Genomes and Genes
Affiliation: Humboldt University
- Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutationMarkus Schuelke
Department Neuropediatrics, Charite University Hospital, Berlin, Germany
Ann Neurol 51:388-92. 2002..A HESX1 mutation was excluded as a cause of his septo-optic dysplasia. Low alpha-tocopherol concentrations in his muscles and an elevated urinary leukotriene E(4) excretion indicate increased production of reactive oxygen species...
- Tandem duplication of DMD exon 18 associated with epilepsy, macroglossia, and endocrinologic abnormalitiesClaudia Weiss
Department of Neuropediatrics, Charite University Medical Center, Augustenburger Platz 1, D 13353 Berlin, Germany
Muscle Nerve 35:396-401. 2007..In conclusion, we present a case of DMD that conflicts with current understanding of genotype-phenotype relations and discuss putative pathogenetic mechanisms for this uncommon phenotype...
- HomozygosityMapper--an interactive approach to homozygosity mappingDominik Seelow
Department of Neuropaediatrics, Charite Universitatsmedizin Berlin, Augustenburger Platz 1, D 13353 Berlin, Germany
Nucleic Acids Res 37:W593-9. 2009..They can at any point restrict access to their data or make it public, allowing HomozygosityMapper to be used as a data repository for homozygosity-mapping studies. HomozygosityMapper is available at http://www.homozygositymapper.org/...
- A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.Ellen Knierim
Hum Genet 136:903-910. 2017..More patients have to be described to confirm the triad of congenital myopathy, neuropathy and deafness as the defining symptom complex for Î²IV-spectrin deficiency...
- Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4) due to PTRF-CAVIN mutationsAnna Rajab
Genetics Unit, Ministry of Health, Directorate General of Health Affairs, Royal Hospital, Muscat, Oman
PLoS Genet 6:e1000874. 2010..The loss of caveolae was confirmed by Atomic Force Microscopy (AFM) in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae...
- Regionalized pathology correlates with augmentation of mtDNA copy numbers in a patient with myoclonic epilepsy with ragged-red fibers (MERRF-syndrome)Anja Brinckmann
Department of Neuropediatrics, Charite University Medical School, Berlin, Germany
PLoS ONE 5:e13513. 2010..We thus conclude that "futile" stimulation of mtDNA replication per se or a secondary failure to increase the mitochondrial mass may contribute to the regionalized pathology seen in MERRF-syndrome...
- Region-specific expression of mitochondrial complex I genes during murine brain developmentStefanie Wirtz
Department of Neuropediatrics, NeuroCure Clinical Research Centre, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS ONE 6:e18897. 2011..However, with the exception of the mesencephalon, we detected only average complex I expression levels in the striatum and basal ganglia, which does not explain the exquisite vulnerability of these structures in mitochondrial disorders...
- Systematic comparison of three methods for fragmentation of long-range PCR products for next generation sequencingEllen Knierim
NeuroCure Clinical Research Center NCRC, Charite Universitatsmedizin Berlin, Berlin, Germany
PLoS ONE 6:e28240. 2011..As the overall performance of all three methods was equal with only minor differences, a fragmentation method can be chosen solely according to lab facilities, feasibility and experimental design...
- CNVinspector: a web-based tool for the interactive evaluation of copy number variations in single patients and in cohortsEllen Knierim
NeuroCure Clinical Research Center, Berlin, Germany
J Med Genet 50:529-33. 2013..Hence, we set out to create software that accumulates and visualises locus-specific knowledge and enables clinicians to study their own CNVs in the context of known polymorphisms and disease variants...
- CARbon DIoxide for the treatment of Febrile seizures: rationale, feasibility, and design of the CARDIF-studyStephanie Ohlraun
NeuroCure Clinical Research Center, Charite Universitatsmedizin Berlin, Berlin, Germany
J Transl Med 11:157. 2013..Here, we present the protocol for an interventional clinical trial to test the hypothesis that the application of 5% CO2 is effective and safe to suppress febrile seizures in children...
- An economic method for the fluorescent labeling of PCR fragmentsM Schuelke
Department of Neuropediatrics, Charite University Hospital, Augustenburger Platz 1, D 13353 Berlin, Germany
Nat Biotechnol 18:233-4. 2000..A poor man's approach to genotyping for research and high-throughput diagnostics...
- Ataxia with vitamin E deficiency: biochemical effects of malcompliance with vitamin E therapyM Schuelke
Department of Neuropediatrics Charité, Humboldt University, Berlin, Germany
Neurology 55:1584-6. 2000....
- New nuclear encoded mitochondrial mutation illustrates pitfalls in prenatal diagnosis by biochemical methodsMarkus Schuelke
Department of Neuropediatrics, Charité Virchow University Hospital, Augustenburger Platz 1, D 13353 Berlin, Germany
Clin Chem 48:772-5. 2002
- Myostatin mutation associated with gross muscle hypertrophy in a childMarkus Schuelke
Department of Neuropediatrics, Charite, University Medical Center Berlin, Berlin, Germany
N Engl J Med 350:2682-8. 2004
- Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophyB Kerst
Department of Neuropaediatrics, Humboldt University, Charite, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Neuromuscul Disord 10:572-7. 2000..This mutation is normally associated with a mild to moderate course of Becker muscular dystrophy but the father suffered from a severe course of Becker muscular dystrophy suggesting MYF6 as a modifier...
