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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 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 the ARID1B gene, whic ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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] |
Syndromes With Intellectual Disability
A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder. The word derives from the Greek σύνδρομον, meaning "concurrence". When a syndrome is paired with a definite cause this becomes a disease. In some instances, a syndrome is so closely linked with a pathogenesis or cause that the words ''syndrome'', ''disease'', and ''disorder'' end up being used interchangeably for them. This substitution of terminology often confuses the reality and meaning of medical diagnoses. This is especially true of inherited syndromes. About one third of all phenotypes that are listed in OMIM are described as dysmorphic, which usually refers to the facial gestalt. For example, Down syndrome, Wolf–Hirschhorn syndrome, and Andersen–Tawil syndrome are disorders with known pathogeneses, so each is more than just a set of signs and symptoms, despite the ''syndrome'' nomenclature. In other instances, a synd ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Orphanet
Orphanet is a knowledge base dedicated to rare diseases as well as corresponding diagnosis, orphan drugs, clinical trials and expert networks The website is managed by a network of academic establishments from 40 countries, led by Inserm. It contains content both for physicians and for patients. Its administrative office is in Paris and its official medical journal is the '' Orphanet Journal of Rare Diseases'' published on their behalf by BioMed Central. As of October 2020, the site provides information about over 6100 rare diseases and 5400 genes. Functions available Orphanet is an online database with the aspiration of gathering, providing and improving knowledge on rare diseases and to improve the diagnosis, care and treatment of patients with rare diseases. By listing rare diseases, and maintaining a standard nomenclature of rare diseases (ORPHAcodes) Orphanet makes a contribution in making them more visible in health and research information systems. The information is a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SOX4
Transcription factor SOX-4 is a protein that in humans is encoded by the ''SOX4'' gene. Function This intronless gene encodes a member of the SOX (SRY-related HMG-box) family of transcription factors 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, such as syndecan binding protein (syntenin). The protein may function in the apoptosis pathway leading to cell death as well as to tumorigenesis and may mediate downstream effects of parathyroid hormone (PTH) and PTH-related protein (PTHrP) in bone development. The solution structure has been resolved for the HMG-box of a similar mouse protein. Sox4 is expressed in lymphocytes (B and T) and is required for B lymphocyte development. Clinical significance A genomic region close to the ''SOX4'' gene has been associated with endometrial cancer development. Interactions SOX4 h ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMARCE1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily E member 1 is a protein that in humans is encoded by the ''SMARCE1'' gene. Function The protein encoded by this gene is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. The encoded protein, either alone or when in the SWI/SNF complex, can bind to 4-way junction DNA, which is thought to mimic the topology of DNA as it enters or exits the nucleosome. The protein contains a DNA-binding HMG domain, but disruption of this domain does not abolish the DNA-binding or nucleosome-displacement activities of the SWI/SNF complex. Unlike most of the SWI/SNF complex proteins, this protein has no yeast counterpart. Interactions SMARCE1 has been shown to interact with Estrogen receptor alpha, SMARCB1 and SMARCA4 Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMARCC2
SWI/SNF complex subunit SMARCC2 is a protein that in humans is encoded by the ''SMARCC2'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins, whose members display helicase and ATPase activities and which are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI and contains a predicted leucine zipper motif typical of many transcription factors. Two transcript variants encoding different isoforms have been found for this gene. Interactions SMARCC2 has been shown to interact with BAZ1B and SMARCA4 Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the ''SMARCA4'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and i .... References Further reading * * * ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMARCB1
SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 is a protein that in humans is encoded by the ''SMARCB1'' gene. Function The protein encoded by this gene is part of a complex that relieves repressive chromatin structures, allowing the transcriptional machinery to access its targets more effectively. The encoded nuclear protein may also bind to and enhance the DNA joining activity of HIV-1 integrase. This gene has been found to be a tumor suppressor and mutations in it have been associated with malignant rhabdoid tumors. Two transcript variants encoding different isoforms have been found for this gene. Interactions SMARCB1 has been shown to interact with: * ARID1A, * BAZ1B, * BRCA1, * CREB-binding protein, * Cyclin-dependent kinase 8, * Myc, * P53, * POLR2A, * PPP1CA, * PPP1CB, * PPP1CC, * PPP1R15A, * SMARCA2, * SMARCA4, * SMARCC1, * SMARCE1, * SS18, and * XPO1 Exportin 1 (XPO1), also known as chromosomal regi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMARCA4
Transcription activator BRG1 also known as ATP-dependent chromatin remodeler SMARCA4 is a protein that in humans is encoded by the ''SMARCA4'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SWI/SNF, which is required for transcriptional activation of genes normally repressed by chromatin. In addition, this protein can bind BRCA1, as well as regulate the expression of the tumorigenic protein CD44. BRG1 works to activate or repress transcription. Having functional BRG1 is important for development past the pre-implantation stage. Without having a functional BRG1, exhibited with knockout research, the embryo will not hatch out ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
SMARCA2
Probable global transcription activator SNF2L2 is a protein that in humans is encoded by the ''SMARCA2'' gene. Function The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Two transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. Interactions SMARCA2 has been shown to interact with: * ACTL6A, * ARID1B, * CEBPB, * POLR2A, * Prohibitin, * SIN3A, * SMARCB1, * SMARCC1, and * SS18 Protein SSXT is a protein that in humans is encoded by the ''S ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
PHF6
PHD finger protein 6 is a protein that in humans is encoded by the ''PHF6'' gene. This gene is a member of the plant homeodomain (PHD)-like finger (PHF) family. It encodes a protein with two atypical PHD-type zinc finger domains, indicating a potential role in transcriptional regulation, that localizes to the nucleolus. Mutations Mutations affecting the coding region of this gene or the splicing of the transcript have been associated with Börjeson-Forssman-Lehmann syndrome (BFLS), a disorder characterized by mental retardation, epilepsy, hypogonadism, hypometabolism, obesity, swelling of subcutaneous tissue of the face, narrow palpebral fissures, and large ears. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. The ''PHF6'' gene in humans is also frequently mutated in human hematological malignancies, including T-cell acute lymphoblastic Leukemia (T-ALL) and Acute Myeloid Leukemia Acute myeloid leukemia (AML) is a canc ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
DPF2
Zinc finger protein ubi-d4 is a protein that in humans is encoded by the ''DPF2'' gene. The protein encoded by this gene is a member of the d4 domain family, characterized by a zinc finger-like structural motif. This protein functions as a transcription factor which is necessary for the apoptotic response following deprivation of survival factors. It likely serves a regulatory role in rapid hematopoietic cell growth and turnover. This gene is considered a candidate gene for multiple endocrine neoplasia type I, an inherited cancer syndrome involving multiple parathyroid, enteropancreatic, and pituitary In vertebrate anatomy, the pituitary gland, or hypophysis, is an endocrine gland, about the size of a chickpea and weighing, on average, in humans. It is a protrusion off the bottom of the hypothalamus at the base of the brain. The hypoph ... tumors. References Further reading * * * * * * * * * * External links * Transcription factors {{gene-11-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
