Published in Hum Mol Genet on July 22, 2000
Localization, purification, and functional reconstitution of the P4-ATPase Atp8a2, a phosphatidylserine flippase in photoreceptor disc membranes. J Biol Chem (2009) 1.79
X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms. Prog Retin Eye Res (2012) 1.66
X-linked retinoschisis: an update. J Med Genet (2006) 1.64
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
Molecular pathology of X linked retinoschisis: mutations interfere with retinoschisin secretion and oligomerisation. Br J Ophthalmol (2006) 1.28
Clinical and genetic findings in Hungarian patients with X-linked juvenile retinoschisis. Mol Vis (2008) 1.18
The genetics of inherited macular dystrophies. J Med Genet (2003) 1.14
Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci (2011) 1.05
Mutations in the XLRS1 gene in Thai families with X-linked juvenile retinoschisis. Jpn J Ophthalmol (2010) 1.03
Circadian regulation of ion channels and their functions. J Neurochem (2009) 1.02
Retinoschisin, a new binding partner for L-type voltage-gated calcium channels in the retina. J Biol Chem (2008) 1.00
Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer. J Clin Invest (2015) 0.95
The dynamic architecture of photoreceptor ribbon synapses: cytoskeletal, extracellular matrix, and intramembrane proteins. Vis Neurosci (2011) 0.93
X-linked retinoschisis maculopathy treated with topical dorzolamide, and relationship to genotype. Eye (Lond) (2011) 0.93
Genetic variations in the hotspot region of RS1 gene in Indian patients with juvenile X-linked retinoschisis. Mol Vis (2007) 0.93
Expression profiling after retinal detachment and reattachment: a possible role for aquaporin-0. Invest Ophthalmol Vis Sci (2008) 0.92
R213W mutation in the retinoschisis 1 gene causes X-linked juvenile retinoschisis in a large Chinese family. Mol Vis (2010) 0.92
In-depth mass spectrometric mapping of the human vitreous proteome. Proteome Sci (2013) 0.86
Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose. Biochemistry (2008) 0.85
Null retinoschisin-protein expression from an RS1 c354del1-ins18 mutation causing progressive and severe XLRS in a cross-sectional family study. Invest Ophthalmol Vis Sci (2009) 0.85
Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits. Hum Gene Ther Clin Dev (2014) 0.84
Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene. Doc Ophthalmol (2011) 0.83
Truncation of retinoschisin protein associated with a novel splice site mutation in the RS1 gene. Mol Vis (2008) 0.82
CRX controls retinal expression of the X-linked juvenile retinoschisis (RS1) gene. Nucleic Acids Res (2008) 0.82
Circadian regulation of retinoschisin in the chick retina. Invest Ophthalmol Vis Sci (2008) 0.81
Retinal nerve fibre layer thickness analysis in X-linked retinoschisis using Fourier-domain OCT. Eye (Lond) (2009) 0.81
Macular cysts, holes and cavitations : 2006 Jules Gonin lecture of the Retina Research Foundation. Graefes Arch Clin Exp Ophthalmol (2008) 0.80
Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis. Mol Vis (2012) 0.79
An ex vivo gene therapy approach in X-linked retinoschisis. Mol Vis (2016) 0.78
Regulation of retinoschisin secretion in Weri-Rb1 cells by the F-actin and microtubule cytoskeleton. PLoS One (2011) 0.78
Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function. Hum Gene Ther (2016) 0.77
X-Linked Retinoschisis: Phenotypic Variability in a Chinese Family. Sci Rep (2016) 0.77
Rearing Light Intensity Affects Inner Retinal Pathology in a Mouse Model of X-Linked Retinoschisis but Does Not Alter Gene Therapy Outcome. Invest Ophthalmol Vis Sci (2017) 0.75
A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family. Eye (Lond) (2014) 0.75
X-Linked retinoschisis associated to a novel intragenic microdeletion: case report. BMC Med Genet (2016) 0.75
An approach to correlate tandem mass spectral data of peptides with amino acid sequences in a protein database. J Am Soc Mass Spectrom (1994) 45.51
Large-scale analysis of the yeast proteome by multidimensional protein identification technology. Nat Biotechnol (2001) 28.01
