(Q41691162)

7 October 2017

Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations (English)

1 reference

inborn error of lipid metabolism

7 October 2017

0 references

0 references

14

Gideon Rechavi

1 reference

7 October 2017

Joshi Stephen

1

1 reference

7 October 2017

Thierry Vilboux

2

1 reference

7 October 2017

Yael Haberman

3

1 reference

7 October 2017

Hadass Pri-Chen

4

1 reference

7 October 2017

Ben Pode-Shakked

5

1 reference

7 October 2017

Sina Mazaheri

6

1 reference

7 October 2017

Dina Marek-Yagel

7

1 reference

7 October 2017

Ortal Barel

8

1 reference

7 October 2017

Ayelet Di Segni

9

1 reference

7 October 2017

Eran Eyal

10

1 reference

7 October 2017

Goni Hout-Siloni

11

1 reference

7 October 2017

Avishay Lahad

12

1 reference

7 October 2017

Tzippora Shalem

13

1 reference

7 October 2017

May Christine V Malicdan

15

1 reference

7 October 2017

Batia Weiss

16

1 reference

7 October 2017

William A Gahl

17

1 reference

7 October 2017

Yair Anikster

18

1 reference

7 October 2017

17 February 2016

1 reference

European Journal of Human Genetics

7 October 2017

1 reference

7 October 2017

24

1 reference

7 October 2017

9

1 reference

7 October 2017

1268-1273

1 reference

https://scigraph.springernature.com/pub.10.1038/ejhg.2016.5

7 October 2017

0 references

cites work

Effect of the DGAT1 K232A genotype of dairy cows on the milk metabolome and proteome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Phenotypic population screen identifies a new mutation in bovine DGAT1 responsible for unsaturated milk fat

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

DGAT1 mutation is linked to a congenital diarrheal disorder

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

A clinical evaluation tool for SNP arrays, especially for autosomal recessive conditions in offspring of consanguineous parents.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

REAP: A two minute cell fractionation method

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

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

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Congenital diarrheal disorders: improved understanding of gene defects is leading to advances in intestinal physiology and clinical management.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Protein-Losing Enteropathy: Case Illustrations and Clinical Review

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Fast and accurate short read alignment with Burrows-Wheeler transform

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Acylation of acylglycerols by acyl coenzyme A:diacylglycerol acyltransferase 1 (DGAT1). Functional importance of DGAT1 in the intestinal fat absorption

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Enhancing energy and glucose metabolism by disrupting triglyceride synthesis: Lessons from mice lacking DGAT1.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Increased insulin and leptin sensitivity in mice lacking acyl CoA:diacylglycerol acyltransferase 1.

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Identification of a gene encoding an acyl CoA:diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

A Family with Protein-Losing Enteropathy

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Prediction of protein stability changes for single-site mutations using support vector machines

6 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4989215

Protein-losing enteropathy

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26883093

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1038/EJHG.2016.5

1 reference

Dimensions Publication ID

7 October 2017

0 references

1 reference

7 October 2017

1 reference