Published in Proc Natl Acad Sci U S A on December 01, 1990
Erythroid cell-specific mRNA stability elements in the alpha 2-globin 3' nontranslated region. Mol Cell Biol (1995) 2.04
Characterization of the major regulatory element upstream of the human alpha-globin gene cluster. Mol Cell Biol (1991) 1.97
Analysis of the human alpha-globin gene cluster in transgenic mice. Proc Natl Acad Sci U S A (1993) 1.25
Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments. EMBO J (1995) 1.23
Analysis of a 70 kb segment of DNA containing the human zeta and alpha-globin genes linked to their regulatory element (HS-40) in transgenic mice. Nucleic Acids Res (1994) 1.12
Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice. EMBO J (1992) 1.09
A globin enhancer acts by increasing the proportion of erythrocytes expressing a linked transgene. Mol Cell Biol (1997) 1.05
The molecular basis of α-thalassemia. Cold Spring Harb Perspect Med (2013) 0.92
Analysis of enhancer function of the HS-40 core sequence of the human alpha-globin cluster. Nucleic Acids Res (1997) 0.85
Synergistic up-regulation of muscle LIM protein expression in C2C12 and NIH3T3 cells by myogenin and MEF2C. Mol Genet Genomics (2008) 0.79
Oligonucleotide-directed mutagenesis of DNA fragments cloned into M13 vectors. Methods Enzymol (1983) 17.47
Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell (1987) 15.79
The "beta-like-globin" gene domain in human erythroid cells. Proc Natl Acad Sci U S A (1985) 8.35
Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res (1987) 5.46
Differences in human alpha- and beta-globin gene expression in mouse erythroleukemia cells: the role of intragenic sequences. Cell (1984) 5.12
A single erythroid-specific DNase I super-hypersensitive site activates high levels of human beta-globin gene expression in transgenic mice. Genes Dev (1989) 4.60
Human fetal to adult hemoglobin switching: changes in chromatin structure of the beta-globin gene locus. Proc Natl Acad Sci U S A (1983) 4.05
Two 3' sequences direct adult erythroid-specific expression of human beta-globin genes in transgenic mice. Proc Natl Acad Sci U S A (1987) 3.81
A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev (1990) 3.31
Molecular basis of length polymorphism in the human zeta-globin gene complex. Proc Natl Acad Sci U S A (1983) 3.27
Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell (1987) 3.21
Molecular analysis of the human beta-globin locus activation region. Proc Natl Acad Sci U S A (1989) 3.17
Homology and concerted evolution at the alpha 1 and alpha 2 loci of human alpha-globin. Nature (1981) 2.97
Human beta-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site. Proc Natl Acad Sci U S A (1989) 2.92
A review of the molecular genetics of the human alpha-globin gene cluster. Blood (1989) 2.84
Highly variable regions of DNA flank the human alpha globin genes. Nucleic Acids Res (1981) 2.83
Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia. Nature (1984) 2.83
Gamma delta beta-thalassemia due to a de novo mutation deleting the 5' beta-globin gene activation-region hypersensitive sites. Proc Natl Acad Sci U S A (1989) 2.82
Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J (1986) 2.77
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature (1990) 2.58
Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet (1989) 2.28
Regulated expression of the human beta-globin gene family in murine erythroleukaemia cells. Nature (1983) 2.16
A 3' enhancer contributes to the stage-specific expression of the human beta-globin gene. Genes Dev (1987) 1.91
A distant gene deletion affects beta-globin gene function in an atypical gamma delta beta-thalassemia. J Clin Invest (1985) 1.85
High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human hemoglobin in murine erythrocytes. Genes Dev (1989) 1.63
A new hypervariable marker for the human alpha-globin gene cluster. Am J Hum Genet (1988) 1.43
