Sancy A Leachman Selected Research

Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)

10/2012	A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.
9/2011	Paternal germ cell mosaicism in autosomal dominant pachyonychia congenita.
5/2011	Use of self-delivery siRNAs to inhibit gene expression in an organotypic pachyonychia congenita model.
5/2011	Genotype-phenotype correlations among pachyonychia congenita patients with K16 mutations.
5/2011	Development of quantitative molecular clinical end points for siRNA clinical trials.
2/2010	Keratin K6c mutations cause focal palmoplantar keratoderma.
11/2009	Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.
9/2008	Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
3/2008	Single-nucleotide-specific siRNA targeting in a dominant-negative skin model.
12/2007	A spectrum of mutations in keratins K6a, K16 and K17 causing pachyonychia congenita.

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Sancy A Leachman Research Topics

Disease

35	Melanoma (Melanoma, Malignant) 01/2021 - 05/2004
16	Neoplasms (Cancer) 08/2021 - 02/2002
10	Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome) 10/2012 - 12/2007
6	Cutaneous Malignant Melanoma 01/2021 - 08/2003
5	Nevus (Nevi) 01/2018 - 02/2002
4	Neoplasm Metastasis (Metastasis) 01/2016 - 03/2014
3	Skin Neoplasms (Skin Cancer) 01/2019 - 05/2010
3	Pigmented Nevus (Melanocytic Nevus) 01/2017 - 10/2007
3	Inborn Genetic Diseases (Disease, Hereditary) 02/2010 - 03/2008
2	Sunburn 01/2020 - 09/2010
2	Carcinoma (Carcinomatosis) 01/2019 - 05/2010
2	Albinism 11/2018 - 01/2017
2	Vitiligo 11/2018 - 06/2014
2	Uveal melanoma 01/2013 - 10/2006
2	Pain (Aches) 05/2011 - 11/2009
2	Papillomavirus Infections 08/2002 - 02/2002
1	COVID-19 01/2021
1	Piebaldism (Partial Albinism) 01/2017
1	Gastrointestinal Stromal Tumors (Gastrointestinal Stromal Tumor) 01/2017
1	Inflammation (Inflammations) 01/2016
1	Nevi and Melanomas 11/2015
1	Disease Progression 11/2015
1	Blue Nevus 01/2013
1	Oculocutaneous albinism type 2 01/2013
1	Skin Diseases (Skin Disease) 02/2010
1	Hyperkeratosis of the palms and soles and esophageal papillomas 02/2010
1	Thrombosis (Thrombus) 11/2009
1	Brain Neoplasms (Brain Tumor) 09/2007
1	Central Nervous System Diseases (CNS Diseases) 09/2007
1	Pancreatic Neoplasms (Pancreatic Cancer) 10/2006
1	Cysts 10/2005
1	Ataxia Telangiectasia (Louis Bar Syndrome) 04/2005

Drug/Important Bio-Agent (IBA)

8	Keratins (Keratin)IBA 10/2012 - 10/2005
6	Biomarkers (Surrogate Marker)IBA 01/2017 - 05/2010
6	Cyclin-Dependent Kinase Inhibitor p16IBA 11/2009 - 08/2003
5	Small Interfering RNA (siRNA)IBA 08/2021 - 09/2008
5	Proteins (Proteins, Gene)FDA Link 01/2021 - 04/2005
4	Melanins (Melanin)IBA 01/2020 - 10/2005
4	Sunscreening Agents (Sunscreens)IBA 01/2019 - 05/2009
4	Biological ProductsIBA 01/2018 - 10/2005
2	AntioxidantsIBA 01/2017 - 11/2015
2	RNA-Directed DNA Polymerase (Reverse Transcriptase)IBA 01/2016 - 10/2005
2	MicroRNAs (MicroRNA)IBA 12/2015 - 01/2014
2	DNA (Deoxyribonucleic Acid)IBA 01/2013 - 04/2005
2	NucleotidesIBA 05/2011 - 03/2008
2	Cyclin-Dependent Kinase 4IBA 03/2006 - 03/2006
1	Immune Checkpoint InhibitorsIBA 01/2021
1	Cytoplasmic and Nuclear Receptors (Nuclear Receptors)IBA 01/2021
1	Alprostadil (Muse)FDA LinkGeneric 09/2018
1	DecorinIBA 01/2018
1	sulforaphaneIBA 01/2018
1	Endothelin-3 (Endothelin 3)IBA 01/2017
1	Acetylcysteine (Siran)FDA LinkGeneric 01/2017
1	ThioredoxinsIBA 01/2017
1	8-hydroxyguanineIBA 01/2017
1	IpilimumabIBA 09/2016
1	Interleukin-2 (IL2)IBA 09/2016
1	Thioredoxin Reductase 1IBA 11/2015
1	Reactive Oxygen Species (Oxygen Radicals)IBA 06/2014
1	LipidsIBA 05/2014
1	Lovastatin (Mevacor)FDA LinkGeneric 05/2014
1	methylselenic acidIBA 03/2013
1	SeleniumIBA 03/2013
1	Selenomethionine (Sethotope)FDA Link 03/2013
1	Deubiquitinating EnzymesIBA 01/2013
1	RNA (Ribonucleic Acid)IBA 01/2013
1	VimentinIBA 05/2010
1	ProteomeIBA 05/2010
1	Desmoplakins (Desmoplakin)IBA 05/2010
1	Keratin-1IBA 05/2010
1	Sirolimus (Rapamycin)FDA Link 11/2009
1	ParaffinIBA 11/2008
1	Formaldehyde (Formol)FDA Link 11/2008
1	Keratin-6 (Keratin 6A)IBA 03/2008
1	PhosphoproteinsIBA 11/2007
1	PhosphoserineIBA 11/2007
1	beta-Galactosidase (Lactaid)IBA 10/2007
1	Dacarbazine (DIC)FDA LinkGeneric 09/2007
1	Temozolomide (Temodar)FDA LinkGeneric 09/2007
1	Tumor Suppressor Protein p14ARF (p14ARF)IBA 10/2006
1	CaspasesIBA 10/2006
1	SurvivinIBA 10/2006
1	Type 1 Melanocortin ReceptorIBA 03/2006
1	ErbB Receptors (EGF Receptor)IBA 10/2005
1	beta CateninIBA 10/2005
1	P-2 (P 2)IBA 10/2005
1	Decitabine FDA Link 06/2005
1	A-Form DNA (A-DNA)IBA 04/2005
1	A 17 (A-17)IBA 04/2005

Therapy/Procedure

9	Therapeutics 01/2021 - 09/2007
2	Chemoprevention 01/2019 - 01/2018
2	Immunotherapy 11/2018 - 01/2016
2	Oral Administration 01/2017 - 03/2013
2	Protective Clothing 09/2010 - 05/2009
1	Gastrectomy 02/2021
1	Molecular Targeted Therapy 01/2013
1	Intradermal Injections 05/2011
1	Needles 05/2011
1	Ligation 11/2009
1	Intravenous Infusions 06/2005