Results 41 to 50 of about 49,279 (304)

Investigating the Cellular Effects of GALC Dosing in Enzyme Replacement Therapy for Krabbe Disease Supports the Role of Nanomedicine

Advanced Biology, EarlyView.
A detailed workflow for recombinant GALC production and characterization is presented to support enzyme replacement therapy for Krabbe disease. In vitro assays demonstrate that physiological GALC doses restore enzymatic activity and autophagic flux without affecting cell viability, whereas higher doses impair autophagy and reduce viability.
Ambra Del Grosso, Sara Carpi, Laura Colagiorgio, Miriam De Sarlo, Mariacristina Gagliardi, Marco Cecchini   +5 more
wiley   +1 more source

Congenital bilateral symmetric Becker's nevus with neurological involvement

Indian Journal of Paediatric Dermatology, 2016
Becker's nevus is an epidermal nevus presenting as hyperpigmented macules. Onset in infancy, bilateral distribution, location on forearms, and associated neurological manifestations makes this case of Becker's nevus worth reporting.
Minu Jose Chiramel, Roshni Menon, Brinda G David, Sandhya Panjeta Gulia   +3 more
doaj   +1 more source

An Unusual Melanocytic Nevus of Conjunctiva : Balloon Cell Nevus [PDF]

, 2011
Melanocytic nevi are one of the most common benign tumors of the conjunctiva. The balloon cell nevus is a rare and unusual variant of nevus of melanocytic origin, in which more than 50% of the tumor is composed of large polygonal cells with small nucleus
Geethalakshmi, U, Nischal, KC, Padmini, HR, Vijay Shankar, S   +3 more
core  

Prevalensi dan Gambaran Histopatologi Nevus Pigmentosus di Bagian Patologi Anatomi Rumah Sakit Dr. Mohammad Hoesin Palembang Periode 1 Januari 2009-31 Desember 2013 [PDF]

, 2015
Nevus pigmentosus adalah tumor jinak yang berasal dari melanosit, yaitu sel dendritik yang menghasilkan pigmen, secara normal terdapat di antara keratinosit pada lapisan basal epidermis.
Aspitriani, A. (Aspitriani), Fatmawati, F. (Fatmawati), Tsaniyah, R. A. (R)   +2 more
core   +2 more sources

Regenerative Hair Pigmentation via Skin Organoids: Adaptive Patterning Mediated by Collagen VI and Semaphorin 3C

Advanced Science, EarlyView.
The release of COL6A3 by fibroblasts is sensed by the CD44 receptor on melanocytes, activating glutathione (GSH) metabolism and increasing melanocyte survival during skin organoid culture. SEMA3C released by bulge cells binds to the NRP1 receptor on melanocytes, regulating microtubule stability and promoting melanocyte recruitment and function during ...
Tingting Li, Xinzhu Li, Xiao Xiang, Jundong Huang, Xinyu Shen, Mengyue Wang, Jingwei Jiang, Shiwen Shao, Zeming Li, Tian Xie, Deming Liu, Yiping Zhao, Rui Ma, Wenyu Wu, Wei Shi, Cheng‐Ming Chuong, Ji Li, Mingxing Lei   +17 more
wiley   +1 more source

Nevus Senescence [PDF]

ISRN Dermatology, 2011
Melanomas and nevi share many of the same growth-promoting mutations. However, melanomas grow relentlessly while benign nevi eventually undergo growth arrest and stabilize. The difference in their long-term growth potential may be attributed to activation of cellular senescence pathways.
Andrew L. Ross, Margaret I. Sanchez, James M. Grichnik   +2 more
openaire   +2 more sources

Safety and efficacy of vismodegib in patients aged ≥65 years with advanced basal cell carcinoma. [PDF]

, 2016
Because many patients with unresectable basal cell carcinoma (BCC) are aged ≥65 years, this study explores the efficacy and safety of vismodegib in these patients with locally advanced (la) or metastatic (m) basal cell carcinoma (BCC) in the ERIVANCE BCC
Arron, Sarah, Chang, Anne, Day, Bann-Mo, Lewis, Karl, McKenna, Edward, Migden, Michael, Sekulic, Aleksandar, Solomon, James, Yoo, Simon   +8 more
core   +2 more sources

Worth the Effort: Lessons for Discovery and Care From an Unusual Case of Gorlin Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gorlin‐Goltz Syndrome (GGS) is a rare autosomal dominant genetic disorder encompassing a diverse range of clinical manifestations, including congenital anomalies and predisposition to cancer. Pathogenic variants in PTCH1 and SUFU account for up to 79% and 6% of cases, respectively. Currently, an estimated 15%–27% of individuals with a clinical
V. Taliercio, J. Zhao, S. E. Boyden, R. Mao, P. Bayrak‐Toydemir, A. Pflaum, J. Palumbos, A. Andrews, E. E. Baldwin, C. Welt, Mackenzie Fait, Undiagnosed Diseases Network, L. D. Botto, D. Viskochil   +13 more
wiley   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Agminated atypical melanocytic nevus associated with Langerhans cell histiocytosis [PDF]

Anais Brasileiros de Dermatologia, 2019
: Agminated nevus refers to the presence of multiple nevi grouped in a circumscribed skin area; it is rarely reported in the literature. This report presents the case of a 10-year-old female patient with a history of Langerhans cell histiocytosis, who ...
Ehekatzin Arturo Carreño-Gayosso, Sarah Lizette Hernández-Peralta, Elizabeth Guevara-Gutiérrez, Guillermo Solís-Ledezma   +3 more
doaj   +2 more sources