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Literature DB >> 3562224

Isolation of a conserved sequence deleted in Duchenne muscular dystrophy patients.

T J Smith, L Wilson, S J Kenwrick, S M Forrest, A Speer, C Coutelle, K E Davies.

Abstract

We have isolated a DNA sequence (HIP25) by subtraction- hybridisation which is deleted in a number of Duchenne muscular dystrophy (DMD) patients. HIP25 is conserved in evolution and hybridises to human fetal and adult muscle mRNA. HIP25 is absent in human fetal fibroblast mRNA. Physical mapping data localise this sequence within Xp21 between the breakpoints of X;autosome translocations found in two females suffering from the disease. HIP25 is a candidate exon sequence for the basic defect in DMD boys deleted at this locus.

Entities: Disease Species

Mesh：

Substances：
RNA, Messenger

Year: 1987 PMID： 3562224 PMCID： PMC340624 DOI： 10.1093/nar/15.5.2167

Source DB: PubMed Journal: Nucleic Acids Res ISSN： 0305-1048 Impact factor: 16.971

14 in total

Review 1. Molecular genetics of the human X chromosome.

Authors: K E Davies
Journal: J Med Genet Date: 1985-08 Impact factor: 6.318

2. Interferon inhibits transformation by murine sarcoma viruses before integration of provirus.

Authors: R J Avery; J D Norton; J S Jones; D C Burke; A G Morris
Journal: Nature Date: 1980-11-06 Impact factor: 49.962

Review 3. Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.

Authors: H Moser
Journal: Hum Genet Date: 1984 Impact factor: 4.132

4. An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695.

Authors: R M Greenstein; M P Reardon; T S Chan; A B Middleton; R A Mulivor; A E Greene; L L Coriell
Journal: Cytogenet Cell Genet Date: 1980

5. Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy.

Authors: L M Kunkel; J F Hejtmancik; C T Caskey; A Speer; A P Monaco; W Middlesworth; C A Colletti; C Bertelson; U Müller; M Bresnan; F Shapiro; U Tantravahi; J Speer; S A Latt; R Bartlett; M A Pericak-Vance; A D Roses; M W Thompson; P N Ray; R G Worton; K H Fischbeck; P Gallano; M Coulon; C Duros; J Boue; C Junien; J Chelly; G Hamard; M Jeanpierre; M Lambert; J C Kaplan; A Emery; H Dorkins; S McGlade; K E Davies; C Boehm; B Arveiler; C Lemaire; G J Morgan; M J Denton; J Amos; M Bobrow; F Benham; E Boswinkel; C Cole; V Dubowitz; K Hart; S Hodgson; L Johnson; A Walker; L Roncuzzi; A Ferlini; C Nobile; G Romeo; D E Wilcox; N A Affara; M A Ferguson-Smith; M Lindolf; H Kaariainen; A de la Chapelle; V Ionasescu; C Searby; R Ionasescu; E Bakker; G J van Ommen; P L Pearson; C R Greenberg; J L Hamerton; K Wrogemann; R A Doherty; R Polakowska; C Hyser; S Quirk; N Thomas; J F Harper; B T Darras; U Francke
Journal: Nature Date: 1986 Jul 3-9 Impact factor: 49.962

6. Toward a complete linkage map of the human X chromosome: regional assignment of 16 cloned single-copy DNA sequences employing a panel of somatic cell hybrids.

Authors: P Wieacker; K E Davies; H J Cooke; P L Pearson; R Williamson; S Bhattacharya; J Zimmer; H H Ropers
Journal: Am J Hum Genet Date: 1984-03 Impact factor: 11.025

7. Y-encoded, species-specific DNA in mice: evidence that the Y chromosome exists in two polymorphic forms in inbred strains.

Authors: E E Lamar; E Palmer
Journal: Cell Date: 1984-05 Impact factor: 41.582

8. Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.

Authors: L M Kunkel; A P Monaco; W Middlesworth; H D Ochs; S A Latt
Journal: Proc Natl Acad Sci U S A Date: 1985-07 Impact factor: 11.205

9. Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment.

Authors: A P Monaco; C J Bertelson; W Middlesworth; C A Colletti; J Aldridge; K H Fischbeck; R Bartlett; M A Pericak-Vance; A D Roses; L M Kunkel
Journal: Nature Date: 1985 Aug 29-Sep 4 Impact factor: 49.962

10. Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome.

Authors: K E Davies; P L Pearson; P S Harper; J M Murray; T O'Brien; M Sarfarazi; R Williamson
Journal: Nucleic Acids Res Date: 1983-04-25 Impact factor: 16.971

13 in total

1. A 230kb cosmid walk in the Duchenne muscular dystrophy gene: detection of a conserved sequence and of a possible deletion prone region.

Authors: R Heilig; C Lemaire; J L Mandel
Journal: Nucleic Acids Res Date: 1987-11-25 Impact factor: 16.971

2. Analysis of Scottish Duchenne and Becker muscular dystrophy families with dystrophin cDNA probes.

Authors: A Cooke; W G Lanyon; D E Wilcox; E S Dornan; A Kataki; E F Gillard; A J McWhinnie; A Morris; M A Ferguson-Smith; J M Connor
Journal: J Med Genet Date: 1990-05 Impact factor: 6.318

3. Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes.

Authors: A Speer; A W Spiegler; R Hanke; K Grade; U Giertler; J Schieck; S Forrest; K E Davies; R Neumann; R Bollmann
Journal: J Med Genet Date: 1989-01 Impact factor: 6.318

4. Deletion screening in patients with Duchenne muscular dystrophy.

Authors: K Wulff; F H Herrmann; M C Wapenaar; M Wehnert
Journal: J Neurol Date: 1989-12 Impact factor: 4.849

Review 5. On the nature of the Duchenne muscular dystrophy locus: a portion of a complex of related gene clusters of recent pseudoautosomal origin?

Authors: J P Infante; V A Huszagh
Journal: Mol Cell Biochem Date: 1988-06 Impact factor: 3.396