Published in Cell on September 01, 1978
Polymorphism of DNA sequence adjacent to human beta-globin structural gene: relationship to sickle mutation. Proc Natl Acad Sci U S A (1978) 16.54
Rapid and sensitive colorimetric method for visualizing biotin-labeled DNA probes hybridized to DNA or RNA immobilized on nitrocellulose: Bio-blots. Proc Natl Acad Sci U S A (1983) 12.81
Isolation and partial nucleotide sequence of a cDNA clone for human histocompatibility antigen HLA-B by use of an oligodeoxynucleotide primer. Proc Natl Acad Sci U S A (1981) 6.03
Isolation and localization of DNA segments from specific human chromosomes. Proc Natl Acad Sci U S A (1980) 5.76
Restriction endonuclease mapping of the human gamma globin gene loci. Nucleic Acids Res (1979) 4.55
RNA polymerase III transcriptional units are interspersed among human non-alpha-globin genes. Proc Natl Acad Sci U S A (1979) 3.78
Physical map of the seven ribosomal RNA genes of Escherichia coli. Nucleic Acids Res (1979) 3.60
The duplicated human alpha globin genes lie close together in cellular DNA. Proc Natl Acad Sci U S A (1978) 3.33
Precise localization of human beta-globin gene complex on chromosome 11. Proc Natl Acad Sci U S A (1979) 3.05
Cloning a cDNA for the pro-alpha 2 chain of human type I collagen. Proc Natl Acad Sci U S A (1981) 2.97
Direct identification of sickle cell anemia by blot hybridization. Proc Natl Acad Sci U S A (1981) 2.68
Triplicated alpha-globin loci in humans. Proc Natl Acad Sci U S A (1980) 2.61
Base substitution in an intervening sequence of a beta+-thalassemic human globin gene. Proc Natl Acad Sci U S A (1981) 2.58
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest (1983) 2.50
Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J Clin Invest (1980) 2.38
Cloning and characterization of DNA sequences surrounding the human gamma-, delta-, and beta-globin genes. Proc Natl Acad Sci U S A (1980) 2.04
Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci U S A (1979) 1.94
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia. Proc Natl Acad Sci U S A (1981) 1.93
Processing of human beta-globin mRNA precursor to mRNA is defective in three patients with beta+-thalassemia. Proc Natl Acad Sci U S A (1980) 1.72
Assignment of human beta-, gamma-, and delta-globin genes to the short arm of chromosome 11 by chromosome sorting and DNA restriction enzyme analysis. Proc Natl Acad Sci U S A (1979) 1.67
Coding capacity of complementary DNA strands. Nucleic Acids Res (1981) 1.58
The structure of the human beta-globin gene in beta-thalassaemia. Nucleic Acids Res (1979) 1.46
Multiple arrangements of the human embryonic zeta globin genes. Nucleic Acids Res (1982) 1.45
A DNA-binding factor in adult hematopoietic cells interacts with a pyrimidine-rich domain upstream from the human delta-globin gene. Proc Natl Acad Sci U S A (1991) 1.32
DNase I hypersensitivity in the gamma globin gene locus of K562 cells. Nucleic Acids Res (1983) 1.27
Heterogeneity of DNA fragments associated with the sickle-globin gene. J Clin Invest (1979) 1.27
Activation of human beta-globin genes from nonerythroid cells by fusion with murine erythroleukemia cells. Proc Natl Acad Sci U S A (1980) 1.26
Two cloned beta thalassemia genes are associated with amber mutations at codon 39. Nucleic Acids Res (1981) 1.14
Cloning of double stranded DNAs derived from polysomal mRNA of maize endosperm: isolation and characterisation of zein clones. Nucleic Acids Res (1979) 1.13
Cloning and direct examination of a structurally abnormal human beta 0-thalassemia globin gene. Proc Natl Acad Sci U S A (1980) 1.11
Activation of phenotypic expression of human globin genes from nonerythroid cells by chromosome-dependent transfer to tetraploid mouse erythroleukemia cells. Proc Natl Acad Sci U S A (1979) 1.10
Sickle gene. Its origin and diffusion from West Africa. J Clin Invest (1981) 1.06
Localization of the site of recombination in formation of the Lepore Boston globin gene. J Clin Invest (1981) 0.97
A molecular hybrid of the H-2Dd and H-2Ld genes expressed in the dm1 mutant. Proc Natl Acad Sci U S A (1984) 0.95
Stable transfer and expression of exogenous human globin genes in human erythroleukemia (K562) cells. Proc Natl Acad Sci U S A (1984) 0.95
Defects in DNA and globin messenger RNA in homozygotes for hemoglobin Lepore. J Clin Invest (1979) 0.92
Delta beta (F)-thalassaemia in Sardinia. J Med Genet (1982) 0.90
beta-Thalassemia present in cis to a new beta-chain structural variant, Hb Vicksburg [beta 75 (E19)Leu leads to 0]. Proc Natl Acad Sci U S A (1981) 0.89