The duplicated human alpha-globin genes: their relative expression as measured by RNA analysis. Cell (1981) 1.36
A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. Genomics (1990) 1.28
Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human alpha globin gene cluster. Blood (1990) 1.09
alpha-Thalassemia caused by an unstable alpha-globin mutant. J Clin Invest (1983) 1.03
Human alpha-globin gene expression. The dominant role of the alpha 2-locus in mRNA and protein synthesis. J Biol Chem (1986) 1.02
Alpha thalassemia. Hemoglobin (1989) 1.00
Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion. J Clin Invest (1985) 1.00
Isolation and mapping of a polymorphic DNA sequence (pEKMDA2-I) on chromosome 16 [D16S83]. Nucleic Acids Res (1988) 0.96
Locus assignment of alpha-globin structural mutations by hybrid-selected translation. J Clin Invest (1985) 0.93
An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype. J Clin Invest (1987) 0.88
Heterogeneity of the alpha-globin gene defects in German alpha-thalassemia affected families. Hum Genet (1985) 0.77
A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature (1985) 7.34
Alpha-thalassaemia caused by a polyadenylation signal mutation. Nature (1984) 4.41
Avian tumor virus RNA: a comparison of three sarcoma viruses and their transformation-defective derivatives by oligonucleotide fingerprinting and DNA-RNA hybridization. Proc Natl Acad Sci U S A (1973) 3.46
Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood (2000) 3.36
A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev (1990) 3.31
Molecular basis of length polymorphism in the human zeta-globin gene complex. Proc Natl Acad Sci U S A (1983) 3.27
Mutations in ATRX, encoding a SWI/SNF-like protein, cause diverse changes in the pattern of DNA methylation. Nat Genet (2000) 3.24
Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell (1987) 3.21
Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha-thalassemia (ATR-X syndrome). Cell (1995) 3.09
Non-methylated CpG-rich islands at the human alpha-globin locus: implications for evolution of the alpha-globin pseudogene. EMBO J (1987) 2.84
Highly variable regions of DNA flank the human alpha globin genes. Nucleic Acids Res (1981) 2.83
Molecular characterisation of a hypervariable region downstream of the human alpha-globin gene cluster. EMBO J (1986) 2.77
A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature (1990) 2.58
The interaction of alpha-thalassemia and homozygous sickle-cell disease. N Engl J Med (1982) 2.52
The relationship between chromosome structure and function at a human telomeric region. Nat Genet (1997) 2.48
Comparative genome analysis delimits a chromosomal domain and identifies key regulatory elements in the alpha globin cluster. Hum Mol Genet (2001) 2.46
Embryonic erythroid differentiation in the human leukemic cell line K562. Proc Natl Acad Sci U S A (1981) 2.42
Hemoglobin H disease and mental retardation: a new syndrome or a remarkable coincidence? N Engl J Med (1981) 2.35
Detection of breakpoints in submicroscopic chromosomal translocation, illustrating an important mechanism for genetic disease. Lancet (1989) 2.28
Direct cloning of specific genomic DNA sequences in plasmid libraries following fragment enrichment. Nucleic Acids Res (1985) 2.27
Analysis of the human alpha-globin gene cluster reveals a highly informative genetic locus. Proc Natl Acad Sci U S A (1986) 2.26
Localization of a putative transcriptional regulator (ATRX) at pericentromeric heterochromatin and the short arms of acrocentric chromosomes. Proc Natl Acad Sci U S A (1999) 2.24
Substrate specificity of the dsRNA unwinding/modifying activity. EMBO J (1991) 2.18
Acute splenic sequestration in homozygous sickle cell disease: natural history and management. J Pediatr (1985) 2.02
Expression of alpha- and beta-globin genes occurs within different nuclear domains in haemopoietic cells. Nat Cell Biol (2001) 2.01
