Published in Am J Hum Genet on December 01, 1992
Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science (1989) 40.22
Identification of the cystic fibrosis gene: genetic analysis. Science (1989) 33.61
Identification of the cystic fibrosis gene: chromosome walking and jumping. Science (1989) 21.46
A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature (1990) 5.42
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene. Proc Natl Acad Sci U S A (1990) 4.74
Mutation analysis for heterozygote detection and the prenatal diagnosis of cystic fibrosis. N Engl J Med (1990) 4.60
The American Society of Human Genetics statement on cystic fibrosis screening. Am J Hum Genet (1990) 3.07
Three point mutations in the CFTR gene in French cystic fibrosis patients: identification by denaturing gradient gel electrophoresis. Hum Genet (1990) 2.05
Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Am J Hum Genet (1992) 1.85
A 3' splice site consensus sequence mutation in the cystic fibrosis gene. Hum Genet (1990) 1.67
A mutation in the second nucleotide binding fold of the cystic fibrosis gene. Am J Hum Genet (1991) 1.62
The search for south European cystic fibrosis mutations: identification of two new mutations, four variants, and intronic sequences. Genomics (1991) 1.51
Analysis of 14 cystic fibrosis mutations in five south European populations. Hum Genet (1991) 1.40
Structures of ternary complexes of rat DNA polymerase beta, a DNA template-primer, and ddCTP. Science (1994) 5.57
Loop and subdomain movements in the mechanism of Escherichia coli dihydrofolate reductase: crystallographic evidence. Biochemistry (1997) 5.46
Serine proteases: structure and mechanism of catalysis. Annu Rev Biochem (1977) 5.37
Crystal structure of a complex between electron transfer partners, cytochrome c peroxidase and cytochrome c. Science (1992) 4.82
Crystal structures of human DNA polymerase beta complexed with gapped and nicked DNA: evidence for an induced fit mechanism. Biochemistry (1997) 4.55
Complex formation between RAS and RAF and other protein kinases. Proc Natl Acad Sci U S A (1993) 4.30
Crystal structure of rat DNA polymerase beta: evidence for a common polymerase mechanism. Science (1994) 4.11
Psychological factors that predict AIDS high-risk versus AIDS precautionary behavior. J Consult Clin Psychol (1990) 4.04
Structure of subtilisin BPN' at 2.5 angström resolution. Nature (1969) 3.98
Crystal structures of Escherichia coli and Lactobacillus casei dihydrofolate reductase refined at 1.7 A resolution. I. General features and binding of methotrexate. J Biol Chem (1982) 3.84
The intestinal epithelial stem cell: the mucosal governor. Int J Exp Pathol (1997) 3.32
The 2.6-A crystal structure of Pseudomonas putida cytochrome P-450. J Biol Chem (1985) 2.95
Dihydrofolate reductase: x-ray structure of the binary complex with methotrexate. Science (1977) 2.88
Decontamination of instruments and control of cross infection in general practice. BMJ (1990) 2.82
Crystal structure of yeast cytochrome c peroxidase refined at 1.7-A resolution. J Biol Chem (1984) 2.56
Low-resolution electron-density and anomalous-scattering-density maps of Chromatium high-potential iron protein. J Mol Biol (1968) 2.46
Crystal structure of avian dihydrofolate reductase containing phenyltriazine and NADPH. J Biol Chem (1982) 2.45
The stereochemistry of peroxidase catalysis. J Biol Chem (1980) 2.35
Domestic violence and children: prevalence and risk in five major U.S. cities. J Am Acad Child Adolesc Psychiatry (1997) 2.29
Crystal structures of human DNA polymerase beta complexed with DNA: implications for catalytic mechanism, processivity, and fidelity. Biochemistry (1996) 2.25
Chymotrypsinogen: 2.5-angstrom crystal structure, comparison with alpha-chymotrypsin, and implications for zymogen activation. Biochemistry (1970) 2.23
Isolation of MEK5 and differential expression of alternatively spliced forms. J Biol Chem (1995) 2.23
Subtilisin; a stereochemical mechanism involving transition-state stabilization. Biochemistry (1972) 2.13
Functional homology of protein kinases required for sexual differentiation in Schizosaccharomyces pombe and Saccharomyces cerevisiae suggests a conserved signal transduction module in eukaryotic organisms. Mol Biol Cell (1993) 2.09
British HIV Association guidelines for the routine investigation and monitoring of adult HIV-1-infected individuals 2011. HIV Med (2012) 2.05
Actions of Rho family small G proteins and p21-activated protein kinases on mitogen-activated protein kinase family members. Mol Cell Biol (1996) 2.00
