 10.1073/pnas.86.16.6417 Age-related development of a heterozygous phenotype in solitary neurons of the homozygous Brattleboro rat
*원문 PDF 파일 및 링크정보가 존재하지 않을 경우 KISTI DDS 시스템에서 제공하는 원문복사서비스를 사용할 수 있습니다.
출판사/학술단체 등이 한시적으로 특별한 프로모션 또는 일정기간 경과 후 접근을 허용하여, 출판사/학술단체 등의 사이트에서 이용 가능한 논문
※ AI-Helper는 부적절한 답변을 할 수 있습니다.