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SOX10
Transcription factor SOX-10 is a protein that in humans is encoded by the ''SOX10'' gene. Function This gene encodes a member of the SOX gene family, SOX (Testis-determining factor, SRY-related HMG-box) family of transcription factors involved in the regulation of embryonic development and determination of cell fate determination, cell fate. The encoded protein acts as a transcriptional activator after forming a protein complex with other proteins. This protein acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development. In melanocyte, melanocytic cells, there is evidence that SOX10 gene expression may be regulated by Microphthalmia-associated transcription factor, MITF. Mutations Mutations in this gene are associated with Waardenburg–Shah syndrome and uveal melanoma. Immunostain SOX10 is used as an immunohistochemistry marker, being positive in: Topic Completed: 1 February 2014. Revised: 20 September 2019 *Neuro ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Waardenburg Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or Heterochromia iridum, one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with Camptodactyly, permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the Cell division, division and Cell migration, migration of neural crest cells d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Waardenburg–Shah Syndrome
Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies, which can include bright blue eyes (or one blue eye and one brown eye), a white forelock or patches of light skin. These basic features constitute type 2 of the condition; in type 1, there is also a wider gap between the inner corners of the eyes called telecanthus, or dystopia canthorum. In type 3, which is rare, the arms and hands are also malformed, with permanent finger contractures or fused fingers, while in type 4, the person also has Hirschsprung's disease. There also exist at least two types (2E and PCWH) that can result in central nervous system (CNS) symptoms such as developmental delay and muscle tone abnormalities. The syndrome is caused by mutations in any of several genes that affect the division and migration of neural crest cells during embryonic development (though some of the genes involved also affect t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lentigo Maligna
Lentigo maligna is where melanocyte cells have become malignant and grow continuously along the stratum basale of the skin, but have not Invasion (cancer), invaded below the epidermis. Lentigo maligna is not the same as lentigo maligna melanoma, as detailed below. It typically progresses very slowly and can remain in a non-invasive form for years. It is normally found in the elderly (peak incidence in the 9th decade), on skin areas with high levels of sun exposure like the face and forearms. Incidence of evolution to lentigo maligna melanoma is low, about 2.2% to 5% in elderly patients. It is also known as "Hutchinson's melanotic freckle". This is named for Jonathan Hutchinson. The word lentiginous comes from the latin for freckle. Relation to melanoma Lentigo maligna is a histopathological variant of melanoma ''in situ''. Lentigo maligna is sometimes classified as a very early melanoma, and sometimes as a precursor to melanoma. When malignant melanocytes from a lentigo maligna ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PAX3
The PAX3 (paired box gene 3) gene encodes a member of the paired box or PAX family of transcription factors. The PAX family consists of nine human (PAX1-PAX9) and nine mouse (Pax1-Pax9) members arranged into four subfamilies. Human PAX3 and mouse Pax3 are present in a subfamily along with the highly homologous human PAX7 and mouse Pax7 genes. The human PAX3 gene is located in the 2q36.1 chromosomal region, and contains 10 exons within a 100 kb region. Transcript splicing Alternative splicing and processing generates multiple PAX3 isoforms that have been detected at the mRNA level. PAX3e is the longest isoform and consists of 10 exons that encode a 505 amino acid protein. In other mammalian species, including mouse, the longest mRNAs correspond to the human PAX3c and PAX3d isoforms, which consist of the first 8 or 9 exons of the PAX3 gene, respectively. Shorter PAX3 isoforms include mRNAs that skip exon 8 (PAX3g and PAX3h) and mRNAs containing 4 or 5 exons (PAX3a and PAX3b). In li ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX Gene Family
''SOX'' genes ('' SRY''-related HMG-box genes) encode a family of transcription factors that bind to the minor groove in DNA, and belong to a super-family of genes characterized by a homologous sequence called the HMG-box (for high mobility group). This HMG box is a DNA binding domain that is highly conserved throughout eukaryotic species. Homologues have been identified in insects, nematodes, amphibians, reptiles, birds and a range of mammals. However, HMG boxes can be very diverse in nature, with only a few amino acids being conserved between species. Sox genes are defined as containing the HMG box of a gene involved in sex determination called '' SRY'', which resides on the Y-chromosome. There are 20 SOX genes present in humans and mice, and 8 present in Drosophila. Almost all Sox genes show at least 50% amino acid similarity with the HMG box in Sry. The family is divided into subgroups according to homology within the HMG domain and other structural motifs, as well as acc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Testis-determining Factor
