about
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndromeSox9b is a key regulator of pancreaticobiliary ductal system developmentNephrocystin-1 and nephrocystin-4 are required for epithelial morphogenesis and associate with PALS1/PATJ and Par6Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomesMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationMutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent NephronophthisisHepatocyte growth factor signaling in intrapancreatic ductal cells drives pancreatic morphogenesisNovel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation.Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronophthisis.A study of new NEK8 mutations in patients with severe renal cystic hypodysplasia and ciliopathy-associated defects.Nephrocystins play a crucial role in renal epithelial morphogenesis via the regulation of Wnt/PCP components Dishevelled and Rho GTPases.
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Marion Delous
@en
Marion Delous
@es
Marion Delous
@nl
Marion Delous
@sl
type
label
Marion Delous
@en
Marion Delous
@es
Marion Delous
@nl
Marion Delous
@sl
prefLabel
Marion Delous
@en
Marion Delous
@es
Marion Delous
@nl
Marion Delous
@sl
P106
P31
P496
0000-0003-2666-4457