- Analysis of mitochondrial DNA in discordant monozygotic twins with neurofibromatosis type 1Anne Katrin Detjen
Department of Neuropediatrics, Charite, University Medical Center, Berlin, Germany
Twin Res Hum Genet 10:486-95. 2007..The phenotypic discordance of MZ twins with NF1 cannot be explained by skewed distribution of mtDNA mutations or polymorphisms...
- [Distal spinal-muscular atrophy 1 (DSMA1 or SMARD1)]A M Kaindl
Charite, Service de Neuropediatrie, Hopital Universitaire, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Allemagne
Arch Pediatr 15:1568-72. 2008....
- Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1K Grohmann
Department of Neuropediatrics, Charite, Campus Virchow Klinikum, Humboldt University, 13353 Berlin, Germany
Nat Genet 29:75-7. 2001..Our results show that IGHMBP2 is the second gene found to be defective in spinal muscular atrophy, and indicate that IGHMBP2 and SMN share common functions important for motor neuron maintenance and integrity in mammals...
- Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiencyM Schuelke
Charite University Hospital, Department of Neuropediatrics, Clinic of Child and Adolescent Psychiatry, Psychosomatic and Psychotherapy, Berlin, Germany
J Pediatr 134:240-4. 1999..After initiation of high-dosage alpha-tocopherol therapy, the organic mental syndrome disappeared and cognitive function improved rapidly. Neurologic recovery, however, was slow and incomplete...
- Increased mRNA expression of tissue inhibitors of metalloproteinase-1 and -2 in Duchenne muscular dystrophyArpad von Moers
Department of Neuropediatrics, Charite, University Medical Center Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
Acta Neuropathol 109:285-93. 2005..TIMP-1 should be investigated further as a promising target for pharmacological intervention to prevent muscle fibrosis in DMD...
- GeneDistiller--distilling candidate genes from linkage intervalsDominik Seelow
Department of Neuropaediatrics, Charite University Medical School, Berlin, Germany
PLoS ONE 3:e3874. 2008..Automatic solutions on the other hand usually focus on certain models, remain "black boxes" and do not offer the same degree of flexibility...
- Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletionAlmut Giese
Department of Pediatric Oncology Hematology, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Berlin, Germany
Am J Med Genet A 143:285-8. 2007
- Detection of novel NF1 mutations and rapid mutation prescreening with PyrosequencingAnja Brinckmann
Department of Neuropediatrics, Charite University Medical School, Berlin, Germany
Electrophoresis 28:4295-301. 2007..Diagnostic laboratories could thus exploit this effect for rapid prescreening for NF1 mutations as more than 60% of the mutations in this gene disrupt the reading frame and are prone to NMD...
- Mutation screening of neurofibromatosis type 1 (NF1) exons 28 and 29 with single strand conformation polymorphism (SSCP): five novel mutations, one recurrent transition and two polymorphisms in a panel of 118 unrelated NF1 patients. Mutations in brief no.H Peters
Institute of Medical Genetics, Humboldt University, Medical School Charite, Berlin, Germany
Hum Mutat 13:258. 1999..This question was given consideration in this investigation, but none of the children involved have yet shown any symptoms of myeloid leukemia. 4 out of the 6 mutations were de novo...
- Muscle and nerve pathology in Dunnigan familial partial lipodystrophyS Spuler
Muscle Research Group, Department of Neurology, Medical Faculty of the Charite, Berlin, Germany
Neurology 68:677-83. 2007..To characterize muscle and nerve pathology in Dunnigan familial partial lipodystrophy (FPLD)...
- Protracted course of juvenile ceroid lipofuscinosis associated with a novel CLN3 mutation (p.Y199X)A Sarpong
Department of Neuropediatrics, University Medical School Berlin, Berlin, Germany
Clin Genet 76:38-45. 2009..We discuss a potential residual catalytic function of the truncated protein as a cause for the mild phenotype...
- De novo double mutation in PAX6 and mtDNA tRNA(Lys) associated with atypical aniridia and mitochondrial diseaseAnja Brinckmann
Department of Biology, Chemistry and Pharmacy, Free University Berlin, Berlin, Germany
J Mol Med (Berl) 85:163-8. 2007..The degree of mutant mtDNA heteroplasmy, as determined by a very accurate pyrosequencing assay, varies between 31% (muscle) and 38% (fibroblasts). We discuss a potential effect of the PAX6 mutation on the mtDNA mutation rate...
- Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile diseaseUlf Peter Guenther
Department of Neuropediatrics, Charité University Medical School of Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
J Mol Med (Berl) 87:31-41. 2009..Our data further suggest that the age of onset of DSMA1 is variable, and we discuss the effect of residual IGHMBP2 protein levels on the clinical course and the severity of the disease...
