Point mutations characterize KEL10, the KEL3, KEL4, and KEL21 alleles, and the KEL17 and KEL11 alleles.

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Published in Transfusion on June 01, 1996

Authors

S Lee1, X Wu, S Son, D Naime, M Reid, Y Okubo, P Sistonen, C Redman

Author Affiliations

1: Lindsley F. Kimball Research Institute, New York Blood Center, New York, USA.

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CHARMM: the biomolecular simulation program. J Comput Chem (2009) 27.71

An STS-based map of the human genome. Science (1995) 17.72

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Clues to the pathogenesis of familial colorectal cancer. Science (1993) 14.52

A gene map of the human genome. Science (1996) 14.32

A physical map of 30,000 human genes. Science (1998) 12.43

Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell (1993) 9.93

Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science (1998) 7.08

Sensitivity of human immunodeficiency virus type 1 to the fusion inhibitor T-20 is modulated by coreceptor specificity defined by the V3 loop of gp120. J Virol (2000) 6.71

A comparison of low-risk pregnant women booked for delivery in two systems of care: shared-care (consultant) and integrated general practice unit. I. Obstetrical procedures and neonatal outcome. Br J Obstet Gynaecol (1983) 5.78

Allelic loss of chromosome 18q and prognosis in colorectal cancer. N Engl J Med (1994) 5.12

Activity of DNA ligase IV stimulated by complex formation with XRCC4 protein in mammalian cells. Nature (1997) 5.08

Inactivation of the tumor suppressor PTEN/MMAC1 in advanced human prostate cancer through loss of expression. Proc Natl Acad Sci U S A (1998) 4.40

Growth suppression by p18, a p16INK4/MTS1- and p14INK4B/MTS2-related CDK6 inhibitor, correlates with wild-type pRb function. Genes Dev (1994) 4.30

Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27

A comparison of low-risk pregnant women booked for delivery in two systems of care: shared-care (consultant) and integrated general practice unit. II. Labour and delivery management and neonatal outcome. Br J Obstet Gynaecol (1983) 4.22

Randomised, controlled trial of efficacy of midwife-managed care. Lancet (1996) 4.21

Genetic mapping of a locus predisposing to human colorectal cancer. Science (1993) 4.12

End-of-life decisions in neonatal intensive care: physicians' self-reported practices in seven European countries. EURONIC Study Group. Lancet (2000) 4.01

Chalcones: an update on cytotoxic and chemoprotective properties. Curr Med Chem (2005) 3.97

Genetic restriction of AIDS pathogenesis by an SDF-1 chemokine gene variant. ALIVE Study, Hemophilia Growth and Development Study (HGDS), Multicenter AIDS Cohort Study (MACS), Multicenter Hemophilia Cohort Study (MHCS), San Francisco City Cohort (SFCC) Science (1998) 3.86

Loss of function of a rice brassinosteroid insensitive1 homolog prevents internode elongation and bending of the lamina joint. Plant Cell (2000) 3.56

Screening reduces colorectal cancer rate in families with hereditary nonpolyposis colorectal cancer. Gastroenterology (1995) 3.45

The highly reduced genome of an enslaved algal nucleus. Nature (2001) 3.31

Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proc Natl Acad Sci U S A (2001) 3.31

DNA structure-dependent requirements for yeast RAD genes in gene conversion. Nature (1995) 3.15

Parental visiting, communication, and participation in ethical decisions: a comparison of neonatal unit policies in Europe. Arch Dis Child Fetal Neonatal Ed (1999) 3.14

Chemical etiology of nucleic acid structure: the alpha-threofuranosyl-(3'-->2') oligonucleotide system. Science (2000) 3.11

Prevalence of diabetes and impaired fasting glucose in the Chinese adult population: International Collaborative Study of Cardiovascular Disease in Asia (InterASIA). Diabetologia (2003) 3.00

Genes and languages in Europe: an analysis of mitochondrial lineages. Genome Res (1995) 2.93

Falciparum malaria parasites invade erythrocytes that lack glycophorin A and B (MkMk). Strain differences indicate receptor heterogeneity and two pathways for invasion. J Clin Invest (1987) 2.91

Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89

An innate view of human pregnancy. Immunol Today (1999) 2.87

Diagnosis of twin zygosity by mailed questionnaire. Hum Hered (1978) 2.85

Gingival sulcus bleeding--a leading symptom in initial gingivitis. Helv Odontol Acta (1971) 2.85

