PubRank

H T Orr

Author PubWeight™ 175.66‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998 6.24
2 Glutamine repeats and neurodegeneration. Annu Rev Neurosci 2000 6.06
3 Major histocompatibility antigens: the human (HLA-A, -B, -C) and murine (H-2K, H-2D) class I molecules. Cell 1981 5.81
4 Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1. Nat Genet 1998 4.27
5 Identification of genes that modify ataxin-1-induced neurodegeneration. Nature 2000 4.02
6 Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994 3.89
7 Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet 1993 3.28
8 Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997 3.16
9 Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14. Science 1992 3.14
10 Molecular cloning of a human histocompatibility antigen cDNA fragment. Proc Natl Acad Sci U S A 1980 2.99
11 SCA1 transgenic mice: a model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995 2.96
12 A human major histocompatibility complex class I gene that encodes a protein with a shortened cytoplasmic segment. Proc Natl Acad Sci U S A 1987 2.77
13 Assembly and maturation of HLA-A and HLA-B antigens in vivo. Cell 1979 2.73
14 Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1. Nat Neurosci 2000 2.72
15 Complete amino acid sequence of a papain-solubilized human histocompatibility antigen, HLA-B7. 2. Sequence determination and search for homologies. Biochemistry 1979 2.71
16 Cloning and complete sequence of an HLA-A2 gene: analysis of two HLA-A alleles at the nucleotide level. J Immunol 1985 2.43
17 Structure of crossreactive human histocompatibility antigens HLA-A28 and HLA-A2: possible implications for the generation of HLA polymorphism. Proc Natl Acad Sci U S A 1982 2.36
18 Linkage map of the human major histocompatibility complex including the tumor necrosis factor genes. Proc Natl Acad Sci U S A 1987 2.31
19 Carbohydrate moiety of HLA antigens. Antigenic properties and amino acid sequences around the site of glycosylation. J Biol Chem 1977 2.30
20 Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron 1999 2.25
21 Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice. Hum Mol Genet 2001 2.13
22 Identification and characterization of the gene causing type 1 spinocerebellar ataxia. Nat Genet 1994 2.13
23 Transfer and expression of three cloned human non-HLA-A,B,C class I major histocompatibility complex genes in mutant lymphoblastoid cells. Proc Natl Acad Sci U S A 1988 2.12
24 Mutations that impair a posttranscriptional step in expression of HLA-A and -B antigens. Proc Natl Acad Sci U S A 1985 2.05
25 Purkinje cell expression of a mutant allele of SCA1 in transgenic mice leads to disparate effects on motor behaviors, followed by a progressive cerebellar dysfunction and histological alterations. J Neurosci 1997 1.99
26 Comparison of amino acid sequences of two human histocompatibility antigens, HLA-A2 and HLA-B7: location of putative alloantigenic sites. Proc Natl Acad Sci U S A 1979 1.94
27 Isolation of HLA locus-specific DNA probes from the 3'-untranslated region. Proc Natl Acad Sci U S A 1984 1.93
28 Biosynthesis and cell surface localization of nonglycosylated human histocompatibility antigens. J Immunol 1981 1.91
29 A gene responsible for cavernous malformations of the brain maps to chromosome 7q. Hum Mol Genet 1995 1.74
30 HLA-E. A novel HLA class I gene expressed in resting T lymphocytes. J Immunol 1988 1.73
31 The heavy chain of human histocompatibility antigen HLA-B7 contains an immunoglobulin-like region. Nature 1979 1.70
32 Expression analysis of the ataxin-1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals. Nat Genet 1995 1.70
33 Report of the Second International Workshop on Human Chromosome 6. Genomics 1994 1.64
34 Linkage and mutational analysis of familial Alzheimer disease kindreds for the APP gene region. Am J Hum Genet 1992 1.63
35 The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1. Nature 1997 1.61
36 Class I-like HLA genes map telomeric to the HLA-A2 locus in human cells. Nature 1983 1.60
37 Use of HLA loss mutants to analyse the structure of the human major histocompatibility complex. Nature 1982 1.56
38 Spinocerebellar ataxia: localization of an autosomal dominant locus between two markers on human chromosome 6. Am J Hum Genet 1987 1.55
39 Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1995 1.51
40 Mapping of class I DNA sequences within the human major histocompatibility complex. Immunogenetics 1983 1.50
41 Differential expression of HLA-E, HLA-F, and HLA-G transcripts in human tissue. Hum Immunol 1990 1.48
42 Mice lacking ataxin-1 display learning deficits and decreased hippocampal paired-pulse facilitation. J Neurosci 1998 1.46
