RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel FAM20C mutation causing hypophosphatemic osteomalacia with osteosclerosis (mild Raine syndrome) in an elderly man with spontaneous osteonecrosis of the knee.
|
30151622 |
2019 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel FAM20C mutation causes a rare form of neonatal lethal Raine syndrome.
|
31297960 |
2019 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Non-lethal Raine Syndrome in a Middle-Aged Woman Caused by a Novel FAM20C Mutation.
|
31471673 |
2019 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Fam20C is a secreted protein kinase mutated in Raine syndrome, a human skeletal disorder.
|
31541016 |
2019 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Clinical indications, striking radiological findings and molecular testing of FAM20C gene confirmed the diagnosis of RS.
|
29751744 |
2018 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).
|
27862258 |
2017 |
RAINE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).
|
27862258 |
2017 |
RAINE SYNDROME
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
FAM20C mutations in humans cause Raine syndrome and our previous studies showed that global inactivation of mouse Fam20C led to bone and dental defects.
|
28620244 |
2017 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.
|
25928877 |
2015 |
RAINE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification.
|
25974638 |
2015 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report on a case of Raine syndrome with a mutation in FAM20C and typical phenotypic features consisting of midface hypoplasia, hypoplastic nose, choanal atresia, wide fontanelle, exophthalmos, generalized osteosclerosis and intracranial calcification.
|
25974638 |
2015 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
A secretory kinase complex regulates extracellular protein phosphorylation.
|
25789606 |
2015 |
RAINE SYNDROME
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
Raine syndrome is caused by biallelic mutations in FAM20C, located on chromosome 7p22.3.
|
25019372 |
2014 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To clarify the mechanism of how FAM20C regulates FGF23, we performed functional analysis of mutant FAM20C proteins reported in Raine syndrome.
|
25026495 |
2014 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We report an adult case of Raine syndrome accompanying hypophosphatemic osteomalacia with a homozygous FAM20C mutation (R408W) associated with increased periosteal bone formation in the long bones and an increase in bone mineral density in the femoral neck.
|
24982027 |
2014 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Hereditary deletion of the entire FAM20C gene in a patient with Raine syndrome.
|
24039075 |
2013 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome.
|
22582013 |
2012 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies showed that the loss-of-function mutations in FAM20C were associated with human lethal osteosclerotic bone dysplasia (Raine Syndrome), implying an inhibitory role of this molecule in bone formation.
|
22615579 |
2012 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Consequently, mutations in Fam20C cause an osteosclerotic bone dysplasia in humans known as Raine syndrome.
|
22582013 |
2012 |
RAINE SYNDROME
|
0.800 |
Biomarker
|
disease |
BEFREE |
Our results identify FAM20C as a kinase for secreted phosphoproteins and establish a biochemical basis for Raine syndrome.
|
22900076 |
2012 |
RAINE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype.
|
20825432 |
2011 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Identification of a homozygous mutation in the FAM20C gene confirmed the Raine syndrome diagnosis, thus contributing to the expansion of the Raine syndrome phenotype.
|
20825432 |
2011 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
However, the identification of mutations in these two patients confirms a broader phenotypic spectrum and that mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis.
|
19250384 |
2009 |
RAINE SYNDROME
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
However, the identification of mutations in these two patients confirms a broader phenotypic spectrum and that mutation of FAM20C does not always lead to the infantile lethality previously seen as a prerequisite for Raine syndrome diagnosis.
|
19250384 |
2009 |
RAINE SYNDROME
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.
|
17924334 |
2007 |