PMID- 29174091
OWN - NLM
STAT- MEDLINE
DCOM- 20180827
LR  - 20180827
IS  - 1878-0849 (Electronic)
IS  - 1769-7212 (Linking)
VI  - 61
IP  - 4
DP  - 2018 Apr
TI  - Pancreatic hemi-agenesis in MEN1: A clinical report.
PG  - 181-184
LID - S1769-7212(17)30416-0 [pii]
LID - 10.1016/j.ejmg.2017.11.013 [doi]
AB  - We first describe a patient with multiple endocrine neoplasia type 1 (MEN1) and 
      dorsal pancreatic hemi-agenesis. Previously, pancreas divisum has been reported 
      in MEN1. Recent data in mice have elucidated the molecular mechanisms of 
      pancreatic endoderm specification. Disinhibition of hedgehog signaling appears to 
      be important in how Gata4 and Gata6 variants cause pancreatic agenesis. 
      Disinhibition of hedgehog signaling has also been observed in Men1 knockout 
      pancreatic islets. Although we cannot exclude a spurious association between 
      dorsal pancreatic hemi-agenesis and MEN1 in our patient, we argue that 
      developmental abnormalities of the pancreas may have to be considered as possibly 
      related to the MEN1 phenotype.
CI  - Copyright (c) 2017 Elsevier Masson SAS. All rights reserved.
FAU - Vinck, Wouter J
AU  - Vinck WJ
AD  - Department of Endocrinology, Sint Augustinus Hospital, Wilrijk, Belgium. 
      Electronic address: wouter.vinck@skynet.be.
FAU - Van de Mierop, Frank
AU  - Van de Mierop F
AD  - Department of Gastroenterology, Sint Augustinus Hospital, Wilrijk, Belgium.
FAU - Van Mieghem, Francois
AU  - Van Mieghem F
AD  - Department of Radiology, Sint Augustinus Hospital, Wilrijk, Belgium.
FAU - Vinck, Maarten
AU  - Vinck M
AD  - Department of Biology, KU Leuven, Leuven, Belgium.
FAU - Becq, Herman
AU  - Becq H
AD  - Department of Endocrinology, Sint Augustinus Hospital, Wilrijk, Belgium.
FAU - Michils, Genevieve
AU  - Michils G
AD  - Centre for Human Genetics, KU Leuven, Leuven, Belgium.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20171123
PL  - Netherlands
TA  - Eur J Med Genet
JT  - European journal of medical genetics
JID - 101247089
RN  - 0 (MEN1 protein, human)
RN  - 0 (Proto-Oncogene Proteins)
SB  - IM
MH  - Adult
MH  - Female
MH  - Humans
MH  - Multiple Endocrine Neoplasia Type 1/diagnostic imaging/*genetics/pathology
MH  - Mutation
MH  - Pancreas/*abnormalities
MH  - Pedigree
MH  - Phenotype
MH  - Proto-Oncogene Proteins/*genetics
OTO - NOTNLM
OT  - Developmental gene expression regulation
OT  - Digestive system abnormalities
OT  - Multiple endocrine neoplasia type 1
OT  - Pancreas
EDAT- 2017/11/28 06:00
MHDA- 2018/08/28 06:00
CRDT- 2017/11/28 06:00
PHST- 2017/07/20 00:00 [received]
PHST- 2017/10/09 00:00 [revised]
PHST- 2017/11/21 00:00 [accepted]
PHST- 2017/11/28 06:00 [pubmed]
PHST- 2018/08/28 06:00 [medline]
PHST- 2017/11/28 06:00 [entrez]
AID - S1769-7212(17)30416-0 [pii]
AID - 10.1016/j.ejmg.2017.11.013 [doi]
PST - ppublish
SO  - Eur J Med Genet. 2018 Apr;61(4):181-184. doi: 10.1016/j.ejmg.2017.11.013. Epub 
      2017 Nov 23.