43 Localization of the autosomal dominant HLA-linked spinocerebellar ataxia (SCA1) locus, in two kindreds, within an 8-cM subregion of chromosome 6p. Am J Hum Genet 1991 1.43
44 cDNA cloning and characterization of three genes uniquely expressed in cerebellum by Purkinje neurons. J Neurosci 1988 1.43
45 Disrupted cerebellar cortical development and progressive degeneration of Purkinje cells in SV40 T antigen transgenic mice. Neuron 1992 1.36
46 Human leukocyte antigen F (HLA-F). An expressed HLA gene composed of a class I coding sequence linked to a novel transcribed repetitive element. J Exp Med 1990 1.33
47 Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein. Hum Mol Genet 2000 1.29
48 Spinocerebellar ataxia type 1. Semin Cell Biol 1995 1.29
49 The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract. Hum Mol Genet 2001 1.27
50 Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998 1.26
51 The HLA class I gene family includes at least six genes and twelve pseudogenes and gene fragments. J Immunol 1992 1.25
52 Altered trafficking of membrane proteins in purkinje cells of SCA1 transgenic mice. Am J Pathol 2001 1.24
53 The apolipoprotein E/CI/CII gene cluster and late-onset Alzheimer disease. Am J Hum Genet 1994 1.23
54 Polyglutamine diseases: protein cleavage and aggregation. Curr Opin Neurobiol 1999 1.23
55 Distribution of 3':5'-cyclic AMP and 3':5'-cyclic GMP in rabbit retina in vivo: selective effects of dark and light adaptation and ischemia. Proc Natl Acad Sci U S A 1976 1.19
56 Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995 1.17
57 Increased trinucleotide repeat instability with advanced maternal age. Hum Mol Genet 1997 1.15
58 Identification of a self-association region within the SCA1 gene product, ataxin-1. Hum Mol Genet 1997 1.12
59 HLA and maternal-fetal recognition. FASEB J 1992 1.11
60 Repeat instability and motor incoordination in mice with a targeted expanded CAG repeat in the Sca1 locus. Hum Mol Genet 2000 1.11
61 Dinucleotide repeat polymorphism at the D6S109 locus. Nucleic Acids Res 1991 1.07
62 Complete amino acid sequence of a papain-solubilized human histocompatibility antigen HLA-B7. 1. Isolation and amino acid composition of fragments and of tryptic and chymotryptic peptides. Biochemistry 1979 1.03
63 Spinocerebellar ataxia type-1 and spinobulbar muscular atrophy gene products interact with glyceraldehyde-3-phosphate dehydrogenase. Hum Mol Genet 1996 1.03
64 The distribution of taurine in the vertebrate retina. J Neurochem 1976 1.01
65 Organization of the human class I major histocompatibility complex genes. Immunol Res 1987 0.99
66 Chromosome 14 and late-onset familial Alzheimer disease (FAD). Am J Hum Genet 1993 0.98
67 Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7. Hum Mol Genet 1999 0.98
68 Extraembryonic expression of the human MHC class I gene HLA-G in transgenic mice. Evidence for a positive regulatory region located 1 kilobase 5' to the start site of transcription. J Immunol 1993 0.97
69 Chromosomal organization of the human major histocompatibility complex class I gene family. J Exp Med 1989 0.96
70 In vivo viability of postmitotic Purkinje neurons requires pRb family member function. Mol Cell Neurosci 1995 0.95
71 Purkinje cell protein-2 regulatory regions and transgene expression in cerebellar compartments. Genes Dev 1991 0.95
72 Calcium dynamics and electrophysiological properties of cerebellar Purkinje cells in SCA1 transgenic mice. J Neurophysiol 2001 0.95
73 Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig. Genome Res 1995 0.94
74 HLA non-A,B,C class I genes: their structure and expression. Immunol Res 1990 0.94
75 HLA-AR, an inactivated antigen-presenting locus related to HLA-A. Implications for the evolution of the MHC. J Immunol 1990 0.94
76 The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am J Hum Genet 1993 0.94
77 Autosomal dominant spinocerebellar ataxia: locus heterogeneity in a Nebraska kindred. Neurology 1992 0.91
78 Cloning and developmental expression analysis of the murine homolog of the spinocerebellar ataxia type 1 gene (Sca1). Hum Mol Genet 1996 0.90
79 Familial cerebral cavernous angioma: a gene localized to a 15-cM interval on chromosome 7q. Ann Neurol 1996 0.88
80 Cellular distribution of HLA-G mRNA in transgenic mouse placentas. J Immunol 1993 0.88
81 Progress in pathogenesis studies of spinocerebellar ataxia type 1. Philos Trans R Soc Lond B Biol Sci 1999 0.87
82 Molecular analysis of the variant alloantigen HLA-B27d (HLA-B*2703) identifies a unique single amino acid substitution. Hum Immunol 1988 0.86
83 Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene (SCA1) in a yeast artificial chromosome contig spanning 1.2 Mb. Genomics 1993 0.86
