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Literature DB >> 15565397

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

Ilse Wieland, Julia Sabathil, Anne Ostendorf, Olaf Rittinger, Albrecht Röpke, Birgitta Winnepenninckx, Frank Kooy, Elke Holinski-Feder, Peter Wieacker.

Abstract

Entities: Disease Gene Mutation

Mesh：

Year: 2005 PMID： 15565397 DOI： 10.1007/s10048-004-0190-3

Source DB: PubMed Journal: Neurogenetics ISSN： 1364-6745 Impact factor: 2.660

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6 in total

1. X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

Authors: H G Yntema; B van den Helm; N V Knoers; A P Smits; T van Roosmalen; D F Smeets; E C Mariman; I van der Burgt; H van Bokhoven; H H Ropers; H Kremer; B C Hamel
Journal: Am J Med Genet Date: 1999-07-30

2. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

Authors: A M Lossi; J M Millán; L Villard; C Orellana; C Cardoso; F Prieto; M Fontés; F Martínez
Journal: Am J Hum Genet Date: 1999-08 Impact factor: 11.025

3. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.

Authors: Yutong Xue; Richard Gibbons; Zhijiang Yan; Dafeng Yang; Tarra L McDowell; Salvatore Sechi; Jun Qin; Sharleen Zhou; Doug Higgs; Weidong Wang
Journal: Proc Natl Acad Sci U S A Date: 2003-09-02 Impact factor: 11.205

1 in total

1. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Authors: Birgitta Winnepenninckx; Kim Debacker; Jacqueline Ramsay; Dominique Smeets; Arie Smits; David R FitzPatrick; R Frank Kooy
Journal: Am J Hum Genet Date: 2006-12-12 Impact factor: 11.025

1 in total

A missense mutation in the coiled-coil motif of the HP1-interacting domain of ATR-X in a family with X-linked mental retardation.

1. X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

2. Mutation of the XNP/ATR-X gene in a family with severe mental retardation, spastic paraplegia and skewed pattern of X inactivation: demonstration that the mutation is involved in the inactivation bias.

3. The ATRX syndrome protein forms a chromatin-remodeling complex with Daxx and localizes in promyelocytic leukemia nuclear bodies.

Review 4. Molecular-clinical spectrum of the ATR-X syndrome.

5. Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains.

6. Determination of the genomic structure of the XNP/ATRX gene encoding a potential zinc finger helicase.

1. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.