Published in Mamm Genome on April 01, 2004
Melanosomes--dark organelles enlighten endosomal membrane transport. Nat Rev Mol Cell Biol (2007) 3.19
Disorders of lysosome-related organelle biogenesis: clinical and molecular genetics. Annu Rev Genomics Hum Genet (2008) 2.83
Direct production of mouse disease models by embryo microinjection of TALENs and oligodeoxynucleotides. Proc Natl Acad Sci U S A (2013) 2.63
Genetic analysis of lysosomal trafficking in Caenorhabditis elegans. Mol Biol Cell (2005) 2.44
BLOC-3 mutated in Hermansky-Pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr Biol (2012) 1.74
Mechanism of platelet dense granule biogenesis: study of cargo transport and function of Rab32 and Rab38 in a model system. Blood (2012) 1.70
BLOC-2, AP-3, and AP-1 proteins function in concert with Rab38 and Rab32 proteins to mediate protein trafficking to lysosome-related organelles. J Biol Chem (2012) 1.33
Modeling disease mutations by gene targeting in one-cell mouse embryos. Proc Natl Acad Sci U S A (2012) 1.25
Mechanisms of protein delivery to melanosomes in pigment cells. Physiology (Bethesda) (2012) 1.19
Rab38 modulates proteinuria in model of hypertension-associated renal disease. J Am Soc Nephrol (2013) 0.98
A mutation in Rab38 small GTPase causes abnormal lung surfactant homeostasis and aberrant alveolar structure in mice. Am J Pathol (2008) 0.96
Rab38 targets to lamellar bodies and normalizes their sizes in lung alveolar type II epithelial cells. Am J Physiol Lung Cell Mol Physiol (2011) 0.94
An immunoblotting assay to facilitate the molecular diagnosis of Hermansky-Pudlak syndrome. Mol Genet Metab (2007) 0.94
Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous lysosome biogenesis machinery to synthesize specialized lysosome-related organelles. Small GTPases (2012) 0.94
Myosin vc interacts with Rab32 and Rab38 proteins and works in the biogenesis and secretion of melanosomes. J Biol Chem (2014) 0.93
A data-mining approach to rank candidate protein-binding partners-The case of biogenesis of lysosome-related organelles complex-1 (BLOC-1). J Inherit Metab Dis (2008) 0.92
Analysis of ocular hypopigmentation in Rab38cht/cht mice. Invest Ophthalmol Vis Sci (2007) 0.91
Temporal characterization of the development of renal injury in FHH rats and FHH.1BN congenic strains. Am J Physiol Renal Physiol (2010) 0.88
Genomic landscape of positive natural selection in Northern European populations. Eur J Hum Genet (2009) 0.86
C. elegans as a model for membrane traffic. WormBook (2014) 0.84
Rab GTPases, membrane trafficking and diseases. Curr Drug Targets (2011) 0.83
The role of the small GTPase Rab31 in cancer. J Cell Mol Med (2014) 0.81
Darkness descends with two Rabs. J Cell Biol (2006) 0.81
Rab32 and Rab38 genes in chordate pigmentation: an evolutionary perspective. BMC Evol Biol (2016) 0.75
Identification of Atg2 and ArfGAP1 as Candidate Genetic Modifiers of the Eye Pigmentation Phenotype of Adaptor Protein-3 (AP-3) Mutants in Drosophila melanogaster. PLoS One (2015) 0.75
Exogenous gene transfer of Rab(3)8 small GTPase ameliorates aberrant lung surfactant homeostasis in Ruby rats. Respir Res (2017) 0.75
A bout analysis of operant response disruption. Behav Processes (2017) 0.75
Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor. Mol Cell (1999) 4.67
The color loci of mice--a genetic century. Pigment Cell Res (2003) 3.47
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet (2003) 2.78
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet (1996) 2.47
Mutation of melanosome protein RAB38 in chocolate mice. Proc Natl Acad Sci U S A (2002) 2.02
Mouse models of Hermansky Pudlak syndrome: a review. Pigment Cell Res (1998) 1.83
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet (2001) 1.83
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
Renal disease susceptibility and hypertension are under independent genetic control in the fawn-hooded rat. Nat Genet (1996) 1.61
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet (2003) 1.54
Genetic mapping and characterization of the bleeding disorder in the fawn-hooded hypertensive rat. Thromb Haemost (2003) 1.53
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A (2003) 1.46
