Tatjana Bierhals
University of Hamburg
MicrocephalyMutationGeneticsMissense mutationBiology
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Publications 23
#1Daphné LehalleH-Index: 13
#2Pierre VabresH-Index: 32
Last. Tobias Bartolomaeus (Leipzig University)
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Introduction Pigmentary mosaicism (PM) manifests by pigmentation anomalies along Blaschko’s lines and represents a clue toward the molecular diagnosis of syndromic intellectual disability (ID). Together with new insights on the role for lysosomal signalling in embryonic stem cell differentiation, mutations in the X-linked transcription factor 3 (TFE3) have recently been reported in five patients. Functional analysis suggested these mutations to result in ectopic nuclear gain of functions. Materi...
#1Isabelle C. Windheuser (University Hospital Bonn)
#2James T. Becker (University Hospital Bonn)H-Index: 88
Last. Alexander M. Zink (University of Bonn)H-Index: 13
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Both point mutations and deletions of the MYT1L gene as well as microdeletions of chromosome band 2p25.3 including MYT1L are associated with intellectual disability, obesity, and behavioral problems. Thus, MYT1L is assumed to be the-at least mainly-causative gene in the 2p25.3 deletion syndrome. Here, we present comprehensive descriptions of nine novel individuals bearing MYT1L mutations; most of them single nucleotide variants (SNVs). This increases the number of known individuals with causativ...
#2Leonie von Elsner (UHH: University of Hamburg)H-Index: 2
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 33
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P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. β4 is encoded by CACNB4, and its multiple splice variants serve isoform-specific functions as channel subunits and transcriptional regulators in the nucleus. In two siblings with intellectual disability, psychomotor retardation, blindness, epilepsy, movement disorder and cerebellar atrop...
1 CitationsSource
#1Matias WagnerH-Index: 6
#2Jonathan LévyH-Index: 3
Last. João Paulo KitajimaH-Index: 20
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TNR, encoding Tenascin-R, is an extracellular matrix glycoprotein involved in neurite outgrowth and neural cell adhesion, proliferation and migration, axonal guidance, myelination, and synaptic plasticity. Tenascin-R is exclusively expressed in the central nervous system with highest expression after birth. The protein is crucial in the formation of perineuronal nets that ensheath interneurons. However, the role of Tenascin-R in human pathology is largely unknown. We aimed to establish TNR as a ...
#1Inga Harting (University Hospital Heidelberg)H-Index: 25
#2Murtadha Al-Saady (Boston Children's Hospital)H-Index: 1
Last. Nicole I. Wolf (Boston Children's Hospital)H-Index: 40
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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...
1 CitationsSource
#1Chelban (UCL: University College London)H-Index: 1
#1Viorica Chelban (UCL: University College London)H-Index: 7
Last. Namik KayaH-Index: 22
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BACKGROUND AND PURPOSE: Hypomyelinating leukodystrophies are a heterogeneous group of genetic disorders with a wide spectrum of phenotypes and a high rate of genetically unsolved cases. Bi‐allelic mutations in NKX6‐2 were recently linked to spastic ataxia 8 with hypomyelinating leukodystrophy. METHODS: Using a combination of homozygosity mapping, exome sequencing, and detailed clinical and neuroimaging assessment a series of new NKX6‐2 mutations in a multicentre setting is described. Then, all r...
2 CitationsSource
#2Diana Mitter (University of Southern Denmark)
Last. Rikke S. MøllerH-Index: 40
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Objective The study is aimed at widening the clinical and genetic spectrum and at assessing genotype-phenotype associations in QARS encephalopathy. Methods Through diagnostic gene panel screening in an epilepsy cohort, and recruiting through GeneMatcher and our international network, we collected 10 patients with biallelic QARS variants. In addition, we collected data on 12 patients described in the literature to further delineate the associated phenotype in a total cohort of 22 patients. Comput...
#1Laura Hecher (UHH: University of Hamburg)H-Index: 1
#2Jessika Johannsen (UHH: University of Hamburg)H-Index: 6
Last. Jonas Denecke (UHH: University of Hamburg)H-Index: 7
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#1Pauline E. Schneeberger (UHH: University of Hamburg)H-Index: 2
#2Tatjana Bierhals (UHH: University of Hamburg)H-Index: 8
Last. Kerstin Kutsche (UHH: University of Hamburg)H-Index: 33
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...
2 CitationsSource
#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Jennifer E. Posey (BCM: Baylor College of Medicine)H-Index: 17
Last. James R. LupskiH-Index: 119
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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...