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SOX11
Transcription factor SOX-11 is a protein that in humans is encoded by the ''SOX11'' gene. Function This intronless gene encodes a member of the group C SOX ( SRY-related HMG-box) transcription factor family involved in the regulation of embryonic development and in the determination of the cell fate. The encoded protein may act as a transcriptional regulator after forming a protein complex with other proteins. The protein may function in the developing nervous system and play a role in tumorigenesis and adult neurogenesis. Tuj1 and Tead2 are suggested as direct target of Sox11. Clinical aspect Lymphocyte staining for SOX11 immunohistochemistry indicates mantle cell lymphoma (cyclin D1 positive and negative) rather than other mature lymphoid neoplasms or normal lymphocytes. Mutations in SOX11 are associated with Coffin–Siris syndrome and mantle cell lymphoma. See also * SOX genes ''SOX'' genes ('' SRY''-related HMG-box genes) encode a family of transcription factors t ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Coffin–Siris Syndrome
Coffin–Siris Syndrome (CSS), first described in 1970 by Dr Coffin and Dr Siris, is a rare genetic disorder that causes developmental delays and absent fifth finger and toe nails. There had been 31 reported cases by 1991. The number of occurrences since then has grown and is now reported to be around 200. The differential includes Nicolaides–Baraitser syndrome. Presentation * mild to moderate to severe intellectual disability, also called "developmental disability" * short fifth digits with hypoplastic or absent nails * low birth weight * feeding difficulties upon birth * frequent respiratory infections during infancy * hypotonia * joint laxity * delayed bone age * microcephaly * coarse facial features, including wide nose, wide mouth, and thick eyebrows and lashes Causes Disease can be inherited as an Dominance (genetics), autosomal dominant trait, however most cases of CSS appear to be the result of a de novo mutation. This syndrome has been associated with mutations in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
