Literature DB >> 8411051

Is skewed X inactivation responsible for symptoms in female carriers for adrenoleucodystrophy?

E Watkiss1, T Webb, S Bundey.   

Abstract

A study of X inactivation in 12 female carriers for adrenoleucodystrophy showed no evidence that skewed patterns are related to clinical manifestation. Other possible mechanisms to explain manifestation in females are considered.

Mesh：

Year:  1993        PMID： 8411051      PMCID： PMC1016492          DOI： 10.1136/jmg.30.8.651

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  16 in total

1.  Adrenoleucodystrophy: a molecular genetic study in five families.

Authors:  R G Del Mastro; S Bundey; M W Kilpatrick
Journal:  J Med Genet       Date:  1990-11       Impact factor: 6.318

2.  Methylation patterns at the hypervariable X-chromosome locus DXS255 (M27 beta): correlation with X-inactivation status.

Authors:  Y Boyd; N J Fraser
Journal:  Genomics       Date:  1990-06       Impact factor: 5.736

3.  Differential methylation at the 5' and the 3' CCGG sites flanking the X chromosomal hypervariable DXS255 locus.

Authors:  R W Hendriks; M E Kraakman; R G Mensink; R K Schuurman
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

4.  Gonadal mosaicism in a family with adrenoleukodystrophy: molecular diagnosis of carrier status among daughters of a gonadal mosaic when direct detection of the mutation is not possible.

Authors:  G E Graham; P M MacLeod; D P Lillicrap; P J Bridge
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

5.  Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl.

Authors:  J T Clarke; W L Greer; P M Strasberg; R D Pearce; M A Skomorowski; P N Ray
Journal:  Am J Hum Genet       Date:  1991-08       Impact factor: 11.025

6.  Female haemophilia A in a family with seeming extreme bidirectional lyonization tendency: abnormal premature X-chromosome inactivation?

Authors:  J Ingerslev; M Schwartz; L U Lamm; T A Kruse; A Bukh; S Stenbjerg
Journal:  Clin Genet       Date:  1989-01       Impact factor: 4.438

7.  Skewed X inactivation in a female MZ twin results in Duchenne muscular dystrophy.

Authors:  C S Richards; S C Watkins; E P Hoffman; N R Schneider; I W Milsark; K S Katz; J D Cook; L M Kunkel; J M Cortada
Journal:  Am J Hum Genet       Date:  1990-04       Impact factor: 11.025

8.  Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27 beta.

Authors:  G de Saint Basile; L D Notarangelo; C Bonaiti-Pellié; M Doussau; O Prolini; I W Craig; A Ugazio; C Griscelli; A Fischer
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

Review 9.  The adrenoleukodystrophies.

Authors:  H W Moser; S Naidu; A J Kumar; A E Rosenbaum
Journal:  Crit Rev Neurobiol       Date:  1987

10.  Carrier detection in X-linked agammaglobulinemia by analysis of X-chromosome inactivation.

Authors:  E R Fearon; J A Winkelstein; C I Civin; D M Pardoll; B Vogelstein
Journal:  N Engl J Med       Date:  1987-02-19       Impact factor: 91.245
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  10 in total

1.  Mutational and protein analysis of patients and heterozygous women with X-linked adrenoleukodystrophy.

Authors:  V Feigenbaum; G Lombard-Platet; S Guidoux; C O Sarde; J L Mandel; P Aubourg
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

2.  No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers.

Authors:  R J Oostra; S Kemp; P A Bolhuis; E M Bleeker-Wagemakers
Journal:  Hum Genet       Date:  1996-04       Impact factor: 4.132

3.  X inactivation patterns in female monozygotic twins and their families.

Authors:  E Watkiss; T Webb; G Rysiecki; N Girdler; E Hewett; S Bundey
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

Review 4.  DNA diagnosis of X-linked adrenoleukodystrophy.

Authors:  S Seneca; W Lissens
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

Review 5.  Dosage Compensation in Females with X-Linked Metabolic Disorders.

Authors:  Patrycja Juchniewicz; Ewa Piotrowska; Anna Kloska; Magdalena Podlacha; Jagoda Mantej; Grzegorz Węgrzyn; Stefan Tukaj; Joanna Jakóbkiewicz-Banecka
Journal:  Int J Mol Sci       Date:  2021-04-26       Impact factor: 5.923

6.  Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms.

Authors:  Ettore Salsano; Silvia Tabano; Silvia M Sirchia; Patrizia Colapietro; Barbara Castellotti; Cinzia Gellera; Marco Rimoldi; Viviana Pensato; Caterina Mariotti; Davide Pareyson; Monica Miozzo; Graziella Uziel
Journal:  Orphanet J Rare Dis       Date:  2012-01-26       Impact factor: 4.123

Review 7.  The genetic landscape of X-linked adrenoleukodystrophy: inheritance, mutations, modifier genes, and diagnosis.

Authors:  Christoph Wiesinger; Florian S Eichler; Johannes Berger
Journal:  Appl Clin Genet       Date:  2015-05-02

8.  Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy: a case control study on a clinical, neurophysiological and biochemical characteristics.

Authors:  Clarissa Troller Habekost; Pedro Schestatsky; Vitor Felix Torres; Daniella Moura de Coelho; Carmen Regla Vargas; Vitor Torrez; Jean Pierre Oses; Luis Valmor Portela; Fernanda dos Santos Pereira; Ursula Matte; Laura Bannach Jardim
Journal:  Orphanet J Rare Dis       Date:  2014-01-13       Impact factor: 4.123

9.  X-linked adrenoleukodystrophy caused by maternal ABCD1 mutation and paternal X chromosome inactivation.

Authors:  Zhen Li; Guangrui Lai
Journal:  Exp Ther Med       Date:  2022-07-12       Impact factor: 2.751

10.  Familial skewed x chromosome inactivation in adrenoleukodystrophy manifesting heterozygotes from a Chinese pedigree.

Authors:  Zhihong Wang; Aizhen Yan; Yuxiang Lin; Haihua Xie; Chunyan Zhou; Fenghua Lan
Journal:  PLoS One       Date:  2013-03-01       Impact factor: 3.240
  10 in total

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