Longitudinal pattern of regional brain volume change differentiates normal aging from MCI. Neurology (2009) 2.84

mdm-2 inhibits the G1 arrest and apoptosis functions of the p53 tumor suppressor protein. Mol Cell Biol (1996) 2.78

Randomised controlled trial of routine cervical examinations in pregnancy. European Community Collaborative Study Group on Prenatal Screening. Lancet (1994) 2.74

Fluorescence resonance energy transfer from cyan to yellow fluorescent protein detected by acceptor photobleaching using confocal microscopy and a single laser. J Microsc (2003) 2.74

Processing of the notch ligand delta by the metalloprotease Kuzbanian. Science (1999) 2.71

Plasma levels of insulin-like growth factor-I and lung cancer risk: a case-control analysis. J Natl Cancer Inst (1999) 2.68

Glycophorin B as an EBA-175 independent Plasmodium falciparum receptor of human erythrocytes. Mol Biochem Parasitol (1994) 2.67

The antiinflammatory mechanism of methotrexate. Increased adenosine release at inflamed sites diminishes leukocyte accumulation in an in vivo model of inflammation. J Clin Invest (1993) 2.66

Sequestration and inhibition of Daxx-mediated transcriptional repression by PML. Mol Cell Biol (2000) 2.59

Different forms of TFIIH for transcription and DNA repair: holo-TFIIH and a nucleotide excision repairosome. Cell (1995) 2.58

Past adult lead exposure is linked to neurodegeneration measured by brain MRI. Neurology (2006) 2.52

Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46

CIDE, a novel family of cell death activators with homology to the 45 kDa subunit of the DNA fragmentation factor. EMBO J (1998) 2.44

Response of patients in phase II studies of chemotherapy in ovarian cancer: implications for patient treatment and the design of phase II trials. Br J Cancer (1989) 2.43

Modulation of nucleotide excision repair capacity by XPD polymorphisms in lung cancer patients. Cancer Res (2001) 2.37

Individual patient diagnosis of AD and FTD via high-dimensional pattern classification of MRI. Neuroimage (2008) 2.36

Epidemiological link between exposure to poultry and all influenza A(H7N9) confirmed cases in Huzhou city, China, March to May 2013. Euro Surveill (2013) 2.34

Vesicular stomatitis virus matrix protein inhibits host cell gene expression by targeting the nucleoporin Nup98. Mol Cell (2000) 2.33

Medical genetic services in 31 countries: an overview. Eur J Hum Genet (1997) 2.33

JNK targets p53 ubiquitination and degradation in nonstressed cells. Genes Dev (1998) 2.29

A natural BH3 mimetic induces autophagy in apoptosis-resistant prostate cancer via modulating Bcl-2-Beclin1 interaction at endoplasmic reticulum. Cell Death Differ (2010) 2.25

Error-free and error-prone lesion bypass by human DNA polymerase kappa in vitro. Nucleic Acids Res (2000) 2.25

The Vif protein of human and simian immunodeficiency viruses is packaged into virions and associates with viral core structures. J Virol (1995) 2.25

DNA repair synthesis during base excision repair in vitro is catalyzed by DNA polymerase epsilon and is influenced by DNA polymerases alpha and delta in Saccharomyces cerevisiae. Mol Cell Biol (1993) 2.23

Should euthanasia be legal? An international survey of neonatal intensive care units staff. Arch Dis Child Fetal Neonatal Ed (2004) 2.21

Treatment choices for extremely preterm infants: an international perspective. J Pediatr (2000) 2.19

Case-control study of the D2 dopamine receptor gene and smoking status in lung cancer patients. J Natl Cancer Inst (1998) 2.16

Astrocyte-specific expression of activated p21-ras results in malignant astrocytoma formation in a transgenic mouse model of human gliomas. Cancer Res (2001) 2.13

Function of hexameric RNA in packaging of bacteriophage phi 29 DNA in vitro. Mol Cell (1998) 2.13

Specificity of DNA lesion bypass by the yeast DNA polymerase eta. J Biol Chem (2000) 2.12

The human REV1 gene codes for a DNA template-dependent dCMP transferase. Nucleic Acids Res (1999) 2.10

Drug misusers in Lothian: changes in injecting habits 1988-90. BMJ (1993) 2.09

Preferential incorporation of G opposite template T by the low-fidelity human DNA polymerase iota. Mol Cell Biol (2000) 2.08

Error-prone lesion bypass by human DNA polymerase eta. Nucleic Acids Res (2000) 2.07

