(Q39889751)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

15 September 2017

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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osteoporosis-pseudoglioma syndrome

1 reference

based on heuristic

inferred from title

Gudrun Nürnberg

11

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Gudrun Nürnberg

0 references

Hulya Kayserili

2

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Hülya Kayserili

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Christian Kubisch

15

object named as

Christian Kubisch

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Peter Nürnberg

12

object named as

Peter Nürnberg

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15 September 2017

14

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Bernd Wollnik

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15 September 2017

author name string

Boi-Dinh Chung

1

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15 September 2017

Minrong Ai

3

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15 September 2017

Jan Freudenberg

4

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15 September 2017

Abdullah Uzümcü

5

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15 September 2017

Oya Uyguner

6

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15 September 2017

Cynthia F Bartels

7

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15 September 2017

Stefan Höning

8

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15 September 2017

Alfredo Ramirez

9

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15 September 2017

Franz-Georg Hanisch

10

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15 September 2017

Matthew L Warman

13

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15 September 2017

Christian Netzer

16

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15 September 2017

publication date

1 April 2009

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15 September 2017

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15 September 2017

30

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4

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15 September 2017

641-648

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15 September 2017

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Clinical and molecular findings in osteoporosis-pseudoglioma syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Natural selection has driven population differentiation in modern humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Improved prediction of signal peptides: SignalP 3.0

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Tandem repeats finder: a program to analyze DNA sequences

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Molecular variation at the apolipoprotein B gene locus in relation to lipids and cardiovascular disease: a systematic meta-analysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Locating proteins in the cell using TargetP, SignalP and related tools

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Constitutive transcriptional activation by a beta-catenin-Tcf complex in APC-/- colon carcinoma

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Rapid analytical and preparative isolation of functional endosomes by free flow electrophoresis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Linkage disequilibrium between STRPs and SNPs across the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Complexity of the genotype-phenotype correlation in familial exudative vitreoretinopathy with mutations in the LRP5 and/or FZD4 genes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

LDL-receptor-related proteins in Wnt signal transduction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Vascular development in the retina and inner ear: control by Norrin and Frizzled-4, a high-affinity ligand-receptor pair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

21 January 2018

Osteoporosis-pseudoglioma syndrome: clinical, morphological, and biochemical studies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

7 January 2021

based on heuristic

inferred from DOI database lookup

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20916

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20916

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

15 September 2017

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