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Literature DB >> 8630485

XNP mutation in a large family with Juberg-Marsidi syndrome.

L Villard, J Gecz, J F Mattéi, M Fontés, P Saugier-Veber, A Munnich, S Lyonnet.

Abstract

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 1996 PMID： 8630485 DOI： 10.1038/ng0496-359

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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20 in total

1. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.

Authors: Jeremy Schwartzentruber; Andrey Korshunov; Xiao-Yang Liu; David T W Jones; Elke Pfaff; Karine Jacob; Dominik Sturm; Adam M Fontebasso; Dong-Anh Khuong Quang; Martje Tönjes; Volker Hovestadt; Steffen Albrecht; Marcel Kool; Andre Nantel; Carolin Konermann; Anders Lindroth; Natalie Jäger; Tobias Rausch; Marina Ryzhova; Jan O Korbel; Thomas Hielscher; Peter Hauser; Miklos Garami; Almos Klekner; Laszlo Bognar; Martin Ebinger; Martin U Schuhmann; Wolfram Scheurlen; Arnulf Pekrun; Michael C Frühwald; Wolfgang Roggendorf; Christoph Kramm; Matthias Dürken; Jeffrey Atkinson; Pierre Lepage; Alexandre Montpetit; Magdalena Zakrzewska; Krzystof Zakrzewski; Pawel P Liberski; Zhifeng Dong; Peter Siegel; Andreas E Kulozik; Marc Zapatka; Abhijit Guha; David Malkin; Jörg Felsberg; Guido Reifenberger; Andreas von Deimling; Koichi Ichimura; V Peter Collins; Hendrik Witt; Till Milde; Olaf Witt; Cindy Zhang; Pedro Castelo-Branco; Peter Lichter; Damien Faury; Uri Tabori; Christoph Plass; Jacek Majewski; Stefan M Pfister; Nada Jabado
Journal: Nature Date: 2012-01-29 Impact factor: 49.962

2. Kinases and chromatin structure: who regulates whom?

Authors: Benoit Miotto
Journal: Epigenetics Date: 2013-08-05 Impact factor: 4.528

3. Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons.

Authors: Xuetao Sun; Tatiana Morozova; Margaret Sonnenfeld
Journal: Genetics Date: 2006-04-28 Impact factor: 4.562

XNP mutation in a large family with Juberg-Marsidi syndrome.

1. Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma.

2. Kinases and chromatin structure: who regulates whom?

3. Glial and neuronal functions of the Drosophila homolog of the human SWI/SNF gene ATR-X (DATR-X) and the jing zinc-finger gene specify the lateral positioning of longitudinal glia and axons.

4. Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome.

5. α-Thalassemia, mental retardation, and myelodysplastic syndrome.

6. The chromatin-remodeling protein ATRX is critical for neuronal survival during corticogenesis.

7. Characterisation and genetic mapping of a new X linked deafness syndrome.

8. ATR-X mutations cause impaired nuclear location and altered DNA binding properties of the XNP/ATR-X protein.

Review 9. Fruit flies and intellectual disability.

Review 10. The role of genetics in the establishment and maintenance of the epigenome.