DGAT1 mutations leading to delayed chronic diarrhoea: a case report

Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China

(2019) Ziqing Ye et al.   GENETICS IN MEDICINE

Advances in Evaluation of Chronic Diarrhea in Infants

(2018) Jay R. Thiagarajah et al.   GASTROENTEROLOGY

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency

(2018) Jorik M. van Rijn et al.   GASTROENTEROLOGY

Congenital Diarrhea From DGAT1 Mutation Leading to Electrolyte Derangements, Protein-losing Enteropathy, and Rickets

(2018) Thomas L. Ratchford et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

Phenotypic and genotypic characterization of inflammatory bowel disease in children under six years of age in China

(2018) You-Hong Fang et al.   WORLD JOURNAL OF GASTROENTEROLOGY

Biomarkers of Systemic Inflammation and Growth in Early Infancy are Associated with Stunting in Young Tanzanian Children

(2018) Sana Syed et al.   Nutrients

Identification and characterization of a novelDGAT1missense mutation associated with congenital diarrhea

(2017) Nina L. Gluchowski et al.   JOURNAL OF LIPID RESEARCH

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

(2016) Joshi Stephen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Impaired antibacterial autophagy links granulomatous intestinal inflammation in Niemann–Pick disease type C1 and XIAP deficiency with NOD2 variants in Crohn's disease

(2016) Tobias Schwerd et al.   GUT

MutationTaster2: mutation prediction for the deep-sequencing age

(2014) Jana Marie Schwarz et al.   NATURE METHODS

DGAT1 mutation is linked to a congenital diarrheal disorder

(2012) Joel T. Haas et al.   JOURNAL OF CLINICAL INVESTIGATION

Intestinal DGAT1 deficiency reduces postprandial triglyceride and retinyl ester excursions by inhibiting chylomicron secretion and delaying gastric emptying

(2012) Gene P. Ables et al.   JOURNAL OF LIPID RESEARCH

Clinical practice

(2010) Marjet J. A. M. Braamskamp et al.   EUROPEAN JOURNAL OF PEDIATRICS

Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++

(2010) Eugene V. Davydov et al.   PLoS Computational Biology

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Thematic Review Series: Glycerolipids.DGAT enzymes and triacylglycerol biosynthesis

(2008) Chi-Liang Eric Yen et al.   JOURNAL OF LIPID RESEARCH