Research Topics
Genomes and Genes | Steffen LenznerSummaryAffiliation: Max Planck Institute for Molecular Genetics Country: Germany Publications
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Detail Information
Publications
Global gene expression analysis in a mouse model for Norrie disease: late involvement of photoreceptor cellsSteffen Lenzner
Max Planck Institute for Molecular Genetics, Berlin, Germany
Invest Ophthalmol Vis Sci 43:2825-33. 2002..In the current study, gene expression was determined in a mouse model of ND, to unravel disease-associated mechanisms at the molecular level...- X-linked mental retardation: a comprehensive molecular screen of 47 candidate genes from a 7.4 Mb interval in Xp11Lars Riff Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 15:68-75. 2007..We show that many of the studied genes are unlikely to play a major role in MRX. This information will help to avoid duplication of efforts in the ongoing endeavor to unravel the molecular causes of MRX... - A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndromeBartlomiej Budny
Max Planck Institute for Molecular Genetics, Ihnestr 73, 14195, Berlin, Germany
Hum Genet 120:171-8. 2006..This family broadens the phenotypic spectrum of OFD1 mutations in an unexpected way and sheds light on the complexity of the underlying disease mechanisms... - Novel JARID1C/SMCX mutations in patients with X-linked mental retardationAndreas Tzschach
Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Mutat 27:389. 2006..In contrast to other XLMR genes in which mutations were found only in single or very few families, JARID1C appears to be one of the more frequently mutated genes in this disorder... - SNP array-based homozygosity mapping reveals MCPH1 deletion in family with autosomal recessive mental retardation and mild microcephalyMasoud Garshasbi
Max Planck Institute for Molecular Genetics, Ihnestrasse 63-73, 14195 Berlin, Germany
Hum Genet 118:708-15. 2006..Therefore the phenotypic spectrum of MCPH1 mutations may be wider than previously assumed, with ARMR being the only consistent clinical finding... 
Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardationLars Riff Jensen
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 76:227-36. 2005..Our results suggest that JARID1C mutations are a relatively common cause of XLMR and that this gene might play an important role in human brain function...- Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Nat Genet 35:313-5. 2003..PQBP1 has previously been implicated in the pathogenesis of polyglutamine expansion diseases. Our findings link this gene to XLMR and shed more light on the pathogenesis of this common disorder... - CGHPRO -- a comprehensive data analysis tool for array CGHWei Chen
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
BMC Bioinformatics 6:85. 2005.... - Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardationKristine Freude
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 75:305-9. 2004..FTSJ1 protein is a homolog of Escherichia coli RNA methyltransferase FtsJ/RrmJ and may play a role in the regulation of translation. Further studies aim to elucidate the function of human FTSJ1 and its role during brain development... - Duplication of the MID1 first exon in a patient with Opitz G/BBB syndromeJennifer Winter
Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Genet 112:249-54. 2003..This duplication introduces a premature termination codon. In addition, we could significantly lower the threshold for mutation detection on the DNA level by combining SSCP analysis with DHPLC technology... - Voltage-dependent ion channels in the mouse RPE: comparison with Norrie disease miceGuido Wollmann
Institut fuer Klinische Physiologie, Charite Universitaetsmedizin Berlin, Campus Benjamin Franklin, Germany
Vision Res 46:688-98. 2006..Although no significant differences were observed, our study provides a base for future studies on ion channel function and dysfunction in transgenic mouse models... 
MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expressionSuzanna Gerarda Maria Frints
Department of Clinical Genetics, University Hospital azM Maastricht, Maastricht, The Netherlands
Eur J Hum Genet 16:1029-37. 2008....- Homozygosity mapping in consanguineous families reveals extreme heterogeneity of non-syndromic autosomal recessive mental retardation and identifies 8 novel gene lociHossein Najmabadi
Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran
Hum Genet 121:43-8. 2007..Our data suggest that in the Iranian population NS-ARMR is very heterogeneous, and they argue against the existence of frequent gene defects that account for more than a few percent of the cases... - Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortiumArjan P M de Brouwer
Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
Hum Mutat 28:207-8. 2007..Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers...