(Q31115857)

15 September 2017

A frameshift mutation in the cubilin gene (CUBN) in Border Collies with Imerslund-Gräsbeck syndrome (selective cobalamin malabsorption). (English)

1 reference

Imerslund-Gräsbeck syndrome

15 September 2017

1 reference

Cord Drögemüller

3

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author name string

Marta Owczarek-Lipska

1

1 reference

15 September 2017

Vidhya Jagannathan

2

1 reference

15 September 2017

Sabina Lutz

4

1 reference

15 September 2017

Barbara Glanemann

5

1 reference

15 September 2017

Tosso Leeb

6

1 reference

15 September 2017

Peter H Kook

7

1 reference

15 September 2017

language of work or name

English

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publication date

16 April 2013

1 reference

15 September 2017

1 reference

15 September 2017

8

1 reference

15 September 2017

4

1 reference

15 September 2017

e61144

1 reference

Creative Commons Attribution 4.0 International

15 September 2017

start time

16 April 2013

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff: SNPs in the genome of Drosophila melanogaster strain w1118; iso-2; iso-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Vitamin B12 transport from food to the body's cells--a sophisticated, multistep pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Structural basis for receptor recognition of vitamin-B(12)-intrinsic factor complexes

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

A missense mutation in the SERPINH1 gene in Dachshunds with osteogenesis imperfecta

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Fast and accurate short read alignment with Burrows-Wheeler transform

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

PLINK: a tool set for whole-genome association and population-based linkage analyses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Enzyme therapy in mannose receptor-null mucopolysaccharidosis VII mice defines roles for the mannose 6-phosphate and mannose receptors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Amnionless function is required for cubilin brush-border expression and intrinsic factor-cobalamin (vitamin B12) absorption in vivo

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

The functional cobalamin (vitamin B12)-intrinsic factor receptor is a novel complex of cubilin and amnionless

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Mannose receptor-mediated regulation of serum glycoprotein homeostasis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3628801

Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency

21 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061144

Partial characterization of cobalamin deficiency in Chinese Shar Peis.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061144

Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency in a juvenile Border collie

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0061144

Persistent cobalamin deficiency causing failure to thrive in a juvenile beagle

21 January 2018

1 reference

12 December 2020

Inherited selective intestinal cobalamin malabsorption and cobalamin deficiency in dogs

1 reference

12 December 2020

Cobalamin deficiency associated with erythroblastic anemia and methylmalonic aciduria in a border collie

1 reference

12 December 2020

Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0061144

Identifiers

DOI

1 reference

15 September 2017

0 references

1 reference

15 September 2017

PubMed publication ID

23613799

1 reference