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Plays a role in bone mineralization (By similarity).. De plus, nous expédions IFITM5 Anticorps (40) et beaucoup plus de produits pour cette protéine.
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Two mutations in IFITM5 causing distinct forms of osteogenesis imperfect.
The point mutation, c.-14C>T in the 5'-untranslated region of IFITM5, is responsible for osteogenesis imperfecta type V in Chinese patients.
The IFITM5 5' UTR was sequenced in 9 heterozygous subjects with osteogenesis imperfecta type V. Both wild-type and mutant IFITM5 mRNA transcripts were present in bone. Identical mutations have variable phenotypic expression, even within the same family.
The bone mineral density varied greatly, even within families. Our study thus highlights the phenotypic variability of OI type V caused by the IFITM5 mutation.
Recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
IFITM5 mutation is associated with Osteogenesis imperfecta type V.
study demonstrates the presence of a recurrent IFITM5 mutation in a population of patients with osteogenesis imperfecta type V; even though the disease-causing mutation is identical among patients, the interindividual phenotypic variability is considerable
A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V.
A mutation in the 5'-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus.
results suggest that expression of mutant IFITM5 causes abnormal skeletal development, low bone mass, and abnormal osteoblast differentiation
The purpose of the current study was to re-assess the topology, localization, and biochemical properties of BRIL and compare it to the osteogenesis imperfecta type V mutant in MC3T3 osteoblasts.
These results indicate that the S-palmitoylation on IFITM5 promotes the interaction with FKBP11.
Key roles for the Sp members and GLI2 that possibly cooperate to activate Bril when the promoter becomes demethylated.
Natural antisense transcripts enhance bone formation by increasing sense IFITM5 transcription.
Ifitm5 deficiency might have a greater effect on prenatal bone development.
these results suggest that IFITM5 is involved not only in bone formation, but also in immune system activity.
Bril is a novel osteoblast protein and showed a role in mineralization, possibly identifying a new regulatory pathway in bone formation.
Plays a role in bone mineralization (By similarity).
interferon-induced transmembrane protein 5
, interferon induced transmembrane protein 5
, bone-restricted ifitm-like protein
, bone-restricted interferon-induced transmembrane protein-like protein
, dispanin subfamily A member 1
, bone-restricted interferon induced transmembrane protein-like protein
, fragilis family member 4
, haemopoiesis related membrane protein 1