Lista de obras -

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.

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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

artículo científico publicado en 2016

Age-Related Hearing Loss

artículo científico publicado en 2019

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

artículo científico publicado en 2020

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

artículo científico publicado en 2015

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

artículo científico publicado en 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.

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2010

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.

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2009

Genetic landscape of auditory dysfunction

artículo científico publicado en 2018

Helios is a key transcriptional regulator of outer hair cell maturation

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2020

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

artículo científico publicado en 2018

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

artículo científico publicado en 2017

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

artículo científico publicado en 2022

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

artículo científico publicado en 2016

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.

artículo científico publicado en 2006

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2019

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

artículo científico publicado en 2015

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

artículo científico publicado en 2014

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

Lista de obras de

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

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

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

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

Age-Related Hearing Loss

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

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

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

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

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

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

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

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

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

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

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

Genetic landscape of auditory dysfunction

Helios is a key transcriptional regulator of outer hair cell maturation

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

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

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

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

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

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

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

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

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

Optimisation of electroporation for biochemical experiments in live cells

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

Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours.

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

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

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

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

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

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

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

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