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The protein encoded by PKHD1 is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Zusätzlich bieten wir Ihnen und viele weitere Produktgruppen zu diesem Protein an.
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SEven novel mutations in PKHD1 gene were identified in 15 Chinese families with polycystic kidney disease.
This report expands the spectrum of PKHD1 mutations in probands with autosomal recessive polycystic kidney disease and confirms the allelic heterogeneity of this disorder.
In this study, the entire PKHD1 coding region was amplified by 29 reactions to avoid the specific PCR amplification of individual exons, which generated the size of 1 to 7 kb products by LR PCR. This method was compared to the screening method with standard direct sequencing of each individual exon of the gene by a reference laboratory in 15 patients with ARPKD
Data show that the compound heterozygous mutations of c.11314C>T from mother and a missense c.889T>A from father of the polycystic kidney and hepatic disease 1 protein (PKHD1) gene were identified in the fetus.
Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
Results identified six novel mutations (PKHD1: p.Thr777Met, p.Tyr2260Cys; ABCB11 (zeige ABCB11 Antikörper): p.Val1112Phe, c.611+1G > A, p.Gly628Trpfs*3 and NPC1 (zeige NPC1 Antikörper): p.Glu391Lys) for the diagnostic of inherited infantile cholestatic disorders.
Data indicate that seventeen different polycystic kidney and hepatic disease 1 (autosomal recessive) protein (PKHD1) mutations (5 novel) were detected, including deletion of one exon.
Our data provide strong evidence that the p.M627K substitution at the PKHD1 locus is a founder mutation for Autosomal recessive polycystic kidney disease in the Afrikaner population
A novel c.9059T>C mutation in PKHD1 gene expands mutation spectrum for autosomal recessive polycystic kidney disease.
Both polycystins were detected on the spindle and mid-body of mitotic cells, while fibrocystin was on centrosome throughout cell cycle.
this study shows that loss of functional Pkhd1 on the NOD background produces early bile duct abnormalities, initiating a break in tolerance that leads to autoimmune cholangitis in NOD.Abd3 congenic mice
fibrocystin-defective cholangiocytes are characterized by a beta (zeige SUCLA2 Antikörper)-catenin (zeige CTNNB1 Antikörper)-dependent secretion of a range of chemokines which stimulate bone marrow-derived macrophage recruitment
Intragenic motifs regulate the transcriptional complexity of Pkhd1/PKHD1
Mutations in the Pkhd1 gene result in autosomal recessive polycystic kidney disease (ARPKD) in humans.
PKHD1 localizes to the mitotic spindle and regulates spindle bipolarity.
Loss of oriented cell division is a feature of Pkhd1 mutation and cyst formation, but it is neither sufficient to produce kidney cysts nor required to initiate cyst formation after mutation in Pkd1 (zeige PKD1 Antikörper) or Pkd2 (zeige PKD2 Antikörper).
key features of human PKHD1 are highly conserved in the mouse suggesting that the complicated pattern of splicing is likely to be functionally important.
In cultured renal cells, the PKHD1 gene product colocalized with polycystin-2 (zeige PKD2 Antikörper), the gene product of autosomal dominant polycystic disease type 2.
the hepatocyte nuclear factor-1beta (HNF-1beta (zeige HNF1B Antikörper)) C-terminal domain has a role in Pkhd1 (ARPKD) gene transcription and renal cystogenesis
The role of polyductin in liver and kidney may be functionally divergent, because protein domains essential for bile duct development do not affect nephrogenesis in our mouse model.
The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1.
TIG multiple domains 1
, polycystic kidney and hepatic disease 1 protein
, polycystic kidney and hepatic disease 1 (autosomal recessive)
, polycystic kidney and hepatic disease 1 homolog