Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG). (Q35212708)

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25 January 2020

title

Novel mutations affecting LRP5 splicing in patients with osteoporosis-pseudoglioma syndrome (OPPG) (English)

1 reference

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osteoporosis-pseudoglioma syndrome

25 January 2020

main subject

osteoporosis

0 references

1 reference

1

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25 January 2020

Oliver Semler

5

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25 January 2020

Marco Castori

8

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25 January 2020

Outi Mäkitie

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author name string

B D Chung

2

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25 January 2020

M Susic

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25 January 2020

T Prescott

4

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25 January 2020

T Fiskerstrand

6

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25 January 2020

P D'Eufemia

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M Pekkinen

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E Sochett

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W G Cole

11

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25 January 2020

C Netzer

12

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publication date

16 March 2011

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European Journal of Human Genetics

25 January 2020

published in

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volume

19

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issue

8

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25 January 2020

page(s)

875-881

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Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.

25 January 2020

cites work

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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

13 July 2018

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The A1330V polymorphism of the low-density lipoprotein receptor-related protein 5 gene (LRP5) associates with low peak bone mass in young healthy men.

13 July 2018

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Reduced bone mineral density and hyaloid vasculature remnants in a consanguineous recessive FEVR family with a mutation in LRP5

13 July 2018

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Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

13 July 2018

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Missense mutations in LRP5 are not a common cause of idiopathic osteoporosis in adult men.

13 July 2018

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13 July 2018

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Polymorphisms in the low-density lipoprotein receptor-related protein 5 (LRP5) gene are associated with variation in vertebral bone mass, vertebral bone size, and stature in whites

13 July 2018

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13 July 2018

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Mutations in LRP5 or FZD4 underlie the common familial exudative vitreoretinopathy locus on chromosome 11q.

13 July 2018

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Decreased bone density in carriers and patients of an Israeli family with the osteoporosis-pseudoglioma syndrome.

13 July 2018

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Mesd encodes an LRP5/6 chaperone essential for specification of mouse embryonic polarity

13 July 2018

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Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density

13 July 2018

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13 July 2018

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High bone density due to a mutation in LDL-receptor-related protein 5

13 July 2018

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A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait

13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13

13 July 2018

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13 July 2018

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13 July 2018

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13 July 2018

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26 September 2018

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26 September 2018

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Effects of 3 years of intravenous pamidronate treatment on bone markers and bone mineral density in a patient with osteoporosis-pseudoglioma syndrome (OPPG).

26 September 2018

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Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children.

26 September 2018

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Influence of LRP5 Polymorphisms on Normal Variation in BMD

26 September 2018

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Crossref

https://api.crossref.org/works/10.1038%2FEJHG.2011.42

Genetic determinants of bone mass

21 January 2018

1 reference

12 December 2020

Osteoporosis-pseudoglioma syndrome and the ocular form of osteogenesis imperfecta

1 reference

12 December 2020

Osteoporosis-pseudoglioma syndrome

1 reference

12 December 2020

A novel mutation in the LRP5 gene is associated with osteoporosis-pseudoglioma syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.42

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21407258%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21407258%20AND%20SRC:MED&resulttype=core&format=json

25 January 2020

PubMed publication ID

21407258

1 reference