Literature DB >> 17026626

A novel mutation in BAP/SIL1 gene causes Marinesco-Sjögren syndrome in an extended pedigree.

M A Karim, A J Parsian, M A Cleves, J Bracey, M S Elsayed, E Elsobky, A Parsian.   

Abstract

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Year:  2006        PMID： 17026626     DOI： 10.1111/j.1399-0004.2006.00695.x

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


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  5 in total

1.  C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome.

Authors:  Jennifer Howes; Yuichiro Shimizu; Matthias J Feige; Linda M Hendershot
Journal:  J Biol Chem       Date:  2012-01-04       Impact factor: 5.157

Review 2.  Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.

Authors:  Conrad C Weihl; Alan Pestronk; Virginia E Kimonis
Journal:  Neuromuscul Disord       Date:  2009-04-19       Impact factor: 4.296

3.  Novel SIL1 mutations in consanguineous Pakistani families mapping to chromosomes 5q31.

Authors:  S Amer Riazuddin; Laleh Amiri-Kordestani; Haiba Kaul; Tariq Butt; Xiaodong Jiao; Sheikh Riazuddin; J Fielding Hejtmancik
Journal:  Mol Vis       Date:  2009-05-22       Impact factor: 2.367

4.  SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.

Authors:  Yutaka Inaguma; Nanako Hamada; Hidenori Tabata; Ikuko Iwamoto; Makoto Mizuno; Yoshiaki V Nishimura; Hidenori Ito; Rika Morishita; Motomasa Suzuki; Kinji Ohno; Toshiyuki Kumagai; Koh-ichi Nagata
Journal:  EMBO Mol Med       Date:  2014-01-28       Impact factor: 12.137

5.  SIL1 functions as an oncogene in glioma by AKT/mTOR signaling pathway.

Authors:  Hao Xu; Shangchen Xu; Rui Zhang; Tao Xin; Qi Pang
Journal:  Onco Targets Ther       Date:  2018-07-02       Impact factor: 4.147
  5 in total

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