Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
about
PKHD1 protein encoded by the gene for autosomal recessive polycystic kidney disease associates with basal bodies and primary cilia in renal epithelial cellsPolycystic kidney disease protein fibrocystin localizes to the mitotic spindle and regulates spindle bipolarityLiver and kidney disease in ciliopathiesPolycystic kidney disease - where gene dosage countsEvidence for a "Pathogenic Triumvirate" in Congenital Hepatic Fibrosis in Autosomal Recessive Polycystic Kidney DiseaseWhole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli diseaseThe ciliary protein cystin forms a regulatory complex with necdin to modulate Myc expressionFibrocystin/polyductin modulates renal tubular formation by regulating polycystin-2 expression and functionAn ovine hepatorenal fibrocystic model of a Meckel-like syndrome associated with dysmorphic primary cilia and TMEM67 mutations.Functional alterations due to amino acid changes and evolutionary comparative analysis of ARPKD and ADPKD genesAutosomal recessive polycystic kidney disease: antenatal diagnosis and histopathological correlation.Polyductin undergoes notch-like processing and regulated release from primary ciliaAutosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF).Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.Design and Implementation of the Hepatorenal Fibrocystic Disease Core Center Clinical Database: A Centralized Resource for Characterizing Autosomal Recessive Polycystic Kidney Disease and Other Hepatorenal Fibrocystic DiseasesActivation of Trpv4 reduces the hyperproliferative phenotype of cystic cholangiocytes from an animal model of ARPKD.Autosomal recessive polycystic kidney disease: a hepatorenal fibrocystic disorder with pleiotropic effectsPolycystic kidney disease: inheritance, pathophysiology, prognosis, and treatment.Neurocognition in children with autosomal recessive polycystic kidney disease in the CKiD cohort studyIntragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1.Autosomal recessive polycystic kidney disease: the importance of autopsy of suspected cases and genetic counsellingBiliary dysgenesis in the PCK rat, an orthologous model of autosomal recessive polycystic kidney diseaseEpitope-tagged Pkhd1 tracks the processing, secretion, and localization of fibrocystin.Congenital hepatic fibrosis in autosomal recessive polycystic kidney disease.Magnetic resonance microscopy of renal and biliary abnormalities in excised tissues from a mouse model of autosomal recessive polycystic kidney diseasePKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats.Immunohistochemical detection of polyductin and co-localization with liver progenitor cell markers during normal and abnormal development of the intrahepatic biliary system and in adult hepatobiliary carcinomas.Molecular genetic analysis of PKHD1 by next-generation sequencing in Czech families with autosomal recessive polycystic kidney disease.Biliary and pancreatic dysgenesis in mice harboring a mutation in Pkhd1.New approaches to the autosomal recessive polycystic kidney disease patient with dual kidney-liver complications.Role of genetic modifiers in an orthologous rat model of ARPKD.Recent Progress of the ARegPKD Registry Study on Autosomal Recessive Polycystic Kidney Disease.Rapamycin-mediated suppression of renal cyst expansion in del34 Pkd1-/- mutant mouse embryos: an investigation of the feasibility of renal cyst prevention in the foetus.Autosomal recessive polycystic kidney disease diagnosed in fetus.Early bilateral nephrectomy in infantile autosomal recessive polycystic kidney disease.Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
P2860
Q24311878-2877E888-2AD9-4093-93E5-CFDCEC0052FDQ24322601-ACED0308-7789-4C8D-A34F-46889892F7C3Q24633724-CF1F3F53-D308-40D5-AB8A-4A48D4DD1866Q27012746-A3F6B6B2-0FE6-45D3-BF1F-1DE816BAB93FQ28079756-6B7B3A59-5DF2-4B6F-9596-C433D6F942AFQ28542021-914EE73A-4FCC-4346-9CF4-BC6297F8A0F2Q28591172-81ACE960-36AD-4EF8-9B5F-96191BEC8D0FQ28594258-7824F230-2B1D-4F7D-9E9C-0202FC219C6DQ29994736-6D3EC96A-6AED-4B69-8863-F1EF650C8870Q30395199-E50AF5B7-7DB0-442D-A1AD-570FECF9586AQ30453104-5AEB1602-3F47-48B1-9C43-0BF5587F983BQ30479973-CC4B4FFD-E828-4B8D-873B-C04C31DF860BQ30480074-2D2D89F9-DCA2-463E-A330-296B8EF3C892Q30482657-1D0A2789-5599-4BD7-A0D2-BCE1726E3585Q33581306-5D6C99DB-F16C-454A-B754-B5868A78A001Q33987179-5D042311-975C-4391-8297-C8E7CBBD186AQ34086721-6395FB7B-9891-4E23-81B4-D085190CCFCFQ34194508-8462B2B6-A2BB-4B08-9B2E-CE1775F49CCAQ34207251-CEEE70FA-5165-4744-A71F-253F5E48089DQ34339024-5633B99C-A5D6-44F4-B758-27C789EF4FFDQ34523113-F83A3089-DC88-4C8F-B4CE-6A4216F472A6Q35103361-F1929C2D-0226-4117-9AE1-23CAED7B5601Q35647871-875FA91B-5E79-421C-B042-4A5CEBAEC588Q35655072-40652CCE-2740-4F7F-9973-60A466992392Q35759778-F6156946-24D8-41BC-B1A4-EE7CD2B87F88Q35764727-F16754D2-11A9-4761-9103-353B330FC3A1Q35832090-75546806-ABA4-4AF7-AAB8-FC5DAB0B2A45Q35876050-9E47A6C7-E1CB-47EE-9CAF-429AD721134EQ36559697-446D29BF-DFFE-4F12-8A39-80990F5A2D14Q36874632-4F681CAE-3B48-44FD-A73A-D47AA2094816Q37175838-55F8C477-1752-49E1-A7F2-DEF8A8DAAF0CQ38744693-6978C19B-FB1B-43CD-98E0-359FA548A982Q41667238-A9D1E39A-5EFB-4EC1-9006-E3D11B787961Q41851449-9EF1E74D-C602-4FA9-A885-EA5A4E6349D1Q46188586-362EB777-17E5-4931-9D52-50BD78960696Q50211745-E33F246D-CDD7-4733-85FE-84FF942FF9B7
P2860
Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): molecular genetics, clinical experience, and fetal morphology.
description
1998 nî lūn-bûn
@nan
1998 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի մարտին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@ast
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@en
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@nl
type
label
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@ast
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@en
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@nl
prefLabel
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@ast
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@en
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@nl
P2093
P1476
Prenatal diagnosis of autosoma ...... erience, and fetal morphology.
@en
P2093
Germino GG
Guay-Woodford LM
Heikkilä P
Rudnik-Schöneborn S
P304
P356
10.1002/(SICI)1096-8628(19980305)76:2<137::AID-AJMG6>3.3.CO;2-O
P577
1998-03-01T00:00:00Z