Mandy Krumbiegel
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View article: A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation
A novel human organoid model system reveals requirement of TCF4 for oligodendroglial differentiation Open
Heterozygous mutations of TCF4 in humans cause Pitt–Hopkins syndrome, a neurodevelopmental disease associated with intellectual disability and brain malformations. Although most studies focus on the role of TCF4 in neural stem cells and ne…
View article: Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency
Proteasomal activation ameliorates neuronal phenotypes linked to FBXO11-deficiency Open
Haploinsufficiency of FBXO11, encoding a ubiquitin ligase complex subunit, is associated with a variable neurodevelopmental disorder. So far, the underlying nervous system-related pathomechanisms are poorly understood, and specific therapi…
View article: Severe manifestation of <scp>Rauch‐Azzarello</scp> syndrome associated with biallelic deletion of <scp> <i>CTNND2</i> </scp>
Severe manifestation of <span>Rauch‐Azzarello</span> syndrome associated with biallelic deletion of <span> <i>CTNND2</i> </span> Open
CTNND2 encodes δ‐catenin, a component of an adherens junction complex, and plays an important role in neuronal structure and function. To date, only heterozygous loss‐of‐function CTNND2 variants have been associated with mild neurodevelopm…
View article: Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue
Different MAPT haplotypes influence expression of total MAPT in postmortem brain tissue Open
View article: Aberrant phase separation and nucleolar dysfunction in rare genetic diseases
Aberrant phase separation and nucleolar dysfunction in rare genetic diseases Open
View article: Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay
Microdeletions at 19p13.11p12 in five individuals with neurodevelopmental delay Open
View article: Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression
Generation of a homozygous and a heterozygous SNCA gene knockout human-induced pluripotent stem cell line by CRISPR/Cas9 mediated allele-specific tuning of SNCA expression Open
Aggregation of alpha-synuclein (aSyn) is closely linked to Parkinson's disease, probably due to the loss of physiological functions and/or gain of toxic functions of aggregated aSyn. Significant efforts have been made elucidating the physi…
View article: Small Interstitial Deletion at Chromosome 12q21.33q22 in an Individual with Pronounced Delay in Speech Development
Small Interstitial Deletion at Chromosome 12q21.33q22 in an Individual with Pronounced Delay in Speech Development Open
View article: <i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization
<i>De novo</i> missense variants in FBXO11 alter its protein expression and subcellular localization Open
Recently, others and we identified de novo FBXO11 (F-Box only protein 11) variants as causative for a variable neurodevelopmental disorder (NDD). We now assembled clinical and mutational information on 23 additional individuals. The phenot…
View article: BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome
BDV Syndrome: an Emerging Syndrome With Profound Obesity and Neurodevelopmental Delay Resembling Prader-Willi Syndrome Open
Context CPE encodes carboxypeptidase E, an enzyme that converts proneuropeptides and propeptide hormones to bioactive forms. It is widely expressed in the endocrine and central nervous system. To date, 4 individuals from 2 families with co…
View article: A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine
A noninvasive diagnostic approach to retrospective donor HLA typing in kidney transplant patients using urine Open
Antibody-mediated rejection (AMR) is a major obstacle to long-term kidney transplantation. AMR is mostly caused by donor specific HLA antibodies, which can arise before or any time after transplantation. Incomplete donor HLA typing and una…
View article: Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability
Clinical, neuroimaging, and molecular spectrum of <i>TECPR2</i> ‐associated hereditary sensory and autonomic neuropathy with intellectual disability Open
Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation framework f…
View article: Clinical and molecular delineation of spondylocostal dysostosis type 3
Clinical and molecular delineation of spondylocostal dysostosis type 3 Open
Spondylocostal dysostosis (SCDO) is a heterogeneous group of rare spine disorders defined by multiple vertebral segmentation defects (M-SDV) and rib anomalies. Patients with SCDO present with short trunk short stature and mild to significa…
View article: Author response for "Clinical and molecular delineation of spondylocostal dysostosis type 3"
Author response for "Clinical and molecular delineation of spondylocostal dysostosis type 3" Open
View article: Author response for "Clinical and molecular delineation of spondylocostal dysostosis type 3"
Author response for "Clinical and molecular delineation of spondylocostal dysostosis type 3" Open
View article: Author response for "Clinical and molecular delineation of spondylocostal dysostosis type 3"
Author response for "Clinical and molecular delineation of spondylocostal dysostosis type 3" Open
View article: Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability
Clinical, neuroimaging and molecular spectrum of <i>TECPR2</i>-associated hereditary sensory and autonomic neuropathy with intellectual disability Open
PURPOSE Bi-allelic TECPR2 variants have been associated with a complex syndrome with features of both a neurodevelopmental and neurodegenerative disorder. Here, we provide a comprehensive clinical description and variant interpretation fra…
View article: CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome
CRISPR/Cas9 mediated generation of human ARID1B heterozygous knockout hESC lines to model Coffin-Siris syndrome Open
ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. At present, no appropriate human stem cell mode…
View article: Issue Information
Issue Information Open
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View article: Prenatal diagnosis of <i>HNF1B</i> ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Prenatal diagnosis of <i>HNF1B</i> ‐associated renal cysts: Is there a need to differentiate intragenic variants from 17q12 microdeletion syndrome? Open
Objective 17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we …
View article: Prenatal diagnosis of <i>HNF1B</i>-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome?
Prenatal diagnosis of <i>HNF1B</i>-associated renal cysts: Need to differentiate intragenic variants from 17q12 microdeletion syndrome? Open
Objective Large deletions of chromosome 17q12 (17q12DS) or intragenic variants in HNF1B are associated with variable developmental, endocrine and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we de…
View article: The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Open
View article: Additional file 2: of The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy
Additional file 2: of The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy Open
Additional information, phenotypes and TUBA1A variants. (XLSX 574 kb)
View article: Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Open
View article: The mutational and phenotypic spectrum of <i>TUBA1A</i>-associated tubulinopathy
The mutational and phenotypic spectrum of <i>TUBA1A</i>-associated tubulinopathy Open
Background The TUBA1A -associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. It is an autosomal dominant disorder mostly caused by de…
View article: Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Authors
Need for high-resolution Genetic Analysis in iPSC: Results and Lessons from the ForIPS Consortium Authors Open
Genetic integrity of induced pluripotent stem cells (iPSCs) is essential for their validity as disease models and for potential therapeutic use. We describe the comprehensive analysis in the ForIPS consortium: an iPSC collection from donor…
View article: α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies
α-Synuclein oligomers induce early axonal dysfunction in human iPSC-based models of synucleinopathies Open
Significance α-Synuclein (α-Syn) aggregation underlies neurodegeneration in synucleinopathies. However, the nature of α-Syn aggregates and their toxic mechanisms in human pathology remains elusive. Here, we delineate a role of α-Syn oligom…
View article: Erratum: Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
Erratum: Corrigendum: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome Open
View article: A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome
A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome Open