Literature DB >> 1358785

Transthyretin Pro 36 associated with familial amyloidotic polyneuropathy in an Ashkenazic Jewish kindred.

D R Jacobson1, C J Rosenthal, J N Buxbaum.   

Abstract

Mutations in the serum protein transthyretin (TTR) cause amyloidosis involving the peripheral nerves, heart, and other organs. In Ashkenazic Jews, the only TTR variant described to date has been TTR Ile 33. We have studied DNA from another Ashkenazic Jewish kindred with familial amyloidotic polyneuropathy. Single-strand conformation polymorphism analysis, DNA sequencing, and restriction analysis indicated that this kindred has the TTR Pro 36 variant, previously described only in a Greek kindred.

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Year:  1992        PMID： 1358785     DOI： 10.1007/bf00210764

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


  7 in total

Review 1.  Genetic aspects of amyloidosis.

Authors:  D R Jacobson; J N Buxbaum
Journal:  Adv Hum Genet       Date:  1991

Review 2.  The mutational spectrum of single base-pair substitutions causing human genetic disease: patterns and predictions.

Authors:  D N Cooper; M Krawczak
Journal:  Hum Genet       Date:  1990-06       Impact factor: 4.132

3.  Haplotype analysis of familial amyloidotic polyneuropathy. Evidence for multiple origins of the Val----Met mutation most common to the disease.

Authors:  K Yoshioka; H Furuya; H Sasaki; M J Saraiva; P P Costa; Y Sakaki
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

4.  Revised analysis of amino acid replacement in a prealbumin variant (SKO-III) associated with familial amyloidotic polyneuropathy of Jewish origin.

Authors:  M Nakazato; K Kangawa; N Minamino; S Tawara; H Matsuo; S Araki
Journal:  Biochem Biophys Res Commun       Date:  1984-09-28       Impact factor: 3.575

5.  Transthyretin Pro55, a variant associated with early-onset, aggressive, diffuse amyloidosis with cardiac and neurologic involvement.

Authors:  D R Jacobson; D E McFarlin; I Kane; J N Buxbaum
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

6.  Proline at position 36: a new transthyretin mutation associated with familial amyloidotic polyneuropathy.

Authors:  L A Jones; J C Skare; J A Harding; A S Cohen; A Milunsky; M Skinner
Journal:  Am J Hum Genet       Date:  1991-05       Impact factor: 11.025

7.  Restriction fragment analysis confirms the position 33 mutation in transthyretin from an Israeli patient (SKO) with familial amyloidotic polyneuropathy.

Authors:  D R Jacobson; F Santiago-Schwartz; J N Buxbaum
Journal:  Biochem Biophys Res Commun       Date:  1988-05-31       Impact factor: 3.575
  7 in total
  1 in total

1.  Cardiac denervation evidenced by MIBG occurs earlier than amyloid deposits detection by diphosphonate scintigraphy in TTR mutation carriers.

Authors:  Eve Piekarski; Renata Chequer; Vincent Algalarrondo; Ludivine Eliahou; Besma Mahida; Jonathan Vigne; David Adams; Michel S Slama; Dominique Le Guludec; Francois Rouzet
Journal:  Eur J Nucl Med Mol Imaging       Date:  2018-03-06       Impact factor: 9.236
  1 in total

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