William S Sly Selected Research

Hemochromatosis (Bronze Diabetes)

6/2008	HFE association with transferrin receptor 2 increases cellular uptake of transferrin-bound iron.
11/2005	Pathophysiology of hereditary hemochromatosis.
11/2004	Pathogenesis of hereditary hemochromatosis.
12/2003	Contribution of the H63D mutation in HFE to murine hereditary hemochromatosis.
4/2003	Human platelets express hemochromatosis protein (HFE) and transferrin receptor 2.
11/2002	Decreased liver hepcidin expression in the Hfe knockout mouse.
8/2002	Targeted mutagenesis of the murine transferrin receptor-2 gene produces hemochromatosis.
4/2002	Iron uptake from plasma transferrin by the duodenum is impaired in the Hfe knockout mouse.
4/2002	Pathogenesis of hereditary hemochromatosis: genetics and beyond.
3/2002	Regulation of transferrin-mediated iron uptake by HFE, the protein defective in hereditary hemochromatosis.

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William S Sly Research Topics

Disease

20	Mucopolysaccharidosis VII (Sly Syndrome) 01/2016 - 11/2002
16	Neoplasms (Cancer) 01/2017 - 07/2002
16	Lysosomal Storage Diseases (Lysosomal Storage Disease) 03/2016 - 03/2003
12	Mucopolysaccharidoses 02/2015 - 12/2003
11	Hemochromatosis (Bronze Diabetes) 06/2008 - 01/2002
6	Mucopolysaccharidosis IV (Morquio Syndrome) 02/2015 - 12/2003
5	Retinitis Pigmentosa (Pigmentary Retinopathy) 04/2018 - 04/2004
4	Hypoxia (Hypoxemia) 08/2017 - 03/2004
3	Colorectal Neoplasms (Colorectal Cancer) 09/2016 - 09/2007
3	Glioblastoma (Glioblastoma Multiforme) 06/2012 - 04/2008
2	Glaucoma 04/2018 - 03/2013
2	Cystic Fibrosis (Mucoviscidosis) 08/2017 - 01/2016
2	Intellectual Disability (Idiocy) 02/2015 - 01/2007
2	Body Weight (Weight, Body) 02/2015 - 03/2008
2	Congenital Abnormalities (Deformity) 02/2015 - 01/2007
2	Hyperammonemia 03/2014 - 04/2013
2	Hypophosphatasia 03/2014 - 07/2006
2	Mucopolysaccharidosis III (Sanfilippo Syndrome) 10/2012 - 07/2008
2	Astrocytoma (Pilocytic Astrocytoma) 06/2012 - 04/2008
2	Carcinogenesis 09/2007 - 05/2006
1	Inborn Errors Metabolism (Inborn Errors of Metabolism) 01/2023
1	Metabolic Diseases (Metabolic Disease) 01/2023
1	Eye Diseases (Eye Disease) 04/2018
1	Wasting Syndrome (Wasting Disease) 08/2017
1	Back Pain (Backache) 08/2017
1	Osteomalacia 01/2017
1	Rickets (Rachitis) 01/2017
1	Craniosynostoses (Craniosynostosis) 01/2017
1	Wounds and Injuries (Trauma) 01/2017
1	Failure to Thrive 01/2016
1	Hyponatremia 01/2016
1	Rare Diseases (Rare Disease) 01/2016
1	Lung Diseases (Lung Disease) 01/2016
1	Bone Diseases (Bone Disease) 02/2015
1	Respiratory Insufficiency (Respiratory Failure) 02/2015
1	Infections 02/2015
1	Umbilical Hernia (Omphalocele) 02/2015
1	Coarse facial features 02/2015
1	Skin Neoplasms (Skin Cancer) 09/2014
1	Pyruvate Carboxylase Deficiency Disease 03/2014
1	Dehydration (Water Stress) 01/2014
1	Malignant Mesothelioma 03/2013
1	Nervous System Diseases (Neurological Disorders) 03/2013
1	Obesity 03/2013

