Literature DB >> 8557270

Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.

A Kuwano1, Y Morimoto, T Nagai, Y Fukushima, H Ohashi, T Hasegawa, I Kondo.   

Abstract

The precise chromosomal localization of the gene for dentatorubral-pallidoluysian atrophy (DRPLA) was detected by deletion mapping. Segregation patterns of genotypes of polymerase chain reaction products of DRPLA, von Willebrand factor (F8vWF), antigen CD4(p55) (CD4) and parathyroid hormone-like hormone (PTHLH) loci were studied in patients with del(12)(p13.3p13.3), del(12)(p12.3-p11.2), del(12)(p12.1-p11.2), del(12) (p11.2p11.2) and their parents. The gene for DRPLA was assigned to p13.1-p12.3 of chromosome 12. In addition, genes for F8vWF and PTHLH were mapped to p13.2 and p11.2 of chromosome 12, respectively.

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Year:  1996        PMID： 8557270     DOI： 10.1007/bf00218841

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  15 in total

1.  The gene encoding the T-cell surface protein T4 is located on human chromosome 12.

Authors:  M Isobe; K Huebner; P J Maddon; D R Littman; R Axel; C M Croce
Journal:  Proc Natl Acad Sci U S A       Date:  1986-06       Impact factor: 11.205

2.  Report and abstracts of the Second International Workshop on Human Chromosome 12 mapping 1994. New Haven, Connecticut, June 20-22, 1994.

Authors:  R Kucherlapati; I Craig; P Marynen
Journal:  Cytogenet Cell Genet       Date:  1994

3.  DRPLA in Europe.

Authors:  T T Warner; L Williams; A E Harding
Journal:  Nat Genet       Date:  1994-03       Impact factor: 38.330

4.  Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy.

Authors:  H Naito; S Oyanagi
Journal:  Neurology       Date:  1982-08       Impact factor: 9.910

5.  Inhibitory effect of ethidium bromide on mitotic chromosome condensation and its application to high-resolution chromosome banding.

Authors:  T Ikeuchi
Journal:  Cytogenet Cell Genet       Date:  1984

6.  Novel triplet repeat containing genes in human brain: cloning, expression, and length polymorphisms.

Authors:  S H Li; M G McInnis; R L Margolis; S E Antonarakis; C A Ross
Journal:  Genomics       Date:  1993-06       Impact factor: 5.736

7.  Structure and expression of the gene responsible for the triplet repeat disorder, dentatorubral and pallidoluysian atrophy (DRPLA).

Authors:  S Nagafuchi; H Yanagisawa; E Ohsaki; T Shirayama; K Tadokoro; T Inoue; M Yamada
Journal:  Nat Genet       Date:  1994-10       Impact factor: 38.330

8.  Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA).

Authors:  R Koide; T Ikeuchi; O Onodera; H Tanaka; S Igarashi; K Endo; H Takahashi; R Kondo; A Ishikawa; T Hayashi
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

9.  Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p.

Authors:  S Nagafuchi; H Yanagisawa; K Sato; T Shirayama; E Ohsaki; M Bundo; T Takeda; K Tadokoro; I Kondo; N Murayama
Journal:  Nat Genet       Date:  1994-01       Impact factor: 38.330

10.  Anticipation in hereditary dentatorubral-pallidoluysian atrophy.

Authors:  A Sano; N Yamauchi; Y Kakimoto; O Komure; J Kawai; F Hazama; K Kuzume; N Sano; I Kondo
Journal:  Hum Genet       Date:  1994-06       Impact factor: 4.132
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  2 in total

1.  In vivo gene transfer strategies to achieve partial correction of von Willebrand disease.

Authors:  Lan Wang; Jonathan B Rosenberg; Bishnu P De; Barbara Ferris; Rui Wang; Stefano Rivella; Stephen M Kaminsky; Ronald G Crystal
Journal:  Hum Gene Ther       Date:  2012-06-25       Impact factor: 5.695

Review 2.  Advances in Modeling Polyglutamine Diseases Using Genome Editing Tools.

Authors:  Marianna Karwacka; Marta Olejniczak
Journal:  Cells       Date:  2022-02-02       Impact factor: 6.600
  2 in total

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