| scholarly article | Q13442814 |
| P2093 | author name string | Alison J Hardcastle | |
| Anthony T Moore | |||
| Kang Zhang | |||
| Samantha Johnson | |||
| Alex G Morris | |||
| David M Hunt | |||
| Reshma J Patel | |||
| Stephanie Halford | |||
| Susan E Wilkie | |||
| P2860 | cites work | Aczonin, a 550-kD putative scaffolding protein of presynaptic active zones, shares homology regions with Rim and Bassoon and binds profilin | Q22010610 |
| A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. | Q40746166 | ||
| A post-docking role for active zone protein Rim. | Q41977207 | ||
| RIM binding proteins (RBPs) couple Rab3-interacting molecules (RIMs) to voltage-gated Ca(2+) channels | Q42861890 | ||
| Rim1 and rabphilin-3 bind Rab3-GTP by composite determinants partially related through N-terminal alpha -helix motifs | Q43657454 | ||
| Protein modelling for all | Q57075376 | ||
| pRIMing synaptic vesicles for fusion | Q58191510 | ||
| The liprin protein SYD-2 regulates the differentiation of presynaptic termini in C. elegans | Q59080665 | ||
| Bipartite Ca2+-binding motif in C2 domains of synaptotagmin and protein kinase C | Q71142569 | ||
| The cone dystrophies | Q77421402 | ||
| Myosin VI is an actin-based motor that moves backwards | Q22010643 | ||
| Direct interaction of the Rab3 effector RIM with Ca2+ channels, SNAP-25, and synaptotagmin | Q24291404 | ||
| A family of RIM-binding proteins regulated by alternative splicing: Implications for the genesis of synaptic active zones | Q24312023 | ||
| Genomic organization and chromosomal localization of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene: a candidate for 6q-linked retinopathies | Q24321098 | ||
| Characterization of unconventional MYO6, the human homologue of the gene responsible for deafness in Snell's waltzer mice | Q24323049 | ||
| Assessment of the interphotoreceptor matrix proteoglycan-1 (IMPG1) gene localised to 6q13-q15 in autosomal dominant Stargardt-like disease (ADSTGD), progressive bifocal chorioretinal atrophy (PBCRA), and North Carolina macular dystrophy (MCDR1). | Q24517958 | ||
| A novel locus for Leber congenital amaurosis maps to chromosome 6q | Q24534329 | ||
| Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q | Q24539021 | ||
| Synaptotagmins form a hierarchy of exocytotic Ca(2+) sensors with distinct Ca(2+) affinities | Q26269975 | ||
| Structure of the first C2 domain of synaptotagmin I: A novel Ca2+/phospholipid-binding fold | Q27729921 | ||
| Rab3a binding and secretion-enhancing domains in Rim1 are separate and unique. Studies in adrenal chromaffin cells | Q27863306 | ||
| Characterization of the gene for HRG4 (UNC119), a novel photoreceptor synaptic protein homologous to unc-119 | Q28116276 | ||
| The small GTP-binding protein Rab3A regulates a late step in synaptic vesicle fusion | Q28119024 | ||
| SNAREpins: minimal machinery for membrane fusion | Q28131697 | ||
| Autosomal dominant Stargardt-like macular dystrophy: I. Clinical characterization, longitudinal follow-up, and evidence for a common ancestry in families linked to chromosome 6q14 | Q28142455 | ||
| Functional interaction of the active zone proteins Munc13-1 and RIM1 in synaptic vesicle priming | Q28188061 | ||
| DSPP mutation in dentinogenesis imperfecta Shields type II | Q28200045 | ||
| Synaptotagmin I functions as a calcium regulator of release probability | Q28204147 | ||
| RIM1alpha forms a protein scaffold for regulating neurotransmitter release at the active zone | Q28215837 | ||
| Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro | Q28242551 | ||
| Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6q | Q28243499 | ||
| Mammalian homologues of Caenorhabditis elegans unc-13 gene define novel family of C2-domain proteins | Q28289561 | ||
| RIM1alpha is required for presynaptic long-term potentiation | Q28508676 | ||
| The RIM/NIM family of neuronal C2 domain proteins. Interactions with Rab3 and a new class of Src homology 3 domain proteins | Q28570571 | ||
| Rim is a putative Rab3 effector in regulating synaptic-vesicle fusion | Q28575529 | ||
| Clinical and genetic studies of an autosomal dominant cone-rod dystrophy with features of Stargardt disease | Q30742275 | ||
| A major locus for autosomal recessive retinitis pigmentosa on 6q, determined by homozygosity mapping of chromosomal regions that contain gamma-aminobutyric acid-receptor clusters | Q34385672 | ||
| Prime movers of synaptic vesicle exocytosis | Q34586871 | ||
| RIM1: an edge for presynaptic plasticity | Q34701741 | ||
| Rabphilin-3A, a putative target protein for smg p25A/rab3A p25 small GTP-binding protein related to synaptotagmin | Q36677635 | ||
| Promiscuity in Rab-SNARE interactions | Q36953236 | ||
| Implications of the SNARE hypothesis for intracellular membrane topology and dynamics | Q40629820 | ||
