نتایج جستجو برای: npc disease

تعداد نتایج: 1493906  

2016
Meng-Yao Wang Zhi-Rui Lin Yun Cao Li-Sheng Zheng Li-Xia Peng Rui Sun Dong-Fang Meng Ping Xie Jun-Ping Yang Li Cao Liang Xu Bi-Jun Huang Chao-Nan Qian

Nasopharyngeal carcinoma (NPC) is well known as one of the most common malignancies in southern China and Southeast Asia. However, the mechanisms underlying NPC progression remain poorly understood. Herein, through overlapping the differentially expressed genes from 3 microarray data sets with the human kinome, we identified PBK, a serine-threonine kinase, is highly upregulated and has not been...

Journal: :British Journal of Pharmacology 2021

Background and Purpose Niemann‐Pick disease type C (NPC) is a lysosomal storage disorder with disrupted intracellular cholesterol trafficking. A cyclic heptasaccharide, 2‐hydroxypropyl‐β‐cyclodextrin (HP‐β‐CD), solubilizer that being developed to treat NPC, but its ototoxicity pulmonary toxicity remain important issues. We have characterized 2‐hydroxypropyl‐γ‐cyclodextrin (HP‐γ‐CD), octasacchar...

Journal: :Journal of pediatric hematology/oncology 2014
Rajkumar Venkatramani Leo Mascarenhas

Nasopharyngeal carcinoma (NPC) is a rare tumor in children and often presents as advanced-stage disease. NPC in children is treated with neoadjuvant chemotherapy and radiotherapy. The prognosis for children who relapse after treatment is extremely poor. This report describes the successful treatment and long-term disease-free survival of a 16-year-old male patient with a history of stage IVA NP...

2009
Oluwadayo Oluwadara Francesco Chiappelli

Nasopharyngeal carcinoma (NpC) is a malignant disease associated with Epstein-Barr virus infection, and often diagnosed at an advanced stage. This significantly curtails patient survival. We hypothesize that a panel of biomarkers can be assembled to assess NpC incidence, early detection, and tumor progression during therapeutic intervention. Our thesis rests on a model of successfully predictin...

2013
Maarten A. Wildeman Renske Fles Camelia Herdini Rai S. Indrasari Andrew D. Vincent Maesadji Tjokronagoro Sharon Stoker Johan Kurnianda Baris Karakullukcu Kartika W. Taroeno-Hariadi Olga Hamming-Vrieze Jaap M. Middeldorp Bambang Hariwiyanto Sofia M. Haryana I. Bing Tan

INTRODUCTION Nasopharyngeal Carcinoma (NPC) is a major health problem in southern and eastern Asia. In Indonesia NPC is the most frequent cancer in the head and neck area. NPC is very sensitive to radiotherapy resulting in 3-year disease-free and overall survival of approximately 70% and 80%, respectively. Here we present routine treatment results in a prospective study on NPC in a top referral...

2017
Eun-Ah Sung Kyung-Rok Yu Ji-Hee Shin Yoojin Seo Hyung-Sik Kim Myung Guen Koog Insung Kang Jae-Jun Kim Byung-Chul Lee Tae-Hoon Shin Jin Young Lee Seunghee Lee Tae-Wook Kang Soon Won Choi Kyung-Sun Kang

Niemann-Pick disease type C (NPC) is a neurodegenerative and lysosomal lipid storage disorder, characterized by the abnormal accumulation of unesterified cholesterol and glycolipids, which is caused by mutations in the NPC1 genes. Here, we report the generation of human induced neural stem cells from NPC patient-derived fibroblasts (NPC-iNSCs) using only two reprogramming factors SOX2 and HMGA2...

Journal: :The Journal of Cell Biology 1989
L Liscum R M Ruggiero J R Faust

Niemann-Pick disease type C (NPC) is characterized by substantial intracellular accumulation of unesterified cholesterol. The accumulation of unesterified cholesterol in NPC fibroblasts cultured with low density lipoprotein (LDL) appears to result from the inability of LDL to stimulate cholesterol esterification in addition to impaired LDL-mediated downregulation of LDL receptor activity and ce...

2014
Ling-Long Tang Rui Guo Guanqun Zhou Ying Sun Li-Zhi Liu Ai-Hua Lin Haiqiang Mai Jianyong Shao Li Li Jun Ma Masaru Katoh

BACKGROUND The development of intensity-modulated radiotherapy (IMRT) has revolutionized the management of nasopharyngeal carcinoma (NPC). The purpose of this study was to evaluate the prognostic value and classification of TNM stage system for retropharyngeal lymph node (RLN) metastasis in NPC in the IMRT era. MATERIAL AND METHODS We retrospectively reviewed data from 749 patients with biops...

2017
Sandra Torres Nuria Matías Anna Baulies Susana Nuñez Cristina Alarcon-Vila Laura Martinez Natalia Nuño Anna Fernandez Joan Caballeria Thierry Levade Alba Gonzalez-Franquesa Pablo Garcia-Rovés Elisa Balboa Silvana Zanlungo Gemma Fabrías Josefina Casas Carlos Enrich Carmen Garcia-Ruiz José C. Fernández-Checa

Niemann Pick type C (NPC) disease is a progressive lysosomal storage disorder caused by mutations in genes encoding NPC1/NPC2 proteins, characterized by neurological defects, hepatosplenomegaly and premature death. While the primary biochemical feature of NPC disease is the intracellular accumulation of cholesterol and gangliosides, predominantly in endolysosomes, mitochondrial cholesterol accu...

2012
Larry A. Abel Elizabeth A. Bowman Dennis Velakoulis Michael C. Fahey Patricia Desmond Matthew D. Macfarlane Jeffrey Chee Leong Looi Christopher L. Adamson Mark Walterfang

Niemann-Pick Type C disease (NPC) is a rare genetic disorder of lipid metabolism. A parameter related to horizontal saccadic peak velocity was one of the primary outcome measures in the clinical trial assessing miglustat as a treatment for NPC. Neuropathology is widespread in NPC, however, and could be expected to affect other saccadic parameters. We compared horizontal saccadic velocity, laten...

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