Thomas B Friedman Selected Research

type 1F Usher syndrome

6/2006	The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15.
12/2003	PCDH15 is expressed in the neurosensory epithelium of the eye and ear and mutant alleles are responsible for both USH1F and DFNB23.

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Thomas B Friedman Research Topics

Disease

35	Deafness (Deaf Mutism) 04/2022 - 05/2003
17	Hearing Loss (Hearing Impairment) 04/2022 - 11/2002
13	Nonsyndromic Deafness 04/2022 - 06/2004
5	Usher Syndromes (Usher Syndrome) 11/2021 - 04/2005
3	Autosomal Recessive 49 Deafness 04/2015 - 12/2006
3	Retinal Degeneration 04/2012 - 01/2008
3	Blindness (Hysterical Blindness) 04/2012 - 06/2006
2	Autosomal Recessive 42 Deafness 02/2015 - 02/2011
2	Autosomal Recessive 12 Deafness 11/2011 - 04/2005
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 11/2011 - 12/2003
2	type 1F Usher syndrome 06/2006 - 12/2003
1	Sensorineural Hearing Loss 04/2022
1	Mitochondrial Diseases (Mitochondrial Disease) 11/2021
1	Autosomal Recessive 39 Deafness 01/2020
1	Infantile Epileptic-Dyskinetic Encephalopathy 01/2019
1	Schizophrenia (Dementia Praecox) 01/2019
1	Neoplasms (Cancer) 01/2019
1	Male Infertility (Male Sterility) 01/2018
1	Autosomal Recessive 26 Deafness 01/2018
1	Bilateral Vestibulopathy 01/2018
1	Leigh Disease (Leigh's Disease) 03/2015
1	Stroke (Strokes) 08/2014
1	Gonadal dysgenesis XX type deafness 04/2013
1	Autosomal Recessive 48 Deafness 11/2012
1	Leber Congenital Amaurosis 04/2012
1	Ciliopathies 04/2012
1	Ototoxicity 12/2011
1	Deafness, Congenital, with Inner Ear Agenesis, Microtia, and Microdontia 02/2011
1	Congenital Microtia 02/2011
1	Autosomal Recessive 28 Deafness 05/2010
1	Autosomal Recessive 79 Deafness 03/2010
1	type 1D Usher syndrome 09/2009
1	Renal Insufficiency (Renal Failure) 08/2009
1	Bartter Syndrome (Syndrome, Bartter) 08/2009
1	Autosomal Recessive 35 Deafness 01/2008
1	24 Autosomal Recessive Deafness 05/2007
1	Hyperbilirubinemia 05/2007
1	Autosomal Dominant 15 Deafness 02/2007
1	Autosomal Recessive 23 Deafness 06/2006

Drug/Important Bio-Agent (IBA)

14	Proteins (Proteins, Gene)FDA Link 04/2022 - 08/2003
6	Myosins (Myosin)IBA 01/2021 - 11/2003
5	Protein Isoforms (Isoforms)IBA 01/2020 - 09/2004
4	Nonsense Codon (Nonsense Mutation)IBA 01/2019 - 05/2003
4	DNA (Deoxyribonucleic Acid)IBA 04/2016 - 05/2007
4	Cadherins (E-Cadherin)IBA 11/2011 - 04/2005
3	Actins (F Actin)IBA 04/2022 - 01/2019
3	MARVEL Domain Containing 2 ProteinIBA 04/2015 - 12/2006
2	Adenosine Triphosphatases (ATPase)IBA 01/2021 - 08/2014
2	AminoglycosidesIBA 01/2020 - 12/2011
2	Anti-Bacterial Agents (Antibiotics)IBA 01/2020 - 12/2011
2	Carrier Proteins (Binding Protein)IBA 01/2018 - 11/2012
2	Proto-Oncogene Proteins c-metIBA 01/2018 - 08/2015
2	NucleotidesIBA 08/2015 - 04/2008
2	Adenosine Triphosphate (ATP)IBA 04/2013 - 11/2012
2	claudin 14IBA 02/2013 - 08/2003
1	Ribonuclease P (RNase P)IBA 11/2021
1	Biological ProductsIBA 01/2020
1	Hepatocyte Growth Factor (Growth Factor, Hepatocyte)IBA 01/2020
1	LigandsIBA 01/2020
1	3' Untranslated Regions (3' UTR)IBA 01/2020
1	Intercellular Signaling Peptides and Proteins (Growth Factors)IBA 01/2020
1	Codon (Codons)IBA 01/2019
1	human CDC14A proteinIBA 01/2018
1	Histone Deacetylase InhibitorsIBA 01/2018
1	Phosphoric Monoester Hydrolases (Phosphatases)IBA 01/2018
1	Vorinostat FDA Link 01/2018
1	diphosphoinositol pentakisphosphate kinaseIBA 01/2018
1	MethyltransferasesIBA 01/2018
1	Tight Junction ProteinsIBA 04/2015
1	asparaginyl-tRNA synthetaseIBA 03/2015
1	Asn Transfer RNAIBA 03/2015
1	Mutant Proteins (Protein, Mutant)IBA 03/2015
1	Complement System Proteins (Complement)IBA 03/2015
1	DEET (DET)IBA 08/2014
1	Histidine-tRNA LigaseIBA 04/2013
1	Peptide Hydrolases (Proteases)FDA Link 04/2013
1	Mitochondrial Proteins (Mitochondrial Protein)IBA 04/2013
1	CalciumIBA 11/2012
1	IntegrinsIBA 11/2012
1	Doxycycline (Periostat)FDA LinkGeneric 11/2011
1	Initiator Codon (Start Codon)IBA 02/2011
1	Fibroblast Growth Factor 3IBA 02/2011
1	methionine sulfoxide reductaseIBA 01/2011
1	Glycine (Aminoacetic Acid)FDA LinkGeneric 01/2011
1	Cysteine (L-Cysteine)FDA Link 01/2011
1	Messenger RNA (mRNA)IBA 09/2009
1	Chloride Channels (Chloride Channel)IBA 08/2009
1	Myosin VIIaIBA 04/2008
1	Estrogens (Estrogen)FDA Link 01/2008
1	Retinaldehyde (Retinal)IBA 01/2008
1	N 30IBA 10/2007
1	moesinIBA 05/2007
1	ezrinIBA 05/2007
1	radixinIBA 05/2007
1	cyclonite (RDX)IBA 05/2007
1	Sphingosine-1-Phosphate ReceptorsIBA 04/2007
1	Transcription Factor Brn-3CIBA 02/2007
1	AntigensIBA 06/2006

Therapy/Procedure

3	Therapeutics 11/2021 - 11/2011
1	Cochlear Implantation 02/2011