Literature DB >> 10398231

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.

L E Siderius1, B C Hamel, H van Bokhoven, F de Jager, B van den Helm, H Kremer, J A Heineman-de Boer, H H Ropers, E C Mariman.   

Abstract

A family is described in which X-linked mild to borderline mental retardation (MR) is associated with cleft lip/palate. Linkage analysis showed a maximum LOD score of Z=2.78 at straight theta=0.0 for the DXS441 locus with flanking markers DXS337 and DXS990, defining the region Xp11.3-q21.3 with a linkage interval of 25 cM. Copyright 1999 Wiley-Liss, Inc.

Entities:  

Mesh：

Substances：

Year:  1999        PMID： 10398231

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  22 in total

1.  PHF8 targets histone methylation and RNA polymerase II to activate transcription.

Authors:  Klaus Fortschegger; Petra de Graaf; Nikolay S Outchkourov; Frederik M A van Schaik; H T Marc Timmers; Ramin Shiekhattar
Journal:  Mol Cell Biol       Date:  2010-04-26       Impact factor: 4.272

Review 2.  Erasing the methyl mark: histone demethylases at the center of cellular differentiation and disease.

Authors:  Paul A C Cloos; Jesper Christensen; Karl Agger; Kristian Helin
Journal:  Genes Dev       Date:  2008-05-01       Impact factor: 11.361

Review 3.  Genetic syndromes caused by mutations in epigenetic genes.

Authors:  María Berdasco; Manel Esteller
Journal:  Hum Genet       Date:  2013-01-31       Impact factor: 4.132

Review 4.  Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors.

Authors:  Laila C Schenkel; David Rodenhiser; Victoria Siu; Elizabeth McCready; Peter Ainsworth; Bekim Sadikovic
Journal:  J Pediatr Genet       Date:  2016-11-08

Review 5.  Plant homeodomain fingers form a helping hand for transcription.

Authors:  Klaus Fortschegger; Ramin Shiekhattar
Journal:  Epigenetics       Date:  2011-01-01       Impact factor: 4.528

6.  PHF8 activates transcription of rRNA genes through H3K4me3 binding and H3K9me1/2 demethylation.

Authors:  Weijun Feng; Masato Yonezawa; Jing Ye; Thomas Jenuwein; Ingrid Grummt
Journal:  Nat Struct Mol Biol       Date:  2010-03-07       Impact factor: 15.369

Review 7.  Disrupted intricacy of histone H3K4 methylation in neurodevelopmental disorders.

Authors:  Christina N Vallianatos; Shigeki Iwase
Journal:  Epigenomics       Date:  2015       Impact factor: 4.778

8.  PHF8, a gene associated with cleft lip/palate and mental retardation, encodes for an Nepsilon-dimethyl lysine demethylase.

Authors:  Christoph Loenarz; Wei Ge; Mathew L Coleman; Nathan R Rose; Christopher D O Cooper; Robert J Klose; Peter J Ratcliffe; Christopher J Schofield
Journal:  Hum Mol Genet       Date:  2009-10-19       Impact factor: 6.150

Review 9.  Malformations among the X-linked intellectual disability syndromes.

Authors:  Roger E Stevenson; Charles E Schwartz; R Curtis Rogers
Journal:  Am J Med Genet A       Date:  2013-09-24       Impact factor: 2.802

10.  The histone demethylase PHF8 is essential for cytoskeleton dynamics.

Authors:  Elena Asensio-Juan; Carme Gallego; Marian A Martínez-Balbás
Journal:  Nucleic Acids Res       Date:  2012-07-31       Impact factor: 16.971
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.