Direct analysis of protein complexes using mass spectrometry. Nat Biotechnol (1999) 12.42
Protein sequencing by tandem mass spectrometry. Proc Natl Acad Sci U S A (1986) 7.09
An automated multidimensional protein identification technology for shotgun proteomics. Anal Chem (2001) 6.90
Retinal repair by transplantation of photoreceptor precursors. Nature (2006) 6.73
The hMre11/hRad50 protein complex and Nijmegen breakage syndrome: linkage of double-strand break repair to the cellular DNA damage response. Cell (1998) 6.58
Retinal degeneration in the rd mouse is caused by a defect in the beta subunit of rod cGMP-phosphodiesterase. Nature (1990) 6.29
Immediate hormonal therapy compared with observation after radical prostatectomy and pelvic lymphadenectomy in men with node-positive prostate cancer. N Engl J Med (1999) 6.21
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science (1997) 6.10
Mus81-Eme1 are essential components of a Holliday junction resolvase. Cell (2001) 5.37
The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells. Hum Mol Genet (2001) 4.79
Clinical features and natural history of von Hippel-Lindau disease. Q J Med (1990) 4.71
A subset of TAF(II)s are integral components of the SAGA complex required for nucleosome acetylation and transcriptional stimulation. Cell (1998) 4.66
Hydrocortisone with or without mitoxantrone in men with hormone-refractory prostate cancer: results of the cancer and leukemia group B 9182 study. J Clin Oncol (1999) 4.12
Restoration of vision after transplantation of photoreceptors. Nature (2012) 3.91
Protein identification at the low femtomole level from silver-stained gels using a new fritless electrospray interface for liquid chromatography-microspray and nanospray mass spectrometry. Anal Biochem (1998) 3.76
Von Hippel-Lindau disease: a genetic study. J Med Genet (1991) 3.61
Porcine circoviruses: a review. J Vet Diagn Invest (2000) 3.53
TRAPP, a highly conserved novel complex on the cis-Golgi that mediates vesicle docking and fusion. EMBO J (1998) 3.49
Activation of Bacillus subtilis transcription factor sigma B by a regulatory pathway responsive to stationary-phase signals. J Bacteriol (1992) 3.42
Nesprins: a novel family of spectrin-repeat-containing proteins that localize to the nuclear membrane in multiple tissues. J Cell Sci (2001) 3.24
Isolation of porcine circovirus-like viruses from pigs with a wasting disease in the USA and Europe. J Vet Diagn Invest (1998) 3.18
Direct analysis and identification of proteins in mixtures by LC/MS/MS and database searching at the low-femtomole level. Anal Chem (1997) 3.09
Coronin promotes the rapid assembly and cross-linking of actin filaments and may link the actin and microtubule cytoskeletons in yeast. J Cell Biol (1999) 3.03
Implication of a novel multiprotein Dam1p complex in outer kinetochore function. J Cell Biol (2001) 2.98
Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet (1987) 2.95
Loss of heterozygosity on chromosome 16p13.3 in hamartomas from tuberous sclerosis patients. Nat Genet (1994) 2.93
Characterization of novel circovirus DNAs associated with wasting syndromes in pigs. J Gen Virol (1998) 2.90
Dual roles for Spt5 in pre-mRNA processing and transcription elongation revealed by identification of Spt5-associated proteins. Mol Cell Biol (2003) 2.77
Dynamic interaction of DNA damage checkpoint protein Rad53 with chromatin assembly factor Asf1. Mol Cell (2001) 2.42
Conventional in-vitro fertilisation versus intracytoplasmic sperm injection for the treatment of non-male-factor infertility: a randomised controlled trial. Lancet (2001) 2.39
Cyclic guanosine monophosphate: elevation in degenerating photoreceptor cells of the C3H mouse retina. Science (1974) 2.34
Genetic linkage of beta and gamma subunits of epithelial sodium channel to systolic blood pressure. Lancet (1999) 2.29
Changes of carbohydrate tolerance in acromegaly with progress of the disease and in response to treatment. J Clin Endocrinol Metab (1967) 2.27
The septins are required for the mitosis-specific activation of the Gin4 kinase. J Cell Biol (1998) 2.24
