Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development - Wikidata - awgldk - TriplyDB

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

http://www.wikidata.org/entity/Q24655593

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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).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 A secretory kinase complex regulates extracellular protein phosphorylation A Single Kinase Generates the Majority of the Secreted Phosphoproteome Secreted protein kinases Dentin Matrix Proteins in Bone Tissue Engineering The secretory pathway kinases The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice Clinical findings associated with a de novo partial trisomy 10p11.22p15.3 and monosomy 7p22.3 detected by chromosomal microarray analysis.Structure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-binding Raine syndrome.Specific ablation of mouse Fam20C in cells expressing type I collagen leads to skeletal defects and hypophosphatemia.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 The specific role of FAM20C in dentinogenesis.Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysis Phosphorylation and Alternative Splicing of 7B2 Reduce Prohormone Convertase 2 Activation What is the point of pseudokinases?Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Molecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.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 Phosphorylation of spore coat proteins by a family of atypical protein kinases.Loss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowth Immortalized Mouse Floxed Fam20c Dental Papillar Mesenchymal and Osteoblast Cell Lines Retain Their Primary Characteristics.Genomic analysis reveals few genetic alterations in pediatric acute myeloid leukemia FAM20A mutations associated with enamel renal syndrome.The rachitic tooth.Phosphorylation of substrates destined for secretion by the Fam20 kinases.A bone to pick with zebrafish Casein kinase: the triple meaning of a misnomer.

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Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development

http://www.wikidata.org/entity/Q24655593

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

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis

Multiple sequence alignment with the Clustal series of programs

Dentin matrix protein 4, a novel secretory calcium-binding protein that modulates odontoblast differentiation

Osteosclerosis, hypoplastic nose, and proptosis (Raine syndrome): further delineation.

Raine dysplasia: a Brazilian case with a mild radiological involvement.

New distinct lethal osteosclerotic bone dysplasia (Raine syndrome).

A new lethal sclerosing bone dysplasia.

Osteopetrosis: brain ultrasound and computed tomography findings.

Automated splicing mutation analysis by information theory.

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