Hydrogen peroxide generated during cellular insulin stimulation is integral to activation of the distal insulin signaling cascade in 3T3-L1 adipocytes. J Biol Chem (2001) 2.06

Discovery of small-molecule inhibitors of Bcl-2 through structure-based computer screening. J Med Chem (2001) 2.06

The Dictyostelium CARMIL protein links capping protein and the Arp2/3 complex to type I myosins through their SH3 domains. J Cell Biol (2001) 2.05

The function of adipocytes in the bone marrow stroma: an update. Bone (1996) 2.01

Loss of presenilin 1 is associated with enhanced beta-catenin signaling and skin tumorigenesis. Proc Natl Acad Sci U S A (2001) 2.00

Cloning of two candidate tumor suppressor genes within a 10 kb region on chromosome 13q14, frequently deleted in chronic lymphocytic leukemia. Oncogene (1997) 1.97

Defective granule exocytosis in Rab27a-deficient lymphocytes from Ashen mice. J Cell Biol (2001) 1.95

Mdm2 association with p53 targets its ubiquitination. Oncogene (1998) 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

Transforming growth factor-β regulates the sphere-initiating stem cell-like feature in breast cancer through miRNA-181 and ATM. Oncogene (2010) 1.92

Iatrogenic rickets in low-birth-weight infants. J Pediatr (1971) 1.90

Peroxisome proliferator-activated receptor-gamma activation by thiazolidinediones induces adipogenesis in bone marrow stromal cells. Mol Pharmacol (1996) 1.90

Dictyostelium mutants lacking multiple classic myosin I isoforms reveal combinations of shared and distinct functions. J Cell Biol (1996) 1.89

The degradation of apolipoprotein B100 is mediated by the ubiquitin-proteasome pathway and involves heat shock protein 70. J Biol Chem (1997) 1.87

Peg3/Pw1 promotes p53-mediated apoptosis by inducing Bax translocation from cytosol to mitochondria. Proc Natl Acad Sci U S A (2000) 1.86

Hepatic cytochrome P450s metabolize aristolochic acid and reduce its kidney toxicity. Kidney Int (2008) 1.86

Transcription factor b (TFIIH) is required during nucleotide-excision repair in yeast. Nature (1994) 1.86

Adverse outcome of pregnancy and the quality of obstetric care. Lancet (1984) 1.84

Randomised clinical trial: an assessment of acupuncture on specific meridian or specific acupoint vs. sham acupuncture for treating functional dyspepsia. Aliment Pharmacol Ther (2012) 1.83

Nanometer size diesel exhaust particles are selectively toxic to dopaminergic neurons: the role of microglia, phagocytosis, and NADPH oxidase. FASEB J (2004) 1.79

Mutations and impaired function of LKB1 in familial and non-familial Peutz-Jeghers syndrome and a sporadic testicular cancer. Hum Mol Genet (1999) 1.79

Expression profiling suggested a regulatory role of liver-enriched transcription factors in human hepatocellular carcinoma. Cancer Res (2001) 1.78

Granulocyte/macrophage colony-stimulating factor and interleukin 3 release from human peripheral blood eosinophils and neutrophils. J Exp Med (1991) 1.77

Detailed molecular delineation of 13q14.3 loss in B-cell chronic lymphocytic leukemia. Blood (1998) 1.73

Centrosome maturation. Curr Top Dev Biol (2000) 1.72

Seasonal rainfall variability, the incidence of hemorrhagic fever with renal syndrome, and prediction of the disease in low-lying areas of China. Am J Epidemiol (1998) 1.72

Valproate protects dopaminergic neurons in midbrain neuron/glia cultures by stimulating the release of neurotrophic factors from astrocytes. Mol Psychiatry (2006) 1.71

Randomized European multicenter trial of surfactant replacement therapy for severe neonatal respiratory distress syndrome: single versus multiple doses of Curosurf. Pediatrics (1992) 1.71

Antibody-induced epidermal growth factor receptor dimerization mediates inhibition of autocrine proliferation of A431 squamous carcinoma cells. J Biol Chem (1994) 1.69

Expression of dominant-negative and mutant isoforms of the antileukemic transcription factor Ikaros in infant acute lymphoblastic leukemia. Proc Natl Acad Sci U S A (1999) 1.69

What is the excess risk of infertility in women after genital chlamydia infection? A systematic review of the evidence. Sex Transm Infect (2007) 1.68