A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Item
http://www.wikidata.org/entity/Q39889751
Wnt signaling pathway in retinal vascularizationSpectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.Genetic screening of Wnt signaling factors in advanced retinopathy of prematurity4q22.1 contributes to bone mineral density and osteoporosis susceptibility in postmenopausal women of Chinese Han population.Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG).Variants in the 3'UTR of SNCA do not affect miRNA-433 binding and alpha-synuclein expression.Genetic variants of FZD4 and LRP5 genes in patients with advanced retinopathy of prematurity.LRP5 and bone mass regulation: Where are we now?Signal Sequence Receptor 2 is required for survival of human melanoma cells as part of an unfolded protein response to endoplasmic reticulum stress.Opposite spectrum of activity of canonical Wnt signaling in the osteogenic context of undifferentiated and differentiated mesenchymal cells: implications for tissue engineering.Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments.Origin matters: differences in embryonic tissue origin and Wnt signaling determine the osteogenic potential and healing capacity of frontal and parietal calvarial bonesN-cadherin Regulation of Bone Growth and Homeostasis Is Osteolineage Stage-Specific.Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
P2860

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats.

Item
http://www.wikidata.org/entity/Q39889751
description
2009 nî lūn-bûn
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2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
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2009年學術文章
@zh-hant
name
A mutation in the signal seque ...... ism for trinucleotide repeats.
@en
A mutation in the signal seque ...... oporosis-pseudoglioma syndrome
@nl
type
label
A mutation in the signal seque ...... ism for trinucleotide repeats.
@en
A mutation in the signal seque ...... oporosis-pseudoglioma syndrome
@nl
prefLabel
A mutation in the signal seque ...... ism for trinucleotide repeats.
@en
A mutation in the signal seque ...... oporosis-pseudoglioma syndrome
@nl
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921
P356
P1433
P1476
A mutation in the signal seque ...... ism for trinucleotide repeats.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P921