Hereditary defect in platelet function in rats. Blood (1972) 1.35
Serological cloning of a melanocyte rab guanosine 5'-triphosphate-binding protein and a chromosome condensation protein from a melanoma complementary DNA library. Cancer Res (2000) 1.23
Human and mouse disorders of pigmentation. Curr Opin Genet Dev (2003) 1.10
Expression and localization of a novel Rab small G protein (Rab38) in the rat lung. Am J Pathol (2001) 0.93
Multi-organellar disorders of pigmentation: tied up in traffic. Clin Genet (1999) 0.88
The LEXF: a new set of rat recombinant inbred strains between LE/Stm and F344. Mamm Genome (1997) 0.88
Hermansky-Pudlak syndrome and pale ear: melanosome-making for the millennium. Pigment Cell Res (2000) 0.87
The Fawn-Hooded (FH/Wjd) rat: a genetic animal model of comorbid depression and alcoholism. Psychiatr Genet (2002) 0.87
Platelet storage pool disease in hybrid rats. F1 fawn-hooded rats derived from crosses with their putative ancestors (Rattus norvegicus). J Hered (1984) 0.83
Spontaneous hypertension in the fawn-hooded rat: a cardiovascular disease model. J Hypertens Suppl (1986) 0.81
Genetics of the fawn-hooded rat strain. The coat color dilution and platelet storage pool deficiency are pleiotropic effects of the autosomal recessive red-eyed dilution gene. J Hered (1984) 0.80
Fawn-hooded rats, the fawn mutation and interaction of pink-eyed and red-eyed dilution genes. J Hered (1981) 0.77
7,12-DMBA-induced rat leukemia: a review with insights into future research. Leuk Res (2002) 0.77
Pulmonary artery pressure in rats with hereditary platelet function defect. Respiration (1988) 0.77
Linkage studies of the Rat: X. Proc Natl Acad Sci U S A (1949) 0.75
TM rats: a model for platelet storage pool deficiency. Exp Anim (1997) 0.75
Characterization of platelet abnormalities of Tester Moriyama (TM) rats with storage pool deficiency. Lab Anim Sci (1998) 0.75
Progress and prospects in rat genetics: a community view. Nat Genet (2008) 6.01
NALP1 in vitiligo-associated multiple autoimmune disease. N Engl J Med (2007) 3.99
Generation of knockout rats with X-linked severe combined immunodeficiency (X-SCID) using zinc-finger nucleases. PLoS One (2010) 3.09
Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res (2003) 3.07
SNP and haplotype mapping for genetic analysis in the rat. Nat Genet (2008) 2.96
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1). Nat Genet (2003) 2.78
Variant of TYR and autoimmunity susceptibility loci in generalized vitiligo. N Engl J Med (2010) 2.47
Endonuclease G is a novel determinant of cardiac hypertrophy and mitochondrial function. Nature (2011) 1.98
Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet (2012) 1.81
Deletion of the SLUG (SNAI2) gene results in human piebaldism. Am J Med Genet A (2003) 1.72
Hermansky-Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene. Nat Genet (2002) 1.67
Cblb is a major susceptibility gene for rat type 1 diabetes mellitus. Nat Genet (2002) 1.63
Ru2 and Ru encode mouse orthologs of the genes mutated in human Hermansky-Pudlak syndrome types 5 and 6. Nat Genet (2003) 1.54
Genome sequencing reveals loci under artificial selection that underlie disease phenotypes in the laboratory rat. Cell (2013) 1.53
Fine-mapping of vitiligo susceptibility loci on chromosomes 7 and 9 and interactions with NLRP1 (NALP1). J Invest Dermatol (2009) 1.51
Early disease onset and increased risk of other autoimmune diseases in familial generalized vitiligo. Pigment Cell Res (2005) 1.50
Biomedical discovery acceleration, with applications to craniofacial development. PLoS Comput Biol (2009) 1.49
The mouse organellar biogenesis mutant buff results from a mutation in Vps33a, a homologue of yeast vps33 and Drosophila carnation. Proc Natl Acad Sci U S A (2003) 1.46
National BioResource Project-Rat and related activities. Exp Anim (2009) 1.41
Apparent genotype-phenotype correlation in childhood, adolescent, and adult Chediak-Higashi syndrome. Am J Med Genet (2002) 1.39
Emergence of fibroblasts with a proinflammatory epigenetically altered phenotype in severe hypoxic pulmonary hypertension. J Immunol (2011) 1.39
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci (2008) 1.39
