(Q30505456)

English

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence

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scholarly article

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Anderson's disease/chylomicron retention disease in a Japanese patient with uniparental disomy 7 and a normal SAR1B gene protein coding sequence (English)

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

author name string

Tomoo Okada

1

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Michio Miyashita

2

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Junji Fukuhara

3

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Masahiko Sugitani

4

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Takahiro Ueno

5

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Marie-Elisabeth Samson-Bouma

6

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Lawrence P Aggerbeck

7

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

publication date

21 November 2011

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

6

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

78

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Protein export at the ER: loading big collagens into COPII carriers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

COPII-mediated vesicle formation at a glance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Guidelines for the diagnosis and management of chylomicron retention disease based on a review of the literature and the experience of two centers

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Uniparental disomy and human disease: an overview.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Epigenotype-phenotype correlations in Silver-Russell syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

The identification of the SNARE complex required for the fusion of VLDL-transport vesicle with hepatic cis-Golgi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

A novel multiprotein complex is required to generate the prechylomicron transport vesicle from intestinal ER

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

The biogenesis of chylomicrons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Mutations affecting the secretory COPII coat component SEC23B cause congenital dyserythropoietic anemia type II.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Complex and segmental uniparental disomy updated

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

The genetic basis of a craniofacial disease provides insight into COPII coat assembly.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Deletion of ultraconserved elements yields viable mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

The strength of selection on ultraconserved elements in the human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Absence of a paternally inherited FOXP2 gene in developmental verbal dyspraxia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Long-range control of gene expression: emerging mechanisms and disruption in disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Relation of triglyceride metabolism and coronary artery disease. Studies in the postprandial state.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

20 June 2018

Maternal uniparental disomy 7 and Silver-Russell syndrome - clinical update and comparison with other subgroups.

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-78

21 January 2018

VLDL exits from the endoplasmic reticulum in a specialized vesicle, the VLDL transport vesicle, in rat primary hepatocytes

1 reference

https://api.crossref.org/works/10.1186%2F1750-1172-6-78

21 January 2018

Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell syndrome (SRS): results from a large cohort of patients with SRS and SRS-like phenotypes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3284428

26 November 2018

Advanced parental age in maternal uniparental disomy (UPD): implications for the mechanism of formation

1 reference

https://pubmed.ncbi.nlm.nih.gov/22104167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Growth parameters in maternal uniparental disomy 7 and 14

1 reference

https://pubmed.ncbi.nlm.nih.gov/22104167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Russell–Silver syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/22104167

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/1750-1172-6-78

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

Dimensions Publication ID

0 references

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

30 September 2017

ResearchGate publication ID

0 references

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