A novel Alu-like element rearranged in the dystrophin gene causes a splicing mutation in a family with X-linked dilated cardiomyopathy.
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F. Muntoni | A. Branzi | A. Ferlini | C. Sewry | L. Merlini | N. Galiè
[1] F. Muntoni,et al. The 5' region of intron 11 of the dystrophin gene contains target sequences for mobile elements and three overlapping ORFs. , 1998, Biochemical and biophysical research communications.
[2] E. McNally,et al. Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21. , 1997, American journal of human genetics.
[3] R. Britten,et al. DNA sequence insertion and evolutionary variation in gene regulation. , 1996, Proceedings of the National Academy of Sciences of the United States of America.
[4] B Maisch,et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. , 1996, Circulation.
[5] M. Keating,et al. Mapping a cardiomyopathy locus to chromosome 3p22-p25. , 1996, The Journal of clinical investigation.
[6] L. Mestroni,et al. A point mutation in the 5' splice site of the dystrophin gene first intron responsible for X-linked dilated cardiomyopathy. , 1996, Human molecular genetics.
[7] J. Towbin,et al. Localization of a gene responsible for familial dilated cardiomyopathy to chromosome 1q32. , 1995, Circulation.
[8] N. Craig. Unity in Transposition Reactions , 1995, Science.
[9] L. Mestroni,et al. Linkage of familial dilated cardiomyopathy to chromosome 9. Heart Muscle Disease Study Group. , 1995, American journal of human genetics.
[10] E. Brody,et al. A T to G mutation in the polypyrimidine tract of the second intron of the human beta-globin gene reduces in vitro splicing efficiency: evidence for an increased hnRNP C interaction. , 1995, Nucleic acids research.
[11] Z. Pausova,et al. Insertion of an Alu sequence in the Ca(2+)-sensing receptor gene in familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. , 1995, American journal of human genetics.
[12] C. Antignac,et al. Splice-mediated insertion of an Alu sequence in the COL4A3 mRNA causing autosomal recessive Alport syndrome. , 1995, Human molecular genetics.
[13] M. Freeling,et al. Transposon-induced promoter scrambling: a mechanism for the evolution of new alleles. , 1995, Proceedings of the National Academy of Sciences of the United States of America.
[14] Dubowitz,et al. Transcription of the dystrophin gene in normal tissues and in skeletal muscle of a family with X-linked dilated cardiomyopathy. , 1995, American journal of human genetics.
[15] W. Gahl,et al. Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1 , 1995, Human mutation.
[16] D. Labuda,et al. Alu sequences in the coding regions of mRNA: a source of protein variability. , 1994, Trends in genetics : TIG.
[17] H. Kazazian,et al. A new retrotransposable human L1 element from the LRE2 locus on chromosome 1q produces a chimaeric insertion , 1994, Nature Genetics.
[18] S. Kingsmore,et al. Glycine receptor β–subunit gene mutation in spastic mouse associated with LINE–1 element insertion , 1994, Nature Genetics.
[19] V. Dubowitz,et al. Manifesting carriers of Xp21 muscular dystrophy; Lack of correlation between dystrophin expression and clinical weakness , 1993, Neuromuscular Disorders.
[20] N. Yanagisawa,et al. Molecular analysis of the duchenne muscular dystrophy gene in patients with becker muscular dystrophy presenting with dilated cardiomyopathy , 1993, Muscle & nerve.
[21] F. Muntoni,et al. Brief report: deletion of the dystrophin muscle-promoter region associated with X-linked dilated cardiomyopathy. , 1993, The New England journal of medicine.
[22] P. Bray,et al. Homologous recombination among three intragene Alu sequences causes an inversion-deletion resulting in the hereditary bleeding disorder Glanzmann thrombasthenia. , 1993, American journal of human genetics.
[23] H. Nishio,et al. Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy. , 1993, The Journal of clinical investigation.
[24] L. Kunkel,et al. The structural and functional diversity of dystrophin , 1993, Nature Genetics.
[25] J. Towbin,et al. X‐Linked Dilated Cardiomyopathy Molecular Genetic Evidence of Linkage to the Duchenne Muscular Dystrophy (Dystrophin) Gene at the Xp21 Locus , 1993, Circulation.
[26] M. Vidaud,et al. Haemophilia B Due to a De Novo Insertion of a Human-Specific Alu Subfamily Member within the Coding Region of the Factor IX Gene , 1993, European journal of human genetics : EJHG.
[27] A. Riggs,et al. Genomic Sequencing , 2010 .
[28] J. Favor,et al. Insertional mutations in mammals and mammalian cells. , 1992, Mutation research.
[29] C. Hutchison,et al. Master genes in mammalian repetitive DNA amplification. , 1992, Trends in genetics : TIG.
[30] R. Gibbs,et al. A transposon-like element in the deletion-prone region of the dystrophin gene. , 1992, Genomics.
[31] W. Abelmann,et al. Prevalence and etiology of idiopathic dilated cardiomyopathy (summary of a National Heart, Lung, and Blood Institute workshop. , 1992, The American journal of cardiology.
[32] J. Boeke,et al. Reverse transcriptase encoded by a human transposable element. , 1991, Science.
[33] T. Kaneko,et al. Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[34] Thomas W. Glover,et al. A de novo Alu insertion results in neurofibromatosis type 1 , 1991, Nature.
[35] C. Obie,et al. Splice-mediated insertion of an Alu sequence inactivates ornithine delta-aminotransferase: a role for Alu elements in human mutation. , 1991, Proceedings of the National Academy of Sciences of the United States of America.
[36] V. Corces,et al. Retrotransposon‐induced overexpression of a homeobox gene causes defects in eye morphogenesis in Drosophila. , 1991, The EMBO journal.
[37] M. Green,et al. Mechanism for cryptic splice site activation during pre-mRNA splicing. , 1990, Proceedings of the National Academy of Sciences of the United States of America.
[38] R A Gibbs,et al. Deletion screening of the Duchenne muscular dystrophy locus via multiplex DNA amplification. , 1988, Nucleic acids research.
[39] R. Britten,et al. Sources and evolution of human Alu repeated sequences. , 1988, Proceedings of the National Academy of Sciences of the United States of America.
[40] A. Monaco,et al. An explanation for the phenotypic differences between patients bearing partial deletions of the DMD locus. , 1988, Genomics.
[41] P. Chomczyński,et al. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. , 1987, Analytical biochemistry.
[42] A. Weiner,et al. Nonviral retroposons: genes, pseudogenes, and transposable elements generated by the reverse flow of genetic information. , 1986, Annual review of biochemistry.
[43] M. Zasloff,et al. Transcription, processing and nuclear transport of a B1 Alu RNA species complementary to an intron of the murine α-fetoprotein gene , 1985, Nature.
[44] S. Latt,et al. Identification and isolation of transcribed human X chromosome DNA sequences. , 1983, Nucleic acids research.