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Mutations in WNT1 cause different forms of bone fragility.
We report that hypofunctional alleles of WNT1 cause autosomal-recessive osteogenesis imperfecta, a congenital disorder characterized by reduced bone mass and recurrent fractures. In consanguineousExpand
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The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.
Hedgehog (Hh) signaling is involved in patterning and morphogenesis of most organs in the developing mammalian embryo. Despite many advances in understanding core components of the pathway, little isExpand
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Identification of a frameshift mutation in Osterix in a patient with recessive osteogenesis imperfecta.
Osteogenesis imperfecta, or "brittle bone disease," is a type I collagen-related condition associated with osteoporosis and increased risk of bone fractures. Using a combination of homozygosityExpand
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Identification of a mutation causing deficient BMP1/mTLD proteolytic activity in autosomal recessive osteogenesis imperfecta
Herein, we have studied a consanguineous Egyptian family with two children diagnosed with severe autosomal recessive osteogenesis imperfecta (AR‐OI) and a large umbilical hernia. Homozygosity mappingExpand
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Mutations in PLOD2 cause autosomal‐recessive connective tissue disorders within the Bruck syndrome—Osteogenesis imperfecta phenotypic spectrum
PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, weExpand
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Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype–phenotype correlations
Autosomal recessive osteogenesis imperfecta (AR‐OI) is an inherited condition which in recent years has been shown with increasing genetic and clinical heterogeneity. In this article, we performedExpand
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Arabidopsis thaliana AtGpp1 and AtGpp2: two novel low molecular weight phosphatases involved in plant glycerol metabolism
We have isolated two Arabidopsis thaliana genes, AtGpp1 and AtGpp2, showing homology with the yeast low molecular weight phosphatases GPP1 and GPP2, which have a high specificity forExpand
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Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.
Most patients with Ellis-van Creveld syndrome (EvC) are identified with pathogenic changes in EVC or EVC2, however further genetic heterogeneity has been suggested. In this report we describeExpand
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Report of a newly indentified patient with mutations in BMP1 and underlying pathogenetic aspects
Osteogenesis imperfecta is a genetic condition characterized by bone fragility and recurrent fractures, which in the large majority of patients are caused by defects in the production of type IExpand
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Phylogenetic and genetic linkage between novel atypical dual-specificity phosphatases from non-metazoan organisms
Dual-specificity phosphatases (DSPs) constitute a large protein tyrosine phosphatase (PTP) family, with examples in distant evolutive phyla. PFA-DSPs (Plant and Fungi Atypical DSPs) are a group ofExpand
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