Results 111 to 120 of about 31,197,963 (238)

A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

Therapeutics and Clinical Risk Management, 2015
Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu
Jia WX, Xiao XM, Wu JB, Ma YP, Ge YP, Li Q, Mao QX, Li CR   +7 more
doaj  

Rare variants modulating phenotype in NF1 carriers

Scientific Reports
Neurofibromatosis type 1 (NF1) is a rare genetic disorder with highly variable phenotypes, ranging from psychosocial challenges and congenital malformations to benign tumors and even aggressive cancers.
Elena Pasquinelli, Giulia Casamassima, Giulia Brunelli, Omaima Belakhdar, Samantha Minetto, Salvatore Grosso, Roberto Canitano, Stefania Marsili, Ignazio Martellucci, Salvadora Tindara Miano, Roberto Petrioli, Margherita Baldassarri, Romina D’Aurizio, Chiara Fallerini, Alessandra Renieri   +14 more
doaj   +1 more source

Epigenetic Mechanisms in Neurofibromatosis Types 1 and 2

Epigenomes
Neurocutaneous syndromes, known as phakomatoses, encompass a diverse group of congenital conditions affecting the nervous system and skin, with neurofibromatosis type 1 (NF1) and neurofibromatosis type 2 (NF2) among the most clinically significant.
Christina Stylianides, Gavriel Hadjigavriel, Paschalis Theotokis, Efstratios Vakirlis, Soultana Meditskou, Maria Eleni Manthou, Iasonas Dermitzakis   +6 more
doaj   +1 more source

Horner syndrome in neurofibromatosis type 1

, 2015
The authors report a rare case of Horner syndrome in a patient with neurofibromatosis type 1 (NF-1). A 31-year-old man visited the clinic with drooping left eyelid.
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core   +1 more source

Intranodal Epithelioid Schwannoma in an Intraparotid Lymph Node: A Case Report and Literature Review

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT An epithelioid schwannoma arising within an intraparotid lymph node is a rare benign lesion that may mimic metastatic melanoma, metastatic carcinoma, or a primary salivary gland neoplasm. Recognizing the intranodal architecture and integrating morphology with an appropriate immunohistochemical panel are essential to avoid misclassification and
Maryam Vajihinejad, Kianoosh Najafi, Mohammad Hossein Ahrar, Ahmad Shamsi   +3 more
wiley   +1 more source

Neurofibromatosis tipo 1. Revision bibliográfica [PDF]

, 2006
La Neurofibromatosis es una entidad clínica que se clasifica dentro del grupo de las Facomatosis, esuna enfermedad dominante autosomal caracterizada por el crecimiento desordenado de tejidos finosectodérmicos que producen lesiones cutáneas ...
Río Ysla, Maily del, Valle Yánez, Ivelin, Amador Díaz, Martha   +2 more
core  

Regulation of ER Stress‐Associated Gene Expression by Lifeguard in Human Breast Cancer Cells

Cancer Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Despite significant advances in breast cancer therapy, resistance to apoptosis remains a major obstacle to successful treatment. Lifeguard (LFG), an antiapoptotic membrane protein, has been implicated in breast cancer progression; however, its role in endoplasmic reticulum (ER) stress‐associated molecular responses and apoptosis ...
Inga Nebel, Sarah Strauß, Frederik Schlottmann, Lena Maria Herrmann, Peter M. Vogt, Vesna Bucan   +5 more
wiley   +1 more source

Australian Guideline for the Identification and Management of Hypertension in Children and Adolescents

Journal of Paediatrics and Child Health, EarlyView.
N. G. Larkins, T. Medley, A. Black, K. A. Bolton, S. Chaturvedi, M. Clark, G. M. Gabb, J. P. Glenning, C. Grimes, R. C. Huang, A. Hyland, C. Jeffries‐Stokes, L. Kalman, S. Kaul, S. Kim, S. McTaggart, R. Kowalski, S. X. Li, S. McNab, D. Metz, A. S. Mihailidou, J. Monin, M. Nelson, M. Pathak, D. Roebuck, M. P. Schlaich, R. Sleaby, C. Quinlan, J. P. Mynard   +28 more
wiley   +1 more source

Hippo Pathway–YAP/TAZ Signaling: Molecular Mechanisms, Biological Function, Diseases, and Therapeutic Targets

MedComm, Volume 7, Issue 10, October 2026.
The Hippo–YAP/TAZ–TEAD pathway integrates mechanical and biochemical cues to govern organ growth, regeneration, cancer, and fibrosis. This review dissects pathway physiology, TEAD structural pharmacology and ligandable pockets, and therapeutic strategies spanning palmitoylation‐pocket inhibitors, PROTAC degraders, and gene/RNA therapies, highlighting ...
Xiaodan Qu, Zhan‐you Wang
wiley   +1 more source

Digital health interventions for psychological and cognitive care in cancer patients and caregivers: A RE‐AIM‐based systematic review

Applied Psychology: Health and Well-Being, Volume 18, Issue 5, October 2026.
Abstract Beyond physical challenges, cancer can cause psychological and cognitive challenges for patients, caregivers, and family members. Digital health interventions show promise in addressing these issues. However, evidence on their applicability in daily cancer care is limited. The objective of this systematic review is to evaluate the internal and
Melissa Heifez, Laura Ciria‐Suarez, Sara Martín‐Parra, Ilaria Durosini, Dario Monzani, Veronica Coppini, Maria Vittoria Ferrari, Mareike Rutenkröger, Marie Lange, Nikolina Dodlek, Lotte van der Weijst, Andreas Charalambous, Marta Perez‐Campdepadrós, Derek Clougher, Miguel Angel Orrego, Gabriella Pravettoni, Cristian Ochoa‐Arnedo   +16 more
wiley   +1 more source