- Comparative analysis of uncoupling protein 4 distribution in various tissues under physiological conditions and during developmentAlina Smorodchenko
Institute of Cell Biology and Neurobiology, Charite Universitatsmedizin, Berlin, Germany
Biochim Biophys Acta 1788:2309-19. 2009..UCP4 preferential expression in neurons and its developmental expression pattern under physiological conditions may indicate a specific protein function, e.g. in neuronal cell differentiation...
- Genetic deafness in a preterm infant with a critical postnatal coursePetra S Koehne
Department of Neonatology, Charite, Campus Virchow Klinikum, Humboldt University, Berlin, Germany
Pediatr Crit Care Med 7:270-2. 2006..We describe the severe postnatal course and review the relevant literature...
- Recurrent stroke due to a novel voltage sensor mutation in Cav2.1 responds to verapamilEllen Knierim
Department of Neuropediatrics, Charite Universitatsmedizin Berlin, D 13353 Berlin, Germany
Stroke 42:e14-7. 2011..Treatment was instantly effective and prevented a new stroke...
- Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like diseaseBirgit Uhlenberg
Department of Neuropediatrics, Charite, University Medical School of Berlin, Berlin, Germany
Am J Hum Genet 75:251-60. 2004..In this study, we demonstrate that GJA12 plays a key role in central myelination and is involved in peripheral myelination in humans...
- Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulationMonika B Hartig
Institute of Human Genetics, GSF National Research Center for Environment and Health, Neuherberg, Germany
Ann Neurol 59:248-56. 2006..Both missense and nonsense mutations have been found in such patients in a gene encoding the mitochondrial pantothenate kinase (PANK2)...
- Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysisUlf Peter Guenther
Department of Biology, Chemistry, and Pharmacy, Free University of Berlin, Germany
Hum Mutat 28:808-15. 2007..The c.1235+3A>G splice-site mutation did not entirely suppress correct splicing and we found a residual wild-type IGHMBP2 mRNA steady-state level of 24.4+/-6.9%, which was, however, not sufficient to avert SMARD1 in this patient...
- Localization of alpha-tocopherol transfer protein in trophoblast, fetal capillaries' endothelium and amnion epithelium of human term placentaKatrin Müller-Schmehl
Germany Institute of Human Nutrition, Potsdam Rehbrucke, Germany
Free Radic Res 38:413-20. 2004..In amnion epithelial cells, however, TTPA was predominantly located in the nuclei. Nuclear localization of the protein may represent a novel function of TTPA...
- Lack of myostatin results in excessive muscle growth but impaired force generationHelge Amthor
Department of Paediatrics, University Hospital of Essen, Essen, Germany
Proc Natl Acad Sci U S A 104:1835-40. 2007..Overall, our results suggest that lack of myostatin compromises force production in association with loss of oxidative characteristics of skeletal muscle...
- Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidateTomasz Zemojtel
Department of Computational Molecular Biology, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D 14195 Berlin, Germany
FEBS Lett 580:455-62. 2006..The expression data suggest that a candidate for mammalian mitochondrial nitric oxide synthase contributes to multiple physiological processes during embryogenesis, which may include roles in liver haematopoesis and bone development...
- A new mutation of IGHMBP2 geneUlf P Guenther
Pediatr Neurol 34:168. 2006
- The spectrum of WRN mutations in Werner syndrome patientsShurong Huang
Department of Pathology, University of Washington, Seattle, Washington 98195 7470, USA
Hum Mutat 27:558-67. 2006..These, as well as inducible and complemented hTERT (catalytic subunit of human telomerase) immortalized skin fibroblast cell lines are available to qualified investigators...
- Identification of small non-coding RNAs from mitochondria and chloroplastsBirgit Lung
Innsbruck Biocenter, Division of Genomics and RNomics, Innsbruck Medical University, Fritz Pregl Strasse 3, 6020 Innsbruck, Austria
Nucleic Acids Res 34:3842-52. 2006..The absence from our libraries of abundant small RNA species that are not encoded by the organellar genomes suggests that the import of RNAs into cell organelles is of very limited significance or does not occur at all...
- Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutationsLuis Carlos López
Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Am J Hum Genet 79:1125-9. 2006..This is the first description of pathogenic mutations in PDSS2 and confirms the molecular and clinical heterogeneity of primary CoQ(10) deficiency...
- Familial glucocorticoid deficiency type 1 due to a novel compound heterozygous MC2R mutationArtur Mazur
Institute of Physiotherapy, University of Rzeszow, Poland
Horm Res 69:363-8. 2008..Description of the clinical, biochemical and genetic features of a Polish patient with familial glucocorticoid deficiency...
- Muscle 3243A-->G mutation load and capacity of the mitochondrial energy-generating systemAntoon J M Janssen
Department of Pediatrics and Laboratory of Pediatrics and Neurology, Nijmegen Centre for Mitochondrial Disorders, Radboud University Medical Centre, Nijmegen, The Netherlands
Ann Neurol 63:473-81. 2008....
- Respiratory chain dysfunction and oxidative stress correlate with severity of primary CoQ10 deficiencyCatarina M Quinzii
Department of Neurology, Columbia University Medical Center, New York, New York 10032, USA
FASEB J 22:1874-85. 2008....