Pages that link to "Q24301994"
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The following pages link to Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness (Q24301994):
Displaying 50 items.
- Calcium binding protein 4 (Q21116929) (← links)
- Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness (Q21710708) (← links)
- Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy (Q24306524) (← links)
- Membrane targeting of the EF-hand containing calcium-sensing proteins CaBP7 and CaBP8 (Q24311522) (← links)
- Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy (Q24568378) (← links)
- The diversity of calcium sensor proteins in the regulation of neuronal function (Q24604134) (← links)
- Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus) (Q24644487) (← links)
- Neuronal calcium sensor proteins: generating diversity in neuronal Ca2+ signalling (Q24676146) (← links)
- Retinal dystrophies, genomic applications in diagnosis and prospects for therapy (Q26770321) (← links)
- A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness (Q27320207) (← links)
- Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing (Q28084651) (← links)
- A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness (Q28767407) (← links)
- Chemistry and biology of the initial steps in vision: the Friedenwald lecture. (Q30368025) (← links)
- The diverse roles of ribbon synapses in sensory neurotransmission (Q30475345) (← links)
- Estimating ON and OFF contributions to the photopic hill: normative data and clinical applications. (Q30828769) (← links)
- Bioinformatic analysis of CaBP/calneuron proteins reveals a family of highly conserved vertebrate Ca2+-binding proteins (Q33567157) (← links)
- A null mutation in CABP4 causes Leber's congenital amaurosis-like phenotype (Q33645591) (← links)
- Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2 (Q33702563) (← links)
- Localization and expression of CaBP1/caldendrin in the mouse brain. (Q33767251) (← links)
- Analysis of transcriptional regulatory pathways of photoreceptor genes by expression profiling of the Otx2-deficient retina (Q33908230) (← links)
- Computational analysis of tissue-specific gene networks: application to murine retinal functional studies. (Q34110365) (← links)
- A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness (Q34169360) (← links)
- Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness (Q34318093) (← links)
- Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4) (Q34467572) (← links)
- More than a pore: ion channel signaling complexes (Q34491609) (← links)
- Characterization of the calcium binding protein family in zebrafish (Q34558444) (← links)
- Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations (Q34702170) (← links)
- Assessment of night vision problems in patients with congenital stationary night blindness (Q34712842) (← links)
- Targeted next generation sequencing identifies novel mutations in RP1 as a relatively common cause of autosomal recessive rod-cone dystrophy (Q35016836) (← links)
- Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa (Q35225965) (← links)
- A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family (Q35629094) (← links)
- GNAT1 associated with autosomal recessive congenital stationary night blindness (Q35921448) (← links)
- Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness (Q36257781) (← links)
- A mutation in CABP2, expressed in cochlear hair cells, causes autosomal-recessive hearing impairment (Q36358411) (← links)
- Assessing retinal structure in complete congenital stationary night blindness and Oguchi disease (Q36400102) (← links)
- Expression and subcellular distribution of UNC119a, a protein partner of transducin α subunit in rod photoreceptors (Q36428182) (← links)
- Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation (Q36533292) (← links)
- Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness (Q36903762) (← links)
- Optimization of single-photon response transmission at the rod-to-rod bipolar synapse (Q36910759) (← links)
- Molecular genetics of infantile-onset retinal dystrophies (Q36959926) (← links)
- Kinetics of synaptic transmission at ribbon synapses of rods and cones (Q36978896) (← links)
- Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics (Q36980803) (← links)
- Photoreceptor and postreceptor responses in congenital stationary night blindness (Q37012780) (← links)
- Ca(v)1 L-type Ca2+ channel signaling complexes in neurons (Q37081747) (← links)
- The molecular architecture of ribbon presynaptic terminals (Q37239696) (← links)
- Phosphorylation of the Ca2+-binding protein CaBP4 by protein kinase C zeta in photoreceptors (Q37244375) (← links)
- Lack of CaBP1/Caldendrin or CaBP2 Leads to Altered Ganglion Cell Responses (Q37373695) (← links)
- Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark. (Q37560461) (← links)
- Molecular profiling of complete congenital stationary night blindness: a pilot study on an Indian cohort (Q37656373) (← links)
- Novel splice-site mutation in TTLL5 causes cone dystrophy in a consanguineous family (Q37714200) (← links)