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IQ motif containing B1

This gene encodes a nephrocystin protein that interacts with calmodulin and the retinitis pigmentosa GTPase regulator protein. The encoded protein has a central coiled-coil region and two calmodulin-binding IQ domains. It is localized to the primary cilia of renal epithelial cells and connecting cilia of photoreceptor cells. The protein is thought to play a role in ciliary function. Defects in this gene result in Senior-Loken syndrome type 5. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2009] (from NCBI)
Top mentioned proteins: AGE, HAD, aminopeptidase, OUT, CAN
Papers on PIQ
[Clinical efficacy on mental retardation in the children treated with JIN's three scalp needling therapy and the training for cognitive and perceptual disturbance].
Wu et al., In Zhongguo Zhen Jiu, Jul 2015
Before and after treatment, the Wechsler intelligence scale for children (WISC) was used for evaluation and observation of verbal intelligence quotient (VIQ) , performance intelligence quotient (PIQ) and full-scale intelligence quotient (TFIQ) and score changes of 11 items such as information, picture vocabu; lary, arithmetic, picture generalization, comprehension, etc. RESULTS: After treatment, FIQ, VIQ and PIQ scores were different significantly as compared with those before treatment (all P<0.
Discovery of directional and nondirectional pioneer transcription factors by modeling DNase profile magnitude and shape.
Gifford et al., Boston, United States. In Nat Biotechnol, 2014
We describe protein interaction quantitation (PIQ), a computational method for modeling the magnitude and shape of genome-wide DNase I hypersensitivity profiles to identify transcription factor (TF) binding sites.
Role of plasma homocysteine levels and MTHFR polymorphisms on IQ scores in children and young adults with epilepsy treated with antiepileptic drugs.
Tortorella et al., Messina, Italy. In Epilepsy Behav, 2013
and the mean PIQ score was 86.94 (SD±21.51).
[Cognitive profiles in pervasive developmental disorders].
Poinso et al., Marseille, France. In Encephale, 2012
RESULTS: Children with Asperger syndrome have VIQ more than PIQ and the children with autism have VIQ less than PIQ.
Binding and NMR structural studies on indoloquinoline-oligonucleotide conjugates targeting duplex DNA.
Weisz et al., Greifswald, Germany. In Bioconjug Chem, 2012
An 11-phenyl-indolo[3,2-b]quinoline (PIQ) was tethered through an aminoalkyl linker to the 5'-end of four pyrimidine oligonucleotides with T/C scrambled sequences at their two 5'-terminal positions.
Whole-exome sequencing identifies ALMS1, IQCB1, CNGA3, and MYO7A mutations in patients with Leber congenital amaurosis.
Chen et al., Houston, United States. In Hum Mutat, 2011
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations, including four novel alleles, in six families; These five mutations are located in four genes, ALMS1, IQCB1, CNGA3, and MYO7A
Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR.
Daiger et al., Houston, United States. In Adv Exp Med Biol, 2011
Genetic variation may affect severity of disease for X-linked retinitis pigmentosa.
Intellectual functioning of childhood leukemia survivors--relation to Tau protein--a marker of white matter injury.
Braszko et al., Białystok, Poland. In Adv Med Sci, 2011
Females had higher values of Performance Intelligence Quotient (PIQ) than males.
[Relationship between gene mutations and intelligence in children with Duchenne muscular dystrophy].
Tan et al., Shenyang, China. In Zhongguo Dang Dai Er Ke Za Zhi, 2011
The FIQ, verbal intelligence quotient (VIQ), performance intelligence quotient (PIQ) and the scores of 11 sub-tests of intelligence in the DMD group were significantly lower than those in the control group (P<0.01).
Evaluation of working memory impairment in children with primary nocturnal enuresis: evidence from event-related functional magnetic resonance imaging.
Liu et al., Shenyang, China. In J Paediatr Child Health, 2011
The full intelligence quotient (FIQ), verbal IQ (VIQ), performance IQ (PIQ) and memory/caution (M/C) factor were measured.
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Swaroop et al., Philadelphia, United States. In Hum Mol Genet, 2011
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
Jacobson et al., Iowa City, United States. In Arch Ophthalmol, 2011
Mutations in NPHP5 can cause Leber congenital amaurosis (LCA)without early-onset renal disease.
Genome-scan for IQ discrepancy in autism: evidence for loci on chromosomes 10 and 16.
Wijsman et al., Seattle, United States. In Hum Genet, 2011
Performance IQ (PIQ) greater than verbal IQ (VIQ) is often observed in studies of the cognitive abilities of autistic individuals.
Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations.
Daiger et al., Houston, United States. In Plos One, 2010
Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations.
Focal neuronal damage in patients with neuropsychological impairment after diffuse traumatic brain injury: evaluation using ¹¹C-flumazenil positron emission tomography with statistical image analysis.
Tamiya et al., Miki, Japan. In J Neurotrauma, 2010
Full-scale IQ (FIQ) and performance IQ (PIQ) negatively correlated with the degree of FMZ BP reduction (BZR index) in the right thalamus.
Spectroscopic and calorimetric studies on the triplex formation with oligonucleotide-ligand conjugates.
Weisz et al., Greifswald, Germany. In Bioconjug Chem, 2010
Several triplex-forming 9-mer oligonucleotide (TFO) conjugates with a methyl- or methoxy-substituted 5-phenyl-6H-indolo[3,2-b]quinoline (PIQ) attached at the 5'-terminus or 3'-terminus or at an internal C5 thymine position were synthesized and tested for their ability to form and stabilize a triple helix with a double-helical DNA target employing UV melting experiments, fluorescence titrations, and isothermal titration calorimetry (ITC).
Cognitive profile in a large French cohort of adults with Prader-Willi syndrome: differences between genotypes.
Thuilleaux et al., France. In J Intellect Disabil Res, 2010
Verbal Intellectual Quotient (VIQ): 53.0 (Q1:48; Q3:62) and Performance Intellectual Quotient (PIQ): 52.5 (Q1:48; Q3:61).
[Hematopoietic cell transplantation in X-linked adrenoleukodystrophy].
Kato, Isehara, Japan. In Brain Nerve, 2007
Patients with a parietal-occipital lobe pattern of demyelination demonstrated a greater mean loss of performance IQ (PIQ) points than patients with a frontal lobe pattern of demyelination.
[Preparation of novel specific aminopeptidase inhibitors with a cyclic imide skeleton].
Hashimoto et al., Tokyo, Japan. In Yakugaku Zasshi, 2000
Especially, 2-(2,6-diethylphenyl)-1,2,3,4-tetrahydroisoquinoline-1,3-dione (PIQ-22) (3) was found to be the most potent inhibitor and further it showed potent tumor-cell invasion inhibitory activity that is more effective than potent peptide aminopeptidase inhibitors such as bestatin (1) or actinonin (2).
Novel small molecule nonpeptide aminopeptidase n inhibitors with a cyclic imide skeleton.
Hashimoto et al., Tokyo, Japan. In J Enzyme Inhib, 1998
Evaluation of their protease inhibitory activities revealed that (i) some N-phenylphthalimide analogs are potent APN inhibitors, but they are also inhibitors of another protease, dipeptidylpeptidase IV (DPP-IV), and (ii) some N-phenylhomophthalimide analogs, including 2-(2,6-diethylphenyl)-1,2,3,4-tetrahydroisoquinoline-1,3-dione (PIQ-22), are potent and specific inhibitors of APN without DPP-IV-inhibitory activity.
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