Brief clinical and laboratory observationA lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease
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Cited by (53)
Platelet VPS16B is dependent on VPS33B expression, as determined in two siblings with arthrogryposis, renal dysfunction, and cholestasis syndrome
2022, Journal of Thrombosis and HaemostasisFeatures of Pena-Shokeir Syndrome
2018, Volpe's Neurology of the NewbornVps33b is crucial for structural and functional hepatocyte polarity
2017, Journal of HepatologyCitation Excerpt :Basolateral membrane proteins were not mislocalised in Vps33bfl/fl-AlfpCre hepatocytes, suggesting a specific role for VPS33B in biogenesis of the bile canaliculus. As we observed in mutant mice that MRP2 is functional and normally sited, as is MRP2 in ARC patients [11], we infer that the collections of Dubin-Johnson-like pigment in some ARC patients’ hepatocytes [42] are unlikely to originate from MRP2 absence or dysfunction. To assess defects in structural components of hepatocyte polarity, we analysed tight junction integrity in Vps33bfl/fl-AlfpCre and Vps33bfl/fl liver.
The complex phenotype of ARC syndrome: A new case
2017, Archives de PediatrieArthrogryposes (Multiple Congenital Contractures)
2013, Emery and Rimoin's Principles and Practice of Medical GeneticsTrafficking and Transporter Disorders in Pediatric Cholestasis
2010, Clinics in Liver DiseaseCitation Excerpt :As in BRIC-1 and PFIC-1, then, the failure of GGT values to rise can be ascribed to unavailability of GGT for elution into bile, with reflux into plasma. Of interest is that hepatocytes in ARC may accumulate DJS-like pigment,13,61 suggesting dysfunction of MRP2. The genes involved in MVID and ARC, like those in PFIC-1 and PFIC-2, were identified by homozygosity mapping rather than as orthologues of genes implicated in hepatobiliary disease of animals.