FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells - Wikidata - awgldk - TriplyDB

FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

http://www.wikidata.org/entity/Q21266609

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Inactivation of a novel FGF23 regulator, FAM20C, leads to hypophosphatemic rickets in mice FAM20A mutations can cause enamel-renal syndrome (ERS).Novel FAM20A mutations in hypoplastic amelogenesis imperfecta Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A gene Crystal structure of the Golgi casein kinase Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome FAM20B is a kinase that phosphorylates xylose in the glycosaminoglycan-protein linkage region A Single Kinase Generates the Majority of the Secreted Phosphoproteome Secreted protein kinases Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development The secretory pathway kinases The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins Pregnane X receptor knockout mice display aging-dependent wearing of articular cartilage Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice Gene expression profiling to identify eggshell proteins involved in physical defense of the chicken egg.Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding FAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia.Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation Expression of FAM20C in the osteogenesis and odontogenesis of mouse.The specific role of FAM20C in amelogenesis Golgi post-translational modifications and associated diseases.Altered gene expression pattern in peripheral blood mononuclear cells in patients with acute myocardial infarction.Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.FAM20C plays an essential role in the formation of murine teeth Family with sequence similarity member 20C is the primary but not the only kinase for the small-integrin-binding ligand N-linked glycoproteins in bone FAM20A binds to and regulates FAM20C localization Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth Cell mediated immune responses through TLR4 prevents DMBA-induced mammary carcinogenesis in mice.Characterization of Gene Expression Patterns among Artificially Developed Cancer Stem Cells Using Spherical Self-Organizing Map.Phosphorylation of substrates destined for secretion by the Fam20 kinases.Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).Systematic network-based discovery of a Fam20C inhibitor (FL-1607) with apoptosis modulation in triple-negative breast cancer.The peripheral whole-blood transcriptome of acute pyelonephritis in human pregnancya.Interferon γ induced compositional changes in human bone marrow derived mesenchymal stem/stromal cells N-myc downstream-regulated gene 1/Cap43 may function as tumor suppressor in endometrial cancer.Characterization of Fam20C expression in odontogenesis and osteogenesis using transgenic mice.Osteosclerotic bone dysplasia in siblings with a Fam20C mutation.

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FAM20: an evolutionarily conserved family of secreted proteins expressed in hematopoietic cells

http://www.wikidata.org/entity/Q21266609

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2005 nî lūn-bûn

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Demet Nalbant

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Everardo Cobos

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S Isil Nalbant

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Simon C Williams

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Yang Du

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10.1186/1471-2164-6-11

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