Literature DB >> 3477955

Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6.

S S Rich1, P Wilkie, L Schut, G Vance, H T Orr.   

Abstract

Inherited spinocerebellar ataxias (SCA) are progressively degenerative neurological diseases. The primary site of degeneration is the cerebellar cortex--in particular, the Purkinje cells. In the present report, the SCA locus, inherited as an autosomal dominant trait in a large kindred, is localized to a region approximately 15 centimorgans telomeric of HLA-A on the short arm of chromosome 6.

Entities:  

Mesh：

Substances：

Year:  1987        PMID： 3477955      PMCID： PMC1684306     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  17 in total

1.  Labeling deoxyribonucleic acid to high specific activity in vitro by nick translation with DNA polymerase I.

Authors:  P W Rigby; M Dieckmann; C Rhodes; P Berg
Journal:  J Mol Biol       Date:  1977-06-15       Impact factor: 5.469

2.  Use of DNA probes from the 5' flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus.

Authors:  K Steere; B Sidwell; R Leach; F E Ward; J D Taurog; H T Orr
Journal:  Hum Immunol       Date:  1986-06       Impact factor: 2.850

3.  Olivopontocerebellar degeneration. Clinical and ultrastructural abnormalities.

Authors:  D M Landis; R N Rosenberg; S C Landis; L Schut; W L Nyhan
Journal:  Arch Neurol       Date:  1974-11

4.  Estimation of the recombination fraction in human pedigrees: efficient computation of the likelihood for human linkage studies.

Authors:  J Ott
Journal:  Am J Hum Genet       Date:  1974-09       Impact factor: 11.025

Review 5.  The olivopontocerebellar atrophies: a review.

Authors:  B W Konigsmark; L P Weiner
Journal:  Medicine (Baltimore)       Date:  1970-05       Impact factor: 1.889

6.  A linkage study of hereditary ataxias and related disorders. Evidence of heterogeneity of dominant cerebellar ataxia.

Authors:  L Pedersen; P Platz; L P Ryder; L U Lamm; J Dissing
Journal:  Hum Genet       Date:  1980       Impact factor: 4.132

7.  Clonal transformation of adult human leukocytes by Epstein-Barr virus.

Authors:  B Sugden; W Mark
Journal:  J Virol       Date:  1977-09       Impact factor: 5.103

8.  HLA--determination in families with hereditary ataxia.

Authors:  E Möller; B Hindfelt; J E Olsson
Journal:  Tissue Antigens       Date:  1978-11

9.  A family with hereditary ataxia: HLA typing.

Authors:  H E Nino; H J Noreen; D P Dubey; J A Resch; K Namboodiri; R C Elston; E J Yunis
Journal:  Neurology       Date:  1980-01       Impact factor: 9.910

10.  Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing.

Authors:  J F Jackson; R D Currier; P I Terasaki; N E Morton
Journal:  N Engl J Med       Date:  1977-05-19       Impact factor: 91.245
View more
  16 in total

Review 1.  SCA1-phosphorylation, a regulator of Ataxin-1 function and pathogenesis.

Authors:  Harry T Orr
Journal:  Prog Neurobiol       Date:  2012-04-16       Impact factor: 11.685

2.  Spinocerebellar ataxia: multipoint linkage analysis of genes associated with the disease locus.

Authors:  P J Wilkie; L J Schut; S S Rich
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

3.  A new HincII polymorphism at the epidermal growth factor receptor locus on chromosome 7.

Authors:  G Abrahamson; J S Wainscoat
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

4.  A polymorphic DNA probe, p1-10-2, from chromosome 6.

Authors:  L Duvick; S S Rich; H T Orr
Journal:  Nucleic Acids Res       Date:  1990-05-25       Impact factor: 16.971

5.  Brain acetylcholinesterase activity is markedly reduced in dominantly-inherited olivopontocerebellar atrophy.

Authors:  S J Kish; L Schut; J Simmons; J Gilbert; L J Chang; M Rebbetoy
Journal:  J Neurol Neurosurg Psychiatry       Date:  1988-04       Impact factor: 10.154

6.  The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to the HLA complex and is closely linked to the D6S89 locus in three large kindreds.

Authors:  H Y Zoghbi; C Jodice; L A Sandkuijl; T J Kwiatkowski; A E McCall; S A Huntoon; P Lulli; M Spadaro; M Litt; H M Cann
Journal:  Am J Hum Genet       Date:  1991-07       Impact factor: 11.025

7.  Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded.

Authors:  B J Keats; M S Pollack; A McCall; M A Wilensky; L J Ward; M Lu; H Y Zoghbi
Journal:  Am J Hum Genet       Date:  1991-11       Impact factor: 11.025

8.  Confirmation of the SCA-2 locus as an alternative locus for dominantly inherited spinocerebellar ataxias and refinement of the candidate region.

Authors:  I Lopes-Cendes; E Andermann; E Attig; F Cendes; S Bosch; M Wagner; F Gerstenbrand; F Andermann; G A Rouleau
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

9.  A third locus for autosomal dominant cerebellar ataxia type I maps to chromosome 14q24.3-qter: evidence for the existence of a fourth locus.

Authors:  G Stevanin; E Le Guern; N Ravisé; H Chneiweiss; A Dürr; G Cancel; A Vignal; A L Boch; M Ruberg; C Penet
Journal:  Am J Hum Genet       Date:  1994-01       Impact factor: 11.025

10.  Spinocerebellar ataxia type 1 in Russia.

Authors:  S N Illarioshkin; P A Slominsky; I V Ovchinnikov; E D Markova; N I Miklina; S A Klyushnikov; M Shadrina; N V Vereshchagin; S A Limborskaya; I A Ivanova-Smolenskaya
Journal:  J Neurol       Date:  1996-07       Impact factor: 4.849
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.