(Q35849432)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

title

Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2 (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

combined deficiency of factor V and factor VIII

9 January 2020

main subject

0 references

author

Flora Peyvandi

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

17

Edward G D Tuddenham

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

author name string

Bin Zhang

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Beth McGee

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Jennifer S Yamaoka

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Hugo Guglielmone

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Katharine A Downes

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Salvador Minoldo

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Gustavo Jarchum

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Norma B de Bosch

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Arlette Ruiz-Saez

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Bernard Chatelain

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Marian Olpinski

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Paula Bockenstedt

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Wolfgang Sperl

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

Randal J Kaufman

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

William C Nichols

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

David Ginsburg

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

language of work or name

English

0 references

publication date

22 November 2005

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

volume

107

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

issue

5

1 reference

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9 January 2020

page(s)

1903-1907

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

Mutations in the MCFD2 gene and a novel mutation in the LMAN1 gene in Indian families with combined deficiency of factor V and VIII.

9 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=1895703

LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Capturing protein interactions in the secretory pathway of living cells

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Carbohydrate- and conformation-dependent cargo capture for ER-exit

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Role of Erv29p in collecting soluble secretory proteins into ER-derived transport vesicles

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Mannose-dependent endoplasmic reticulum (ER)-Golgi intermediate compartment-53-mediated ER to Golgi trafficking of coagulation factors V and VIII.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Mapping of structural determinants for the oligomerization of p58, a lectin-like protein of the intermediate compartment and cis-Golgi

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency.

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Mistargeting of the lectin ERGIC-53 to the endoplasmic reticulum of HeLa cells impairs the secretion of a lysosomal enzyme

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Combined factor V and factor VIII deficiency in a Thai patient: a case report of genotype and phenotype characteristics

11 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Haemorrhagic symptoms in patients with combined factors V and VIII deficiency in north-eastern Iran

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

ER export of ERGIC-53 is controlled by cooperation of targeting determinants in all three of its domains

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Molecular characterization of the ERGIC-53 gene in two Japanese patients with combined factor V-factor VIII deficiency

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Combined factor V and VIII deficiency in Indian population

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Bleeding symptoms in 27 Iranian patients with the combined deficiency of factor V and factor VIII.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Combined factor V and factor VIII deficiency among non-Ashkenazi Jews

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1895703

Restriction sites containing CpG show a higher frequency of polymorphism in human DNA

24 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16304051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

[Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers]

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16304051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sorting signals can direct receptor-mediated export of soluble proteins into COPII vesicles

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/16304051

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1182/BLOOD-2005-09-3620

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16304051%20AND%20SRC:MED&resulttype=core&format=json

9 January 2020

PubMed publication ID

16304051

1 reference