Results 271 to 280 of about 308,350 (333)

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Comparison of amyloid chronicity and EYO in autosomal dominant Alzheimer's disease. [PDF]

Alzheimers Dement
Wisch JK, McKay NS, Zammit M, Christian BT, Schultz SA, Millar PR, Ryan NS, Cash DM, Belder CRS, Chrem P, Cruchaga C, Ibanez L, Jucker M, Yakushev I, Day GS, Murphy M, Llibre-Guerra J, Aguillon D, Roh JH, Xiong C, Wang G, Li Y, Schindler SE, Jack C, McDade E, Bateman RJ, Benzinger TLS, Ances BM, Dominantly Inherited Alzheimer Networ, Betthauser T, Gordon B.   +30 more
europepmc   +1 more source

Stratum Corneum Ceramide Abnormalities in Atopic Dermatitis: Pathophysiology and Implications for Disease Management

The Journal of Dermatology, EarlyView.
ABSTRACT The stratum corneum, as the outermost layer of the skin, functions as a critical barrier that maintains cutaneous hydration and systemic homeostasis. Among its structural lipids, ceramides constitute the most abundant and diverse component. These molecules are essential for the formation of lamellar structures that secure barrier integrity ...
Takashi Sakai
wiley   +1 more source

Coronary aneurysms and dissections in a patient with autosomal dominant polycystic kidney disease: a case report. [PDF]

J Med Case Rep
Nicolodi MJC, Garcia GC, Knopfholz MJ.
europepmc   +1 more source

Autosomal dominant polycystic kidney disease

, 2015
Stephanie Attard
openalex   +1 more source

Abnormal purinergic signaling contributes to development of renal cysts in autosomal dominant polycystic kidney disease. [PDF]

Purinergic Signal
Ivanov V, Wu A, Crocetti L, Meng Z, Shrestha-Maskey P, Liao TD, Adrianto I, Guerrini G, Ortiz PA, Pavlov TS.   +9 more
europepmc   +1 more source