(Q34212011)

31 July 2017

title

Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia (English)

1 reference

31 July 2017

0 references

whole genome sequencing

1 reference

3

1 reference

31 July 2017

4

Helen H Hobbs

1 reference

31 July 2017

5

Jonathan C Cohen

1 reference

31 July 2017

Jonathan Rios

1

1 reference

31 July 2017

Evan Stein

series ordinal

2

1 reference

31 July 2017

publication date

18 August 2010

1 reference

31 July 2017

published in

Human Molecular Genetics

1 reference

31 July 2017

volume

19

1 reference

31 July 2017

issue

22

1 reference

31 July 2017

page(s)

4313-4318

1 reference

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy

31 July 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Sequencing technologies - the next generation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Exome sequencing identifies the cause of a mendelian disorder

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Targeted capture and massively parallel sequencing of 12 human exomes

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Hereditary predominantly motor neuropathies

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Disruption of cholesterol homeostasis by plant sterols

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Ezetimibe effectively reduces plasma plant sterols in patients with sitosterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Monogenic hypercholesterolemia: new insights in pathogenesis and treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Mutations in PCSK9 cause autosomal dominant hypercholesterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

SREBPs: activators of the complete program of cholesterol and fatty acid synthesis in the liver

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Sterol absorption and sterol balance in phytosterolemia evaluated by deuterium-labeled sterols: effect of sitostanol treatment

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Metabolism of beta-sitosterol in man.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Familial apolipoprotein E deficiency

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Molecular genetics of the LDL receptor gene in familial hypercholesterolemia

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2957323

Beta-sitosterolaemia: a new nonsense mutation in the ABCG5 gene.

5 July 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ352

Sterol intermediates from cholesterol biosynthetic pathway as liver X receptor ligands.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ352

No association between plasma levels of plant sterols and atherosclerosis in mice and men.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDQ352

Effects of varying maternal dietary cholesterol and phytosterol in lactating women and their infants

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20719861

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Increased plasma cholestanol and 5 alpha-saturated plant sterol derivatives in subjects with sitosterolemia and xanthomatosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20719861

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

1 reference

https://pubmed.ncbi.nlm.nih.gov/20719861

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDQ352

1 reference

31 July 2017

1 reference

31 July 2017

1 reference