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F J Smith Selected Research

Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)

7/2021Identification of clinically useful predictive genetic variants in pachyonychia congenita.
12/2001Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.
5/2001Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.
5/2001Novel keratin 17 mutations in pachyonychia congenita type 2.
5/2001A new type of pachyonychia congenita.
6/2000Novel keratin 16 mutations and protein expression studies in pachyonychia congenita type 1 and focal palmoplantar keratoderma.

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F J Smith Research Topics

Disease

6Pachyonychia Congenita (Jadassohn-Lewandowsky Syndrome)
07/2021 - 06/2000
2Type 1 Diabetes Mellitus (Autoimmune Diabetes)
04/2012 - 04/2010
1Juvenile Arthritis (Juvenile Idiopathic Arthritis)
10/2016
1Chronic Obstructive Pulmonary Disease (COPD)
01/2015
1Chronic Disease (Chronic Diseases)
10/2008
1Cysts
12/2001
1Loose Anagen Hair Syndrome
10/2001
1Malformed Nails (Pachyonychia)
05/2001
1Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
05/2001
1Weight Loss (Weight Reduction)
11/2000
1Body Weight (Weight, Body)
11/2000
1Ichthyosis Bullosa of Siemens
11/2000
1Hyperkeratosis of the palms and soles and esophageal papillomas
06/2000
1Hereditary Corneal Dystrophies
01/2000

Drug/Important Bio-Agent (IBA)

7Keratins (Keratin)IBA
07/2021 - 01/2000
2Insulin (Novolin)FDA Link
04/2012 - 04/2010
2Keratin-16 (Keratin 16)IBA
05/2001 - 06/2000
1A-factor (Streptomyces)IBA
10/2016
1Dosage Forms (Dosage Form)IBA
10/2008
1Indicators and Reagents (Reagents)IBA
12/2001
1DNA (Deoxyribonucleic Acid)IBA
12/2001
1Keratin-17 (Keratin 17)IBA
05/2001
1Peptides (Polypeptides)IBA
05/2001
1pegylated leptinIBA
11/2000
1Triglycerides (Triacylglycerol)IBA
11/2000
1Keratin-2 (Keratin 2)IBA
11/2000
1Proteins (Proteins, Gene)FDA Link
06/2000
1Keratin-12 (Keratin 12)IBA
01/2000

Therapy/Procedure

2Therapeutics
01/2015 - 04/2012
1Injections
04/2010