根据临床表现和遗传基础,神经纤维瘤病有3种不同类型:1型神经纤维瘤病(neurofibromatosis type 1, NF1)、2型神经纤维瘤病(neurofibromatosis type 2, NF2)和施万细胞瘤病。NF1曾称为von Recklinghausen病,是最常见的类型,其标志性特征是多发咖啡牛奶斑和神经纤维瘤。若临床特征局限于身体某一区域,由NF1基因致病变异...
1型神经纤维瘤病(neurofibromatosis type 1, NF1) 是最常见的类型,以前称为von Recklinghausen病。NF1的标志性特征是多发的牛奶咖啡斑和相关的皮肤神经纤维瘤。若临床特征局限于身体某一区域,由致病NF1基因变异的体细胞镶嵌所致,则称为节段型NF1。 本文将着重NF1的具体治疗和预后,NF1的发病机制、临床特征和诊断...
Neurofibromatosis type 1 (NF1) 神经纤维瘤病 1 英文解释 Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. 中文解释 神经纤维瘤病 1 (NF1) 是一种遗传性神经皮肤病,对神经系统、眼睛、皮肤和骨骼有重大影响。
Neurofibromatosis 1 (NF1) is an inherited neurocutaneous disease that has a major impact on the nervous system, eye, skin, and bone. Individuals with NF1 have a predisposition to benign and malignant tumor formation and the hallmark lesion is the neurofibroma, a benign peripheral nerve sheath ...
Considerable inter- and intra-familial variation in expressivity of the disease has been observed which is influenced by genetic modifiers unrelated to the constitutional NF1 mutation. The number of plexiform neurofibromas (PNF) in NF1 patients is a highly heritable genetic trait. Recently, SNP rs...
Type 1 diabetes is an autoimmune disease characterised by selective destruction of pancreatic beta cells by the immune system. The transcription factor nuclear factor-kappa B (NF-κB) regulates innate and adaptive immune responses. Using gene targeting andin vitroanalysis of pancreatic islets and immun...
Type 1 diabetes is an autoimmune disease characterised by selective destruction of pancreatic beta cells by the immune system. The transcription factor nuclear factor-kappa B (NF-κB) regulates innate and adaptive immune responses. Using gene targeting andin vitroanalysis of pancreatic islets and immun...
Significance was analysed compared to IL-1 alone, where, *p < 0.05, **p < 0.01, ***p < 0.001. Data are representative of two independent experiments. Full size image Discussion Disease progression in osteoarthritis remains a largely intractable condition where the joint damage ...
Introduction Neurofibromatosis type 1 (NF1), one of the most common neurocutaneous disorders, is a multisystemic disease associated with tumors in any organ of the body, especially in the central nervous system and also the peripheral nervous system. Pilocytic astrocytomas have been described in al...
Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is caused by a mutation in the NF1 gene located on chromosome 17q11.2 [9, 10]. Neurofibromin is a protein product encoded by NF1 that is expressed in many tissues, including the spleen, kidneys, brain, and thymus...