Published in Gene on January 01, 1987
Different effects of intron nucleotide composition and secondary structure on pre-mRNA splicing in monocot and dicot plants. EMBO J (1991) 3.12
Plant intron sequences: evidence for distinct groups of introns. Nucleic Acids Res (1988) 2.42
Nuclear pre-mRNA processing in plants: distinct modes of 3'-splice-site selection in plants and animals. Mol Cell Biol (1988) 2.32
Nuclear pre-mRNA introns: analysis and comparison of intron sequences from Tetrahymena thermophila and other eukaryotes. Nucleic Acids Res (1990) 2.25
atSRp30, one of two SF2/ASF-like proteins from Arabidopsis thaliana, regulates splicing of specific plant genes. Genes Dev (1999) 1.82
The 5' splice site: phylogenetic evolution and variable geometry of association with U1RNA. Nucleic Acids Res (1989) 1.60
3' splice site selection in dicot plant nuclei is position dependent. Mol Cell Biol (1993) 1.49
Identification of a plant serine-arginine-rich protein similar to the mammalian splicing factor SF2/ASF. Proc Natl Acad Sci U S A (1995) 1.43
Pre-mRNA splicing in plants: characterization of Ser/Arg splicing factors. Proc Natl Acad Sci U S A (1996) 1.26
The plant U1 small nuclear ribonucleoprotein particle 70K protein interacts with two novel serine/arginine-rich proteins. Plant Cell (1998) 1.23
Structure and expression of a plant U1 snRNP 70K gene: alternative splicing of U1 snRNP 70K pre-mRNAs produces two different transcripts. Plant Cell (1996) 1.23
A plethora of plant serine/arginine-rich proteins: redundancy or evolution of novel gene functions? Biochem Soc Trans (2004) 1.17
A role for SR proteins in plant stress responses. Plant Signal Behav (2011) 1.08
Maize U2 snRNAs: gene sequence and expression. Nucleic Acids Res (1989) 1.06
Processing of chimeric introns in dicot plants: evidence for a close cooperation between 5' and 3' splice sites. Nucleic Acids Res (1992) 1.03
A functional splice site in the 5' untranslated region of a zein gene. Nucleic Acids Res (1990) 0.93
The AG dinucleotide terminating introns is important but not always required for pre-mRNA splicing in the maize endosperm Plant Physiol (1999) 0.92
In vivo analysis of plant pre-mRNA splicing using an autonomously replicating vector. Nucleic Acids Res (1991) 0.88
cDNA cloning of U1, U2, U4 and U5 snRNA families expressed in pea nuclei. Nucleic Acids Res (1991) 0.87
Sequence and expression of potato U2 snRNA genes. Nucleic Acids Res (1991) 0.87
Insertion of non-intron sequence into maize introns interferes with splicing. Nucleic Acids Res (1992) 0.85
A splice site mutant of maize activates cryptic splice sites, elicits intron inclusion and exon exclusion, and permits branch point elucidation. Plant Physiol (1999) 0.82
The molecular basis for alternative splicing of the CABP1 transcripts in Dictyostelium discoideum. Nucleic Acids Res (1990) 0.80
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The structure and evolution of the human beta-globin gene family. Cell (1980) 21.24
Complete nucleotide sequence of the human delta-globin gene. Cell (1980) 3.34
A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature (1993) 3.24
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A (1981) 2.58
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet (1996) 2.53
Positional cloning of a gene for Hermansky-Pudlak syndrome, a disorder of cytoplasmic organelles. Nat Genet (1996) 2.47
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
Nucleotide sequence of a bean (Phaseolus vulgaris) U1 small nuclear RNA gene: implications for plant pre-mRNA splicing. Proc Natl Acad Sci U S A (1987) 2.36
Direct, sequence-specific binding of the human U1-70K ribonucleoprotein antigen protein to loop I of U1 small nuclear RNA. Mol Cell Biol (1989) 2.29
Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med (1994) 1.98
Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism. Proc Natl Acad Sci U S A (1991) 1.81
Organization and nucleotide sequences of the human tyrosinase gene and a truncated tyrosinase-related segment. Genomics (1991) 1.81
Loop I of U1 small nuclear RNA is the only essential RNA sequence for binding of specific U1 small nuclear ribonucleoprotein particle proteins. Mol Cell Biol (1988) 1.77