84 Reduction of Purkinje cell pathology in SCA1 transgenic mice by p53 deletion. Neurobiol Dis 2001 0.86
85 Use of DNA probes from the 5' flanking region of the HLA-B gene to examine polymorphism at the HLA-B locus. Hum Immunol 1986 0.86
86 Spinocerebellar ataxia type 1--modeling the pathogenesis of a polyglutamine neurodegenerative disorder in transgenic mice. J Neuropathol Exp Neurol 2000 0.86
87 Isolation, characterization and in vivo analysis of the murine calbindin-D28K upstream regulatory region. Brain Res Mol Brain Res 1996 0.85
88 Maternal/fetal interactions: the role of the MHC class I molecule HLA-G. Crit Rev Immunol 1993 0.85
89 RNA targets of the fragile X protein. Cell 2001 0.85
90 Comparison of multiple HLA-A alleles at the DNA level by using Southern blotting and HLA-A-specific probes. J Immunol 1985 0.84
91 Linkage of an Alzheimer disease susceptibility locus to markers on human chromosome 21. Am J Med Genet 1991 0.83
92 Structure, function, and biosynthesis of the major human histocompatibility antigens (HLA-A and HLA-B). Scand J Immunol 1980 0.83
93 Restriction fragment length polymorphisms as markers of engraftment in allogeneic marrow transplantation. Blood 1985 0.82
94 Diversity of class I HLA molecules: functional and evolutionary interactions with T cells. Cold Spring Harb Symp Quant Biol 1989 0.82
95 Protocol for genetic testing in Huntington disease: three years of experience in Minnesota. Am J Med Genet 1991 0.81
96 The transcription factor E2F-1 in SV40 T antigen-induced cerebellar Purkinje cell degeneration. Mol Cell Neurosci 1998 0.81
97 Molecular and endocrine characterization of a mutation involving a recombination between the steroid 21-hydroxylase functional gene and pseudogene. J Steroid Biochem Mol Biol 1991 0.81
98 Measurement of cyclic nucleotides in histologically defined samples of brain and retina. Anal Biochem 1977 0.81
99 HLA-J, a second inactivated class I HLA gene related to HLA-G and HLA-A. Implications for the evolution of the HLA-A-related genes. J Immunol 1992 0.81
100 HLA-G transgenic mice: a model for studying expression and function at the maternal/fetal interface. Immunol Rev 1995 0.81
101 Failure to detect human cytomegalovirus DNA in IgM-seropositive blood donors by spot hybridization. J Infect Dis 1987 0.80
102 A polymorphic DNA probe, p1-10-2, from chromosome 6. Nucleic Acids Res 1990 0.80
103 Structural aspects of the products of the human major histocompatibility complex. Transplant Proc 1977 0.80
104 An evaluation of the significance of amino acid sequence homologies in human histocompatibility antigens (HLA-A and HLA-B) with immunoglobulins and other proteins, using relatively short sequences. Scand J Immunol 1980 0.80
105 Comparison of enzymatic activity with evidence of engraftment in patients with inborn errors of metabolism receiving allogeneic marrow transplantation. Birth Defects Orig Artic Ser 1986 0.80
106 Successful donor cell engraftment in a recipient of bone marrow from a cadaveric donor. Blood 1986 0.79
107 Susceptibility to cell death induced by mutant SV40 T-antigen correlates with Purkinje neuron functional development. Mol Cell Neurosci 1997 0.79
108 The levels of free taurine, glutamate, glycine and gamma-amino butyric acid during the postnatal development of the normal and dystrophic retina of the mouse. Exp Eye Res 1976 0.79
109 Mouse models of human CAG repeat disorders. Brain Pathol 1997 0.78
110 Regulation of HLA class I transcription in T cells. J Immunol 1989 0.78
111 Diagnosis of classical steroid 21-hydroxylase deficiency using an HLA-B locus-specific DNA-probe. Am J Med Genet 1988 0.77
112 A physical linkage map of HLA-A, -G, -7.5p, and -F. Hum Immunol 1991 0.77
113 Cytotoxic T lymphocyte recognition of HLA-G in mice. Hum Immunol 1997 0.77
114 Temporal and spatial expression of HLA-G messenger RNA in extraembryonic tissues of transgenic mice. J Immunol 1995 0.76
115 The c-fos gene and early-onset familial Alzheimer's disease. Neurosci Lett 1993 0.76
116 Sequence of a murine cDNA, pcp-4, that encodes the homolog of the rat brain-specific antigen PEP-19. Nucleic Acids Res 1990 0.75
117 Synthetic activity of corneal endothelium. Isr J Med Sci 1973 0.75
118 Frequency of the delta Phe508 mutation and correlation with XV.2c/KM-19 haplotypes in an American population of cystic fibrosis patients: results of a collaborative study. Clin Chem 1990 0.75
119 Pathogenesis of polyglutamine-induced disease: A model for SCA1. Mol Genet Metab 1999 0.75
120 Complete primary structure of human histocompatibility antigen HLA-B7: evolutionary and functional implications. Curr Top Dev Biol 1980 0.75
121 Linkage studies in dominantly inherited ataxias. Adv Neurol 1993 0.75