Results 61 to 70 of about 4,210 (234)

Rationalising the role of Keratin 9 as a biomarker for Alzheimer’s disease [PDF]

, 2016
Keratin 9 was recently identified as an important component of a biomarker panel which demonstrated a high diagnostic accuracy (87%) for Alzheimer’s disease (AD).
A Byron, A Panchaud, A Reddy, A Reis, AG Madian, AK Deo, B Catimel, B Vafadar-Isfahani, B von Eyss, BM Riederer, BS Fu, C Ballard, C Behrends, C Bohm, C Johnson, C Mueller, C Parr, CJ Tu, CW Guo, D Bohm, D Croft, D Croft, D Ghosh, DJ Araujo, DJ Fu, EA Otto, EJ Bennett, F Caraci, F Lopitz-Otsoa, G Singh, G van Niel, GN Yin, GV De Ferrari, GV De Ferrari, I Alafuzoff, J Colas, J Jin, J Kim, J Nicholson, JC Jones, JC Mellor, JD Humphries, JG Veening, JL Richens, JL Richens, JR Denery, JS Bett, KS Carmon, L Langbein, L Liu, L Sang, L Sennels, M Bassani-Sternberg, M Brehme, M Cortes-Canteli, M Homberg, M Noguchi, M Thambisetty, M Zhou, N Sato, P Buchhave, PC Havugimana, PG Hawkins, R Killick, R Moll, RL Prentice, S de Mateo, S Fatima, S Jiang, S Liebner, S Pan, SJ Roy, SK Jeong, T Bouwmeester, T Farrah, T Glatter, T Manabe, U Stelzl, WJ Qian, WJ Qian, X Li, X Liu, Y Fang, Y Shimomura, Y Yamaguchi, YS Kim, Z Hu, ZF Du   +87 more
core   +2 more sources

Genetic Testing in Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 664-668, August 2025.
ABSTRACT Mosaicism due to postzygotic mutations is more common than considered before the era of massive parallel sequencing. In the clinical dermatologic practice, it is important to recognize skin lesions and syndromes caused by genetic mosaicism, to initiate genetic testing and counsel the patient and families regarding prognosis and risk of ...
Cristina Has
wiley   +1 more source

Epidermal Nevi and Epidermal Naevus Syndromes

JEADV Clinical Practice, Volume 4, Issue 3, Page 669-680, August 2025.
ABSTRACT Epidermal nevi (EN) arise from postzygotic variants in ectoderm‐derived cell lines, such as keratinocytes and cells forming adnexa. EN may be present alone without any associated abnormality or be part of a syndrome. In this review, we will discuss about the clinical and genetics of the main types of EN and related syndromes.
Gianluca Tadini, Beatrice Carcano, Michela Brena   +2 more
wiley   +1 more source

Hiperqueratose epidermolítica em gêmeas monozigóticas: relato de caso e revisão de literatura. [PDF]

, 2007
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina. Curso de Medicina.
Sens, Mariana Mazzochi
core  

Diagnostic Workup of Mosaicism in Children

JEADV Clinical Practice, Volume 4, Issue 3, Page 659-663, August 2025.
ABSTRACT Mosaicism refers to a phenomenon in which a variant event occurs, resulting in two or more different cell populations within the same individual. This contribution provides a practical approach to the diagnosis and evaluation of paediatric patients with cutaneous mosaicisms, including clues to distinguish other conditions in the differential ...
Francesca Besagni, Alessandra Gelmetti, Annalucia Virdi, Bianca Maria Piraccini, Iria Neri   +4 more
wiley   +1 more source

Acantoma epidermolitico da região escrotal Epidermolytic acanthoma of the scrotum

Anais Brasileiros de Dermatologia, 2006
São apresentados dois casos de acantoma epidermolítico da região escrotal. Trata-se de homens com 52 e 68 anos de idade, tendo 21 e cinco lesões, respectivamente, todas assintomáticas.
Nelson Guimarães Proença, Nilceo Michalany   +1 more
doaj   +1 more source

First successful treatment of epidermolytic Ichthyosis with Vunakizumab: A Case Report [PDF]

Front Immunol
Cheng W, Pan C, Sun Z, Sun P, Li J, Yao Z, Wang X, Zhang J.   +7 more
europepmc   +2 more sources

Genome sequencing of multidrug resistant novel Clostridium sp. BL8 reveals its potential for pathogenicity [PDF]

, 2014
BACKGROUND: The human gut microbiome is important for maintaining the health status of the host. Clostridia are key members of the human gut microbiome, carrying out several important functions in the gut environment.
Dilip R Ranade, Mandar Rasane, Nachiket Marathe, Sudarshan Shetty, Vikram B Lanjekar, Yogesh S Shouche   +5 more
core   +2 more sources

Ichthyosis [PDF]

, 2023
[EN]The ichthyoses are a large, heterogeneous group of skin cornification disorders. They can be inherited or acquired, and result in defective keratinocyte differentiation and abnormal epidermal barrier formation.
Akiyama, Masashi, González Sarmiento, Rogelio, Gutiérrez Cerrajero, Carlos, Hernández Martín, Ángela, Mazereeuw Hautier, Juliette, Paller, Amy S., Sprecher, Eli   +6 more
core   +1 more source

Clinical Classification of Mosaicism

JEADV Clinical Practice, Volume 4, Issue 3, Page 646-651, August 2025.
Mosaic skin abnormalities can present under a segmental pattern or as ¡non‐segmental skin lesions. Non‐segmental mosaicism (Figure 1, a‐c), which is most common, includes individual point lesions, tumors, hamartomatous lesions, or malformations. Segmental mosaicism (Figure 2, a‐f)is less common and presents as asymmetric cutaneous lesions in one or ...
Andrea Diociaiuti, Teresa Oranges, Eulalia Baselga, May El Hachem   +3 more
wiley   +1 more source