Efficient gene targeting by TAL effector nucleases coinjected with exonucleases in zygotes. Sci Rep (2013) 1.33
The adventitia: essential regulator of vascular wall structure and function. Annu Rev Physiol (2012) 1.31
Slc7a11 gene controls production of pheomelanin pigment and proliferation of cultured cells. Proc Natl Acad Sci U S A (2005) 1.28
Common variants in FOXP1 are associated with generalized vitiligo. Nat Genet (2010) 1.25
An ENU-induced mutant archive for gene targeting in rats. Nat Genet (2008) 1.19
Novel vitiligo susceptibility loci on chromosomes 7 (AIS2) and 8 (AIS3), confirmation of SLEV1 on chromosome 17, and their roles in an autoimmune diathesis. Am J Hum Genet (2004) 1.15
Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J Invest Dermatol (2010) 1.14
Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8. J Invest Dermatol (2009) 1.14
The Hermansky-Pudlak syndrome 1 (HPS1) and HPS4 proteins are components of two complexes, BLOC-3 and BLOC-4, involved in the biogenesis of lysosome-related organelles. J Biol Chem (2003) 1.13
NLRP1 haplotypes associated with vitiligo and autoimmunity increase interleukin-1β processing via the NLRP1 inflammasome. Proc Natl Acad Sci U S A (2013) 1.12
Side population cells from human melanoma tumors reveal diverse mechanisms for chemoresistance. J Invest Dermatol (2012) 1.12
Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol (2006) 1.12
Spatial and temporal analysis of gene expression during growth and fusion of the mouse facial prominences. PLoS One (2009) 1.11
Mapping of an autoimmunity susceptibility locus (AIS1) to chromosome 1p31.3-p32.2. Hum Mol Genet (2002) 1.09
Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol (2008) 1.09
Restoration of aspartoacylase activity in CNS neurons does not ameliorate motor deficits and demyelination in a model of Canavan disease. Mol Ther (2005) 1.08
Candidate functional promoter variant in the FOXD3 melanoblast developmental regulator gene in autosomal dominant vitiligo. J Invest Dermatol (2005) 1.08
A Melanoma Brain Metastasis with a Donor-Patient Hybrid Genome following Bone Marrow Transplantation: First Evidence for Fusion in Human Cancer. PLoS One (2013) 1.08
Genome-wide analysis identifies a quantitative trait locus in the MHC class II region associated with generalized vitiligo age of onset. J Invest Dermatol (2011) 1.08
Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. J Invest Dermatol (2012) 1.07
A set of highly informative rat simple sequence length polymorphism (SSLP) markers and genetically defined rat strains. BMC Genet (2006) 1.05
Generation and characterization of severe combined immunodeficiency rats. Cell Rep (2012) 1.04
Genetic variations in NALP1 are associated with generalized vitiligo in a Romanian population. J Invest Dermatol (2007) 1.03
Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat. J Clin Invest (2006) 1.03
Enhanced colitis-associated colon carcinogenesis in a novel Apc mutant rat. Cancer Sci (2009) 1.02
PTPN22 is genetically associated with risk of generalized vitiligo, but CTLA4 is not. J Invest Dermatol (2008) 1.00
Expression quantitative trait loci analysis of 13 genes in the rat prostate. Genetics (2005) 1.00
Frontiers and controversies in the pathobiology of vitiligo: separating the wheat from the chaff. Exp Dermatol (2009) 0.99
NBRP databases: databases of biological resources in Japan. Nucleic Acids Res (2009) 0.99
A genomewide screen for generalized vitiligo: confirmation of AIS1 on chromosome 1p31 and evidence for additional susceptibility loci. Am J Hum Genet (2003) 0.99
Rat Phenome Project: the untapped potential of existing rat strains. J Appl Physiol (1985) (2005) 0.97
Progressive Purkinje cell degeneration in tambaleante mutant mice is a consequence of a missense mutation in HERC1 E3 ubiquitin ligase. PLoS Genet (2009) 0.96
High frequency of Hermansky-Pudlak syndrome type 1 (HPS1) among Japanese albinism patients and functional analysis of HPS1 mutant protein. J Invest Dermatol (2005) 0.96
A mutation in the gene encoding mitochondrial Mg²+ channel MRS2 results in demyelination in the rat. PLoS Genet (2011) 0.94
Pluripotent stem cells and other technologies will eventually open the door for straightforward gene targeting in the rat. Dis Model Mech (2009) 0.94