RNA splice site selection: evidence for a 5' leads to 3' scanning model. Science (1983) 1.76
Mutation of PVRL1 is associated with sporadic, non-syndromic cleft lip/palate in northern Venezuela. Nat Genet (2001) 1.67
Duplication/deletion polymorphism 5' - to the human beta globin gene. Nucleic Acids Res (1981) 1.65
RFLP for MboI in the human tyrosinase (TYR) gene detected by PCR. Nucleic Acids Res (1990) 1.65
Organization and sequence of the human P gene and identification of a new family of transport proteins. Genomics (1995) 1.60
Site-directed mutagenesis using a double-stranded DNA fragment as a PCR primer. Nucleic Acids Res (1990) 1.54
Loss of expression of receptor tyrosine kinase family genes PTK7 and SEK in metastatic melanoma. Int J Cancer (1997) 1.53
A survey of protein tyrosine kinase mRNAs expressed in normal human melanocytes. Oncogene (1993) 1.43
Duplication followed by deletion accounts for the structure of an Indian deletion beta (0)-thalassemia gene. Nucleic Acids Res (1982) 1.31
The molecular basis of oculocutaneous albinism type 1 (OCA1): sorting failure and degradation of mutant tyrosinases results in a lack of pigmentation. Biochem J (2001) 1.30
Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences. J Invest Dermatol (1997) 1.29
Linkage disequilibrium mapping of the gene for Hermansky-Pudlak syndrome to chromosome 10q23.1-q23.3. Hum Mol Genet (1995) 1.26
mRNA precursor splicing in vivo: sequence requirements determined by deletion analysis of an intervening sequence. Proc Natl Acad Sci U S A (1985) 1.25
Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet (1997) 1.24
The thalassemias: molecular mechanisms of human genetic disease. Am J Hum Genet (1983) 1.21
Mouse pale ear (ep) is homologous to human Hermansky-Pudlak syndrome and contains a rare 'AT-AC' intron. Hum Mol Genet (1997) 1.21
A polymorphism of the human tyrosinase gene is associated with temperature-sensitive enzymatic activity. Gene Expr (1991) 1.21
Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet (1998) 1.20
Nucleotide sequences of two soybean U1 snRNA genes. Nucleic Acids Res (1988) 1.20
A tyrosinase gene missense mutation in temperature-sensitive type I oculocutaneous albinism. A human homologue to the Siamese cat and the Himalayan mouse. J Clin Invest (1991) 1.18
Mutational mapping of the catalytic activities of human tyrosinase. J Biol Chem (1992) 1.17
Simian virus 40 as a eukaryotic cloning vehicle. Annu Rev Genet (1981) 1.15
The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene. Genomics (2001) 1.15
Two cloned beta thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res (1981) 1.14
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism. Proc Natl Acad Sci U S A (1990) 1.14
In vitro splicing pathways of pre-mRNAs containing multiple intervening sequences? Mol Cell Biol (1987) 1.14
Alternative splicing of SV40 early pre-mRNA in vitro. Nucleic Acids Res (1986) 1.13
The two intervening sequences of human beta- and gamma-globin pre-mRNAs are excised in a preferred temporal order in vitro. EMBO J (1985) 1.09
Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet (1995) 1.08
The Hermansky-Pudlak syndrome (HPS) protein is part of a high molecular weight complex involved in biogenesis of early melanosomes. Hum Mol Genet (2000) 1.08
Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2). Hum Mol Genet (1994) 1.08
Tyrosinase gene mutations in type I (tyrosinase-deficient) oculocutaneous albinism define two clusters of missense substitutions. Am J Med Genet (1992) 1.06
Organization and nucleotide sequence of the human KIT (mast/stem cell growth factor receptor) proto-oncogene. Oncogene (1992) 1.04
Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene). Genomics (1993) 1.02
Organization and nucleotide sequence of the human Hermansky-Pudlak syndrome (HPS) gene. J Invest Dermatol (1997) 1.01
Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet (1994) 1.01
Temperature-sensitive tyrosinase associated with peripheral pigmentation in oculocutaneous albinism. J Clin Invest (1991) 1.00
