Literature DB >> 2174830

Homozygosity for the met30 transthyretin gene in a Turkish kindred with familial amyloidotic polyneuropathy.

J Skare1, H Yazici, E Erken, H Dede, A Cohen, A Milunsky, M Skinner.   

Abstract

A Turkish family is described with two members suffering from familial amyloidotic polyneuropathy. Their transthyretin genes were examined using the polymerase chain reaction, and both patients possessed the met30 mutation in both of their transthyretin genes. In this family, only individuals who are homozygous for the met30 mutation have developed symptoms.

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Year:  1990        PMID： 2174830     DOI： 10.1007/BF00205182

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


  4 in total

1.  Structure of the chromosomal gene for human serum prealbumin.

Authors:  H Sasaki; N Yoshioka; Y Takagi; Y Sakaki
Journal:  Gene       Date:  1985       Impact factor: 3.688

2.  A new mutation causing familial amyloidotic polyneuropathy.

Authors:  J C Skare; M J Saraiva; I L Alves; I B Skare; A Milunsky; A S Cohen; M Skinner
Journal:  Biochem Biophys Res Commun       Date:  1989-11-15       Impact factor: 3.575

3.  Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy.

Authors:  G Holmgren; E Haettner; I Nordenson; O Sandgren; L Steen; E Lundgren
Journal:  Clin Genet       Date:  1988-11       Impact factor: 4.438

4.  A new transthyretin variant from a patient with familial amyloidotic polyneuropathy has asparagine substituted for histidine at position 90.

Authors:  J C Skare; J M Milunsky; A Milunsky; I B Skare; A S Cohen; M Skinner
Journal:  Clin Genet       Date:  1991-01       Impact factor: 4.438
  4 in total
  8 in total

1.  A pedigree analysis with minimised ascertainment bias shows anticipation in Met30-transthyretin related familial amyloid polyneuropathy.

Authors:  K Yamamoto; S Ikeda; N Hanyu; S Takeda; N Yanagisawa
Journal:  J Med Genet       Date:  1998-01       Impact factor: 6.318

2.  Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.

Authors:  D R Jacobson; M Ittmann; J N Buxbaum; R Wieczorek; P D Gorevic
Journal:  Tex Heart Inst J       Date:  1997

Review 3.  Unifying features of systemic and cerebral amyloidosis.

Authors:  J Ghiso; T Wisniewski; B Frangione
Journal:  Mol Neurobiol       Date:  1994-02       Impact factor: 5.590

4.  Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate.

Authors:  G Holmgren; P M Costa; C Andersson; K Asplund; L Steen; L Beckman; P O Nylander; A Teixeira; M J Saraiva; P P Costa
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

5.  Homozygosity for the E526V Mutation in Fibrinogen A Alpha-Chain Amyloidosis: The First Report.

Authors:  Isabel Tavares; Luísa Lobato; Carlos Matos; Josefina Santos; Paul Moreira; Maria João Saraiva; António Castro Henriques
Journal:  Case Rep Nephrol       Date:  2015-06-23

6.  Haplotype analysis of common transthyretin mutations.

Authors:  M R Almeida; N Aoyama-Oishi; Y Sakaki; G Holmgren; D Ulf; A Ferlini; F Salvi; M Munar-Oués; M D Benson; M Skinner
Journal:  Hum Genet       Date:  1995-09       Impact factor: 4.132

7.  Modifications of transthyretin in amyloid fibrils: analysis of amyloid from homozygous and heterozygous individuals with the Met30 mutation.

Authors:  C Thylén; J Wahlqvist; E Haettner; O Sandgren; G Holmgren; E Lundgren
Journal:  EMBO J       Date:  1993-02       Impact factor: 11.598

Review 8.  Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP.

Authors:  Yesim Parman; David Adams; Laura Obici; Lucía Galán; Velina Guergueltcheva; Ole B Suhr; Teresa Coelho
Journal:  Curr Opin Neurol       Date:  2016-02       Impact factor: 5.710
  8 in total

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