Christine Petit Selected Research

Deafness (Deaf Mutism)

1/2021	A homozygous MPZL2 deletion is associated with non syndromic hearing loss in a moroccan family.
12/2019	Hair-Bundle Links: Genetics as the Gateway to Function.
1/2019	Dual AAV-mediated gene therapy restores hearing in a DFNB9 mouse model.
10/2018	Two novel homozygous missense mutations identified in the BSND gene in Moroccan patients with Bartter's syndrome.
12/2017	CIB2, defective in isolated deafness, is key for auditory hair cell mechanotransduction and survival.
1/2017	Conformational switch of harmonin, a submembrane scaffold protein of the hair cell mechanoelectrical transduction machinery.
8/2016	A novel biallelic splice site mutation of TECTA causes moderate to severe hearing impairment in an Algerian family.
1/2016	Class III myosins shape the auditory hair bundles by limiting microvilli and stereocilia growth.
1/2016	Mutations in CDC14A, Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness.
11/2015	Hypervulnerability to Sound Exposure through Impaired Adaptive Proliferation of Peroxisomes.

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Christine Petit Research Topics

Disease

31	Deafness (Deaf Mutism) 01/2021 - 11/2000
16	Usher Syndromes (Usher Syndrome) 01/2022 - 03/2003
14	Hearing Loss (Hearing Impairment) 01/2021 - 01/2003
6	Nonsyndromic Deafness 05/2020 - 07/2002
6	Blindness (Hysterical Blindness) 12/2017 - 12/2002
3	Sensorineural Hearing Loss 02/2020 - 12/2002
3	Deaf-Blind Disorders 12/2019 - 08/2005
2	Disease Progression 01/2021 - 12/2019
2	Cataract (Cataracts) 11/2019 - 01/2010
2	Inborn Genetic Diseases (Disease, Hereditary) 10/2018 - 01/2010
2	Auditory neuropathy 08/2015 - 07/2006
2	Retinal Dystrophies 03/2014 - 10/2012
2	Autosomal Recessive 22 Deafness 11/2012 - 04/2002
2	Noise-Induced Hearing Loss (Acoustic Trauma) 11/2010 - 05/2009
2	Kallmann Syndrome (Kallmann's Syndrome) 10/2006 - 02/2003
1	Night Blindness (Nyctalopia) 09/2021
1	alpha-Mannosidosis 01/2021
1	Sensation Disorders 01/2021
1	Cone-Rod Dystrophies 08/2020
1	Renal Tubular Acidosis (Distal Renal Tubular Acidosis) 02/2020
1	Acidosis 02/2020
1	Alkalosis 10/2018
1	Bartter Syndrome (Syndrome, Bartter) 10/2018
1	Hyperaldosteronism (Conn Syndrome) 10/2018
1	Presbycusis 05/2018
1	Type IC Usher Syndrome 01/2018
1	Gliosis 01/2018
1	Autosomal Recessive 48 Deafness 12/2017
1	Seizures (Absence Seizure) 01/2017
1	Autosomal Recessive 30 Deafness 01/2016
1	Hearing Disorders (Hearing Disorder) 05/2015
1	Type Ib Usher Syndrome 09/2013
1	Wounds and Injuries (Trauma) 01/2013
1	Cardiomyopathies (Cardiomyopathy) 01/2013
1	Mental Disorders (Mental Disorder) 01/2013
1	Retinal Degeneration 10/2012
1	Epilepsy (Aura) 09/2012
1	Ischemia 01/2010
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2010
1	Cognitive Dysfunction 01/2010
1	Heart Diseases (Heart Disease) 01/2010
1	Reticular dysgenesis 01/2009
1	Neoplasms (Cancer) 08/2008
1	Nausea 08/2008
1	Vomiting 08/2008
1	Retinitis Pigmentosa (Pigmentary Retinopathy) 04/2008

Drug/Important Bio-Agent (IBA)

33	Proteins (Proteins, Gene)FDA Link 05/2020 - 04/2002
9	Cadherins (E-Cadherin)IBA 05/2020 - 12/2002
9	Myosin VIIaIBA 09/2013 - 05/2002
8	Retinaldehyde (Retinal)IBA 01/2022 - 05/2002
4	ConnexinsIBA 01/2010 - 07/2002
3	DNA (Deoxyribonucleic Acid)IBA 11/2019 - 05/2015
3	Myosins (Myosin)IBA 01/2016 - 04/2004
2	Glycoproteins (Glycoprotein)IBA 01/2021 - 11/2000
2	Nonsense Codon (Nonsense Mutation)IBA 12/2017 - 01/2016
2	Protein Isoforms (Isoforms)IBA 09/2012 - 07/2002
2	Ser Transfer RNAIBA 11/2007 - 12/2002
2	Mitochondrial DNA (mtDNA)IBA 11/2007 - 12/2002
2	Gonadotropin-Releasing Hormone (GnRH)FDA Link 10/2006 - 02/2003
1	Myelin P0 Protein (Myelin Protein Zero)IBA 01/2021
1	alpha-Mannosidase (LAMAN)IBA 01/2021
1	dirhodium tetraacetate (DRTA)IBA 02/2020
1	Adenosine Triphosphatases (ATPase)IBA 02/2020
1	AcidsIBA 02/2020
1	Complementary DNA (cDNA)IBA 01/2019
1	ReninIBA 10/2018
1	hydrogen sulfite (bisulfite)IBA 05/2018
1	Biomarkers (Surrogate Marker)IBA 05/2018
1	AntioxidantsIBA 01/2018
1	Membrane Proteins (Integral Membrane Proteins)IBA 01/2018
1	Carrier Proteins (Binding Protein)IBA 12/2017
1	CalciumIBA 12/2017
1	IntegrinsIBA 12/2017
1	ParvalbuminsIBA 01/2017
1	RNA Splice SitesIBA 08/2016
1	Phosphoprotein Phosphatases (Phosphatases, Protein)IBA 01/2016
1	ErbB Receptors (EGF Receptor)IBA 08/2015
1	Apoptosis Inducing FactorIBA 08/2015
1	Microfilament Proteins (Actin Binding Proteins)IBA 04/2014
1	SpectrinIBA 09/2013
1	TenascinIBA 01/2013
1	1- ethyl- 4- phenyl- 1,2,3,6- tetrahydropyridineIBA 09/2012
1	Laminin (Merosin)IBA 09/2012
1	ThrombospondinsIBA 09/2012
1	Anti-Bacterial Agents (Antibiotics)IBA 11/2010
1	AminoglycosidesIBA 11/2010
1	Phospholipids (Phosphatides)FDA LinkGeneric 09/2010
1	Desmosomal CadherinsIBA 01/2010
1	myosin VIIBA 12/2009
1	adenylate kinase 2IBA 01/2009
1	Aprepitant (Emend)FDA Link 08/2008
1	Ondansetron (Zofran)FDA LinkGeneric 08/2008

Therapy/Procedure

4	Therapeutics 08/2020 - 08/2008
2	Transjugular Intrahepatic Portasystemic Shunt 01/2016 - 02/2005
1	Enzyme Replacement Therapy 01/2021
1	Prostheses and Implants (Prosthesis) 10/2013
1	Cochlear Implantation 10/2013
1	Cochlear Implants (Cochlear Implant) 11/2010
1	Hearing Aids (Hearing Aid) 11/2010
1	Drug Therapy (Chemotherapy) 08/2008