Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea: a case report of a 17-year-old patient and literature review-Reference-Cited by-同舟云学术

Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea: a case report of a 17-year-old patient and literature review

Published:2022-06-28 Issue:5 Volume:481 Page:785-791
ISSN:0945-6317
Container-title:Virchows Archiv
language:en
Short-container-title:Virchows Arch

Author:

Deolet Ellen^ORCID,Callewaert Bert^ORCID,Geldof Jeroen^ORCID,Van Biervliet Stephanie^ORCID,Vande Velde Saskia^ORCID,Van Dorpe Jo^ORCID,Van Winckel Myriam^ORCID,Hoorens Anne^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Cell Biology,Molecular Biology,General Medicine,Pathology and Forensic Medicine

Link

https://link.springer.com/content/pdf/10.1007/s00428-022-03365-w.pdf

Reference15 articles.

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2. Cases S, Stone SJ, Zhou P, Yen E, Tow B, Lardizabal KD, Voelker T, Farese RV Jr (2001) Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members. J Biol Chem 276:38870–38876. https://doi.org/10.1074/jbc.M106219200

3. Ensari A, Kelsen J, Russo P (2018) Newcomers in paediatric GI pathology: childhood enteropathies including very early onset monogenic. IBD Virchows Archiv 472:111–123. https://doi.org/10.1007/s00428-017-2197-9

4. Gluchowski NL, Chitraju C, Picoraro JA, Mejhert N, Pinto S, Xin W, Kamin DS, Winter HS, Chung WK, Walther TC, Farese RV Jr (2017) Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. J Lipid Res 58:1230–1237. https://doi.org/10.1194/jlr.P075119

5. Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT (2020) Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eur J Med Genet 63:103817. https://doi.org/10.1016/j.ejmg.2019.103817

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