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Clear-cell Renal Cell Carcinoma
Clear-cell renal-cell carcinoma (CCRCC) is a type of renal-cell carcinoma. Genetics Cytogenetics * Alterations of chromosome 3p segments occurs in 70–90% of CCRCCs * Inactivation of von Hippel–Lindau disease ( VHL) gene by gene mutation and promoter hypermethylation * Gain of chromosome 5q * Loss of chromosomes 8p, 9p, and 14q Molecular genetics Several frequently mutated genes were discovered in CCRCC: VHL, KDM6A/UTX, SETD2, KDM5C/JARID1C and MLL2. PBRM1 is also commonly mutated in CCRCC. Histogenesis CCRCC is derived from the proximal convoluted tubule. Microscopy Generally, the cells have a clear cytoplasm, are surrounded by a distinct cell membrane and contain round and uniform nuclei. Microscopically, CCRCCs are graded by the ISUP/WHO as follows: Updated: Jul 02, 2019 * Grade 1: Inconspicuous and basophilic nucleoli at magnification of 400 times * Grade 2: Clearly visible and eosinophilic nucleoli at magnification of 400 times * Grade 3: Clearly visible ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Renal Cell Carcinoma
Renal cell carcinoma (RCC) is a kidney cancer that originates in the lining of the proximal convoluted tubule, a part of the very small tubes in the kidney that transport primary urine. RCC is the most common type of kidney cancer in adults, responsible for approximately 90–95% of cases. RCC occurrence shows a male predominance over women with a ratio of 1.5:1. RCC most commonly occurs between 6th and 7th decade of life. Initial treatment is most commonly either partial or complete removal of the affected kidney(s). Where the cancer has not metastasised (spread to other organs) or burrowed deeper into the tissues of the kidney, the five-year survival rate is 65–90%, but this is lowered considerably when the cancer has spread. The body is remarkably good at hiding the symptoms and as a result people with RCC often have advanced disease by the time it is discovered. The initial symptoms of RCC often include blood in the urine (occurring in 40% of affected persons at the time th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Von Hippel–Lindau Disease
Von Hippel–Lindau disease (VHL), also known as Von Hippel–Lindau syndrome, is a rare genetic disorder with multisystem involvement. It is characterized by visceral cysts and benign tumors with potential for subsequent malignant transformation. It is a type of phakomatosis that results from a mutation in the Von Hippel–Lindau tumor suppressor gene on chromosome 3p25.3. Signs and symptoms Signs and symptoms associated with VHL disease include headaches, problems with balance and walking, dizziness, weakness of the limbs, vision problems, and high blood pressure. Conditions associated with VHL disease include angiomatosis, hemangioblastomas, pheochromocytoma, renal cell carcinoma, pancreatic cysts (pancreatic serous cystadenoma), endolymphatic sac tumor, and bilateral papillary cystadenomas of the epididymis (men) or broad ligament of the uterus (women). Angiomatosis occurs in 37.2% of patients presenting with VHL disease and usually occurs in the retina. As a result, loss ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gene Mutation
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitosis, or meiosis or other types of damage to DNA (such as pyrimidine dimers caused by exposure to ultraviolet radiation), which then may undergo error-prone repair (especially microhomology-mediated end joining), cause an error during other forms of repair, or cause an error during replication (translesion synthesis). Mutations may also result from insertion or deletion of segments of DNA due to mobile genetic elements. Mutations may or may not produce detectable changes in the observable characteristics (phenotype) of an organism. Mutations play a part in both normal and abnormal biological processes including: evolution, cancer, and the development of the immune system, including junctional diversity. Mutation is the ultimate source of a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Promoter Hypermethylation