Sex-determining region Y protein (SRY), or Testis-determining factor (TDF), is a DNA-binding protein (also known as gene-regulatory protein/transcription factor) encoded by the ''SRY'' gene that is responsible for the initiation of male sex determination in therian mammals (placental mammals and marsupials). SRY is an intronless sex-determining gene on the Y chromosome. Mutations in this gene lead to a range of disorders of sex development with varying effects on an individual's phenotype and genotype. TDF is a member of the SOX (SRY-like box) gene family of DNA-binding proteins. When complexed with the SF1 protein, TDF acts as a transcription factor that causes upregulation of other transcription factors, most importantly SOX9. Its expression causes the development of primary sex cords, which later develop into seminiferous tubules. These cords form in the central part of the yet-undifferentiated gonad, turning it into a testis. The now-induced Leydig cells of the testi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Stratum Basale
The ''stratum basale'' (basal layer, sometimes referred to as ''stratum germinativum'') is the deepest layer of the five layers of the epidermis, the external covering of skin in mammals. The ''stratum basale'' is a single layer of columnar or cuboidal basal cells. The cells are attached to each other and to the overlying stratum spinosum cells by desmosomes and hemidesmosomes. The nucleus is large, ovoid and occupies most of the cell. Some basal cells can act like stem cells with the ability to divide and produce new cells, and these are sometimes called basal keratinocyte stem cells. Others serve to anchor the epidermis glabrous skin (hairless), and hyper-proliferative epidermis (from a skin disease).McGrath, J.A.; Eady, R.A.; Pope, F.M. (2004). ''Rook's Textbook of Dermatology'' (Seventh Edition). Blackwell Publishing. Pages 3.7. . They divide to form the keratinocytes of the stratum spinosum, which migrate superficially. Other types of cells found within the ''stratum bas ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Pleomorphism (cytology)
Pleomorphism is a term used in histology and cytopathology to describe variability in the size, shape and staining of cells and/or their nuclei. Several key determinants of cell and nuclear size, like ploidy and the regulation of cellular metabolism, are commonly disrupted in tumors. Therefore, cellular and nuclear pleomorphism is one of the earliest hallmarks of cancer progression and a feature characteristic of malignant neoplasms and dysplasia. Certain benign cell types may also exhibit pleomorphism, e.g. neuroendocrine cells, Arias-Stella reaction. A rare type of rhabdomyosarcoma that is found in adults is known as pleomorphic rhabdomyosarcoma. Despite the prevalence of pleomorphism in human pathology, its role in disease progression is unclear. In epithelial tissue, pleomorphism in cellular size can induce packing defects and disperse aberrant cells. But the consequence of atypical cell and nuclear morphology in other tissues is unknown. See also *Anaplasia *Cell growt ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Resection Margin
A resection margin or surgical margin is the margin of apparently non-tumorous tissue around a tumor that has been surgically removed, called " resected", in surgical oncology. The resection is an attempt to remove a cancer tumor so that no portion of the malignant growth extends past the edges or margin of the removed tumor and surrounding tissue. These are retained after the surgery and examined microscopically by a pathologist to see if the margin is indeed free from tumor cells. If cancerous cells are found at the edges the operation is much less likely to achieve the desired results. Residual tumour at the primary site after treatment (it does not address the surgical margin as commonly believed) is classified by the pathologist as (AJCC 8th Edition): * R0 - no cancer cells seen microscopically at the primary tumour site. * R1 - cancer cells present microscopically at the primary tumour site. * R2 - Macroscopic residual tumour at primary cancer site or regional lymph nodes. It ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residues. Proteins perform a vast array of functions within organisms, including catalysing metabolic reactions, DNA replication, responding to stimuli, providing structure to cells and organisms, and transporting molecules from one location to another. Proteins differ from one another primarily in their sequence of amino acids, which is dictated by the nucleotide sequence of their genes, and which usually results in protein folding into a specific 3D structure that determines its activity. A linear chain of amino acid residues is called a polypeptide. A protein contains at least one long polypeptide. Short polypeptides, containing less than 20–30 residues, are rarely considered to be proteins and are commonly called peptides. The individual amino acid residues are bonded together by peptide bonds and adjacent amino acid residues. The sequence of amino acid residue ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Melanoma
Melanoma, also redundantly known as malignant melanoma, is a type of skin cancer that develops from the pigment-producing cells known as melanocytes. Melanomas typically occur in the skin, but may rarely occur in the mouth, intestines, or eye (uveal melanoma). In women, they most commonly occur on the legs, while in men, they most commonly occur on the back. About 25% of melanomas develop from moles. Changes in a mole that can indicate melanoma include an increase in size, irregular edges, change in color, itchiness, or skin breakdown. The primary cause of melanoma is ultraviolet light (UV) exposure in those with low levels of the skin pigment melanin. The UV light may be from the sun or other sources, such as tanning devices. Those with many moles, a history of affected family members, and poor immune function are at greater risk. A number of rare genetic conditions, such as xeroderma pigmentosum, also increase the risk. Diagnosis is by biopsy and analysis of any skin lesion ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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