(Q41010092)

25 September 2017

Molecular and cellular basis of deficiency of the b subunit for factor XIII secondary to a Cys430-Phe mutation in the seventh Sushi domain (English)

1 reference

25 September 2017

Hashiguchi T

1

1 reference

25 September 2017

Ichinose A

series ordinal

2

1 reference

25 September 2017

language of work or name

English

0 references

publication date

1 March 1995

1 reference

Journal of Clinical Investigation

25 September 2017

1 reference

25 September 2017

95

1 reference

25 September 2017

3

1 reference

25 September 2017

1002-1008

1 reference

Two genetic defects in a patient with complete deficiency of the b-subunit for coagulation factor XIII.

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Glanzmann thrombasthenia secondary to a Gly273-->Asp mutation adjacent to the first calcium-binding domain of platelet glycoprotein IIb.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Human factor XIII: fibrin-stabilizing factor.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Visualization of human C4b-binding protein and its complexes with vitamin K-dependent protein S and complement protein C4b

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Assembly of asparagine-linked oligosaccharides

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Amino acid sequence of the a subunit of human factor XIII

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Amino acid sequence of the b subunit of human factor XIII, a protein composed of ten repetitive segments

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

The use of phosphorothioate-modified DNA in restriction enzyme reactions to prepare nicked DNA.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Characterization of the gene for the a subunit of human factor XIII (plasma transglutaminase), a blood coagulation factor

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

A new family with congenital factor XIII deficiency showing a deficit of both subunit A and B. Type I factor XIII deficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Protein oligomerization in the endoplasmic reticulum

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Control of protein exit from the endoplasmic reticulum

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Electron microscopy and hydrodynamic properties of factor XIII subunits

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

A familial factor XIII subunit B deficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Nucleotide sequence of the gene for the b subunit of human factor XIII.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Protein degradation in the endoplasmic reticulum

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Structure of transglutaminases.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Molecular basis of alpha 1-antitrypsin deficiency and emphysema associated with the alpha 1-antitrypsin Mmineral springs allele

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Deficiency of coagulation factor XIII A subunit caused by the dinucleotide deletion at the 5' end of exon III

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

An active-site mutation (Gly633-->Arg) of dipeptidyl peptidase IV causes its retention and rapid degradation in the endoplasmic reticulum

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Identification of a point mutation in factor XIII A subunit deficiency

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Studies on factor XIII antigen in congenital factor XIII deficiency. A tentative classification of the disease in two groups

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Molecular approach to structure-function relationship of human coagulation factor XIII.

26 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

A study of the structure of human complement component factor H by Fourier transform infrared spectroscopy and secondary structure averaging methods

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Hereditary alpha 2-plasmin inhibitor deficiency caused by a transport-deficient mutation (alpha 2-PI-Okinawa). Deletion of Glu137 by a trinucleotide deletion blocks intracellular transport.

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Clinical pharmacokinetics of a placenta-derived factor XIII concentrate in type I and type II factor XIII deficiency

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Expression of recombinant human plasminogen in mammalian cells is augmented by suppression of plasmin activity

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Amino acid sequence and location of the disulfide bonds in bovine .beta.2 glycoprotein I: the presence of five Sushi domains

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=441433

Factor XIII ABristol 1: detection of a nonsense mutation (Arg171-->stop codon) in factor XIII A subunit deficiency

19 August 2018

1 reference

12 December 2020

1-deoxynojirimycin impairs oligosaccharide processing of alpha 1-proteinase inhibitor and inhibits its secretion in primary cultures of rat hepatocytes

1 reference

12 December 2020

Biosynthesis, processing, and secretion of M and Z variant human alpha 1-antitrypsin

1 reference

12 December 2020

Repair of the secretion defect in the Z form of alpha 1-antitrypsin by addition of a second mutation

1 reference

12 December 2020

Serum alpha 1-antitrypsin deficiency associated with the common S-type (Glu264----Val) mutation results from intracellular degradation of alpha 1-antitrypsin prior to secretion

1 reference

12 December 2020

Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton

1 reference

12 December 2020

Disulfide bonds are localized within the short consensus repeat units of complement regulatory proteins: C4b-binding protein

1 reference

12 December 2020

Human plasma factor XIII: subunit interactions and activation of zymogen

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI117744

1 reference

25 September 2017

1 reference

25 September 2017

PubMed publication ID

7883947

1 reference