Results 71 to 80 of about 4,315 (233)

Guttate leukoderma in darier disease: A rare presentation

Indian Dermatology Online Journal, 2019
Isha Gupta, Surabhi Dayal, Sanjay Kumar
doaj   +2 more sources

Keratinizációs zavarok ultrastrukturális és genetikai vizsgálata = Ultrastructural and Genetic Studies in Disorders of Cornification [PDF]

, 2007
Az elmúlt három évben megteremtettük hazánkban a legsúlyosabb örökletes bőrgyógyászati kórképek közt egyes keratinizációs zavarok (pl. társult ichthyosisok, dyskeratosis follicularis) ultrastrukturális és genetikai vizsgálatainak alapjait, lehetővé téve ...
Becker, Krisztina, Kárpáti, Sarolta, Medvecz, Márta, Rácz, Emoke   +3 more
core  

Active regulation of the epidermal calcium profile [PDF]

, 2012
A distinct calcium profile is strongly implicated in regulating the multi-layered structure of the epidermis. However, the mechanisms that govern the regulation of this calcium profile are currently unclear.
Adams, Matthew, Mallet, Dann, Pettet, Graeme   +2 more
core   +2 more sources

Defining the interactome of the pancreas‐specific SPCA2 isoform (SPCA2C) identifies unique links to store‐operated Ca2+ entry

The FEBS Journal, Volume 292, Issue 24, Page 6644-6669, December 2025.
A BioID screen identified interacting proteins for secretory pathway calcium (Ca2+) ATPase 2C (SPCA2C) and showed new links to store‐operated Ca2+ entry. Interactions between SPCA2C and Orai1 were confirmed, along with newly identified interactions with STIM1 and CCDC47.
Petra Samardzija, Melissa A. Fenech, Oneeb Hassan, Ryann Lang, McKenzie C. Carter, Stephanie Chen, Selina Shi, Rithwik Ramachandran, Peter B. Stathopulos, Christopher L. Pin   +9 more
wiley   +1 more source

An Uncommon Presentation of Darier-White Disease with Hystrix-like Palmoplantar Keratoderma [PDF]

, 2021
Darier-White disease is a relatively common autosomal dominant genodermatosis caused by mutation in the ATP2A2 gene. It is characterized by multiple warty papules coalescing into plaques in the seborrheic areas and by specific histological skin changes ...
Ellenbogen, Eran, Gat, Andrea, Goldberg, Ilan, Jammal, Anwar, Martinez, Helena, Pessach, Yakov, Sprecher, Eli   +6 more
core   +3 more sources

Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease [PDF]

, 2014
BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical ...
Kokkonen, E. W. J., McLean, W. H. I., Reisenauer, A. K., Smith, F. J. D., Wilson, N. J., Wordingham, S. V., York, J.   +6 more
core   +2 more sources

Prevalence, Age of Onset, Age at Diagnosis, and Family History of Hidradenitis Suppurativa in Pediatric Populations: A Systematic Review and Meta‐Analysis

Pediatric Dermatology, Volume 42, Issue 6, Page 1142-1148, November/December 2025.
ABSTRACT Introduction Hidradenitis suppurativa (HS) is a chronic inflammatory skin condition characterized by recurrent nodules and abscesses in intertriginous areas, ultimately resulting in scarring and formation of sinus tracts. HS significantly impacts quality of life and can also affect pediatric populations.
Grace Xiong, Mohamed Ali, Erfan Ghani Kakhki, Annie Xiong, Raed Alhusayen, David Croitoru, Cathryn Sibbald, Vincent Piguet, Ilya Mukovozov   +8 more
wiley   +1 more source

Cutaneous Mastocytosis in Childhood. Retrospective Study of 32 Patients [PDF]

, 2012
Introdução: A designação de mastocitose engloba várias entidades clinicamente distintas caracterizadas pela acumulação tissular de mastócitos. A pele é o órgão mais frequentemente envolvido.
Amaro, C, Cardoso, J, Coelho Macias, V, Freitas, I, Vieira, R   +4 more
core  

The ABCC6 Transporter: A New Player in Biomineralization [PDF]

, 2017
Pseudoxanthoma elasticum (PXE) is an inherited metabolic disease with autosomal recessive inheritance caused by mutations in the ABCC6 gene. Since the first description of the disease in 1896, alleging a disease involving the elastic fibers, the concept ...
Arányi, Tamás, Favre, Guillaume, Fülöp, Krisztina, Laurain, Audrey, Szeri, Flóra   +4 more
core   +1 more source

An 11‐Month‐Old Infant With Unusual Diaper Dermatitis

JEADV Clinical Practice, EarlyView.
Majda Chaoui, Léo‐Paul Secco, Ifigenia Spanoudi‐Kitrimi   +2 more
wiley   +1 more source