Rat growth hormone gene: intervening sequences separate the mRNA regions. Nucleic Acids Res (1979) 0.77
Thalassemic hemoglobinopathies. Am J Pathol (1983) 0.76
Long-term outcome of medical and surgical therapies for gastroesophageal reflux disease: follow-up of a randomized controlled trial. JAMA (2001) 8.40
A safe packaging line for gene transfer: separating viral genes on two different plasmids. J Virol (1988) 7.87
Changes in restricted human cellular DNA fragments containing globin gene sequences in thalassemias and related disorders. Proc Natl Acad Sci U S A (1978) 6.46
Construction and use of a safe and efficient amphotropic packaging cell line. Virology (1988) 5.58
Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature (1991) 4.77
A fibrillar collagen gene, Col11a1, is essential for skeletal morphogenesis. Cell (1995) 3.59
Cloning and characterization of five overlapping cDNAs specific for the human pro alpha 1(I) collagen chain. Nucleic Acids Res (1982) 3.40
In vitro synthesis of DNA components of human genes for globins. Nat New Biol (1972) 3.23
Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet (1997) 2.98
Cloning a cDNA for the pro-alpha 2 chain of human type I collagen. Proc Natl Acad Sci U S A (1981) 2.97
Evidence for the multicentric origin of the sickle cell hemoglobin gene in Africa. Proc Natl Acad Sci U S A (1984) 2.86
Pathogenetic sequence for aneurysm revealed in mice underexpressing fibrillin-1. Proc Natl Acad Sci U S A (1999) 2.80
Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature (1983) 2.73
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science (1989) 2.67
Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest (1983) 2.50
Increased efficiency of exogenous messenger RNA translation in a Krebs ascites cell lysate. Proc Natl Acad Sci U S A (1972) 2.49
The molecular genetics of Marfan syndrome and related disorders. J Med Genet (2006) 2.45
Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene. Nucleic Acids Res (1985) 2.42
Nucleotide sequences of complementary deoxyribonucleic acids for the pro alpha 1 chain of human type I procollagen. Statistical evaluation of structures that are conserved during evolution. Biochemistry (1983) 2.42
Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene. Biochemistry (1983) 2.41
Regulation of limb patterning by extracellular microfibrils. J Cell Biol (2001) 2.37
A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med (1994) 2.29
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res (2001) 2.22
Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts. J Biol Chem (1983) 2.18
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet (1993) 2.16
Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet (1985) 2.14
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol (1995) 2.11
Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene. J Biol Chem (1985) 2.09
Efficient retrovirus-mediated transfer of the multidrug resistance 1 gene into autologous human long-term repopulating hematopoietic stem cells. Nat Med (2000) 2.09
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J Biol Chem (1989) 2.09
Decreased globin messenger RNA in thalassemia detected by molecular hybridization. Proc Natl Acad Sci U S A (1973) 2.07
Amputation and adriamycin in primary osteosarcoma. N Engl J Med (1974) 2.04
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol (1994) 2.03
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet (1995) 2.01
Erythroid cell differentiation: murine erythroleukemia cell variant with unique pattern of induction by polar compounds. Proc Natl Acad Sci U S A (1976) 1.99
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
An ikaros-containing chromatin-remodeling complex in adult-type erythroid cells. Mol Cell Biol (2000) 1.97
Relative numbers of human globin genes assayed with purified alpha and beta complementary human DNA. Proc Natl Acad Sci U S A (1975) 1.97
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. Nature (1984) 1.97
Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia. Nature (1976) 1.96
A nucleotide change at a splice junction in the human beta-globin gene is associated with beta 0-thalassemia. Proc Natl Acad Sci U S A (1981) 1.93
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly. Nat Genet (1995) 1.83
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem (1988) 1.83
Hemoglobin biosynthesis in murine virus-induced leukemic cells in vitro: structure and amounts of globin chains produced. Blood (1972) 1.81
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts. J Biol Chem (1985) 1.72
Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1) Gene (1988) 1.72
Treatment of acute myelocytic leukemia: a study by cancer and leukemia group B. Blood (1981) 1.68
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J Biol Chem (1985) 1.67
Globin composition and synthesis of hemoglobins in developing fetal mice erythroid cells. Science (1967) 1.66
Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet (1984) 1.62
Disorders of human hemoglobin. Science (1980) 1.60
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet (1995) 1.57
Transforming growth factor-beta stimulates alpha 2(I) collagen gene expression through a cis-acting element that contains an Sp1-binding site. J Biol Chem (1994) 1.57
Heterogeneity of genomic fusion of BCR and ABL in Philadelphia chromosome-positive acute lymphoblastic leukemia. Proc Natl Acad Sci U S A (1988) 1.56
Accumulation of alpha- and beta-globin messenger RNAs in mouse erythroleukemia cells. Cell (1977) 1.54
Tissue-specific and developmental stage-specific DNA binding by a mammalian SWI/SNF complex associated with human fetal-to-adult globin gene switching. Proc Natl Acad Sci U S A (1999) 1.53
Synergistic cooperation between Sp1 and Smad3/Smad4 mediates transforming growth factor beta1 stimulation of alpha 2(I)-collagen (COL1A2) transcription. J Biol Chem (2000) 1.52
DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription. J Biol Chem (1987) 1.51
Developmental expression of the mouse gene coding for the Krüppel-like transcription factor KLF5. Dev Dyn (2000) 1.50
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1990) 1.47
Cell-type specific recognition of RGD- and non-RGD-containing cell binding domains in fibrillin-1. J Biol Chem (1996) 1.42
Absolute rates of globin chain synthesis in thalassemia. Blood (1968) 1.40
Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. J Biol Chem (1989) 1.40
Reversibility of IVS 2 missplicing in a mutant human beta-globin gene. J Biol Chem (1985) 1.40
Takayasu's arteritis identified by computerized tomography: revealing the submerged portion of the iceberg? Isr Med Assoc J (1999) 1.38
Globin messenger RNA activity in erythroid precursor cells and the effect of erythropoietin. Proc Natl Acad Sci U S A (1972) 1.37
Functional analysis of cis-acting DNA sequences controlling transcription of the human type I collagen genes. J Biol Chem (1990) 1.36
Protein synthesis in a cell free human reticulocyte system: ribosome function in thalassemia. J Clin Invest (1966) 1.35
Abnormal splice in a mutant human beta-globin gene not at the site of a mutation. Proc Natl Acad Sci U S A (1983) 1.34
Early stimulation of RNA synthesis by erythropoietin in cultures of erythroid precursor cells. Proc Natl Acad Sci U S A (1973) 1.33
Isolation and characterization of cloned DNA: the delta and beta globin genes in homozygous beta + thalassemia. Blood (1981) 1.33
Organization of the exons coding for pro alpha 1(II) collagen N-propeptide confirms a distinct evolutionary history of this domain of the fibrillar collagen genes. Genomics (1989) 1.32
Changes in globin messenger RNA content during erythroid cell differentiation. J Biol Chem (1975) 1.32
A DNA-binding factor in adult hematopoietic cells interacts with a pyrimidine-rich domain upstream from the human delta-globin gene. Proc Natl Acad Sci U S A (1991) 1.32
Nucleotide sequence analysis of RNA synthesized from rabbit globin complementary DNA. Proc Natl Acad Sci U S A (1974) 1.31
New insights into the assembly of extracellular microfibrils from the analysis of the fibrillin 1 mutation in the tight skin mouse. J Cell Biol (2000) 1.30
Use of molecular haplotypes specific for the human pro alpha 2(I) collagen gene in linkage analysis of the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet (1986) 1.29
Globin synthesis of intact cells and activity of isolated mRNA in -thalassaemia. Nat New Biol (1973) 1.29
Conservation of globin messenger RNA in rabbit reticulocyte monoribosomes after sodium fluoride treatment. Biochem Biophys Res Commun (1972) 1.27
Cloning and sequencing of pro-alpha 1 (XI) collagen cDNA demonstrates that type XI belongs to the fibrillar class of collagens and reveals that the expression of the gene is not restricted to cartilagenous tissue. J Biol Chem (1988) 1.27
DNase I hypersensitivity in the gamma globin gene locus of K562 cells. Nucleic Acids Res (1983) 1.27
G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1991) 1.27
Heterogeneity of DNA fragments associated with the sickle-globin gene. J Clin Invest (1979) 1.27