| P433 | issue | 3 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | cone-rod dystrophy | Q18553315 |
| alternative mRNA splicing, via spliceosome | Q21114084 | ||
| P304 | page(s) | 304-14 | |
| P577 | publication date | 2003-03-01 | |
| P1433 | published in | Genomics | Q5533503 |
| P1476 | title | Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7) | |
| P478 | volume | 81 |
| Q35592909 | A detailed study of the phenotype of an autosomal dominant cone-rod dystrophy (CORD7) associated with mutation in the gene for RIM1. |
| Q35343147 | A genome-wide association study of aging |
| Q24539234 | A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD) |
| Q36976213 | A novel GCAP1(N104K) mutation in EF-hand 3 (EF3) linked to autosomal dominant cone dystrophy |
| Q35635007 | Advances in imaging ultrastructure yield new insights into presynaptic biology |
| Q48176012 | Alternative splicing in the first alpha-helical region of the Rab-binding domain of Rim regulates Rab3A binding activity: is Rim a Rab3 effector protein during evolution? |
| Q28084726 | Biology and therapy of inherited retinal degenerative disease: insights from mouse models |
| Q36462514 | Brg1 coordinates multiple processes during retinogenesis and is a tumor suppressor in retinoblastoma. |
| Q21202953 | Cone rod dystrophies |
| Q33244627 | Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE. |
| Q43457685 | Detection of novel genetic variation in autosomal dominant retinitis pigmentosa |
| Q37681904 | Disease progression in autosomal dominant cone-rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene |
| Q37980726 | Endocytosis and signaling: cell logistics shape the eukaryotic cell plan |
| Q37711187 | GCAP1 mutations associated with autosomal dominant cone dystrophy |
| Q46137938 | Genetic causes of hereditary cone and cone-rod dystrophies |
| Q24657752 | Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation |
| Q57753369 | Interaction of alpha-actinin-4 with class I PxxP motif-containing OK/SW-CL.16 protein |
| Q37209288 | Large-scale molecular analysis of a 34 Mb interval on chromosome 6q: major refinement of the RP25 interval |
| Q58459194 | Mechanism and Genotype-Phenotype Correlation of Two Proximal 6q Deletions Characterized Using mBAND, FISH, Array CGH, and DNA Sequencing |
| Q40564535 | Minimal conditions for exonization of intronic sequences: 5' splice site formation in alu exons |
| Q28238005 | Molecular analysis of RIM1 in autosomal recessive Retinitis pigmentosa |
| Q28286831 | Molecular genetic analysis of two functional candidate genes in the autosomal recessive retinitis pigmentosa, RP25, locus |
| Q41873980 | Mutation analysis at codon 838 of the Guanylate Cyclase 2D gene in Spanish families with autosomal dominant cone, cone-rod, and macular dystrophies. |
| Q39952496 | Mutation associated with an autosomal dominant cone-rod dystrophy CORD7 modifies RIM1-mediated modulation of voltage-dependent Ca2+ channels. |
| Q55670477 | Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families |
| Q90388607 | Natural Genetic Variation Screen in Drosophila Identifies Wnt Signaling, Mitochondrial Metabolism, and Redox Homeostasis Genes as Modifiers of Apoptosis |
| Q42579773 | Novel GUCA1A mutations suggesting possible mechanisms of pathogenesis in cone, cone-rod, and macular dystrophy patients. |
| Q43726745 | Ocular phenotype of CORD5, an autosomal dominant retinal dystrophy associated with PITPNM3 p.Q626H mutation |
| Q42059602 | PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. |
| Q38176700 | Prenylation defects in inherited retinal diseases. |
| Q37559115 | Presynaptic [Ca(2+)] and GCAPs: aspects on the structure and function of photoreceptor ribbon synapses |
| Q52614917 | RIM C2B Domains Target Presynaptic Active Zone Functions to PIP2-Containing Membranes. |
| Q28572143 | Rab3-interacting molecule gamma isoforms lacking the Rab3-binding domain induce long lasting currents but block neurotransmitter vesicle anchoring in voltage-dependent P/Q-type Ca2+ channels |
| Q26269947 | Redundant functions of RIM1alpha and RIM2alpha in Ca(2+)-triggered neurotransmitter release |
| Q46564659 | Redundant localization mechanisms of RIM and ELKS in Caenorhabditis elegans. |
| Q36176309 | Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis |
| Q26770321 | Retinal dystrophies, genomic applications in diagnosis and prospects for therapy |
| Q91583574 | Synaptic ribbons foster active zone stability and illumination-dependent active zone enrichment of RIM2 and Cav1.4 in photoreceptor synapses |
| Q34410593 | Synaptic transmission at retinal ribbon synapses |
| Q37543267 | What drives cell morphogenesis: a look inside the vertebrate photoreceptor |
Search more.