Effect of rest interval on tumor and normal tissue response--a report of phase III study of accelerated split course palliative radiation for advanced pelvic malignancies (RTOG-8502) Int J Radiat Oncol Biol Phys (1993) 1.96
Dihydrofolate reductase from Lactobacillus casei. X-ray structure of the enzyme methotrexate.NADPH complex. J Biol Chem (1978) 1.94
Variation in the interleukin 4-receptor alpha gene confers susceptibility to asthma and atopy in ethnically diverse populations. Am J Hum Genet (2000) 1.94
A comparison of Fe 4 S 4 clusters in high-potential iron protein and in ferredoxin. Proc Natl Acad Sci U S A (1972) 1.93
Directed mutagenesis of dihydrofolate reductase. Science (1983) 1.88
Evaluation of tests for infectious mononucleosis through proficiency testing. Health Lab Sci (1976) 1.88
Crystal structure of unliganded Escherichia coli dihydrofolate reductase. Ligand-induced conformational changes and cooperativity in binding. Biochemistry (1991) 1.86
Environmental pollutants and type 2 diabetes: a review of mechanisms that can disrupt beta cell function. Diabetologia (2011) 1.85
Enzyme-DNA interactions required for efficient nucleotide incorporation and discrimination in human DNA polymerase beta. J Biol Chem (1996) 1.85
X-ray crystallographic study of boronic acid adducts with subtilisin BPN' (Novo). A model for the catalytic transition state. J Biol Chem (1975) 1.82
Regulation and significance of apoptosis in the stem cells of the gastrointestinal epithelium. Stem Cells (1997) 1.78
The structure of oxidized cytochrome c 2 of Rhodospirillum rubrum. J Biol Chem (1973) 1.73
Retinal pigment epithelial tears. Patterns and prognosis. Ophthalmology (1988) 1.72
Crystal structures of Escherichia coli dihydrofolate reductase: the NADP+ holoenzyme and the folate.NADP+ ternary complex. Substrate binding and a model for the transition state. Biochemistry (1990) 1.71
Functional role of aspartic acid-27 in dihydrofolate reductase revealed by mutagenesis. Science (1986) 1.68
Structural and mutational analysis of the PhoQ histidine kinase catalytic domain. Insight into the reaction mechanism. J Biol Chem (2001) 1.67
Crystal structures of recombinant human dihydrofolate reductase complexed with folate and 5-deazafolate. Biochemistry (1990) 1.66
Refined crystal structures of Escherichia coli and chicken liver dihydrofolate reductase containing bound trimethoprim. J Biol Chem (1985) 1.62
Siderophore presence in sputa of cystic fibrosis patients. Infect Immun (1991) 1.61
Members of the Jagged/Notch gene families are expressed in injured arteries and regulate cell phenotype via alterations in cell matrix and cell-cell interaction. Am J Pathol (2001) 1.61
Crystal structures of Escherichia coli and Lactobacillus casei dihydrofolate reductase refined at 1.7 A resolution. II. Environment of bound NADPH and implications for catalysis. J Biol Chem (1982) 1.61
Detection by immunofluorescence of antibodies specific for human malignant melanoma cells. Cancer (1969) 1.60
Orbital rhabdomyosarcoma. An analysis of 62 cases. Am J Ophthalmol (1966) 1.60
Two-Angstrom crystal structure of oxidized Chromatium high potential iron protein. J Biol Chem (1974) 1.55
Decreased fecundability in Hutterite couples sharing HLA-DR. Am J Hum Genet (1992) 1.52
Severe botulism after focal injection of botulinum toxin. Neurology (2006) 1.51
Genomewide screen and identification of gene-gene interactions for asthma-susceptibility loci in three U.S. populations: collaborative study on the genetics of asthma. Am J Hum Genet (2001) 1.50
Cost reduction by combined carotid endarterectomy and coronary artery bypass grafting. J Thorac Cardiovasc Surg (1996) 1.50
Identification of potential CSF biomarkers in ALS. Neurology (2006) 1.50
Disruption of PF4/H multimolecular complex formation with a minimally anticoagulant heparin (ODSH). Thromb Haemost (2012) 1.45
Activation of mitogen-activated protein kinase cascades by p21-activated protein kinases in cell-free extracts of Xenopus oocytes. J Biol Chem (1995) 1.45
A structural basis for metal ion mutagenicity and nucleotide selectivity in human DNA polymerase beta. Biochemistry (1996) 1.45
A hypothetical model of the cytochrome c peroxidase . cytochrome c electron transfer complex. J Biol Chem (1980) 1.44
An x-ray crystallographic study of the binding of peptide chloromethyl ketone inhibitors to subtilisin BPN'. Biochemistry (1972) 1.44
Concerted action of RAS and G proteins in the sexual response pathways of Schizosaccharomyces pombe. Mol Cell Biol (1994) 1.42
