(Q37072551)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

MBTPS2 mutations cause defective regulated intramembrane proteolysis in X-linked osteogenesis imperfecta (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

main subject

osteogenesis imperfecta

0 references

proteolysis

1 reference

Membrane bound transcription factor peptidase, site 2

inferred from title

1 reference

GOA release 2020-03-11

bone maturation

1 reference

GOA release 2020-03-11

author

Aileen M Barnes

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Andreas Janecke

12

1 reference

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17 March 2020

Sergey Leikin

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Marianne Rohrbach

15

1 reference

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17 March 2020

Cecilia Giunta

19

1 reference

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17 March 2020

Vorasuk Shotelersuk

21

1 reference

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17 March 2020

author name string

Uschi Lindert

1

1 reference

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17 March 2020

Wayne A Cabral

2

1 reference

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17 March 2020

Surasawadee Ausavarat

3

1 reference

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17 March 2020

Siraprapa Tongkobpetch

4

1 reference

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17 March 2020

Katja Ludin

5

1 reference

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17 March 2020

Patra Yeetong

7

1 reference

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17 March 2020

Maryann Weis

8

1 reference

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17 March 2020

Birgit Krabichler

9

1 reference

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17 March 2020

Chalurmpon Srichomthong

10

1 reference

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17 March 2020

Elena N Makareeva

11

1 reference

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17 March 2020

Benno Röthlisberger

14

1 reference

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17 March 2020

David R Eyre

17

1 reference

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17 March 2020

Kanya Suphapeetiporn

18

1 reference

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17 March 2020

Joan C Marini

20

1 reference

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17 March 2020

Ingo Kennerknecht

16

1 reference

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17 March 2020

language of work or name

English

0 references

publication date

6 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

published in

Nature Communications

1 reference

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17 March 2020

volume

7

1 reference

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17 March 2020

page(s)

11920

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

Creative Commons Attribution 4.0 International

17 March 2020

copyright license

start time

6 July 2016

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

exact match

https://scigraph.springernature.com/pub.10.1038/ncomms11920

0 references

cites work

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Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta

29 September 2017

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Sustained induction of collagen synthesis by TGF-β requires regulated intramembrane proteolysis of CREB3L1

29 September 2017

1 reference

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Cartilage-specific ablation of site-1 protease in mice results in the endoplasmic reticulum entrapment of type IIb procollagen and down-regulation of cholesterol and lipid homeostasis

29 September 2017

1 reference

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Abnormal type I collagen post-translational modification and crosslinking in a cyclophilin B KO mouse model of recessive osteogenesis imperfecta

29 September 2017

1 reference

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PLS3 mutations in X-linked osteoporosis with fractures

29 September 2017

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Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

29 September 2017

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29 September 2017

1 reference

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Bone collagen: new clues to its mineralization mechanism from recessive osteogenesis imperfecta

29 September 2017

1 reference

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Genotype-phenotype correlations emerging from the identification of missense mutations in MBTPS2.

29 September 2017

1 reference

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IFAP syndrome with severe cutaneous, neurologic and skeletal manifestations due to a novel MBTPS2 mutation in a Polish patient

29 September 2017

1 reference

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A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28.

29 September 2017

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Physiological unfolded protein response regulated by OASIS family members, transmembrane bZIP transcription factors

29 September 2017

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Regulated intramembrane proteolysis: signaling pathways and biological functions

29 September 2017

1 reference

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Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2

29 September 2017

1 reference

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OASIS/CREB3L1 Induces Expression of Genes Involved in Extracellular Matrix Production But Not Classical Endoplasmic Reticulum Stress Response Genes in Pancreatic β-Cells

29 September 2017

1 reference

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Homozygosity for a missense mutation in SERPINH1, which encodes the collagen chaperone protein HSP47, results in severe recessive osteogenesis imperfecta

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4935805

Signalling mediated by the endoplasmic reticulum stress transducer OASIS is involved in bone formation

29 September 2017

1 reference

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IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response

29 September 2017

1 reference

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Three novel mutations in the PORCN gene underlying focal dermal hypoplasia

29 September 2017

1 reference

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Site-1 protease is essential for endochondral bone formation in mice.

29 September 2017

1 reference

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Cleavage of the membrane-bound transcription factor OASIS in response to endoplasmic reticulum stress

29 September 2017

1 reference

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Site-1 protease is required for cartilage development in zebrafish

29 September 2017

1 reference

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Control of lipid metabolism by regulated intramembrane proteolysis of sterol regulatory element binding proteins (SREBPs)

29 September 2017

1 reference

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29 September 2017

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29 September 2017

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29 September 2017

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Mutation in cyclophilin B that causes hyperelastosis cutis in American Quarter Horse does not affect peptidylprolyl cis-trans isomerase activity but shows altered cyclophilin B-protein interactions and affects collagen folding

29 September 2017

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A missense mutation in the MBTPS2 gene underlies the X-linked form of Olmsted syndrome

27 June 2018

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Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

4 September 2018

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Crossref

https://api.crossref.org/works/10.1038%2FNCOMMS11920

21 January 2018

12 December 2020

Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta

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12 December 2020

X chromosome inactivation patterns in Russell-Silver syndrome patients and their mothers

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12 December 2020

Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

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12 December 2020

Osteogenesis imperfecta

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12 December 2020

MBTPS2 mutation causes BRESEK/BRESHECK syndrome

1 reference

12 December 2020

Identifiers

DOI

10.1038/NCOMMS11920

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27380894%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

PubMed publication ID

27380894

1 reference