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Gabriele Richard Selected Research

Keratin-1

1/2006A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
4/2003Epidermolytic hyperkeratosis and epidermolysis bullosa simplex caused by frameshift mutations altering the v2 tail domains of keratin 1 and keratin 5.
3/2003In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin.

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Gabriele Richard Research Topics

Disease

7Ichthyosis (Xeroderma)
09/2017 - 03/2003
4Keratitis-Ichthyosis-Deafness Syndrome
05/2016 - 11/2004
4Calcinosis
06/2008 - 06/2004
3Ectodermal Dysplasia (Aplasia Cutis Congenita)
11/2018 - 03/2005
3Familial Hyperphosphatemic Tumoral Calcinosis
01/2009 - 01/2005
3Hyperphosphatemia
01/2009 - 06/2004
2Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
01/2020 - 01/2006
2Intellectual Disability (Idiocy)
10/2015 - 11/2011
2Epidermolytic Hyperkeratosis (Bullous Congenital Ichthyosiform Erythroderma)
10/2010 - 04/2003
2Keratitis, Ichthyosis, and Deafness (KID) Syndrome
09/2008 - 05/2004
2Infections
06/2008 - 10/2006
2Epidermolysis Bullosa Simplex (Epidermolysis Bullosa Herpetiformis Dowling Meara)
10/2006 - 04/2003
2Deafness (Deaf Mutism)
03/2006 - 11/2003
2Epidermolysis bullosa simplex with mottled pigmentation
03/2006 - 01/2006
2Epidermolysis Bullosa
01/2005 - 04/2002
2Hypotrichosis
11/2003 - 11/2002
2Macular Degeneration (Age-Related Maculopathy)
11/2003 - 11/2002
1Erythema
01/2020
1Basan syndrome
11/2018
1Cardiomyopathies (Cardiomyopathy)
01/2018
1Edema (Dropsy)
10/2017
1Hyperthermia
05/2016
1Pityriasis Lichenoides (Pityriasis Lichenoides et Varioliformis Acuta)
05/2016
1Keratitis
05/2016
1Squamous Cell Carcinoma (Epidermoid Carcinoma)
05/2016
1Sjogren-Larsson Syndrome
11/2011
1Pain (Aches)
06/2008
1Naegeli syndrome
06/2008
1Lamellar Ichthyosis (Harlequin Ichthyosis)
03/2008
1Inborn Genetic Diseases (Disease, Hereditary)
11/2007
1Dermatitis
09/2007
1Congenital, Hereditary, and Neonatal Diseases and Abnormalities (Congenital Disorders)
05/2006
1Oculodentodigital Dysplasia
05/2006
1Skin Diseases (Skin Disease)
04/2006
1Darier Disease (Darier's Disease)
04/2006
1Blister (Bulla)
03/2006
1Wounds and Injuries (Trauma)
03/2006
1Epidermolysis Bullosa Simplex with Migratory Circinate Erythema
01/2006
1Diffuse Palmoplantar Keratoderma (Tylosis)
01/2006
1Curth Macklin type Ichthyosis hystrix
01/2006
1Hearing Loss (Hearing Impairment)
03/2005
1Exfoliative Dermatitis (Erythroderma)
01/2005
1Hyperostosis
01/2005
1Failure to Thrive
01/2005
1Vohwinkel syndrome
11/2004
1Sensorineural Hearing Loss
05/2004
1Erythrokeratodermia Variabilis
04/2003
1Alopecia (Baldness)
11/2002
1Blindness (Hysterical Blindness)
11/2002

Drug/Important Bio-Agent (IBA)

6ConnexinsIBA
09/2008 - 04/2003
4Proteins (Proteins, Gene)FDA Link
10/2015 - 06/2004
4Phosphates (Orthophosphate)IBA
01/2009 - 01/2005
3DNA (Deoxyribonucleic Acid)IBA
11/2018 - 01/2005
3Connexin 26IBA
09/2008 - 11/2003
3CalciumIBA
06/2008 - 06/2004
3Keratin-5 (Keratin 5)IBA
03/2006 - 04/2003
3Keratin-1IBA
01/2006 - 03/2003
2Keratins (Keratin)IBA
10/2010 - 04/2003
2Tumor Necrosis Factor-alpha (Tumor Necrosis Factor)IBA
06/2008 - 06/2008
2RacivirIBA
10/2006 - 06/2004
2GlycosyltransferasesIBA
06/2005 - 01/2005
2Cadherins (E-Cadherin)IBA
11/2003 - 11/2002
1Erlotinib Hydrochloride (CP 358,774)FDA Link
01/2020
1Sirolimus (Rapamycin)FDA Link
01/2020
1Protein Isoforms (Isoforms)IBA
11/2018
1Adenosine Monophosphate (AMP)IBA
01/2018
1N 30IBA
10/2017
1Nonsense Codon (Nonsense Mutation)IBA
09/2017
1long-chain-aldehyde dehydrogenaseIBA
11/2011
1EnzymesIBA
11/2011
1Fatty Acids (Saturated Fatty Acids)IBA
11/2011
1fatty aldehydeIBA
11/2011
1Matrix Metalloproteinases (MMPs)IBA
01/2009
1Collodion (Nitrocellulose)IBA
03/2008
1Tacrolimus (Prograf)FDA LinkGeneric
09/2007
1Keratin-14 (Keratin 14)IBA
10/2006
1disodium salt olean-11,13(18)-diene-3,30-diol dihemiphthalateIBA
05/2006
1human GJB3 proteinIBA
03/2006
1Connexin 43 (Connexin43)IBA
03/2005
1Amino AcidsFDA Link
04/2003
1NucleotidesIBA
04/2003
1Retinaldehyde (Retinal)IBA
11/2002
1AntigensIBA
04/2002

Therapy/Procedure

2Therapeutics
05/2016 - 01/2013
1Phototherapy (Light Therapy)
05/2016