Hybrids monosomal for human chromosome 5 reveal the presence of a spinal muscular atrophy (SMA) carrier with two SMN1 copies on one chromosome.

PubWeight™: 0.90‹?›

🔗 View Article (PMID 11281448)

Published in Hum Genet on February 01, 2001

Authors

M D Mailman1, T Hemingway, R L Darsey, C E Glasure, Y Huang, R B Chadwick, J W Heinz, A C Papp, P J Snyder, M S Sedra, R W Schafer, D N Abuelo, E W Reich, K S Theil, A H Burghes, A de la Chapelle, T W Prior

Author Affiliations

1: Department of Pathology, The Ohio State University, Columbus 43210, USA.

Articles by these authors

HIV-1 entry into CD4+ cells is mediated by the chemokine receptor CC-CKR-5. Nature (1996) 20.59

Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62

A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35

Karyotypic analysis predicts outcome of preremission and postremission therapy in adult acute myeloid leukemia: a Southwest Oncology Group/Eastern Cooperative Oncology Group Study. Blood (2000) 9.60

Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47

Robust perfect adaptation in bacterial chemotaxis through integral feedback control. Proc Natl Acad Sci U S A (2000) 7.67

Hepatic arterial infusion of chemotherapy after resection of hepatic metastases from colorectal cancer. N Engl J Med (1999) 7.04

Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73

Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61

Hyperpolarizing vasodilators activate ATP-sensitive K+ channels in arterial smooth muscle. Science (1989) 5.60

The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy. Hum Mol Genet (2000) 5.38

An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30

The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21

A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum Mol Genet (1999) 5.09

Indium phosphide nanowires as building blocks for nanoscale electronic and optoelectronic devices. Nature (2001) 5.09

Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87

The survival motor neuron protein in spinal muscular atrophy. Hum Mol Genet (1997) 4.86

A genetic map and recombination parameters of the human malaria parasite Plasmodium falciparum. Science (1999) 4.75

In vivo evidence of structural brain asymmetry in musicians. Science (1995) 4.71

Electrostatic interactions of S4 voltage sensor in Shaker K+ channel. Neuron (1995) 4.49

The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43

Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number. Am J Hum Genet (1997) 4.29

Identification of a chlamydial protease-like activity factor responsible for the degradation of host transcription factors. J Exp Med (2001) 4.27

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

Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16

Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13

Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01

Separation of human breast cancer cells from blood by differential dielectric affinity. Proc Natl Acad Sci U S A (1995) 4.00

Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98

Nucleotide sequence of the G protein gene of human respiratory syncytial virus reveals an unusual type of viral membrane protein. Proc Natl Acad Sci U S A (1985) 3.93

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle. Nature (1988) 3.85

SMN oligomerization defect correlates with spinal muscular atrophy severity. Nat Genet (1998) 3.51

Imaging human mesolimbic dopamine transmission with positron emission tomography: I. Accuracy and precision of D(2) receptor parameter measurements in ventral striatum. J Cereb Blood Flow Metab (2001) 3.31

Proton-pump inhibitors and risk of fractures: an update meta-analysis. Osteoporos Int (2016) 3.30

Conversion of diploidy to haploidy. Nature (2000) 3.28

Efficacies of different preparations of glucosamine for the treatment of osteoarthritis: a meta-analysis of randomised, double-blind, placebo-controlled trials. Int J Clin Pract (2013) 3.16

A chemokine receptor CCR2 allele delays HIV-1 disease progression and is associated with a CCR5 promoter mutation. Nat Med (1998) 3.15

A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04

A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03

Myoblast transfer in the treatment of Duchenne's muscular dystrophy. N Engl J Med (1995) 2.96

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

Synergistic activation of the insulin gene by a LIM-homeo domain protein and a basic helix-loop-helix protein: building a functional insulin minienhancer complex. Genes Dev (1992) 2.86

Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86

Automated analysis of protein NMR assignments using methods from artificial intelligence. J Mol Biol (1997) 2.86

Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy. Science (1988) 2.82

A cardiac myocyte vascular endothelial growth factor paracrine pathway is required to maintain cardiac function. Proc Natl Acad Sci U S A (2001) 2.77

Physicochemical foundations and structural design of hydrogels in medicine and biology. Annu Rev Biomed Eng (2000) 2.73

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73

Use of allelic loss to predict malignant risk for low-grade oral epithelial dysplasia. Clin Cancer Res (2000) 2.71

Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71

High-density lipoprotein cholesterol as a predictor of coronary heart disease risk. The PROCAM experience and pathophysiological implications for reverse cholesterol transport. Atherosclerosis (1996) 2.70

Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70

Transdermal testosterone gel improves sexual function, mood, muscle strength, and body composition parameters in hypogonadal men. J Clin Endocrinol Metab (2000) 2.68

Mediation of tubuloglomerular feedback by adenosine: evidence from mice lacking adenosine 1 receptors. Proc Natl Acad Sci U S A (2001) 2.65

Changes in Friend murine erythroleukaemia cell membranes during induced differentiation determined by electrorotation. Biochim Biophys Acta (1994) 2.65

Pathway leading to correctly folded beta-tubulin. Cell (1996) 2.55

A cDNA clone from the Duchenne/Becker muscular dystrophy gene. Nature (1987) 2.55

Prevalence of the factor VLeiden mutation among autopsy patients with pulmonary thromboembolic disease using an improved method for factor VLeiden detection. Am J Clin Pathol (1999) 2.55

PET imaging of serotonin 1A receptor binding in depression. Biol Psychiatry (1999) 2.48

Apolipoprotein E: from atherosclerosis to Alzheimer's disease and beyond. Curr Opin Lipidol (1999) 2.48

HIV-1 subtype and second-receptor use. Nature (1996) 2.46

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

Case study of the effects of atmospheric aerosols and regional haze on agriculture: an opportunity to enhance crop yields in China through emission controls? Proc Natl Acad Sci U S A (1999) 2.44

Proteolytic activation of protein kinase C delta by an ICE/CED 3-like protease induces characteristics of apoptosis. J Exp Med (1996) 2.42

Pluripotency factors Lin28 and Oct4 identify a sub-population of stem cell-like cells in ovarian cancer. Oncogene (2010) 2.42

Apoptosis and growth inhibition in malignant lymphocytes after treatment with arsenic trioxide at clinically achievable concentrations. J Natl Cancer Inst (1999) 2.41

Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40

hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39

Arterial dilations in response to calcitonin gene-related peptide involve activation of K+ channels. Nature (1990) 2.39

When is a deletion not a deletion? When it is converted. Am J Hum Genet (1997) 2.38

Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38

Loss of imprinting of the insulin-like growth factor II gene occurs by biallelic methylation in a core region of H19-associated CTCF-binding sites in colorectal cancer. Proc Natl Acad Sci U S A (2000) 2.38

Spontaneous mutation and parental age in humans. Am J Hum Genet (1987) 2.37

Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33

Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27

Control of alternative behavioral states by serotonin in Caenorhabditis elegans. Neuron (1998) 2.26

Gonadotroph adenoma in a premenopausal woman secreting follicle-stimulating hormone and causing ovarian hyperstimulation. J Clin Endocrinol Metab (1995) 2.20

A novel cDNA detects homozygous microdeletions in greater than 50% of type I spinal muscular atrophy patients. Nat Genet (1995) 2.17

A novel RNA-binding motif in influenza A virus non-structural protein 1. Nat Struct Biol (1997) 2.16

Dystrophin expression and somatic reversion in prednisone-treated and untreated Duchenne dystrophy. CIDD Study Group. Neurology (1991) 2.16

Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14

Diagnosis of Duchenne dystrophy by enhanced detection of small mutations. Neurology (2001) 2.13

Cell separation by dielectrophoretic field-flow-fractionation. Anal Chem (2000) 2.13

Molecular and phenotypic analysis of patients with deletions within the deletion-rich region of the Duchenne muscular dystrophy (DMD) gene. Am J Hum Genet (1989) 2.12

Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08

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

A new focal adhesion protein that interacts with integrin-linked kinase and regulates cell adhesion and spreading. J Cell Biol (2001) 2.04

Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03

Theaflavins in black tea and catechins in green tea are equally effective antioxidants. J Nutr (2001) 2.02

p53-dependent and -independent regulation of the death receptor KILLER/DR5 gene expression in response to genotoxic stress and tumor necrosis factor alpha. Cancer Res (1998) 2.02

Solution structure of the cellular factor BAF responsible for protecting retroviral DNA from autointegration. Nat Struct Biol (1998) 2.00

Long-term pharmacokinetics of transdermal testosterone gel in hypogonadal men. J Clin Endocrinol Metab (2000) 1.99

Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res (1997) 1.98