Research Topics
Genomes and Genes | Vera M KalscheuerSummaryAffiliation: Max Planck Institute for Molecular Genetics Country: Germany Publications
| Collaborators
|
Detail Information
Publications
Mutation screening of ASMT, the last enzyme of the melatonin pathway, in a large sample of patients with intellectual disabilityCecile Pagan
Human Genetics and Cognitive Functions, Institut Pasteur, Paris, France
BMC Med Genet 12:17. 2011..Thus the aim of the study was to ascertain the genetic variability of ASMT in a large cohort of patients with ID and controls...- A new standard nomenclature for proteins related to Apx and ShroomOlivier Hagens
Dept of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
BMC Cell Biol 7:18. 2006..At present these proteins are named Shroom, APX, APXL, and KIAA1202. In light of the growing interest in this family of proteins, we propose here a new standard nomenclature... - A balanced chromosomal translocation disrupting ARHGEF9 is associated with epilepsy, anxiety, aggression, and mental retardationVera M Kalscheuer
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Hum Mutat 30:61-8. 2009..These results suggest that collybistin has a key role in membrane trafficking of gephyrin and selected GABA(A) receptor subtypes involved in epilepsy, anxiety, aggression, insomnia, and learning and memory... 
Mutations in autism susceptibility candidate 2 (AUTS2) in patients with mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 121:501-9. 2007....- 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... - Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 72:1401-11. 2003.... 
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndromeVera M Kalscheuer
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Med Genet A 146:2053-9. 2008..Thus, the possibility exists that more patients with a less severe encephalopathy carry a mutation in this gene...- Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen
Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 19:717-20. 2011..For four mutations affecting ATRX (p.1761M>T), PQBP1 (p.155R>X) and SLC6A8 (p.390P>L and p.477S>L), we provide evidence for a functional involvement of these changes in the aetiology of intellectual disability... - Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardationSarah A Shoichet
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 73:1341-54. 2003..Our results suggest that ZNF41 is critical for cognitive development; further studies aim to elucidate the specific mechanisms by which ZNF41 alterations lead to MR... - Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationJiong Tao
Max Planck Institute for Molecular Genetics, Berlin, Germany
Am J Hum Genet 75:1149-54. 2004..In view of the overlapping phenotypic spectrum of CDKL5 and MECP2 mutations, it is tempting to speculate that these two genes play a role in a common pathogenic process... - 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... - Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephalySarah A Shoichet
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195 Berlin, Germany
Hum Genet 117:536-44. 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... - Common pathological mutations in PQBP1 induce nonsense-mediated mRNA decay and enhance exclusion of the mutant exonLuciana Musante
Max Planck Institute for Molecular Genetics, D 14195 Berlin, Germany
Hum Mutat 31:90-8. 2010..Our study provides significant insight into the early events contributing to the pathogenesis of the PQBP1 related XLMR disease... - Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndromeIsabella Borg
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 13:921-7. 2005..Our results suggest that the central nervous system is sensitive to NTNG1 expression levels and that NTNG1 is a novel candidate disease gene for RTT... - Truncation of the CNS-expressed JNK3 in a patient with a severe developmental epileptic encephalopathySarah A Shoichet
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, 14195, Berlin, Germany
Hum Genet 118:559-67. 2006..These interactions are likely affected by a truncated JNK3 protein, and thereby provide an explanation for the link between alterations in MAP kinase signal transduction and brain disorders... - cDNA cloning and characterization of the human THRAP2 gene which maps to chromosome 12q24, and its mouse ortholog Thrap2Luciana Musante
Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
Gene 332:119-27. 2004..This complex is involved in transcriptional regulation and is believed to serve as adapting interface between regulatory proteins bound to specific DNA sequences and RNA polymerase II... - Breakpoint analysis of balanced chromosome rearrangements by next-generation paired-end sequencingWei Chen
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 18:539-43. 2010..Our results show the feasibility of paired-end sequencing of systematic breakpoint mapping and gene finding in patients with disease-associated chromosome rearrangements... - Characterisation of de novo MAPK10/JNK3 truncation mutations associated with cognitive disorders in two unrelated patientsStella Amrei Kunde
Neuroscience Research Center, Charité CrossOver, Charite Universitaetsmedizin Berlin, Campus Mitte, Chariteplatz 1, 10117 Berlin, Germany
Hum Genet 132:461-71. 2013..We conclude that reduced JNK3 activity has potentially deleterious effects on neuronal function via altered regulation of a set of post-synaptic proteins... - Chromosome aberrations involving 10q22: report of three overlapping interstitial deletions and a balanced translocation disrupting C10orf11Andreas Tzschach
Department Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 18:291-5. 2010..This finding suggests that haploinsufficiency of C10orf11 contributes to the cognitive defects in 10q22 deletion patients... - Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndromeLuciana Musante
Max Planck Institute for Molecular Genetics, Berlin, Germany
Eur J Hum Genet 11:201-6. 2003..Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS... - Unexpected identification of two interstitial deletions in a patient with a pericentric inversion of a chromosome 4 and an abnormal phenotypeGiovanna Piovani
Biology and Genetics Division, Department of Biomedical Sciences and Biotechnology, University of Brescia, Viale Europa 11, 25123 Brescia, Italy
Eur J Med Genet 49:215-23. 2006..Bioinformatic analysis of the human genome sequence allowed us to identify several hemizygotic genes in the patient, which might be involved in the pathogenesis of this clinical phenotype... - In-frame deletion in MECP2 causes mild nonspecific mental retardationHelger G Yntema
Am J Med Genet 107:81-3. 2002 - Chromosomal translocation t(18;21)(q23;q22.1) indicates novel susceptibility loci for frontotemporal dementia with ALSJohannes Prudlo
Department of Neurology, University Hospital, Homburg Saar, Germany
Ann Neurol 55:134-8. 2004..1. The breakpoints are assigned to sequences flanked by the markers ATA1H06, D18S462, D21S1915, and D21S1898. These critical regions may contain susceptibility loci for FTD associated with ALS... - Truncation of the Down syndrome candidate gene DYRK1A in two unrelated patients with microcephalyRikke S Møller
Wilhelm Johannsen Centre for Functional Genome Research, Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3, 2200 Copenhagen N, Denmark
Am J Hum Genet 82:1165-70. 2008..In the present study, we show that truncating mutations of DYRK1A result in a clinical phenotype including microcephaly... - Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patientsChayim Can Schell-Apacik
Institute of Social Pediatrics and Adolescent Medicine of the University of Munich, Munchen, Germany
Am J Med Genet A 146:2501-11. 2008..In our series of cases a variety of genetic causes of disorders of the corpus callosum were identified with cytogenetic anomalies representing the most common underlying etiology... - 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... - Evidence for a new contiguous gene syndrome, the chromosome 16p13.3 deletion syndrome alias severe Rubinstein-Taybi syndromeOliver Bartsch
Institute for Human Genetics, Mainz University School of Medicine, 55101, Mainz, Germany
Hum Genet 120:179-86. 2006..Further studies are needed to delineate the clinical spectrum of the new disorder and to clarify the role of DNASE1... - Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansMette Gilling
Wilhelm Johannsen Center for Functional Genome Research, University of Copenhagen, Copenhagen
Am J Hum Genet 78:878-83. 2006..Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans...