about
Joubert Syndrome and related disordersA complex of BBS1 and NPHP7 is required for cilia motility in zebrafishNephrocystins and MKS proteins interact with IFT particle and facilitate transport of selected ciliary cargosARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopiesMouse models of ciliopathies: the state of the art.Nephronophthisis and related syndromesThe ciliary protein nephrocystin-4 translocates the canonical Wnt regulator Jade-1 to the nucleus to negatively regulate β-catenin signalingMutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule stabilizationChemically inducible diffusion trap at cilia reveals molecular sieve-like barrier.A novel mutation causing nephronophthisis in the Lewis polycystic kidney rat localises to a conserved RCC1 domain in Nek8Juvenile nephronophthisis and dysthyroidism: a rare associationMutations of CEP83 cause infantile nephronophthisis and intellectual disabilityCSPP is a ciliary protein interacting with Nephrocystin 8 and required for cilia formation.A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGSMALDI imaging MS reveals candidate lipid markers of polycystic kidney diseaseAn efficient and comprehensive strategy for genetic diagnostics of polycystic kidney diseaseStem cells and fluid flow drive cyst formation in an invertebrate excretory organEducational paper: ciliopathies.The Senior-Loken syndrome: Two cases from the State of Qatar.Cystic kidney diseases: many ways to form a cyst.Diagnosis and management of childhood polycystic kidney disease.Nephronophthisis cannot be detected by urinary screening program.The extracellular matrix and ciliary signalingThe ciliary cytoskeleton.An approach to cystic kidney diseases: the clinician's view.Ciliopathies: Genetics in Pediatric Medicine.Nephrocystin-4 regulates Pyk2-induced tyrosine phosphorylation of nephrocystin-1 to control targeting to monocilia.Senior-loken syndrome with rare manifestations: a case report.Nephronophthisis: a genetically diverse ciliopathyJoubert syndrome with variable features: presentation of two cases.Planarian 'kidneys' go with the flow.Post renal transplant type 2 diabetes mellitus in a case of familial juvenile nephrophthisis.Gene mutation analysis in Iranian children with nephronophthisis: a two-center study.Recent advances in the molecular diagnosis of polycystic kidney disease.Many Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.Clinical and genetic characteristics of Japanese nephronophthisis patients.Genetics of Autosomal Recessive Polycystic Kidney Disease and Its Differential Diagnoses.Engineering small tubes with changes in diameter for the study of kidney cell organization.Cystic Kidney Diseases From the Adult Nephrologist's Point of View.The ratio of urinary α1-microglobulin to microalbumin can be used as a diagnostic criterion for tubuloproteinuria.
P2860
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P2860
description
2008 nî lūn-bûn
@nan
2008年の論文
@ja
2008年学术文章
@wuu
2008年学术文章
@zh-cn
2008年学术文章
@zh-hans
2008年学术文章
@zh-my
2008年学术文章
@zh-sg
2008年學術文章
@yue
2008年學術文章
@zh
2008年學術文章
@zh-hant
name
Nephronophthisis.
@ast
Nephronophthisis.
@en
Nephronophthisis.
@nl
type
label
Nephronophthisis.
@ast
Nephronophthisis.
@en
Nephronophthisis.
@nl
prefLabel
Nephronophthisis.
@ast
Nephronophthisis.
@en
Nephronophthisis.
@nl
P2093
P2860
P921
P1433
P1476
Nephronophthisis.
@en
P2093
Patrick Niaudet
Rémi Salomon
Sophie Saunier
P2860
P2888
P304
P356
10.1007/S00467-008-0840-Z
P577
2008-07-08T00:00:00Z
2009-12-01T00:00:00Z
P5875
P6179
1048563628