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Regina C Betz Selected Research

Dowling-Degos Disease

4/2017Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
1/2014Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease.
12/2007Identification of a keratin-associated protein with a putative role in vesicle transport.
3/2006Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease.

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Regina C Betz Research Topics

Disease

10Alopecia (Baldness)
01/2020 - 07/2005
5Alopecia Areata
01/2021 - 07/2006
5Hypotrichosis simplex
11/2018 - 06/2003
4Dowling-Degos Disease
04/2017 - 03/2006
3Hyperpigmentation
01/2014 - 03/2006
2Autoimmune Diseases (Autoimmune Disease)
01/2018 - 09/2012
2Obesity
04/2017 - 04/2013
2Tyrosinemias (Tyrosinemia)
05/2015 - 05/2011
2Genetic Predisposition to Disease (Genetic Predisposition)
06/2013 - 07/2005
1Anodontia (Hypodontia)
07/2022
1Cryptorchidism (Undescended Testes)
01/2022
1Hypotrichosis
01/2020
1UV-Sensitive Syndrome
09/2019
1Junctional Epidermolysis Bullosa (Epidermolysis Bullosa Letalis)
05/2019
1Monilethrix
09/2017
1Testicular Neoplasms (Testicular Cancer)
05/2017
1Melanoma (Melanoma, Malignant)
05/2017
1Adenocarcinoma of Lung
05/2017
1Ovarian Neoplasms (Ovarian Cancer)
05/2017
1Neuroblastoma
05/2017
1Endometrial Neoplasms (Endometrial Cancer)
05/2017
1Kidney Neoplasms (Kidney Cancer)
05/2017
1Urinary Bladder Neoplasms (Bladder Cancer)
05/2017
1Glioma (Gliomas)
05/2017
1Hidradenitis Suppurativa
04/2017
1Uncombable hair syndrome
12/2016
1Exfoliative Dermatitis (Erythroderma)
05/2016
1Scoliosis
03/2015
1Hearing Loss (Hearing Impairment)
03/2015
1Carcinogenesis
02/2015
1Hepatocellular Carcinoma (Hepatoma)
02/2015
1Diabetes Mellitus
01/2014
1Intellectual Disability (Idiocy)
01/2014
1Woodhouse Sakati syndrome
01/2014
1Hypogonadism (Hypergonadotropic Hypogonadism)
01/2014
1Deafness (Deaf Mutism)
01/2014
1Morbid Obesity
04/2013
1Metabolic Syndrome (Dysmetabolic Syndrome X)
04/2013
1Type 2 Diabetes Mellitus (MODY)
04/2013
1Hypertension (High Blood Pressure)
04/2013
1Palmoplantar Keratoderma (Keratosis Palmaris et Plantaris)
10/2012
1Imprinting Disorders
09/2012
1Beckwith-Wiedemann Syndrome (Exomphalos Macroglossia Gigantism Syndrome)
09/2012
1Photophobia (Light Sensitivity)
05/2011
1Cicatrix (Scar)
03/2011
1Amyloidosis
09/2010
1Lentigo (Lentiginosis)
01/2010
1Atopic Dermatitis (Atopic Eczema)
11/2007
1Down Syndrome (Down's Syndrome)
08/2006
1Neural Tube Defects (Exencephaly)
08/2006

Drug/Important Bio-Agent (IBA)

7Proteins (Proteins, Gene)FDA Link
01/2020 - 02/2009
4Nonsense Codon (Nonsense Mutation)IBA
09/2019 - 06/2003
4AndrogensIBA
01/2017 - 07/2005
3Dichlorodiphenyldichloroethane (DDD)IBA
04/2017 - 03/2006
2Lipase (Acid Lipase)FDA Link
01/2020 - 12/2009
2Lysophosphatidic Acid ReceptorsIBA
01/2020 - 02/2015
2GlucosyltransferasesIBA
04/2017 - 01/2014
2Keratin-5 (Keratin 5)IBA
04/2017 - 03/2006
1Desmoplakins (Desmoplakin)IBA
07/2022
1Membrane Proteins (Integral Membrane Proteins)IBA
01/2022
1AcidsIBA
01/2020
1Laminin (Merosin)IBA
05/2019
1CholesterolIBA
11/2018
1lanosterol synthaseIBA
11/2018
1MicroRNAs (MicroRNA)IBA
01/2018
1Minoxidil (Rogaine)FDA LinkGeneric
09/2017
1ORALIT (ORS)IBA
05/2017
1NicotineFDA Link
04/2017
1Amyloid Precursor Protein Secretases (beta-Secretase)IBA
04/2017
1Galactoside 2-alpha-L-fucosyltransferase (Fucosyltransferase 2)IBA
04/2017
1Arginine (L-Arginine)FDA Link
05/2016
1Intercellular Signaling Peptides and Proteins (Growth Factors)IBA
01/2014
1Type 4 Melanocortin Receptor (Melanocortin-4 Receptor)IBA
04/2013
1Blood Glucose (Blood Sugar)IBA
04/2013
1Hormones (Hormone)IBA
04/2013
1SteroidsIBA
04/2013
1SilverIBA
09/2012
1Interleukin-13IBA
09/2012
1Protein Isoforms (Isoforms)IBA
05/2012
1Gonadal Steroid Hormones (Sex Hormones)IBA
05/2012
1Phenylalanine (L-Phenylalanine)FDA Link
05/2011
1Tyrosine (L-Tyrosine)FDA Link
05/2011
1Tyrosine Transaminase (Tyrosine Aminotransferase)IBA
05/2011
1Peptides (Polypeptides)IBA
09/2010
1Amyloid (Amyloid Fibrils)IBA
09/2010
1RadonIBA
01/2010
1lysophosphatidic acidIBA
12/2009
1Keratins (Keratin)IBA
12/2007
1Filaggrin ProteinsIBA
11/2007
1HomocysteineIBA
08/2006
1Folic Acid (Vitamin M)FDA LinkGeneric
08/2006

Therapy/Procedure

4Therapeutics
01/2021 - 09/2005
1Drug Therapy (Chemotherapy)
01/2020
1Diet Therapy (Therapy, Diet)
05/2015
1Hearing Aids (Hearing Aid)
03/2015
1Osteotomy
03/2015
1Orthopedic Procedures
03/2015
1Precision Medicine
02/2015
1Lasers (Laser)
03/2011
1Hair Removal (Depilation)
02/2009