High throughput protein characterization by automated reverse-phase chromatography/electrospray tandem mass spectrometry. Protein Sci (1998) 2.23
A comparison of rectal indomethacin with placebo for pain relief following spinal surgery. Anaesth Intensive Care (1991) 2.23
Mgm101p is a novel component of the mitochondrial nucleoid that binds DNA and is required for the repair of oxidatively damaged mitochondrial DNA. J Cell Biol (1999) 2.22
Protein identification by solid phase microextraction-capillary zone electrophoresis-microelectrospray-tandem mass spectrometry. Nat Biotechnol (1996) 2.19
The ATM-related cofactor Tra1 is a component of the purified SAGA complex. Mol Cell (1998) 2.18
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
X linked retinoschisis. Br J Ophthalmol (1995) 2.13
Retinal degeneration in mice lacking the gamma subunit of the rod cGMP phosphodiesterase. Science (1996) 2.11
Clinical and Molecular genetics of Stickler syndrome. J Med Genet (1999) 2.05
p63 Gene mutations in eec syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype-phenotype correlation. Am J Hum Genet (2001) 2.02
The ADA complex is a distinct histone acetyltransferase complex in Saccharomyces cerevisiae. Mol Cell Biol (1999) 2.00
Cystic fibrosis identified by neonatal screening: incidence, genotype, and early natural history. Arch Dis Child (1993) 1.99
Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses. Prenat Diagn (1984) 1.97
Evaluation of questionnaire on cancer family history in identifying patients at increased genetic risk in general practice. BMJ (1999) 1.97
Tandem quadrupole Fourier-transform mass spectrometry of oligopeptides and small proteins. Proc Natl Acad Sci U S A (1987) 1.96
Localization of a retroviral element within the rd gene coding for the beta subunit of cGMP phosphodiesterase. Proc Natl Acad Sci U S A (1993) 1.95
Automated identification of amino acid sequence variations in proteins by HPLC/microspray tandem mass spectrometry. Anal Chem (2000) 1.93
The insulin-like growth factor (IGF)-dependent IGF binding protein-4 protease secreted by human fibroblasts is pregnancy-associated plasma protein-A. Proc Natl Acad Sci U S A (1999) 1.90
Experimental reproduction of severe wasting disease by co-infection of pigs with porcine circovirus and porcine parvovirus. J Comp Pathol (1999) 1.88
A deletion in a photoreceptor-specific nuclear receptor mRNA causes retinal degeneration in the rd7 mouse. Proc Natl Acad Sci U S A (2000) 1.88
Arp2/3 complex and actin dynamics are required for actin-based mitochondrial motility in yeast. Proc Natl Acad Sci U S A (2001) 1.88
Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet (1998) 1.87
Molecular characterisation of SMARCB1 and NF2 in familial and sporadic schwannomatosis. J Med Genet (2008) 1.87
Identification and characterization of five new subunits of TRAPP. Eur J Cell Biol (2000) 1.84
Structural characterization of toxic cyclic peptides from blue-green algae by tandem mass spectrometry. Proc Natl Acad Sci U S A (1989) 1.84
Kinetics of folding of the IgG binding domain of peptostreptococcal protein L. Biochemistry (1997) 1.83
Viral wasting syndrome of swine: experimental reproduction of postweaning multisystemic wasting syndrome in gnotobiotic swine by coinfection with porcine circovirus 2 and porcine parvovirus. Vet Pathol (2000) 1.82
Selective degradation of ubiquitinated Sic1 by purified 26S proteasome yields active S phase cyclin-Cdk. Mol Cell (2001) 1.82
A family with Stickler syndrome type 2 has a mutation in the COL11A1 gene resulting in the substitution of glycine 97 by valine in alpha 1 (XI) collagen. Hum Mol Genet (1996) 1.81
The tuberous sclerosis gene on chromosome 9q34 acts as a growth suppressor. Hum Mol Genet (1994) 1.81
Pharmacological disruption of the outer limiting membrane leads to increased retinal integration of transplanted photoreceptor precursors. Exp Eye Res (2008) 1.78
Characterization by a monoclonal antibody and functional analysis of a subset of bovine T lymphocytes that express BoT8, a molecule analogous to human CD8. Immunology (1986) 1.75
