Results 81 to 90 of about 14,871 (251)

Morbus Darier und Depression - besteht eine genetische Verbindung?: Übersicht und klinischer Fall [PDF]

, 2018
Zusammenfassung: Der Morbus Darier ist eine seltene Hauterkrankung, die autosomal-dominant vererbt wird und durch eine Mutation im SERCA (sarco/endoplasmatic reticulum calcium transporter)-2-Gen verursacht wird.
Bach, D., Moggi, F., Müller, T., Seifritz, E., Strik, W., Wirtz, G.   +5 more
core  

Type 2 segmental darier's disease in a twelve-year old Nigerian male - A case report [PDF]

, 2010
No ...
Mohammed, AZ, Oloko, AE, Yusuf, SM
core   +2 more sources

Caso para diagnóstico Case for diagnosis

Anais Brasileiros de Dermatologia, 2010
Eritromelanose folicular faciei et colli é uma doença rara, de origem desconhecida, caracterizada por hiperpigmentação eritêmato-acastanhada e simétrica nas regiões frontal, temporal e malar, associada com envolvimento do folículo piloso.
Roberto Souto da Silva, João Carlos Macedo Fonseca, Daniel Obadia   +2 more
doaj   +1 more source

Cloning, tissue expression, and mapping of a human photolyase homolog with similarity to plant blue-light receptors [PDF]

, 1996
Enzymatic photoreactivation is a DNA repair mechanism that removes UV- induced pyrimidine dimer lesions by action of a single enzyme, photolyase, and visible light.
Bootsma, D. (Dirk), Eker, A.P.M. (André), Kobayashi, K. (Kumiko), Spek, P.J. (Peter) van der, Takao, M. (Masashi), Yasui, A. (Akira)   +5 more
core   +1 more source

Elements of morphology: Standard terminology for the teeth and classifying genetic dental disorders

American Journal of Medical Genetics Part A, Volume 179, Issue 10, Page 1913-1981, October 2019., 2019
Abstract Dental anomalies occur frequently in a number of genetic disorders and act as major signs in diagnosing these disorders. We present definitions of the most common dental signs and propose a classification usable as a diagnostic tool by dentists, clinical geneticists, and other health care providers.
Muriel de La Dure‐Molla, Benjamin Philippe Fournier, Maria Cristina Manzanares, Ana Carolina Acevedo, Raoul C. Hennekam, Lisa Friedlander, Marie‐Laure Boy‐Lefèvre, Stephane Kerner, Steve Toupenay, Pascal Garrec, Brigite Vi‐Fane, Rufino Felizardo, Marie‐Violaine Berteretche, Laurence Jordan, François Ferré, François Clauss, Sophie Jung, Myriam de Chalendar, Sebastien Troester, Marzena Kawczynski, Jessica Chaloyard, International Group of Dental Nomenclature, Marie Cécile Manière, Ariane Berdal, Agnès Bloch‐Zupan   +24 more
wiley   +1 more source

Darier disease: Current insights and challenges in pathogenesis and management

Journal of the European Academy of Dermatology and Venereology, Volume 39, Issue 5, Page 942-951, May 2025.
Darier disease (DD) is characterized by the following: Disrupted Ca2+ gradients, impaired desmosomes, impaired keratinocyte differentiation, type 17 inflammation, DC and LC ↓, Th17 cells ↑. DD treatment: First line: keratinocyte focused and/or anti‐inflammatory. Second line: experimental approaches like specific targeting of the inflammatory infiltrate.
Monika Ettinger, Susanne Kimeswenger, Isabella Deli, Judith Traxler, Sabine Altrichter, Petar Noack, Jakob D. Wikstrom, Emmanuella Guenova, Wolfram Hoetzenecker   +8 more
wiley   +1 more source

A novel mutation in MBTPS2 causes ichthyosis follicularis, alopecia, and photophobia syndrome

Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019
This study demonstrated a novel MBTPS2 mutation in a patient with IFAP syndrome and thus expands the known MBPTS2 molecular repertoire. Abstract Background The ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome is a rare X‐linked genodermatosis characterized by noninflammatory spiny follicular hyperkeratosis, severe photophobia, and non‐
Yanyun Jiang, Hongzhong Jin, Yueping Zeng   +2 more
wiley   +1 more source

Monkeypox: Prevention Strategies and Challenges: Updated Review

Health Science Reports, Volume 8, Issue 4, April 2025.
ABSTRACT Background and Aims The mpox virus, sometimes known as MPXV, is the cause of the disease mpox. The Monkeypox virus is a different Poxviridae family member from the orthopoxvirus (OPXV) group. Clades I and II are the two varieties of the Monkeypox virus.
Abate Wondesen Tsige, Siraye Genzeb Ayele   +1 more
wiley   +1 more source

PPAR‐γ Agonists and Their Role in Primary Cicatricial Alopecia

PPAR Research, Volume 2017, Issue 1, 2017., 2017
Peroxisome proliferator‐activated receptor γ (PPAR‐γ) is a ligand‐activated nuclear receptor that regulates the transcription of various genes. PPAR‐γ plays roles in lipid homeostasis, sebocyte maturation, and peroxisome biogenesis and has shown anti‐inflammatory effects. PPAR‐γ is highly expressed in human sebaceous glands.
Sarawin Harnchoowong, Poonkiat Suchonwanit, Ling Xu   +2 more
wiley   +1 more source

Bachmann–Bupp syndrome and treatment

Developmental Medicine &Child Neurology, Volume 66, Issue 4, Page 445-455, April 2024.
Bachmann‐Bupp Syndrome (BABS) is a new ODC1‐linked gain‐of‐function genetic disorder that is treatable with ODC inhibitor DFMO. BABS is an ultra‐rare disorder with major symptoms that include neurodevelopmental delay, hypotonia, and varying forms of non‐congenital alopecia.
André S. Bachmann, Elizabeth A. VanSickle, Julianne Michael, Marlie Vipond, Caleb P. Bupp   +4 more
wiley   +1 more source