Molecular genetics of nephronophthisis and medullary cystic kidney disease

Molecular genetics of nephronophthisis and medullary cystic kidney disease

Item
http://www.wikidata.org/entity/Q28145036
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionA gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolutionDescription, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformation.Nephrocystin interacts with Pyk2, p130(Cas), and tensin and triggers phosphorylation of Pyk2Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic NephropathyDiagnostic Imaging of Autosomal Dominant Polycystic Kidney Disease.Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determinationNPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development.Nephronophthisis: disease mechanisms of a ciliopathy.Phosphorylation by casein kinase 2 induces PACS-1 binding of nephrocystin and targeting to cilia.At the crossroads of homoeostasis and disease: roles of the PACS proteins in membrane traffic and apoptosis.Stem cells and fluid flow drive cyst formation in an invertebrate excretory organPseudodominant inheritance of nephronophthisis caused by a homozygous NPHP1 deletionMany Genes-One Disease? Genetics of Nephronophthisis (NPHP) and NPHP-Associated Disorders.
P2860

Molecular genetics of nephronophthisis and medullary cystic kidney disease

Item
http://www.wikidata.org/entity/Q28145036
description
2000 nî lūn-bûn
@nan
2000 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2000 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
name
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@ast
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@en
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@nl
type
label
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@ast
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@en
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@nl
prefLabel
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@ast
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@en
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@nl
P1433
P1476
P2093
P304
P31
P3181
P407
P433
P478
P577
P698
P3181
P1433
P1476
Molecular genetics of nephronophthisis and medullary cystic kidney disease
@en
P2093
P304
P31
P3181
P407
P433
P478
P577
P698