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List of works by Michael R Bowl

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

scientific article published in 2021

A large scale hearing loss screen reveals an extensive unexplored genetic landscape for auditory dysfunction.

scientific article published on 12 October 2017

A missense glial cells missing homolog B (GCMB) mutation, Asn502His, causes autosomal dominant hypoparathyroidism.

scientific article published on 12 May 2010

Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss.

scientific article

Age-Related Hearing Loss

scientific article published on 01 August 2019

Age-related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells

scientific article published on 01 July 2020

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics

scientific article

Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors.

scientific article published on 21 July 2009

Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea

scientific article published on 14 October 2020

CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.

scientific article

CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival

scientific article published on 30 October 2017

Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors.

scientific article

Clarin-2 is essential for hearing by maintaining stereocilia integrity and function

scientific article published on 26 August 2019

Correction of the auditory phenotype in C57BL/6N mice via CRISPR/Cas9-mediated homology directed repair.

scientific article

Forward genetics identifies a novel sleep mutant with sleep state inertia and REM sleep deficits

scientific article published on 12 August 2020

Genetic background influences embryonic lethality and the occurrence of neural tube defects in Men1 null mice: relevance to genetic modifiers

scientific article published on 08 July 2009

Genetic landscape of auditory dysfunction

scientific article published on 01 August 2018

Helios is a key transcriptional regulator of outer hair cell maturation

scientific article published in Nature

Identification and characterization of novel parathyroid-specific transcription factor Glial Cells Missing Homolog B (GCMB) mutations in eight families with autosomal recessive hypoparathyroidism.

scientific article

Identification of 70 calcium-sensing receptor mutations in hyper- and hypo-calcaemic patients: evidence for clustering of extracellular domain mutations at calcium-binding sites.

scientific article published on 14 March 2012

Light and Electron Microscopy Methods for Examination of Cochlear Morphology in Mouse Models of Deafness.

scientific article

Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness

scientific article published on 05 November 2020

MiR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETs

scientific article published on 01 September 2018

Mice deleted for cell division cycle 73 gene develop parathyroid and uterine tumours: model for the hyperparathyroidism-jaw tumour syndrome

scientific article

Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease

scientific article published on 17 May 2016

Neuroplastin genetically interacts with Cadherin 23 and the encoded isoform Np55 is sufficient for cochlear hair cell function and hearing

scientific article published in 2022

Novel gene function revealed by mouse mutagenesis screens for models of age-related disease.

scientific article

Optimisation of electroporation for biochemical experiments in live cells

scientific article published on 01 March 1999

Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal.

scientific article published on 11 September 2006

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

scientific article

Parafibromin, a component of the human PAF complex, regulates growth factors and is required for embryonic development and survival in adult mice

scientific journal article

Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea

scientific article published on 25 July 2020

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

scientific article published on 27 January 2014

The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

scientific article published on 01 February 2019

The goya mouse mutant reveals distinct newly identified roles for MAP3K1 in the development and survival of cochlear sensory hair cells.

scientific article published on 5 November 2015

The mouse as a model for age-related hearing loss - a mini-review.

scientific article

Utilisation of a cryptic non-canonical donor splice site of the gene encoding PARAFIBROMIN is associated with familial isolated primary hyperparathyroidism

scientific article

X-linked hypoparathyroidism region on Xq27 is evolutionarily conserved with regions on 3q26 and 13q34 and contains a novel P-type ATPase

scientific article published on 01 December 2004

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