(Q24613690)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

title

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

Collectin sub-family member 11

20 January 2020

main subject

1 reference

GOA release 2020-03-11

1 reference

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Caroline Rooryck

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Daniel Osborn

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Joanna Kenny

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Philip Stanier

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Hilde Peeters

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Fowzan S Alkuraya

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

16

Raoul Hennekam

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Maria Bitner-Glindzicz

14

object named as

Maria Bitner-Glindzicz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

author name string

Anna Diaz-Font

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Elyes Chabchoub

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Victor Hernandez-Hernandez

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Hanan Shamseldin

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Aoife Waters

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Dagan Jenkins

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Ali Al Kaissi

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Gabriela F Leal

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Franco Carnevale

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Melissa Lees

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Alan J Burns

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

Philip L Beales

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

language of work or name

English

0 references

publication date

23 January 2011

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

volume

43

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

issue

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

page(s)

197-203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

MASP1 mutations in patients with facial, umbilical, coccygeal, and auditory findings of Carnevale, Malpuech, OSA, and Michels syndromes

20 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

A novel mannose-binding lectin/ficolin-associated protein is highly expressed in heart and skeletal muscle tissues and inhibits complement activation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Cooperation between MASP-1 and MASP-2 in the generation of C3 convertase through the MBL pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

MASP-3 and its association with distinct complexes of the mannan-binding lectin complement activation pathway

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

MAp44, a human protein associated with pattern recognition molecules of the complement system and regulating the lectin pathway of complement activation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Identification and characterization of a novel human collectin CL-K1

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Basal body stability and ciliogenesis requires the conserved component Poc1

7 April 2017

1 reference

https://api.crossref.org/works/10.1038/NG.757

The receptor tyrosine kinase RET regulates hindgut colonization by sacral neural crest cells

22 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

New perspectives on mannan-binding lectin-mediated complement activation

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Malpuech syndrome: broadening the clinical spectrum and molecular analysis by array-CGH.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

A human mannose-binding protein is an acute-phase reactant that shares sequence homology with other vertebrate lectins

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Collectin 11 (CL-11, CL-K1) is a MASP-1/3-associated plasma collectin with microbial-binding activity

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Collective chemotaxis requires contact-dependent cell polarity.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Characterization of recombinant mannan-binding lectin-associated serine protease (MASP)-3 suggests an activation mechanism different from that of MASP-1 and MASP-2.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Ptosis of eyelids, strabismus, diastasis recti, hip defect, cryptorchidism, and developmental delay in two sibs.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Asymmetrical skull, ptosis, hypertelorism, high nasal bridge, clefting, umbilical anomalies, and skeletal anomalies in sibs: is Carnevale syndrome a separate entity?

30 May 2018

1 reference

Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome?

21 January 2018

1 reference

Mannan-binding lectin-associated serine protease 3 cleaves synthetic peptides and insulin-like growth factor-binding protein 5.

21 January 2018

1 reference

Composition of the lectin pathway of complement in Gallus gallus: absence of mannan-binding lectin-associated serine protease-1 in birds

21 January 2018

1 reference

An agarose spot assay for chemotactic invasion

21 January 2018

1 reference

A clefting syndrome with ocular anterior chamber defect and lid anomalies

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3045628

Three additional cases of the Michels syndrome

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21258343

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/NG.757

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

20 January 2020

1026904729

0 references

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21258343%20AND%20SRC:MED&resulttype=core&format=json

20 January 2020

PubMed publication ID

21258343

2 references