相关实验视频
Updated: Jun 11, 2025

05:39
Spontaneous Murine Model of Anaplastic Thyroid Cancer
Published on: February 3, 2023
1.6K
甲状腺恶性病变和皮质 Amyloidosis:关键点在甲状腺癌/多重内分泌新陈代谢2型 (MEN2) 中的RET病原体变异中
Laura-Semonia Stanescu1,2, Adina Ghemigian2,3, Mihai-Lucian Ciobica4,5
1PhD Doctoral School, "Carol Davila" University of Medicine and Pharmacy, 0505474 Bucharest, Romania.
International journal of molecular sciences
|September 28, 2024
概括
皮肤 Amyloidosis (CLA) 与甲状腺髓癌 (MTC) 和多发性内分泌新陈代谢2型 (MEN2) 有关,通常与RET基因突变有关,特别是在634号码子. 早期发现CLA可以促使对MEN2进行基因检测,有助于及时诊断和管理.
科学领域:
- 遗传学和内分泌学
- 皮肤病学和瘤学
背景情况:
- 皮肤 Amyloidosis (CLA) 和多发性内分泌新陈代谢2型 (MEN2) 之间存在长期的联系,这种疾病的特征是髓状甲状腺癌 (MTC).
- 尽管经过数十年的观察,对CLA和MEN2之间的相互作用,特别是RET基因变异的作用的全面理解仍然不完整.
研究的目的:
- 进行对RET致病变体及其在诊断MTC/MEN2中的临床和分子影响的叙述性审查,特别关注CLA.的同时发生.
- 综合当前关于特定RET突变与MEN2患者中CLA呈现之间的关联的知识.
主要方法:
- 在PubMed上进行了全面的文献搜索,包括英语文章,在广泛的原始文章中,没有时间表或研究设计的限制.
- 审查的重点是确定和分析详细介绍RET致病变体的研究,它们与MTC/MEN2的关联,以及CLA的存在和特征.
主要成果:
- 大多数MEN2A-CLA病例都涉及RET病原性变异在634号码子,这表明这种囊残留在两种情况中都起着关键作用.
- 非C634 RET变种,包括V804M,S891A (可能与OSMR G513D相互作用) 和C611Y,也与MTC-CLA有关,尽管统计证据较低.
- 常常在生命早期诊断出CLA,在MTC识别之前,MTC/MEN2患者的受影响皮肤区域通常位于背部上部 (肩膀区域).
结论:
- 患者对CLA的认识至关重要,因为它可以作为RET测试的早期指标,促进MTC/MEN2的诊断.
- 需要进一步的研究,以阐明在MEN2中CLA发展的精确机制,包括OSMR变体的潜在作用和CLA是慢性的次要因素的假设.
相关概念视频
Non-LTR Retrotransposons
11.4K
As the name suggests, non-LTR retrotransposons lack the long terminal repeats characteristic of the LTR retrotransposons. Additionally, both LTR and non-LTR retrotransposons use distinct mechanisms of mobilization. Non-LTR retrotransposons are further divided into two classes - Long interspersed nuclear elements (LINEs) and short interspersed nuclear elements (SINEs), both of which occur abundantly in most mammals, including humans. Some of the active non-LTR retrotransposons in humans are L1...
11.4K
Smooth Endoplasmic Reticulum
5.7K
Smooth endoplasmic reticulum or smooth ER is a sub-organelle with specialized functions in animal cells and plant cells. It is often associated with the tubule morphology of the endoplasmic reticulum.
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
5.7K
Abnormal Proliferation
4.5K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.5K
lncRNA - Long Non-coding RNAs
8.5K
In humans, more than 80% of the genome gets transcribed. However, only around 2% of the genome codes for proteins. The remaining part produces non-coding RNAs which includes ribosomal RNAs, transfer RNAs, telomerase RNAs, and regulatory RNAs, among other types. A large number of regulatory non-coding RNAs have been classified into two groups depending upon their length – small non-coding RNAs, such as microRNA, which are less than 200 nucleotides in length, and long non-coding RNA...
8.5K
The Retinoblastoma Gene
4.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
4.1K
Synthesis and Regulation of Thyroid Hormones
4.3K
Low blood levels of the thyroid hormones — triiodothyronine (T3) and thyroxine (T4) — signal the hypothalamus to release the thyrotropin-releasing hormone (TRH). TRH then reaches the pituitary gland and stimulates the release of thyroid-stimulating hormone(TSH) into the bloodstream.
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
Upon reaching the thyroid gland, TSH stimulates the follicular cells' active uptake of iodide ions from the blood. The ions diffuse to the apical surface of the cells and are oxidized to iodine. The...
4.3K

