Nicholas Katsanis Selected Research

Mainzer-Saldino Disease

1/2017	Partial uniparental isodisomy of chromosome 16 unmasks a deleterious biallelic mutation in IFT140 that causes Mainzer-Saldino syndrome.
11/2013	Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans.

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Nicholas Katsanis Research Topics

Disease

23	Ciliopathies 11/2020 - 10/2007
16	Bardet-Biedl Syndrome (Syndrome, Bardet-Biedl) 01/2021 - 03/2003
8	Macular Degeneration (Age-Related Maculopathy) 01/2020 - 10/2008
7	Intellectual Disability (Idiocy) 12/2021 - 03/2005
7	Inborn Genetic Diseases (Disease, Hereditary) 04/2017 - 03/2005
7	Meckel syndrome type 1 01/2017 - 01/2006
5	Neurodevelopmental Disorders 01/2021 - 04/2015
5	Retinal Degeneration 01/2020 - 05/2004
5	Schizophrenia (Dementia Praecox) 01/2019 - 09/2008
5	Neoplasms (Cancer) 01/2018 - 03/2005
4	Microcephaly 01/2019 - 02/2013
4	Cysts 04/2015 - 11/2008
4	Fuchs' Endothelial Dystrophy 10/2013 - 01/2010
3	Autistic Disorder (Autism) 01/2021 - 04/2015
3	Obesity 01/2020 - 05/2004
3	Retinitis Pigmentosa (Pigmentary Retinopathy) 01/2020 - 06/2009
3	Agenesis of Cerebellar Vermis 01/2014 - 11/2008
2	Autism Spectrum Disorder 01/2021 - 10/2014
2	Mitochondrial Diseases (Mitochondrial Disease) 01/2021 - 01/2020
2	Fibrosis (Cirrhosis) 01/2021 - 01/2020
2	Craniosynostoses (Craniosynostosis) 11/2020 - 03/2005
2	Kallmann Syndrome (Kallmann's Syndrome) 11/2020 - 12/2014
2	Language Development Disorders (Semantic-Pragmatic Disorder) 01/2020 - 10/2017
2	Hemorrhage 01/2019 - 03/2014
2	Neoplasm Metastasis (Metastasis) 01/2018 - 10/2011
2	Mainzer-Saldino Disease 01/2017 - 11/2013
2	Inflammation (Inflammations) 01/2017 - 03/2015
2	Mental Disorders (Mental Disorder) 01/2016 - 02/2005
2	Polydactyly (Polydactylism) 04/2015 - 07/2011
2	Bardet-Biedl syndrome 4 05/2014 - 09/2008
2	Jeune syndrome 11/2013 - 03/2011
2	Liver Diseases (Liver Disease) 11/2008 - 09/2006
1	Seizures (Absence Seizure) 12/2021
1	Primary Ovarian Insufficiency 12/2021
1	Hearing Loss (Hearing Impairment) 12/2021
1	Situs Inversus 11/2020
1	Renal Insufficiency (Renal Failure) 01/2020
1	Congenital Disorders of Glycosylation 01/2020
1	Optic Atrophy 01/2020
1	Neurocognitive Disorders (Clerambault Syndrome) 11/2019
1	Thrombocytopenia (Thrombopenia) 01/2019
1	Epilepsy (Aura) 11/2018
1	Trisomy (Trisomies) 01/2018
1	Congenital Abnormalities (Deformity) 10/2017
1	Fever (Fevers) 10/2017
1	Hyperthermia 10/2017
1	Deafness (Deaf Mutism) 02/2017

Drug/Important Bio-Agent (IBA)

46	Proteins (Proteins, Gene)FDA Link 01/2021 - 03/2003
6	Retinaldehyde (Retinal)IBA 01/2020 - 11/2008
5	Protein Isoforms (Isoforms)IBA 04/2017 - 02/2012
4	Biological ProductsIBA 11/2020 - 10/2014
4	Transcription Factors (Transcription Factor)IBA 01/2020 - 01/2010
4	Proteasome Endopeptidase Complex (Proteasome)IBA 11/2019 - 05/2014
4	Carrier Proteins (Binding Protein)IBA 01/2017 - 03/2011
4	Nonsense Codon (Nonsense Mutation)IBA 04/2013 - 09/2008
3	Mitochondrial DNA (mtDNA)IBA 12/2021 - 01/2020
3	CollagenIBA 01/2019 - 01/2013
3	Leucine (L-Leucine)FDA Link 01/2017 - 10/2008
3	chemotactic factor inactivatorIBA 01/2017 - 07/2013
3	DNA (Deoxyribonucleic Acid)IBA 04/2015 - 01/2011
3	LigandsIBA 10/2011 - 03/2005
2	Adenosine Triphosphatases (ATPase)IBA 11/2020 - 02/2017
2	Immunoglobulin D (IgD)IBA 11/2020 - 12/2014
2	Rhodopsin (Visual Purple)IBA 01/2020 - 11/2019
2	CateninsIBA 11/2019 - 04/2015
2	ChromatinIBA 01/2018 - 10/2017
2	Serine (L-Serine)FDA Link 01/2017 - 05/2011
2	Centrosomal Associated ProteinsIBA 01/2017 - 01/2014
2	Biomarkers (Surrogate Marker)IBA 01/2016 - 04/2015
2	Messenger RNA (mRNA)IBA 04/2015 - 02/2015
2	DNA HelicasesIBA 12/2014 - 10/2014
2	Transforming Growth Factor beta (TGF-beta)IBA 01/2012 - 03/2005
2	ChaperoninsIBA 01/2007 - 03/2005
1	Gonadal Steroid Hormones (Sex Hormones)IBA 12/2021
1	Co-Repressor ProteinsIBA 01/2021
1	Retroelements (Retrotransposon)IBA 01/2021
1	Sin3 Histone Deacetylase and Corepressor ComplexIBA 01/2021
1	ElastinIBA 01/2021
1	Adenylate KinaseIBA 11/2020
1	Dyneins (Dynein)IBA 11/2020
1	KinesinsIBA 01/2020
1	Initiator Codon (Start Codon)IBA 01/2020
1	Polysaccharides (Glycans)IBA 01/2020
1	Ubiquitin-Protein Ligases (Ubiquitin-Protein Ligase)IBA 11/2019
1	convulxinIBA 01/2019
1	RNA Splice SitesIBA 01/2019
1	CalciumIBA 11/2018
1	Bevacizumab (Avastin)FDA Link 01/2018
1	EndoglinIBA 01/2018
1	carotuximabIBA 01/2018
1	Monoclonal AntibodiesIBA 01/2018
1	Vascular Endothelial Growth Factor A (Vascular Endothelial Growth Factor)IBA 01/2018
1	Ion Channels (Ion Channel)IBA 10/2017
1	ATP dependent 26S protease (26S proteasome)IBA 02/2017
1	Codon (Codons)IBA 01/2017

Therapy/Procedure

4	Therapeutics 01/2018 - 10/2008
3	Corneal Transplantation (Keratoplasty) 10/2013 - 01/2010
1	Transplantation 01/2020
1	Injections 01/2018
1	Induced Hyperthermia (Thermotherapy) 10/2017