Stephen G Kaler Selected Research

Menkes Kinky Hair Syndrome (Menkes Disease)

12/2022	Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
9/2020	Estimated birth prevalence of Menkes disease and ATP7A-related disorders based on the Genome Aggregation Database (gnomAD).
9/2020	Targeted next generation sequencing for newborn screening of Menkes disease.
1/2020	Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
9/2018	Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model.
1/2016	The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
5/2015	Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
1/2015	Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease Phenotype.
10/2014	Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
5/2014	Translational research investigations on ATP7A: an important human copper ATPase.

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Stephen G Kaler Research Topics

Disease

33	Menkes Kinky Hair Syndrome (Menkes Disease) 12/2022 - 01/2002
11	Neurodegenerative Diseases (Neurodegenerative Disease) 09/2018 - 08/2005
6	Hepatolenticular Degeneration (Wilson's Disease) 12/2022 - 01/2012
6	Occipital horn syndrome 05/2015 - 01/2002
2	Seizures (Absence Seizure) 12/2022 - 10/2010
2	Neurodevelopmental Disorders 10/2010 - 08/2009
1	Ebola Hemorrhagic Fever 01/2023
1	Neoplasm Metastasis (Metastasis) 01/2022
1	Neoplasms (Cancer) 01/2022
1	Pruritus (Itching) 12/2017
1	Starvation 12/2017
1	Dermatitis 12/2017
1	Parkinson Disease (Parkinson's Disease) 01/2015
1	Alzheimer Disease (Alzheimer's Disease) 01/2015
1	Body Weight (Weight, Body) 02/2013
1	Charcot-Marie-Tooth Disease (Peroneal Muscular Atrophy) 01/2013
1	Muscle Hypotonia (Hypotonia) 09/2012
1	Respiratory Insufficiency (Respiratory Failure) 09/2012
1	Muscular Diseases (Myopathy) 04/2012
1	Dementia (Dementias) 04/2012
1	Amyotrophic Lateral Sclerosis (Lou Gehrig's Disease) 04/2012
1	Aortic Aneurysm (Aneurysm, Aortic) 04/2012
1	Cataract (Cataracts) 01/2012
1	Hearing Loss (Hearing Impairment) 01/2012
1	Epilepsy (Aura) 10/2010
1	Nervous System Diseases (Neurological Disorders) 09/2008
1	Aneurysm (Aneurysms) 09/2006
1	Emphysema 12/2005
1	Hemorrhage 07/2004
1	Thrombocytopenia (Thrombopenia) 07/2004
1	Congenital Heart Defects (Congenital Heart Defect) 07/2004
1	dopamine beta hydroxylase deficiency 02/2003
1	Anemia 02/2003
1	Hypopigmentation (Hypomelanosis) 08/2002
1	Myopia 08/2002
1	Strabismus (Squint) 08/2002

Drug/Important Bio-Agent (IBA)

38	CopperIBA 12/2022 - 01/2002
7	Copper-Transporting ATPasesIBA 01/2020 - 08/2009
6	P-type ATPasesIBA 05/2015 - 02/2003
5	Copper Transport ProteinsIBA 01/2020 - 10/2010
5	EnzymesIBA 11/2015 - 12/2005
3	MetalsIBA 01/2022 - 09/2008
3	Protein-Lysine 6-Oxidase (Lysyl Oxidase)IBA 04/2012 - 12/2005
2	Proteins (Proteins, Gene)FDA Link 01/2016 - 09/2008
2	Ceruloplasmin (Ferroxidase)IBA 01/2015 - 01/2012
2	Adenosine Triphosphatases (ATPase)IBA 02/2013 - 11/2006
2	Dopamine beta-HydroxylaseIBA 01/2013 - 08/2009
2	CatecholaminesIBA 01/2013 - 10/2010
2	Nonsense Codon (Nonsense Mutation)IBA 10/2010 - 01/2009
1	RNA (Ribonucleic Acid)IBA 01/2023
1	DNA (Deoxyribonucleic Acid)IBA 09/2020
1	Complement System Proteins (Complement)IBA 09/2020
1	Proteoglycans (Proteoglycan)IBA 12/2017
1	Tryptases (Tryptase)IBA 12/2017
1	Peptides (Polypeptides)IBA 01/2016
1	Messenger RNA (mRNA)IBA 01/2015
1	copper histidineIBA 10/2014
1	NucleotidesIBA 04/2014
1	SolutionsIBA 02/2013
1	Biomarkers (Surrogate Marker)IBA 01/2013
1	UbiquitinIBA 04/2012
1	Familial apoceruloplasmin deficiencyIBA 01/2012
1	3,4-Dihydroxyphenylacetic AcidIBA 08/2009
1	catechol (pyrocatechol)IBA 08/2009
1	Dopamine (Intropin)FDA LinkGeneric 08/2009
1	Norepinephrine (Noradrenaline)FDA LinkGeneric 08/2009
1	3,4-dihydroxyphenylglycolIBA 08/2009
1	ElastinIBA 12/2005
1	Platelet Membrane GlycoproteinsIBA 07/2004
1	von Willebrand FactorIBA 07/2004
1	von Willebrand factor receptor (VWF receptor)IBA 07/2004
1	Mydriatics (Cycloplegics)IBA 08/2002
1	Retinaldehyde (Retinal)IBA 08/2002

Therapy/Procedure

1	Intraperitoneal Injections 02/2013
1	Injections 10/2010