Haemoglobin gene frequencies in the Jamaican population: a study in 100,000 newborns. Br J Haematol (1986) 2.00
Complete cystic fibrosis transmembrane conductance regulator gene sequencing in patients with idiopathic chronic pancreatitis and controls. Gut (2005) 2.00
A novel alpha-globin gene arrangement in man. Nature (1980) 1.98
Nuclear scaffold attachment sites in the human globin gene complexes. EMBO J (1988) 1.97
Characterization of the major regulatory element upstream of the human alpha-globin gene cluster. Mol Cell Biol (1991) 1.97
Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin. Cell (1992) 1.92
ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome. Hum Mol Genet (1996) 1.91
Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain. Nat Genet (1997) 1.88
Stable length polymorphism of up to 260 kb at the tip of the short arm of human chromosome 16. Cell (1991) 1.87
Translationally associated helix-destabilizing activity in rabbit reticulocyte lysate. J Biol Chem (1984) 1.85
Gene deletions in alpha thalassemia prove that the 5' zeta locus is functional. Proc Natl Acad Sci U S A (1980) 1.80
Clinical features and molecular analysis of the alpha thalassemia/mental retardation syndromes. II. Cases without detectable abnormality of the alpha globin complex. Am J Hum Genet (1990) 1.76
X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis. Am J Hum Genet (1992) 1.72
Healing of broken human chromosomes by the addition of telomeric repeats. Am J Hum Genet (1994) 1.69
Molecular-clinical spectrum of the ATR-X syndrome. Am J Med Genet (2000) 1.68
In vivo footprinting of the human alpha-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction. Mol Cell Biol (1992) 1.61
A newly defined X linked mental retardation syndrome associated with alpha thalassaemia. J Med Genet (1991) 1.61
Alpha-thalassemia. Curr Top Hematol (1983) 1.60
Factor VIII gene inversions in severe hemophilia A: results of an international consortium study. Blood (1995) 1.59
Melanesians and Polynesians share a unique alpha-thalassemia mutation. Am J Hum Genet (1985) 1.58
Identification of a conserved erythroid specific domain of histone acetylation across the alpha-globin gene cluster. Proc Natl Acad Sci U S A (2001) 1.57
Sequence comparison of human and yeast telomeres identifies structurally distinct subtelomeric domains. Hum Mol Genet (1997) 1.57
Distinct oligonucleotide patterns of distinct influenza virus RNA's. J Mol Biol (1972) 1.54
Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution. Nucleic Acids Res (1984) 1.54
Identification of a locus which shows no genetic recombination with the autosomal dominant polycystic kidney disease gene on chromosome 16. Am J Hum Genet (1990) 1.52
Terminal heterogeneity at both ends of the satellite tobacco necrosis virus ribonucleic acid. Biochemistry (1971) 1.48
De novo truncation of chromosome 16p and healing with (TTAGGG)n in the alpha-thalassemia/mental retardation syndrome (ATR-16). Am J Hum Genet (1993) 1.46
Multiple arrangements of the human embryonic zeta globin genes. Nucleic Acids Res (1982) 1.45
Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria. Nucleic Acids Res (1991) 1.44
A new hypervariable marker for the human alpha-globin gene cluster. Am J Hum Genet (1988) 1.43
Recombination within the human embryonic xi-globin locus: a common xi-xi chromosome produced by gene conversion of the psi xi gene. Cell (1985) 1.43
Strong preference for non-invasive prenatal diagnosis in women pregnant through intracytoplasmic sperm injection (ICSI) Prenat Diagn (1998) 1.41
[The Kallmann syndrome. Its pathophysiology and clinical picture]. Dtsch Med Wochenschr (1994) 1.39
Distinct spectrum of CFTR gene mutations in congenital absence of vas deferens. Hum Genet (1997) 1.38
Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy. Hum Mol Genet (2001) 1.37
The non-deletion type of alpha thalassaemia/mental retardation: a recognisable dysmorphic syndrome with X linked inheritance. J Med Genet (1991) 1.36
