Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement (Q37396896)

20 August 2017

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement (English)

1 reference

20 August 2017

Ehlers-Danlos syndrome

0 references

author

Hans Christian Hennies

21

Hans Christian Hennies

0 references

Jana Vandrovcova

34

Jana Vandrovcova

1 reference

20 August 2017

Ines Kapferer-Seebacher

1

Ines Kapferer-Seebacher

1 reference

20 August 2017

Fulya Taylan

32

0 references

Marianne Rohrbach

Marianne Rohrbach

28

0 references

Cecilia Giunta

Cecilia Giunta

12

0 references

Anna Lindstrand

Anna Lindstrand

23

0 references

Marcus Schmitt-Egenolf

Marcus Schmitt-Egenolf

18

0 references

Ann Nordgren

Ann Nordgren

5

0 references

Nikolaus Romani

Nikolaus Romani

29

0 references

Nicole Thielens

Nicole Thielens

7

0 references

Deborah A Nickerson

26

Deborah A Nickerson

1 reference

20 August 2017

6

Heribert Stoiber

1 reference

20 August 2017

27

Eyal Reinstein

1 reference

20 August 2017

Melanie Pepin

2

1 reference

20 August 2017

Roland Werner

3

1 reference

20 August 2017

Timothy J Aitman

4

1 reference

20 August 2017

Christine Gaboriaud

8

1 reference

20 August 2017

Albert Amberger

9

1 reference

20 August 2017

Anna Schossig

10

1 reference

20 August 2017

Robert Gruber

11

1 reference

20 August 2017

Michael Bamshad

13

1 reference

20 August 2017

Erik Björck

14

1 reference

20 August 2017

Christina Chen

15

1 reference

20 August 2017

David Chitayat

16

1 reference

20 August 2017

Michael Dorschner

17

1 reference

20 August 2017

Christopher J Hale

19

1 reference

20 August 2017

David Hanna

20

1 reference

20 August 2017

Irene Heiss-Kisielewsky

22

1 reference

20 August 2017

Pernilla Lundberg

24

1 reference

20 August 2017

Anna L Mitchell

25

1 reference

20 August 2017

Matthias Schmuth

30

1 reference

20 August 2017

Rachel Silver

31

1 reference

20 August 2017

Anthony Vandersteen

33

1 reference

20 August 2017

Ruwan Weerakkody

35

1 reference

20 August 2017

Margaret Yang

36

1 reference

20 August 2017

F Michael Pope

37

1 reference

20 August 2017

Molecular Basis of Periodontal EDS Consortium

38

1 reference

20 August 2017

Peter H Byers

39

1 reference

20 August 2017

Johannes Zschocke

40

1 reference

20 August 2017

language of work or name

English

0 references

publication date

27 September 2016

1 reference

American Journal of Human Genetics

20 August 2017

1 reference

20 August 2017

99

1 reference

20 August 2017

5

1 reference

20 August 2017

1005-1014

1 reference

Complement Involvement in Periodontitis: Molecular Mechanisms and Rational Therapeutic Approaches

20 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

The Genetics of Soft Connective Tissue Disorders.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Deciphering the fine details of c1 assembly and activation mechanisms: "mission impossible"?

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Genetic and intervention studies implicating complement C3 as a major target for the treatment of periodontitis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Aggressive periodontitis: case definition and diagnostic criteria.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Structural basis of the C1q/C1s interaction and its central role in assembly of the C1 complex of complement activation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Expression of recombinant human complement C1q allows identification of the C1r/C1s-binding sites

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Procollagen C-proteinase enhancer grasps the stalk of the C-propeptide trimer to boost collagen precursor maturation

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Ehlers-Danlos syndrome type VIII is clinically heterogeneous disorder associated primarily with periodontal disease, and variable connective tissue features

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Procollagen C-proteinase enhancer stimulates procollagen processing by binding to the C-propeptide region only

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

The bradykinin-forming cascade and its role in hereditary angioedema

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Measuring the 50% haemolytic complement (CH50) activity of serum

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Identification of the C1q-binding Sites of Human C1r and C1s: a refined three-dimensional model of the C1 complex of complement

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Gene expression in periodontal tissues following treatment

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Ehlers-Danlos syndrome with severe early-onset periodontal disease (EDS-VIII) is a distinct, heterogeneous disorder with one predisposition gene at chromosome 12p13.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

PCOLCE2 encodes a functional procollagen C-proteinase enhancer (PCPE2) that is a collagen-binding protein differing in distribution of expression and post-translational modification from the previously described PCPE1

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Infectious and whole inactivated simian immunodeficiency viruses interact similarly with primate dendritic cells (DCs): differential intracellular fate of virions in mature and immature DCs

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

The crystal structure of the zymogen catalytic domain of complement protease C1r reveals that a disruptive mechanical stress is required to trigger activation of the C1 complex

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

The CUB domain. A widespread module in developmentally regulated proteins

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Phenotypic overlap of Ehlers-Danlos syndrome types IV and VIII.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Fatal Ruptured Blood Blister-like Aneurysm of Middle Cerebral Artery Associated with Ehlers-Danlos Syndrome Type VIII (Periodontitis Type).

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Molecular and cytologic studies of Ehlers-Danlos syndrome type VIII

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Mutation or knock-down of 17β-hydroxysteroid dehydrogenase type 10 cause loss of MRPP1 and impaired processing of mitochondrial heavy strand transcripts

26 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Classical complement pathway components C1r and C1s: purification from human serum and in recombinant form and functional characterization.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Early-onset osteoarthritis in Ehlers-Danlos syndrome type VIII.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Clinical presentations and molecular basis of complement C1r deficiency in a male African-American patient with systemic lupus erythematosus.

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Purified proenzyme C1r. Some characteristics of its activation and subsequent proteolytic cleavage

2 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5097948

Simultaneous assessment of complement components C3, C4, and B and their cleavage products in human gingival fluid. II. Longitudinal changes during periodontal therapy

2 September 2018

1 reference

12 December 2020

Human complement subcomponent C2: purification and proteolytic cleavage in fluid phase by C1s, C1r2-C1s2 and C1

1 reference

12 December 2020

Degradation of type I and II collagen by human activated C1-s

1 reference

12 December 2020

Cleavage of the fourth component of human complement (C4) by activated activated Cls

1 reference

12 December 2020

A new variant of Ehlers-Danlos syndrome: an autosomal dominant disorder of fragile skin, abnormal scarring, and generalized periodontitis

1 reference

12 December 2020

Ehlers-Danlos type VIII, periodontitis-type: further delineation of the syndrome in a four-generation pedigree

1 reference

12 December 2020

Genetic analysis of complement C1s deficiency associated with systemic lupus erythematosus highlights alternative splicing of normal C1s gene

1 reference

12 December 2020

Assessment of complement cleavage in gingival fluid during experimental gingivitis in man

1 reference

12 December 2020

Region of the Clq molecule involved in the interaction between platelets and subcomponent Clq of the first component of complement

1 reference

12 December 2020

Ehlers-Danlos syndrome type VIII

1 reference

12 December 2020

10.1016/J.AJHG.2016.08.019

Identifiers

DOI

1 reference

release_4on4cyiuhrgtbpsfol56mogz5a

20 August 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/4on4cyiuhrgtbpsfol56mogz5a

24 November 2022

mapped directly with Wikidata item

1 reference

20 August 2017

PubMed publication ID

27745832

1 reference