Promoter or Promotor may refer to: Art, entertainment, and media * ''The Promoter'' (1952), also known as ''The Card'' * ''The Promoter'' (2012 film) Professions * Promoter (entertainment), one who makes arrangements for events or markets them to attract an audience * Promotor (Dutch, Belgian, or German academia), a full professor of a Dutch, Flanders, or German university who formally promotes a PhD candidate to doctor, and is (formally) the principal supervisor during the doctoral research. * Corporate promoter, an entity who takes active steps in the formation, organization, or financing of a corporation * Tour promoter, individuals or companies responsible for organizing a live concert tour or special event performance Science * Promoter (catalysis), an accelerator of a catalyst, though not a catalyst itself * Promoter (genetics), a regulatory region of DNA usually located upstream of a gene, providing a control point for regulated gene transcription Other uses * Promote ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KDM6A
Lysine-specific demethylase 6A also known as Ubiquitously transcribed tetratricopeptide repeat, X chromosome (UTX), is a protein which in humans is encoded by the ''KDM6A'' gene. It belongs to the 2-oxoglutarate (2OG)-dependent dioxygenase superfamily. Function UTX has been linked with demethylation of lysine residues on histone In biology, histones are highly basic proteins abundant in lysine and arginine residues that are found in eukaryotic cell nuclei. They act as spools around which DNA winds to create structural units called nucleosomes. Nucleosomes in turn a ..., in particular H3K27, resulting in a gene de-repression, a potential means of regulating cellular metabolism. References Further reading * * * * * * * * * * * * * * * Human 2OG oxygenases EC 1.14.11 {{gene-X-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SETD2
SET domain containing 2 is an enzyme that in humans is encoded by the ''SETD2'' gene. Function SETD2 protein is a histone methyltransferase that is specific for lysine-36 of histone H3, and methylation of this residue is associated with active chromatin. This protein also contains a novel transcriptional activation domain and has been found associated with hyperphosphorylated RNA polymerase II. The trimethylation of lysine-36 of histone H3 ( H3K36me3) is required in human cells for homologous recombinational repair and genome stability. Depletion of SETD2 increases the frequency of deletion mutations that arise by the alternative DNA repair process of microhomology-mediated end joining. Clinical significance The SETD2 gene is located on the short arm of chromosome 3 and has been shown to play a tumour suppressor role in human cancer. Interactions SETD2 has been shown to interact with Huntingtin. Huntington's disease (HD), a neurodegenerative disorder characterized by lo ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
KDM5C
Lysine-specific demethylase 5C is an enzyme that in humans is encoded by the ''KDM5C'' gene. KDM5C belongs to the alpha-ketoglutarate-dependent hydroxylase superfamily. Function This gene is a member of the SMCY homolog family and encodes a protein with one ARID domain, one JmjC domain, one JmjN domain and two PHD-type zinc fingers. The DNA-binding motif suggest this protein is involved in the regulation of transcription and chromatin remodeling. Mutations in this gene have been associated with X-linked intellectual disability X-linked intellectual disability refers to medical disorders associated with X-linked recessive inheritance that result in intellectual disability. As with most X-linked disorders, males are more heavily affected than females. Females with one aff .... Alternatively spliced variants that encode different protein isoforms have been described but the full-length nature of only one has been determined. See also * Xp11.2 duplication, section ''KDM5C'' ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MLL2
Histone-lysine N-methyltransferase 2D (KMT2D), also known as MLL4 and sometimes MLL2 in humans and Mll4 in mice, is a major mammalian histone H3 lysine 4 (H3K4) mono-methyltransferase. It is part of a family of six Set1-like H3K4 methyltransferases that also contains KMT2A (or MLL1), KMT2B (or MLL2), KMT2C (or MLL3), KMT2F (or SET1A), and KMT2G (or SET1B). KMT2D is a large protein over 5,500 amino acids in size and is widely expressed in adult tissues. The protein co-localizes with lineage determining transcription factors on transcriptional enhancers and is essential for cell differentiation and embryonic development. It also plays critical roles in regulating cell fate transition, metabolism, and tumor suppression. Mutations in KMT2D cause human genetic conditions including Kabuki syndrome, another distinct congenital malformations disorder and various forms of cancer. Structure Gene In mice, KMT2D is coded by the ''Kmt2d'' gene located on chromosome 15F1. Its transcrip ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PBRM1
