about
Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult miceIdentification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinicsMice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndromeCIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidismAbsence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss.The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells.Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human DiseaseThe mouse as a model for age-related hearing loss - a mini-review.Light and Electron Microscopy Methods for Examination of Cochlear Morphology in Mouse Models of Deafness.The actin-binding proteins eps8 and gelsolin have complementary roles in regulating the growth and stability of mechanosensory hair bundles of mammalian cochlear outer hair cells.A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.Age-Related Hearing LossThe epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neuronsMiR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETsHelios is a key transcriptional regulator of outer hair cell maturationGenetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiersX-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPaseOptimisation of electroporation for biochemical experiments in live cellsGenetic landscape of auditory dysfunctionClarin-2 is essential for hearing by maintaining stereocilia integrity and function
P50
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P50
description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-7971-445X
@en
name
Michael R Bowl
@ast
Michael R Bowl
@en
Michael R Bowl
@nl
type
label
Michael R Bowl
@ast
Michael R Bowl
@en
Michael R Bowl
@nl
prefLabel
Michael R Bowl
@ast
Michael R Bowl
@en
Michael R Bowl
@nl
P106
P31
P496
0000-0001-7971-445X