HLA class II haplotype DRB1*04-DQB1*0301 contributes to risk of familial generalized vitiligo and early disease onset. Pigment Cell Res (2006) 0.93
Identification and distribution of aspartoacylase in the postnatal rat brain. Neuroreport (2003) 0.92
The Slc35d3 gene, encoding an orphan nucleotide sugar transporter, regulates platelet-dense granules. Blood (2006) 0.92
A Romanian population isolate with high frequency of vitiligo and associated autoimmune diseases. Arch Dermatol (2008) 0.92
Deletion of a conserved regulatory element required for Hmx1 expression in craniofacial mesenchyme in the dumbo rat: a newly identified cause of congenital ear malformation. Dis Model Mech (2012) 0.91
The ataxic groggy rat has a missense mutation in the P/Q-type voltage-gated Ca2+ channel alpha1A subunit gene and exhibits absence seizures. Brain Res (2006) 0.91
Myelin lipid abnormalities in the aspartoacylase-deficient tremor rat. Neurochem Res (2008) 0.91
Evaluation of LEXF/FXLE rat recombinant inbred strains for genetic dissection of complex traits. Physiol Genomics (2007) 0.91
Differential effects of donor and recipient IL28B and DDX58 SNPs on severity of HCV after liver transplantation. J Hepatol (2013) 0.90
A 5-bp insertion in Mip causes recessive congenital cataract in KFRS4/Kyo rats. PLoS One (2012) 0.90
Cryopreservation of spermatozoa from closed colonies, and inbred, spontaneous mutant, and transgenic strains of rats. Comp Med (2003) 0.89
Separation of antiepileptogenic and antiseizure effects of levetiracetam in the spontaneously epileptic rat (SER). Epilepsia (2005) 0.89
Origins of albino and hooded rats: implications from molecular genetic analysis across modern laboratory rat strains. PLoS One (2012) 0.88
Genetic analyses of fancy rat-derived mutations. Exp Anim (2010) 0.88
A missense mutation of the gene encoding voltage-dependent sodium channel (Nav1.1) confers susceptibility to febrile seizures in rats. J Neurosci (2010) 0.87
Rat resources in biomedical research. Curr Pharm Biotechnol (2009) 0.87
Long-lasting antiepileptic effects of levetiracetam against epileptic seizures in the spontaneously epileptic rat (SER): differentiation of levetiracetam from conventional antiepileptic drugs. Epilepsia (2005) 0.87
Identification of the rat Rex mutation as a 7-bp deletion at splicing acceptor site of the Krt71 gene. J Vet Med Sci (2010) 0.86
Rat neurological mutations cerebellar vermis defect and hobble are caused by mutations in the netrin-1 receptor gene Unc5h3. Brain Res Mol Brain Res (2004) 0.86
Global expression analysis of N-methyl-N'-nitro-N-nitrosoguanidine-induced rat stomach carcinomas using oligonucleotide microarrays. Carcinogenesis (2003) 0.86
Activation by N-acetyl-L-aspartate of acutely dissociated hippocampal neurons in rats via metabotropic glutamate receptors. Epilepsia (2003) 0.86
Regional expression of Fos-like immunoreactivity following seizures in Noda epileptic rat (NER). Epilepsy Res (2009) 0.85
Functional polymorphisms in inbred rat strains and their allele frequencies in commercially available outbred stocks. Physiol Genomics (2008) 0.85
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene. BMC Genet (2011) 0.85
Mutation analysis of the PVRL1 gene in caucasians with nonsyndromic cleft lip/palate. Genet Test Mol Biomarkers (2009) 0.85
Infertility associated with meiotic failure in the tremor rat (tm/tm) is caused by the deletion of spermatogenesis associated 22. Exp Anim (2013) 0.84
CTLA4 and generalized vitiligo: two genetic association studies and a meta-analysis of published data. Pigment Cell Melanoma Res (2009) 0.84
A rat model for LGI1-related epilepsies. Hum Mol Genet (2012) 0.84
Preferential increase in the hippocampal synaptic vesicle protein 2A (SV2A) by pentylenetetrazole kindling. Biochem Biophys Res Commun (2009) 0.84
Analysis of genomewide association signals for nonsyndromic cleft lip/palate in a Kenya African Cohort. Am J Med Genet A (2011) 0.83
Osteopontin is an endogenous modulator of the constitutively activated phenotype of pulmonary adventitial fibroblasts in hypoxic pulmonary hypertension. Am J Physiol Lung Cell Mol Physiol (2012) 0.83