Microvillus inclusion disease with prenatal ultrasound findings and postpartum confirmed
Sign Up to like & getrecommendations! Published in 2022 at "Prenatal Diagnosis"
DOI: 10.1002/pd.6013
Abstract: A 31‐year‐old woman at 32 weeks of gestation was referred to our hospital for polyhydramnios and fetal small bowel dilatation (Movie S1). The stomach was normal in size and location (Figure 1). Amniotic fluid electrolytes… read more here.
Keywords: findings postpartum; ultrasound findings; prenatal ultrasound; microvillus inclusion ... See more keywords
Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects
Sign Up to like & getrecommendations! Published in 2021 at "Human Genetics"
DOI: 10.1007/s00439-021-02284-1
Abstract: Biallelic STX3 variants were previously reported in five individuals with the severe congenital enteropathy, microvillus inclusion disease (MVID). Here, we provide a significant extension of the phenotypic spectrum caused by STX3 variants. We report ten… read more here.
Keywords: retinal dystrophy; stx3 variants; disease; microvillus inclusion ... See more keywords
Editing Myosin VB Gene to Create Porcine Model of Microvillus Inclusion Disease, With Microvillus-lined Inclusions and Alterations in Sodium Transporters.
Sign Up to like & getrecommendations! Published in 2020 at "Gastroenterology"
DOI: 10.1053/j.gastro.2020.02.034
Abstract: BACKGROUND & AIMS Microvillus inclusion disease (MVID) is caused by inactivating mutations in the myosin VB gene (MYO5B). MVID is a complex disorder characterized by chronic, watery, life-threatening diarrhea that usually begins in the first… read more here.
Keywords: microvillus inclusion; inclusion disease; disease; myosin gene ... See more keywords
Lysophosphatidic Acid Increases Maturation of Brush Borders and SGLT1 activity in MYO5B-deficient Mice, a Model of Microvillus Inclusion Disease.
Sign Up to like & getrecommendations! Published in 2020 at "Gastroenterology"
DOI: 10.1053/j.gastro.2020.06.008
Abstract: BACKGROUND & AIM Myosin VB (MYO5B) is an essential trafficking protein for membrane recycling in gastrointestinal epithelial cells. The inactivating mutations of MYO5B cause the congenital diarrheal disease, microvillus inclusion disease (MVID). MYO5B deficiency in… read more here.
Keywords: microvillus inclusion; inclusion disease; mice; myo5b ... See more keywords