Maja Hempel
University of Hamburg
Publications 126
#1Inga Harting (University Hospital Heidelberg)H-Index: 12
#2Murtadha Al-Saady (Boston Children's Hospital)
Last.Nicole I. Wolf (Boston Children's Hospital)H-Index: 39
view all 17 authors...
Biallelic variants in POLR3A cause 4H leukodystrophy, characterized by hypomyelination in combination with cerebellar and pyramidal signs and variable non-neurological manifestations. Basal ganglia are spared in 4H leukodystrophy, and dystonia is not prominent. Three patients with variants in POLR3A, an atypical presentation with dystonia, and MR involvement of putamen and caudate nucleus (striatum) and red nucleus have previously been reported. Genetic, clinical findings and 18 MRI scans from n...
#1Pauline E. Schneeberger (UHH: University of Hamburg)
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 6
Last.Kerstin Kutsche (UHH: University of Hamburg)H-Index: 32
view all 5 authors...
In eukaryotes, the elongation phase of transcription by RNA polymerase II (RNAP II) is regulated by the transcription elongation factor b (P-TEFb), composed of Cyclin-T1 and cyclin-dependent kinase 9. The release of RNAP II is mediated by phosphorylation through P-TEFb that in turn is under control by the inhibitory 7SK small nuclear ribonucleoprotein (snRNP) complex. The 7SK snRNP consists of the 7SK non-coding RNA and the proteins MEPCE, LARP7, and HEXIM1/2. Biallelic LARP7 loss-of-function va...
#1Alina FilatovaH-Index: 4
#2Linda K. Rey (HHU: University of Düsseldorf)
Last.Ulrike A. NuberH-Index: 1
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Mutations in genes encoding components of BAF (BRG1/BRM-associated factor) chromatin remodeling complexes cause neurodevelopmental disorders and tumors. The mechanisms leading to the development of these two disease entities alone or in combination remain unclear. We generated mice with a heterozygous nervous system-specific partial loss-of-function mutation in a BAF core component gene, Smarcb1. These Smarcb1 mutant mice show various brain midline abnormalities that are also found in individual...
#1Christian Staufner (University Hospital Heidelberg)H-Index: 10
#2Bianca Peters (University Hospital Heidelberg)
Last.Dominic Lenz (University Hospital Heidelberg)H-Index: 2
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Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. Individuals with biallelic variants in NBAS were recruited within an international, multicenter study, including novel and previously published patients. Clinical variables were analyzed with log-linear mode...
#1Laura Hecher (UHH: University of Hamburg)
#2Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
Last.Jonas Denecke (UHH: University of Hamburg)H-Index: 6
view all 6 authors...
#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Jennifer E. Posey (BCM: Baylor College of Medicine)H-Index: 12
Last.James R. LupskiH-Index: 117
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Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) di...
Absence of SOD1 Activity and Motor Neuron Syndrome In a child with a homozygous truncating mutation in SOD1, SOD1 activity in red cells was absent and fibroblasts grew only with oxygen deprivation....
#1Sina Renner (UHH: University of Hamburg)H-Index: 1
#2Helke SchülerH-Index: 4
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
view all 31 authors...
Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management. We analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity. We identified 1 pathogen...
#1Alexej Knaus (University Hospital Bonn)H-Index: 5
#2Fanny Kortüm (UHH: University of Hamburg)H-Index: 10
Last.Peter M. Krawitz (University Hospital Bonn)H-Index: 2
view all 13 authors...
The glycosylphosphatidylinositol (GPI) anchor links over 150 proteins to the cell surface and is present on every cell type. Many of these proteins play crucial roles in neuronal development and function. Mutations in 18 of the 29 genes implicated in the biosynthesis of the GPI anchor have been identified as the cause of GPI biosynthesis deficiencies (GPIBDs) in humans. GPIBDs are associated with intellectual disability and seizures as their cardinal features. An essential component of the GPI t...
1 CitationsSource
#1Katja Kloth (UHH: University of Hamburg)H-Index: 3
#2Sina Renner (UHH: University of Hamburg)H-Index: 1
Last.Georg Rosenberger (UHH: University of Hamburg)H-Index: 15
view all 10 authors...
2 CitationsSource