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NPHP1 encodes a protein with src homology domain 3 (SH3) patterns. Zusätzlich bieten wir Ihnen NPHP1 Antikörper (33) und NPHP1 Proteine (5) und viele weitere Produktgruppen zu diesem Protein an.
Copy number variation analysis of the NPHP1 gene using the commercially available MLPA kit identified a recurrent large homozygous deletion encompassing all NPHP1 exons.
Ocular motor apraxia (OMA) may present with extraocular manifestations (nephronophthisis and cerebellar vermis hypoplasia) and that OMA can be associated with NPHP1 mutations.
dynamic genomic rearrangements occurred historically within the NPHP1 locus and generated SV haplotypes observed in the human population today, which may confer differential susceptibility to genomic instability and the NPHP1 deletion
We report the unexpectedly common retinal involvement of NPHP type 1 with an additional MALL deletion in a Korean cohort.
A homozygous deletion was identified in the NPHP1 gene spanning at least from exon 5 to exon 20 in two families in Iranian children with nephronophthisis.
These results suggest that NPHP1 mutations are probably rare primary causes of Bardet-Biedl syndrome that contribute to the mutational burden of the disorder.
NPHP1 genetic testing is important to diagnose patients with nephronophthisis, familial juvenile disease.
Congenital ocular motor apraxia and Joubert syndrome found to have a compound heterozygous mutation in the NPHP1 gene that is responsible for juvenile nephronophthisis type 1.
Prevalence and incidence estimation of large NPHP1 homozygous deletion in Tunisian patients with clinical pictures of tubulo-interstitiel kidney disorder and chronic renal failure.
Report NPHP1 mutations in nephronophthisis and associated ciliopathies and Joubert syndrome-related disorders.
PC-1 (zeige PCSK1 ELISA Kits) polyproline motif interacts with the SH3 domain (zeige ITSN1 ELISA Kits) of NPHP1.
casein kinase 2 induces PACS-1 (zeige PACS1 ELISA Kits) binding of nephrocystin and targeting to cilia
homozygous Nphp1 mutant mice were viable without renal manifestations of nephronophthisis, but males were infertile with oligoteratozoospermia
Nphp1 affect the sorting mechanism and transportation efficiency of the traffic machinery between inner and outer segments of photoreceptors.
Nphp1 is most abundantly expressed in tissues rich in highly ciliated cells, such as olfactory sensory neurons, and is predicted to be important to cilia.
This gene encodes a protein with src homology domain 3 (SH3) patterns. This protein interacts with Crk-associated substrate, and it appears to function in the control of cell division, as well as in cell-cell and cell-matrix adhesion signaling, likely as part of a multifunctional complex localized in actin- and microtubule-based structures. Mutations in this gene cause familial juvenile nephronophthisis type 1, a kidney disorder involving both tubules and glomeruli. Defects in this gene are also associated with Senior-Loken syndrome type 1, also referred to as juvenile nephronophthisis with Leber amaurosis, which is characterized by kidney and eye disease, and with Joubert syndrome type 4, which is characterized by cerebellar ataxia, oculomotor apraxia, psychomotor delay and neonatal breathing abnormalities, sometimes including retinal dystrophy and renal disease. Multiple transcript variants encoding different isoforms have been found for this gene.
nephronophthisis 1 (juvenile)
, juvenile nephronophthisis 1 protein
, nephrocystin 1
, nephronophthisis 1 (juvenile) homolog