Homozygosity mapping of the gene for Chediak-Higashi syndrome to chromosome 1q42-q44 in a segment of conserved synteny that includes the mouse beige locus (bg). Am J Hum Genet (1996) 0.97
Tyrosinase gene mutations associated with type IB ("yellow") oculocutaneous albinism. Am J Hum Genet (1991) 0.96
Mutations of the tyrosinase gene in Indo-Pakistani patients with type I (tyrosinase-deficient) oculocutaneous albinism (OCA). Am J Hum Genet (1993) 0.95
The human RD protein is closely related to nuclear RNA-binding proteins and has been highly conserved. Gene (1990) 0.94
Autosomal dominant hypohidrotic ectodermal dysplasia in a large family. Am J Med Genet (1997) 0.94
Neonatal death in cousins with trisomy 10q and monosomy 4p due to a familial translocation. Clin Genet (1982) 0.94
Mutations in the Chediak-Higashi syndrome gene (CHS1) indicate requirement for the complete 3801 amino acid CHS protein. Hum Mol Genet (1997) 0.93
A nonsense mutation in the tyrosinase gene of Afghan patients with tyrosinase negative (type IA) oculocutaneous albinism. J Med Genet (1991) 0.92
Cloning specific complete polyadenylylated 3'-terminal cDNA segments. Gene (1985) 0.91
Genomic organization and sequence of D12S53E (Pmel 17), the human homologue of the mouse silver (si) locus. J Invest Dermatol (1996) 0.90
Metal ligand-binding specificities of the tyrosinase-related proteins. Biochem Biophys Res Commun (1998) 0.85
Nucleotide sequence, evolution, and expression of the fetal globin gene of the spider monkey Ateles geoffroyi. Proc Natl Acad Sci U S A (1985) 0.84
Type I oculocutaneous albinism associated with a full-length deletion of the tyrosinase gene. J Invest Dermatol (1996) 0.84
PTK1, a novel protein kinase required for proliferation of human melanocytes. Oncogene (1994) 0.83
Linkage disequilibrium mapping of the gene for Margarita Island ectodermal dysplasia (ED4) to 11q23. Am J Hum Genet (1998) 0.83
Gene dosage effect: intraband mapping of human soluble glutamic oxaloacetic transaminase. Cytogenet Cell Genet (1979) 0.80
Prevalent and novel mutations of the tyrosinase gene in Korean patients with tyrosinase-deficient oculocutaneous albinism. Mol Cells (1997) 0.80
Duplication of 15q11.2-q14, including the P gene, in a woman with generalized skin hyperpigmentation. Am J Med Genet (2001) 0.78
The molecular basis of type I (tyrosinase-deficient) human oculocutaneous albinism. Pigment Cell Res (1992) 0.78
Normal dosage of the insulin and insulin-like growth factor II genes in patients with the Beckwith-Wiedemann syndrome. Am J Hum Genet (1986) 0.77
Deletion analysis of the human gamma-globin IVS2: sequence requirements for RNA splicing. Ann N Y Acad Sci (1985) 0.77
A study in scarlet. Nat Genet (1995) 0.77
The human TYRO3 gene and pseudogene are located in chromosome 15q14-q25. Gene (1993) 0.77
Lack of mutations of the MGF and KIT genes in Diamond-Blackfan anemia. Blood (1993) 0.76
I-cell disease: intracellular desialylation of lysosomal enzymes using an influenza virus vector. Biochim Biophys Acta (1979) 0.76
Familial radioulnar synostosis. J Med Genet (1978) 0.75
Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia. J Clin Invest (1984) 0.75
A gene for autosomal dominant hypohidrotic ectodermal dysplasia (EDA3) maps to chromosome 2q11-q13. Am J Hum Genet (1998) 0.75
HPS gene mutations in Hermansky-Pudlak syndrome. Am J Hum Genet (1999) 0.75
Three new mutations in a gene causing Hermansky-Pudlak syndrome. Mol Genet Metab (1998) 0.75
Characterization and evolutionary comparison of rat Hps cDNA and exclusion of red-eyed dilution (r) locus. Mamm Genome (2001) 0.75
The familial histiocytoses. Pediatr Pathol (1985) 0.75
Recognition of potential splice sites on the human G gamma-globin mRNA precursor. Prog Clin Biol Res (1983) 0.75
Lack of apparent hematologic abnormalities in human patients with c-kit (stem cell factor receptor) gene mutations. Blood (1992) 0.75
False-negative A.F.P. screen for congenital nephrosis Finnish type. Lancet (1978) 0.75
Globin mRNA metabolism and gene structure in beta +-thalassemia. Birth Defects Orig Artic Ser (1982) 0.75
DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A). Prenat Diagn (1995) 0.75