Protein polybromo-1 (PB1) also known as BRG1-associated factor 180 (BAF180) is a protein that in humans is encoded by the ''PBRM1'' gene. Structure and function Component of the SWI/SNF-B (PBAF) chromatin-remodeling complex, which contains at least SMARCA4/BRG1, SMARCB1/SNF5/INI1/BAF47, ACTL6A/BAF53A or ACTL6B/BAF53B, SMARCE1/BAF57, SMARCD1/BAF60A, SMARCD2/BAF60B, and actin. Chicken PB1 possesses 5 bromodomains, 2 bromo-adjacent homology (BAH) domains, and 1 truncated high-mobility group (HMG) motif. cPB1 is also homologous to yeast Rsc1, Rsc2, and Rsc4, essential proteins that are required for cell cycle progression through mitosis. Clinical significance PBRM1 is a tumor suppressor gene in many cancer subtypes. Mutations are especially prevalent in clear cell renal cell carcinoma Clear-cell renal-cell carcinoma (CCRCC) is a type of renal-cell carcinoma. Genetics Cytogenetics * Alterations of chromosome 3p segments occurs in 70–90% of CCRCCs * Inactivation of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Proximal Convoluted Tubule
The proximal tubule is the segment of the nephron in kidneys which begins from the renal pole of the Bowman's capsule to the beginning of loop of Henle. It can be further classified into the proximal convoluted tubule (PCT) and the proximal straight tubule (PST). Structure The most distinctive characteristic of the proximal tubule is its luminal brush border. Brush border cell The luminal surface of the epithelial cells of this segment of the nephron is covered with densely packed microvilli forming a border readily visible under the light microscope giving the brush border cell its name. The microvilli greatly increase the luminal surface area of the cells, presumably facilitating their reabsorptive function as well as putative flow sensing within the lumen. The cytoplasm of the cells is densely packed with mitochondria, which are largely found in the basal region within the infoldings of the basal plasma membrane. The high quantity of mitochondria gives the cells an ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cell Nucleus
The cell nucleus (pl. nuclei; from Latin or , meaning ''kernel'' or ''seed'') is a membrane-bound organelle found in eukaryotic cells. Eukaryotic cells usually have a single nucleus, but a few cell types, such as mammalian red blood cells, have no nuclei, and a few others including osteoclasts have many. The main structures making up the nucleus are the nuclear envelope, a double membrane that encloses the entire organelle and isolates its contents from the cellular cytoplasm; and the nuclear matrix, a network within the nucleus that adds mechanical support. The cell nucleus contains nearly all of the cell's genome. Nuclear DNA is often organized into multiple chromosomes – long stands of DNA dotted with various proteins, such as histones, that protect and organize the DNA. The genes within these chromosomes are structured in such a way to promote cell function. The nucleus maintains the integrity of genes and controls the activities of the cell by regulating gene expres ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Grading (tumors)
In pathology, grading is a measure of the cell appearance in tumors and other neoplasms. Some pathology grading systems apply only to malignant neoplasms (cancer); others apply also to benign neoplasms. The neoplastic grading is a measure of cell anaplasia (reversion of differentiation) in the sampled tumor and is based on the resemblance of the tumor to the tissue of origin. Grading in cancer is distinguished from staging, which is a measure of the extent to which the cancer has spread. Pathology grading systems classify the microscopic cell appearance abnormality and deviations in their rate of growth with the goal of predicting developments at tissue level (see also the 4 major histological changes in dysplasia). Cancer is a disorder of cell life cycle alteration that leads (non-trivially) to excessive cell proliferation rates, typically longer cell lifespans and poor differentiation. The grade score (numerical: G1 up to G4) increases with the lack of cellular differentiatio ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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