Degenerative changes in a retina affected with autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci (1989) 1.75
The low density lipoprotein receptor-related protein/alpha2-macroglobulin receptor is a receptor for connective tissue growth factor. J Biol Chem (2001) 1.73
Clinical features in affected males with X-linked retinoschisis. Arch Ophthalmol (1996) 1.73
Prevalence and incidence of hepatitis C virus infection in the US military: a seroepidemiologic survey of 21,000 troops. Am J Epidemiol (2001) 1.71
Investigation of an outbreak of Salmonella enteritidis gastroenteritis associated with consumption of eggs in a restaurant chain in Maryland. Am J Epidemiol (1988) 1.71
Long-term follow-up of a phase III intergroup study of cisplatin alone or in combination with methotrexate, vinblastine, and doxorubicin in patients with metastatic urothelial carcinoma: a cooperative group study. J Clin Oncol (1997) 1.70
Identifying the major proteome components of Haemophilus influenzae type-strain NCTC 8143. Electrophoresis (1997) 1.69
Analysis of the OA1 gene reveals mutations in only one-third of patients with X-linked ocular albinism. Hum Mol Genet (1995) 1.64
Targeted disruption of outer limiting membrane junctional proteins (Crb1 and ZO-1) increases integration of transplanted photoreceptor precursors into the adult wild-type and degenerating retina. Cell Transplant (2010) 1.64
Activation of the immune system is the pivotal event in the production of wasting disease in pigs infected with porcine circovirus-2 (PCV-2). Vet Pathol (2001) 1.62
Deletion of a DNA sequence in eight of nine families with X-linked ichthyosis (steroid sulphatase deficiency). Nucleic Acids Res (1987) 1.62
CA repeat polymorphism at the ASS locus. Nucleic Acids Res (1990) 1.59
The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane. J Cell Sci (1999) 1.57
Enzymic basis for cyclic GMP accumulation in degenerative photoreceptor cells of mouse retina. J Cyclic Nucleotide Res (1976) 1.56
Inhibition of apical but not basolateral endocytosis of ricin and folate in Caco-2 cells by cytochalasin D. J Cell Sci (1994) 1.56
Proteomics reveal a link between the endoplasmic reticulum and lipid secretory mechanisms in mammary epithelial cells. Electrophoresis (2000) 1.55
Tra1p is a component of the yeast Ada.Spt transcriptional regulatory complexes. J Biol Chem (1998) 1.55
Delayed childbearing. BMJ (1995) 1.53
Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod (1995) 1.52
The yeast SAS (something about silencing) protein complex contains a MYST-type putative acetyltransferase and functions with chromatin assembly factor ASF1. Genes Dev (2001) 1.52
Primary structure and function of an A kinase anchoring protein associated with calcium channels. Neuron (1998) 1.51
Effective transplantation of photoreceptor precursor cells selected via cell surface antigen expression. Stem Cells (2011) 1.50
Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Invest (1995) 1.49
In vivo MHC class II presentation of cytosolic proteins revealed by rapid automated tandem mass spectrometry and functional analyses. Eur J Immunol (2001) 1.48
Aberrant intracellular targeting and cell cycle-dependent phosphorylation of emerin contribute to the Emery-Dreifuss muscular dystrophy phenotype. J Cell Sci (1998) 1.47
DNA replication checkpoint promotes G1-S transcription by inactivating the MBF repressor Nrm1. Proc Natl Acad Sci U S A (2008) 1.46
Retinal degeneration is rescued in transgenic rd mice by expression of the cGMP phosphodiesterase beta subunit. Proc Natl Acad Sci U S A (1992) 1.46
COL2A1 exon 2 mutations: relevance to the Stickler and Wagner syndromes. Br J Ophthalmol (2000) 1.45
Serine 727 phosphorylation and activation of cytosolic phospholipase A2 by MNK1-related protein kinases. J Biol Chem (2000) 1.43
Low temperature storage and grafting of human ovarian tissue. Hum Reprod (1996) 1.43
Diagnosis of persistent bovine viral diarrhea virus infection by immunohistochemical staining of formalin-fixed skin biopsy specimens. J Vet Diagn Invest (2000) 1.42