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INVS encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains.
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Human Polyclonal Inversin Primary Antibody pour ELISA, WB - ABIN565339
Cox, Sallustio, Serino, Pontrelli, Verrienti, Pesce, Torres, Ancona, Stifanelli, Zaza, Schena: Altered modulation of WNT-beta-catenin and PI3K/Akt pathways in IgA nephropathy. dans Kidney international 2010
Inversin relays Frizzled-8 (Montrer FZD8 Anticorps) signals to promote proximal pronephros development.
The present study indicates that calmodulin binding sites (IQ motifs) are crucial in controlling the biological activity of both mouse and Xenopus inv proteins
Collectively, these results indicated that inversin might promote the tumorigenicity of lung cancer cells and serve as a novel therapeutic target of non-small cell lung cancer.
Akt (Montrer AKT1 Anticorps) phosphorylates inversin at amino acids 864-866 that are required not only for Akt (Montrer AKT1 Anticorps) interaction, but also for inversin dimerization.
Truncating mutations in NPHP2 gene is associated with nephronophthisis-related ciliopathy.
ANKS6 (Montrer ANKS6 Anticorps) as a new NPHP family member that assembles a distinct module of nephronophthisis-associated proteins, encompassing NEK8 (Montrer NEK9 Anticorps), INVS and NPHP3 (Montrer NPHP3 Anticorps).
INVS mutation can cause juvenile nephronophthisis with abnormal reactivity of the Wnt (Montrer WNT2 Anticorps)/beta-catenin (Montrer CTNNB1 Anticorps) pathway.
has conserved ankyrin repeat and IQ domains and interacts with calmodulin
analysis of a homozygous mutation in exon 13 of inversin (INVS) (C2719T, R907X) in a patient with retinitis pigmentosa and renal failure [case report]
Thus, although considered a common variant, inv(10)(p11.2q21.2) has a single ancestral founder among northern Europeans.
Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH (Montrer TENC1 Anticorps)).
screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 (Montrer NPHP3 Anticorps) mutations and determined genotype-phenotype correlations
We constructed sub-congenic lines to more specifically localize the modifier and have determined it resides in a 3.2 Mb interval containing 28 genes. These include Invs and Anks6 (Montrer ANKS6 Anticorps), which are both excellent candidates for the modifier as mutations in these genes result in PKD (Montrer PRKD1 Anticorps) and both genes are known to genetically and physically interact with Nek8 (Montrer NEK8 Anticorps).
Ciliary abnormalities are associated with nphp2 mutant mice.
Loss of NPHP2 causes ciliogenesis defects.
the significance of Inversin in controlling cell migration processes
Nek8 (Montrer NEK8 Anticorps) acts downstream of Inv function
Inv acts as a molecular anchor for Nphp3 (Montrer NPHP3 Anticorps) and Nek8 (Montrer NEK8 Anticorps) in the proximal segment of primary cilia.
the inv gene product functions in several cellular compartments, including the nucleus and cell-cell adhesion sites
Molecular cloning of a gene for inversion of embryo turning (inv) with cystic kidney. Deduced amino acid sequence shows 15 successive repeats of Ank (Montrer ANKH Anticorps)/Swi6 motif in its N-terminal domain. Mutation causes situs inversus and cysts in kidney in inv mutant.
inv has a role in kidney disease: inv mutant mouse has renal cysts resembling infantile NPHP2
The localization of inversin in distal tubules in the kidney and in extrarenal tissues suggests that the expression of this protein has an important function in a variety of organs.
This gene encodes a protein containing multiple ankyrin domains and two IQ calmodulin-binding domains. The encoded protein may function in renal tubular development and function, and in left-right axis determination. This protein interacts with nephrocystin and infers a connection between primary cilia function and left-right axis determination. A similar protein in mice interacts with calmodulin. Mutations in this gene have been associated with nephronophthisis type 2. Multiple transcript variants encoding distinct isoforms have been identified for this gene.
, inversion of embryo turning homolog
, inversion of embryonic turning
, inversion of embryo turning protein
, nephrocystin 2