Joseph G Gleeson Selected Research

Agenesis of Cerebellar Vermis

1/2016	Identification of a homozygous nonsense mutation in KIAA0556 in a consanguineous family displaying Joubert syndrome.
5/2015	Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome.
1/2014	A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
6/2012	Exome sequencing can improve diagnosis and alter patient management.
1/2012	CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium.
2/2010	AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
6/2006	Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.

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Joseph G Gleeson Research Topics

Disease

15	Microcephaly 01/2021 - 06/2012
12	Epilepsy (Aura) 01/2022 - 04/2009
11	Intellectual Disability (Idiocy) 01/2020 - 07/2003
11	Ciliopathies 01/2016 - 09/2009
9	Brain Diseases (Brain Disorder) 01/2022 - 09/2009
7	Agenesis of Cerebellar Vermis 01/2016 - 06/2006
6	Ataxia (Dyssynergia) 12/2021 - 01/2004
6	Neurodevelopmental Disorders 12/2021 - 10/2016
6	Pontocerebellar Hypoplasia 01/2021 - 03/2013
4	Seizures (Absence Seizure) 01/2021 - 04/2009
4	Lissencephaly 10/2019 - 06/2004
3	Infections 10/2022 - 11/2016
3	Neurodegenerative Diseases (Neurodegenerative Disease) 01/2022 - 12/2018
3	Coloboma (Colobomas) 01/2021 - 01/2004
3	Congenital Disorders of Glycosylation 01/2020 - 07/2010
3	Atrophy 12/2018 - 05/2015
3	Malformations of Cortical Development 12/2015 - 03/2013
3	Polydactyly (Polydactylism) 01/2014 - 09/2011
2	Leukoencephalopathies 01/2021 - 01/2019
2	Hemimegalencephaly 03/2020 - 11/2019
2	Neoplasms (Cancer) 01/2018 - 04/2017
2	Metabolic Bone Diseases (Osteopenia) 11/2017 - 11/2012
2	Cobblestone Lissencephaly 11/2016 - 04/2014
2	Autistic Disorder (Autism) 11/2015 - 10/2012
2	Retinitis Pigmentosa (Pigmentary Retinopathy) 08/2015 - 09/2011
2	Scoliosis 04/2014 - 11/2012
2	Kidney Diseases (Kidney Disease) 01/2014 - 02/2010
2	Cystic Kidney Diseases (Cystic Kidney Disease) 09/2011 - 09/2009
2	Cerebellar Ataxia (Dysmetria) 09/2011 - 11/2010
2	Blindness (Hysterical Blindness) 09/2011 - 02/2010
2	Fibrosis (Cirrhosis) 09/2011 - 01/2004
1	Spinal Muscular Atrophy (Progressive Muscular Atrophy) 09/2022
1	Nervous System Diseases (Neurological Disorders) 01/2022
1	Bradycardia 12/2021
1	Cardiac Arrhythmias (Arrythmia) 12/2021
1	Zellweger Syndrome (Zellweger's Syndrome) 07/2021
1	Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders) 01/2021
1	Hereditary renal agenesis 01/2021
1	Alopecia (Baldness) 01/2021
1	Syndactyly (Polysyndactyly) 01/2021
1	Hypothyroidism 01/2021
1	Cicatrix (Scar) 01/2020
1	Sleep Initiation and Maintenance Disorders (Insomnia) 01/2020
1	Peripheral Nervous System Diseases (PNS Diseases) 01/2020
1	Inborn Genetic Diseases (Disease, Hereditary) 01/2020
1	Tuberous Sclerosis (Bourneville's Disease) 11/2019
1	Focal Cortical Dysplasia 11/2019

Drug/Important Bio-Agent (IBA)

30	Proteins (Proteins, Gene)FDA Link 09/2022 - 07/2003
5	Retinaldehyde (Retinal)IBA 08/2015 - 02/2010
4	EnzymesIBA 01/2022 - 11/2012
4	Carrier Proteins (Binding Protein)IBA 12/2021 - 07/2003
3	Pharmaceutical PreparationsIBA 01/2022 - 12/2015
3	ADP-ribosylarginine hydrolaseIBA 12/2021 - 01/2018
3	DNA (Deoxyribonucleic Acid)IBA 01/2021 - 11/2018
3	TOR Serine-Threonine KinasesIBA 03/2020 - 12/2015
3	LipidsIBA 01/2020 - 07/2015
3	CateninsIBA 10/2019 - 06/2011
3	TubulinIBA 12/2018 - 01/2012
2	Dyneins (Dynein)IBA 09/2022 - 06/2004
2	Guanine NucleotidesIBA 12/2021 - 07/2003
2	Glycosylphosphatidylinositols (Glycosyl-Phosphatidylinositol)IBA 01/2021 - 04/2012
2	Pyridoxine (Pyridoxin)FDA LinkGeneric 01/2021 - 01/2019
2	MethyltransferasesIBA 01/2019 - 09/2014
2	RNA (Ribonucleic Acid)IBA 01/2019 - 09/2014
2	Biological ProductsIBA 11/2018 - 03/2011
2	citron-kinaseIBA 01/2018 - 08/2016
2	SteroidsIBA 01/2017 - 11/2010
2	Amino Acids FDA Link 12/2016 - 09/2016
2	Creatine Kinase (Creatine Phosphokinase)IBA 11/2016 - 04/2014
2	Phosphatidylinositols (Phosphatidylinositol)IBA 10/2016 - 09/2009
2	splicing endonucleaseIBA 07/2016 - 01/2016
2	Phosphotransferases (Kinase)IBA 12/2015 - 10/2012
1	OligonucleotidesIBA 01/2022
1	Inosine Triphosphate (ITP)IBA 01/2022
1	purineIBA 01/2022
1	Glutamine (L-Glutamine)FDA Link 01/2022
1	PyrophosphatasesIBA 01/2022
1	Inosine TriphosphataseIBA 01/2022
1	Carbachol (Carbastat)FDA Link 12/2021
1	GTP-Binding Proteins (G-Protein)IBA 12/2021
1	Factor XII (Hageman Factor)IBA 07/2021
1	Wnt ProteinsIBA 01/2021
1	VitaminsIBA 01/2021
1	MTOR InhibitorsIBA 01/2021
1	Interferon Type IIBA 01/2021
1	LigandsIBA 01/2021
1	Phytic Acid (Inositol Hexaphosphate)IBA 11/2020
1	Chelating AgentsIBA 11/2020
1	Protein Kinases (Protein Kinase)IBA 03/2020
1	HydrolasesIBA 01/2020
1	HDL CholesterolIBA 01/2020
1	Adenosine Diphosphate Ribose (ADP-Ribose)IBA 01/2020
1	asparaginyl-tRNA synthetaseIBA 01/2020
1	Histones (Histone)IBA 01/2020
1	Protein Disulfide-IsomerasesIBA 01/2020
1	ChromatinIBA 01/2020
1	Valine-tRNA LigaseIBA 12/2019
1	Ribosomal Protein S6IBA 11/2019
1	trans-sodium crocetinate (crocetin)IBA 11/2019

Therapy/Procedure

6	Therapeutics 10/2022 - 07/2003