Phenylketonuria: detection of a frequent haplotype 4 allele mutation. Hum Genet (1989) 1.35
Sequence, structure and pathology of the fully annotated terminal 2 Mb of the short arm of human chromosome 16. Hum Mol Genet (2001) 1.32
Conservation of position and sequence of a novel, widely expressed gene containing the major human alpha-globin regulatory element. Genomics (1995) 1.31
Characteristic two-dimensional patterns of enzymatic digests of oncorna and other viral RNAs. Nat New Biol (1972) 1.31
The molecular basis of alpha-thalassaemia in Thailand. EMBO J (1984) 1.30
The pattern of replication at a human telomeric region (16p13.3): its relationship to chromosome structure and gene expression. Hum Mol Genet (1999) 1.29
A long-range restriction map between the alpha-globin complex and a marker closely linked to the polycystic kidney disease 1 (PKD1) locus. Genomics (1990) 1.28
alpha-Thalassemia reduces the hemolytic rate in homozygous sickle-cell disease. N Engl J Med (1983) 1.28
Analysis of the human alpha-globin gene cluster in transgenic mice. Proc Natl Acad Sci U S A (1993) 1.25
Extubation failure in a large pediatric ICU population. Chest (2001) 1.25
The influence of environmental and genetic factors on CYP2D6, CYP1A2 and UDP-glucuronosyltransferases in man using sparteine, caffeine, and paracetamol as probes. Pharmacogenetics (1994) 1.25
Phenylketonuria: distribution of DNA diagnostic patterns in German families. Hum Genet (1988) 1.24
Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments. EMBO J (1995) 1.23
Diagnosis of haploidy and triploidy based on measurement of gene copy number by real-time PCR. Hum Mutat (2000) 1.22
A nonsense mutation of the ATRX gene causing mild mental retardation and epilepsy. Ann Neurol (2000) 1.22
Localisation of human alpha globin to 16p13.3----pter. J Med Genet (1988) 1.22
Negro alpha-thalassaemia is caused by deletion of a single alpha-globin gene. Lancet (1979) 1.22
Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells. Hum Mol Genet (1994) 1.19
Expression of plasminogen activator inhibitor type 1 by human prostate carcinoma cells inhibits primary tumor growth, tumor-associated angiogenesis, and metastasis to lung and liver in an athymic mouse model. J Clin Invest (1995) 1.17
Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria. Genomics (1991) 1.17
Haemoglobin Constant Spring has an unstable alpha chain messenger RNA. Br J Haematol (1982) 1.17
Determination of alpha thalassaemia phenotypes by messenger RNA analysis. Br J Haematol (1980) 1.16
X linked alpha thalassaemia/mental retardation: spectrum of clinical features in three related males. J Med Genet (1991) 1.16
A new triplicated alpha-globin gene arrangement in man. Br J Haematol (1981) 1.16
High resolution gene mapping of the human alpha globin locus. J Med Genet (1987) 1.16
Long range genome structure around the human alpha-globin complex analysed by PFGE. Nucleic Acids Res (1987) 1.15
Glutathione S-transferase genetic polymorphisms and individual sensitivity to the ototoxic effect of cisplatin. Anticancer Drugs (2000) 1.15
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe. Genomics (1991) 1.15
Developmental silencing of the embryonic zeta-globin gene: concerted action of the promoter and the 3'-flanking region combined with stage-specific silencing by the transcribed segment. Mol Cell Biol (1996) 1.14
Structure of the human 3-methyladenine DNA glycosylase gene and localization close to the 16p telomere. Proc Natl Acad Sci U S A (1993) 1.13
Comparison of the human and murine ATRX gene identifies highly conserved, functionally important domains. Mamm Genome (1998) 1.13
Elucidation of the genetic basis of the common 'intermediate metabolizer' phenotype for drug oxidation by CYP2D6. Pharmacogenetics (2000) 1.13
Targeted inactivation of the major positive regulatory element (HS-40) of the human alpha-globin gene locus. Blood (1995) 1.12