14 Result(s)
within
T. Meitinger
English
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Article
Open AccessMitochondrial genetic variants identified to be associated with posttraumatic stress disorder
Despite the fact that mitochondrial dysfunctions are increasingly recognized as key components in stress-related mental disorders, very little is known about the association between posttraumatic stress disord...
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Article
Open AccessMigraine without aura: genome-wide association analysis identifies several novel susceptibility
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Article
A KATP channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila
Humans sleep approximately a third of their lifetime. The observation that individuals with either long or short sleep duration show associations with metabolic syndrome and psychiatric disorders suggests that...
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Article
Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing
Genetic lesions are crucial for cancer initiation. Recently, whole genome sequencing, using next generation technology, was used as a systematic approach to identify mutations in genomes of various types of tu...
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Article
Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes
Mutations in the chloride channel gene CLCN2 have been reported in families with generalized and focal epilepsy syndromes. To evaluate the contribution of mutations in the CLCN2 gene to the etiology of epilepsies...
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Article
Expression and mutation analysis of BRUNOL3, a candidate gene for heart and thymus developmental defects associated with partial monosomy 10p
Partial monosomy 10p is a rare chromosomal aberration. Patients often show symptoms of the DiGeorge/velocardiofacial syndrome spectrum. The phenotype is the result of haploinsufficiency of at least two regions...
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Article
Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the b-myosin heavy chain gene and cardiac arrest in childhood A case report and family study
Die hypertrophe Kardiomyopathie (HCM) ist eine Erkrankung des Myokards mit variablem Geno- und Phänotyp. Um zu zeigen, dass die Mutation Arg719Trp ein Risikofaktor bedeutet und mit einer apikalen HCM (AHCM) ei...
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Chapter and Conference Paper
Somatic gene therapy in animal models of Parkinson’s disease
Gene therapy in Parkinson’s disease (PD) emerged about 10 years ago but until now, no clinical trials are under way, because most approaches have failed to show long-term therapeutic effects in PD animal model...
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Article
Geographic distribution and origin of CFTR mutations in Germany
The geographic distribution and origin of CFTR mutations in Germany was evaluated in 658 three-generation families with cystic fibrosis (CF). Fifty different mutations were detected on 1305 parental CF chromos...
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Article
A gene (RPGR) with homology to the RCC1 guanine nucleotide exchange factor is mutated in X–linked retinitis pigmentosa (RP3)
X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the population. The most common form of xIRR RP3, has been localised to the interval between CY...
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Article
A gene (PEX) with homologies to endopeptidases is mutated in patients with X–linked hypophosphatemic rickets
X–linked hypophosphatemic rickets (HYP) is a dominant disorder characterised by impaired phosphate uptake in the kidney, which is likely to be caused by abnormal regulation of sodium phosphate cotransport in t...
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Article
Mutation analysis in the diagnosis of cystic fibrosis
Since the characterization of the gene encoding the cystic fibrosis transmembrane conductance regulator protein and identification of its main mutation, ΔF508, causing cystic fibrosis (CF), more than 150 mutat...
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Article
Generation and characterization of radiation reduced cell hybrids and isolation of probes from the proximal short arm of the human X chromosome
Employing a modified Goss-Harris irradiation fusion protocol, we have generated a panel of somatic cell hybrids containing various overlap** fragments of the Xcen-Xp11.4 interval. This region of the human X ...
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Article
Isolation of a candidate gene for Norrie disease by positional cloning
The gene for Norrie disease, an X–linked disorder characterized by progressive atrophy of the eyes, mental disturbances and deafness, has been mapped to chromosome Xp11 close to DXS7 and the monoamine oxidase (MA...
