Raine syndrome

10/01/2014 - "To clarify the mechanism of how FAM20C regulates FGF23, we performed functional analysis of mutant FAM20C proteins reported in Raine syndrome. "
01/01/2012 - "The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins."
04/15/2014 - "Fam20C phosphorylates secreted proteins on Ser-x-Glu/pSer motifs and loss-of-function mutations in the kinase cause Raine syndrome, an often-fatal osteosclerotic bone dysplasia. "
09/01/2014 - "Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. "

01/01/2012 - "Introduction of point mutations identified in Raine syndrome patients into recombinant FAM20C impairs its normal localization and kinase activity. "
12/26/2022 - "Meanwhile, a potential xylose kinase activity of FAM20C does not impact CS 4S/6S ratio, and is not associated with Raine syndrome mutations. "
01/01/2016 - "Although it has been demonstrated that Raine syndrome associated-FAM20C mutants prevented FAM20C kinase activity and secretion, overexpression of the catalytically inactive D478A FAM20C mutant was detected in both cell extracts and the media. "
01/01/2012 - "Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome."
01/01/2012 - "The Raine syndrome protein FAM20C is a Golgi kinase that phosphorylates bio-mineralization proteins."

01/01/2021 - "Fam20C, a typical member of Fam20 family, has been well-known as a Golgi casein kinase, which is closely associated with Raine Syndrome (RS). "
09/01/2014 - "Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. "

05/17/2023 - "Potential Role of Protein Kinase FAM20C on the Brain in Raine Syndrome, an In Silico Analysis."
11/04/2019 - "Fam20C is a secreted protein kinase mutated in Raine syndrome, a human skeletal disorder. "

01/01/2021 - "Loss-of-function genetic alterations in the Fam20 family lead to human diseases such as amelogenesis imperfecta, nephrocalcinosis, lethal and nonlethal forms of Raine syndrome with major skeletal defects, and altered phosphate homeostasis. "
03/01/2019 - "Taken together, this is the first case of mild Raine syndrome with spontaneous osteonecrosis of the knee, phosphate wasting, and a pronounced trabecular high bone mass phenotype."

12/26/2022 - "Meanwhile, a potential xylose kinase activity of FAM20C does not impact CS 4S/6S ratio, and is not associated with Raine syndrome mutations. "

09/01/2014 - "Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3. This gene encodes a Golgi casein kinase, which phosphorylates serine residues of extracellular proteins involved in biomineralisation. "

01/01/2012 - "Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome."

01/13/1998 - "A phenotypic overlap of this case with Raine syndrome was noted; however, desmosterol accumulation was not found on postmortem tissue samples from a previously reported case of this disorder."

01/01/2016 - "Although it has been demonstrated that Raine syndrome associated-FAM20C mutants prevented FAM20C kinase activity and secretion, overexpression of the catalytically inactive D478A FAM20C mutant was detected in both cell extracts and the media. "