Smoking initiation in the United States: a role for worksite and college smoking bans. J Natl Cancer Inst (1991) 1.41
A proposed model for interaction of polypeptides with RNA. Proc Natl Acad Sci U S A (1974) 1.39
Paradox of western epidemiology. Lancet (1995) 1.38
Atomic coordinates for subtilisin BPN' (or Novo). Biochem Biophys Res Commun (1971) 1.37
Structural bases for function in cytochromes c. An interpretation of comparative x-ray and biochemical data. J Biol Chem (1973) 1.36
The crystal structure of cytochrome c peroxidase. J Biol Chem (1980) 1.35
Negative regulation of mitosis in fission yeast by the shk1 interacting protein skb1 and its human homolog, Skb1Hs. Proc Natl Acad Sci U S A (1998) 1.32
Projection of individual pyramidal tract neurons to lumbar motor nuclei of the monkey. Exp Brain Res (1979) 1.30
Structure of the iron-sulfur cluster in the Chromatius iron protein at 2.25 Angstrom resolution. Cold Spring Harb Symp Quant Biol (1972) 1.30
Crystal structure of a novel trimethoprim-resistant dihydrofolate reductase specified in Escherichia coli by R-plasmid R67. Biochemistry (1986) 1.29
Retinal sensitivity over drusen and nondrusen areas. A study using fundus perimetry. Arch Ophthalmol (1988) 1.28
The highly conserved skb1 gene encodes a protein that interacts with Shk1, a fission yeast Ste20/PAK homolog. Proc Natl Acad Sci U S A (1996) 1.28
"How much do you get paid if I volunteer?" Suggested institutional policy on reward, consent, and research. Hosp Health Serv Adm (1994) 1.26
Choroidal blood flow in diabetic retinopathy. Exp Eye Res (1991) 1.25
Polypeptide halomethyl ketones bind to serine proteases as analogs of the tetrahedral intermediate. X-ray crystallographic comparison of lysine- and phenylalanine-polypeptide chloromethyl ketone-inhibited subtilisin. J Biol Chem (1976) 1.25
Effects of dark adaptation on spatial and temporal properties of receptive fields in cat lateral geniculate nucleus. J Physiol (1979) 1.21
An engineered disulfide bond in dihydrofolate reductase. Biochemistry (1987) 1.20
Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families. Hum Mutat (2008) 1.20
Determination by Raman spectroscopy of the pKa of N5 of dihydrofolate bound to dihydrofolate reductase: mechanistic implications. Biochemistry (1994) 1.18
Dihydrofolate reductase. The stereochemistry of inhibitor selectivity. J Biol Chem (1985) 1.17
What is apoptosis, and why is it important? BMJ (2001) 1.16
Dissociation and re-assembly of the endoplasmic reticulum in live cells. J Cell Sci (1988) 1.16
Association of soluble HLA-G plasma levels with HLA-G alleles. Tissue Antigens (2001) 1.15
Histidine 52 is a critical residue for rapid formation of cytochrome c peroxidase compound I. Biochemistry (1993) 1.15
Re-examination of the charge relay system in subtilisin comparison with other serine proteases. J Biol Chem (1977) 1.14
A hydrogen-bond network at the active site of subtilisin BPN'. Philos Trans R Soc Lond B Biol Sci (1970) 1.14
Comparison of oxidation-reduction site geometries in oxidized and reduced Chromatium high potential iron protein and oxidized Peptococcus aerogenes ferredoxin. J Biol Chem (1974) 1.14
Neovascularization in central retinal vein occlusion: electroretinographic findings. Arch Ophthalmol (1988) 1.12
The impact of nanobiotechnology on the development of new drug delivery systems. Curr Pharm Biotechnol (2005) 1.12
The role of radiation-induced and spontaneous apoptosis in the homeostasis of the gastrointestinal epithelium: a brief review. Comp Biochem Physiol B Biochem Mol Biol (1997) 1.11
X-ray structures of recombinant yeast cytochrome c peroxidase and three heme-cleft mutants prepared by site-directed mutagenesis. Biochemistry (1990) 1.10
Reconstitution of human urothelium from monolayer cultures. J Urol (1997) 1.10
Regulation of the p21-activated kinase (PAK) by a human Gbeta -like WD-repeat protein, hPIP1. Proc Natl Acad Sci U S A (2001) 1.09
Langer-Giedion syndrome: type II tricho-rhino-phalangeal dysplasia. J Pediatr (1977) 1.09
The aromatic substrate binding site in subtilisin BPN' and its resemblance to chymotrypsin. Cold Spring Harb Symp Quant Biol (1972) 1.08
Archives of contemporary medicine and science. BMJ (1991) 1.07
The highly conserved protein methyltransferase, Skb1, is a mediator of hyperosmotic stress response in the fission yeast Schizosaccharomyces pombe. J Biol Chem (2001) 1.07
Effects of a yoga breath intervention alone and in combination with an exposure therapy for post-traumatic stress disorder and depression in survivors of the 2004 South-East Asia tsunami. Acta Psychiatr Scand (2009) 1.06