Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Human genetic evidence demonstrates that WNT1 mutations cause osteogenesis imperfecta (OI) and early-onset osteoporosis, implicating WNT1 as a major regulator of bone metabolism.
|
30690791 |
2019 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Cohort comprised mutation-positive (N = 13; age 17-76 years) and mutation-negative (N = 13; 16-77 years) subjects from two Finnish families with autosomal dominant WNT1 osteoporosis due to a heterozygous missense mutation c.652T>G (p.C218G) in WNT1.
|
31299386 |
2019 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous WNT1 mutations have been linked to autosomal dominant early-onset osteoporosis.
|
30896082 |
2019 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We aimed to explore bone marrow findings in a large family with early-onset osteoporosis due to a heterozygous WNT1 mutation.
|
29147753 |
2018 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Altogether, 12 mutation-positive (MP) subjects (median age, 39 years; range, 11 to 76 years) and 12 mutation-negative (MN) subjects (35 years; range, 9 to 59 years) from two Finnish families with WNT1 osteoporosis due to the heterozygous p.C218G WNT1 mutation.
|
29506076 |
2018 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous missense variants in WNT1 are responsible for early-onset osteoporosis with variable bone phenotypes.
|
30246918 |
2018 |
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The identification of Wnt1 as a regulator of bone formation and remodeling provides the basis for development of Wnt1-targeting drugs for the treatment of osteoporosis.
|
30404864 |
2018 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients carrying homozygous WNT1 mutations have more frequent fractures while heterozygous carriers of the mutation in WNT1 gene are also found to have early onset osteoporosis.
|
29481978 |
2018 |
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Collectively, our data suggest that WNT1-related OI and osteoporosis are caused in part by decreased mTORC1-dependent osteoblast function resulting from loss of WNT1 signaling in osteocytes.
|
28628032 |
2017 |
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The implication of WNT1 in the control of bone formation identifies a potential new target for the treatment of low bone mass disorders, such as osteoporosis.
|
28628035 |
2017 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with WNT1 or PLS3 mutation-related osteoporosis responded to teriparatide treatment.
|
27732335 |
2017 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To evaluate the relationship between osteocyte-specific protein expression and bone histology in patients with monogenic osteoporosis due to wingless integration site 1 (WNT1) or plastin 3 (PLS3) mutations.
|
28379384 |
2017 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis.
|
28528193 |
2017 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have identified two large Finnish families with early-onset osteoporosis due to a heterozygous WNT1 mutation c.652T>G, p.C218G.
|
28411110 |
2017 |
OSTEOGENESIS IMPERFECTA, TYPE XV
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Novel missense loss-of-function mutations of WNT1 in an autosomal recessive Osteogenesis imperfecta patient.
|
28528193 |
2017 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here we report clinical findings of the WNT1 osteoporosis in 8 children and young adults (median age 14 years; range 10 to 30 years) in two families, all with the p.C218G mutation in WNT1.
|
27005318 |
2016 |
Osteoporosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
These observations suggest that more effective treatment approaches are needed for children with recessive WNT1-related bone fragility and that a systematic work-up for osteoporosis is warranted for WNT1 mutation carriers in these families.
|
25010833 |
2014 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, our group and others reported that WNT1 recessive mutations cause OI, whereas WNT1 heterozygous mutations cause early onset osteoporosis.
|
24634143 |
2014 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
In addition, in a family affected by dominantly inherited early-onset osteoporosis, a heterozygous WNT1 missense mutation was identified in affected individuals.
|
23499309 |
2013 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
In 10 family members with dominantly inherited, early-onset osteoporosis, we identified a heterozygous missense mutation in WNT1, c.652T→G (p.Cys218Gly).
|
23656646 |
2013 |
Osteoporosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
|
23656646 |
2013 |
OSTEOGENESIS IMPERFECTA, TYPE XV
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in WNT1 are a cause of osteogenesis imperfecta.
|
23434763 |
2013 |
OSTEOGENESIS IMPERFECTA, TYPE XV
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
WNT1 mutations in families affected by moderately severe and progressive recessive osteogenesis imperfecta.
|
23499310 |
2013 |
OSTEOGENESIS IMPERFECTA, TYPE XV
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta.
|
23656646 |
2013 |
OSTEOGENESIS IMPERFECTA, TYPE XV
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Mutations in WNT1 cause different forms of bone fragility.
|
23499309 |
2013 |