Drug/Important Bio-Agent (IBA)

26	EnzymesIBA 01/2017 - 03/2003
17	GlucuronidaseIBA 01/2016 - 11/2002
14	Carbonic Anhydrases (Carbonic Anhydrase)IBA 04/2018 - 07/2003
11	IronIBA 06/2008 - 01/2002
10	GlycosaminoglycansIBA 01/2016 - 08/2004
10	IsoenzymesIBA 01/2014 - 07/2002
6	Biomarkers (Surrogate Marker)IBA 08/2017 - 08/2004
6	SulfatasesIBA 09/2014 - 12/2003
5	Proteins (Proteins, Gene)FDA Link 04/2008 - 03/2002
4	Protein Isoforms (Isoforms)IBA 04/2018 - 04/2008
4	Keratan SulfateIBA 03/2013 - 12/2003
4	Carbonic Anhydrase IVIBA 04/2010 - 04/2004
3	Carbonic Anhydrase IXIBA 03/2013 - 09/2007
3	Carbonic Anhydrase IIIBA 05/2010 - 07/2002
3	Transferrin Receptors (Transferrin Receptor)IBA 06/2008 - 08/2002
3	HepcidinsIBA 06/2008 - 11/2002
3	Protein Sorting Signals (Signal Peptide)IBA 12/2007 - 04/2004
3	Dietary IronIBA 08/2002 - 01/2002
2	Estrogen ReceptorsIBA 08/2017 - 05/2008
2	Carbon DioxideIBA 01/2017 - 02/2015
2	Glucuronic Acid (Glucuronate)IBA 01/2016 - 01/2013
2	Chondroitin Sulfates (Chondroitin Sulfate)IBA 02/2015 - 02/2003
2	Heparitin Sulfate (Heparan Sulfate)IBA 02/2015 - 03/2013
2	Alkaline PhosphataseIBA 03/2014 - 07/2006
2	SulfonamidesIBA 03/2013 - 03/2013
2	N-sulfoglucosamine sulfohydrolase (sulfamidase)IBA 10/2012 - 07/2008
2	carbonic anhydrase XIIIBA 05/2008 - 04/2008
2	Messenger RNA (mRNA)IBA 04/2008 - 09/2007
2	Complementary DNA (cDNA)IBA 08/2004 - 08/2004
2	Transferrin (beta 2 Transferrin)IBA 08/2002 - 03/2002
1	Glutamic Acid (Glutamate)FDA Link 01/2023
1	CarbonIBA 04/2018
1	SaltsIBA 08/2017
1	RNA (Ribonucleic Acid)IBA 01/2017
1	Bicarbonates (Hydrogen Carbonate)IBA 01/2017
1	Protons (Proton)IBA 01/2017
1	Tetracycline (Achromycin)FDA LinkGeneric 01/2017
1	AntibodiesIBA 09/2016
1	ChloridesIBA 01/2016
1	Oxygen (Dioxygen)IBA 02/2015
1	Dermatan SulfateIBA 02/2015
1	carglumic acid FDA Link 03/2014
1	Urea (Carbamide)FDA LinkGeneric 03/2014
1	N- (4'- fluorobutyrophenone)- 4- (4- chlorophenyl)pyridinium (HPP(+))IBA 03/2014
1	AmmoniaIBA 04/2013
1	Blood Glucose (Blood Sugar)IBA 04/2013
1	Antiglaucoma AgentsIBA 03/2013
1	Anti-Ulcer AgentsIBA 03/2013
1	DiureticsIBA 03/2013
1	Anti-Obesity Agents (Antiobesity Drugs)IBA 03/2013

Therapy/Procedure

12	Enzyme Replacement Therapy 03/2016 - 03/2004
4	Therapeutics 02/2015 - 06/2012
1	Sutures (Suture) 01/2017
1	Continuous Positive Airway Pressure 02/2015
1	Investigational Therapies (Experimental Therapy) 02/2015
1	Tracheostomy 02/2015