Literature DB >> 21667285

Anticipation in hereditary disease: the history of a biomedical concept.

Judith E Friedman1.   

Abstract

In the mid-nineteenth century, it was commonly believed that hereditary disease struck at the same time in succeeding generations, except for those cases in which it appeared at an earlier age. This exception to the rule was the precursor for the concept of anticipation in hereditary disease, a pattern of inheritance where a hereditary illness strikes earlier and often more severely in succeeding generations. Anticipation underwent cycles of acceptance and rejection over the course of the twentieth century and the ways in which this concept was received reveal complex interactions between science, medicine, and society.

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Year:  2011        PMID: 21667285     DOI: 10.1007/s00439-011-1022-9

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


  59 in total

1.  Congenital myotonic dystrophy in Britain. II. Genetic basis.

Authors:  P S Harper
Journal:  Arch Dis Child       Date:  1975-07       Impact factor: 3.791

2.  'The illusion of an explanation': the concept of hereditary disease, 1770-1870.

Authors:  John C Waller
Journal:  J Hist Med Allied Sci       Date:  2002-10       Impact factor: 2.088

3.  Social aspects of psychiatry; the importance of statistics.

Authors:  L S PENROSE
Journal:  J Ment Sci       Date:  1946-10

4.  Heredity and insanity.

Authors:  F W Mott
Journal:  Eugen Rev       Date:  1911-01

5.  Recombination and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis.

Authors:  R L Nussbaum; S D Airhart; D H Ledbetter
Journal:  Am J Med Genet       Date:  1986 Jan-Feb

6.  Autosomal suppressor gene for fragile-X: an hypothesis.

Authors:  M H Israel
Journal:  Am J Med Genet       Date:  1987-01

7.  Implications of fragile X expression in normal males for the nature of the mutation.

Authors:  D H Ledbetter; S A Ledbetter; R L Nussbaum
Journal:  Nature       Date:  1986 Nov 13-19       Impact factor: 49.962

8.  The marker (X) syndrome: a cytogenetic and genetic analysis.

Authors:  S L Sherman; N E Morton; P A Jacobs; G Turner
Journal:  Ann Hum Genet       Date:  1984-01       Impact factor: 1.670

9.  Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3' end of a transcript encoding a protein kinase family member.

Authors:  J D Brook; M E McCurrach; H G Harley; A J Buckler; D Church; H Aburatani; K Hunter; V P Stanton; J P Thirion; T Hudson
Journal:  Cell       Date:  1992-02-21       Impact factor: 41.582

10.  Genomic imprinting: a possible mechanism for the parental origin effect in Huntington's chorea.

Authors:  W Reik
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

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  7 in total

Review 1.  On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability.

Authors:  Alexandra N Khristich; Sergei M Mirkin
Journal:  J Biol Chem       Date:  2020-02-14       Impact factor: 5.157

Review 2.  The impact of family history on non-medullary thyroid cancer.

Authors:  I J Nixon; C Suárez; R Simo; A Sanabria; P Angelos; A Rinaldo; J P Rodrigo; L P Kowalski; D M Hartl; M L Hinni; J P Shah; A Ferlito
Journal:  Eur J Surg Oncol       Date:  2016-08-11       Impact factor: 4.424

Review 3.  RNA-binding protein misregulation in microsatellite expansion disorders.

Authors:  Marianne Goodwin; Maurice S Swanson
Journal:  Adv Exp Med Biol       Date:  2014       Impact factor: 2.622

Review 4.  A brief history of triplet repeat diseases.

Authors:  Helen Budworth; Cynthia T McMurray
Journal:  Methods Mol Biol       Date:  2013

Review 5.  Mutant Ataxin-3-Containing Aggregates (MATAGGs) in Spinocerebellar Ataxia Type 3: Dynamics of the Disorder.

Authors:  Kritika Raj; Ravi Shankar Akundi
Journal:  Mol Neurobiol       Date:  2021-02-24       Impact factor: 5.590

6.  Familial multiple sclerosis and association with other autoimmune diseases.

Authors:  Vanesa Pytel; Jordi A Matías-Guiu; Laura Torre-Fuentes; Paloma Montero; Álvaro Gómez-Graña; Rocío García-Ramos; Teresa Moreno-Ramos; Celia Oreja-Guevara; Miguel Fernández-Arquero; Ulises Gómez-Pinedo; Jorge Matías-Guiu
Journal:  Brain Behav       Date:  2017-12-19       Impact factor: 2.708

Review 7.  Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.

Authors:  Piergiorgio La Rosa; Sara Petrillo; Enrico Silvio Bertini; Fiorella Piemonte
Journal:  Biomolecules       Date:  2020-05-01
  7 in total

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