Literature DB >> 15811016

Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation.

M Fichera, M Falco, M Lo Giudice, L Castiglia, V Guarnaccia, F Calì, A Spalletta, C Scuderi, E Avola.   

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Year:  2005        PMID： 15811016     DOI： 10.1111/j.1399-0004.2005.00436.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  3 in total

Review 1.  Epigenetic principles and mechanisms underlying nervous system functions in health and disease.

Authors:  Mark F Mehler
Journal:  Prog Neurobiol       Date:  2008-10-17       Impact factor: 11.685

Review 2.  PQBP1: The Key to Intellectual Disability, Neurodegenerative Diseases, and Innate Immunity.

Authors:  Hikari Tanaka; Hitoshi Okazawa
Journal:  Int J Mol Sci       Date:  2022-06-02       Impact factor: 6.208

3.  In utero gene therapy rescues microcephaly caused by Pqbp1-hypofunction in neural stem progenitor cells.

Authors:  H Ito; H Shiwaku; C Yoshida; H Homma; H Luo; X Chen; K Fujita; L Musante; U Fischer; S G M Frints; C Romano; Y Ikeuchi; T Shimamura; S Imoto; S Miyano; S-i Muramatsu; T Kawauchi; M Hoshino; M Sudol; A Arumughan; E E Wanker; T Rich; C Schwartz; F Matsuzaki; A Bonni; V M Kalscheuer; H Okazawa
Journal:  Mol Psychiatry       Date:  2014-07-29       Impact factor: 15.992
  3 in total

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