Enhanced phosphorylation of p53 by ATM in response to DNA damage | Science | 1998 | 1.6K |
Mutation in transcription factor POU4F3 associated with inherited progressive hearing loss in humans | Science | 1998 | 269 |
ATM: from gene to function | Human Molecular Genetics | 1998 | 245 |
Time-dependent variations of the skin barrier function in humans: transepidermal water loss, stratum corneum hydration, skin surface pH, and skin temperature | Journal of Investigative Dermatology | 1998 | 211 |
Genotype-phenotype relationships in ataxia-telangiectasia and variants | American Journal of Human Genetics | 1998 | 211 |
A global survey of haplotype frequencies and linkage disequilibrium at the DRD2 locus | Human Genetics | 1998 | 188 |
ATM binds to beta-adaptin in cytoplasmic vesicles | Proceedings of the National Academy of Sciences of the United States of America | 1998 | 155 |
The mouse and human genes encoding the recognition component of the N-end rule pathway | Proceedings of the National Academy of Sciences of the United States of America | 1998 | 142 |
Selective loss of dopaminergic nigro-striatal neurons in brains of Atm-deficient mice | Proceedings of the National Academy of Sciences of the United States of America | 1998 | 85 |
A Novel Mutation in the Coding Sequence of the FY*B Allele of the Duffy Chemokine Receptor Gene Is Associated With an Altered Erythrocyte Phenotype | Blood | 1998 | 76 |
Sleep disturbances in children with attention-deficit/hyperactivity disorder: a comparative study with healthy siblings | Journal of Learning Disabilities | 1998 | 72 |
Increased rate of nondisjunction in sex cells derived from low-quality semen | Human Genetics | 1998 | 60 |
The calpain-calpastatin system and protein degradation in fusing myoblasts | Biochimica Et Biophysica Acta - Molecular Cell Research | 1998 | 56 |
Localization of the gene for congenital dyserythropoietic anemia type I to a <1-cM interval on chromosome 15q15.1-15.3 | American Journal of Human Genetics | 1998 | 48 |
Genetic influence on the prevalence of torus palatinus | American Journal of Medical Genetics Part A | 1998 | 41 |
Prospects for gene therapy of insulin-dependent diabetes mellitus | Diabetologia | 1998 | 39 |
Asynchronous replication of homologous alpha-satellite DNA loci in man is associated with nondisjunction | Cytogenetic and Genome Research | 1998 | 39 |
Identification of ATM mutations using extended RT-PCR and restriction endonuclease fingerprinting, and elucidation of the repertoire of A-T mutations in Israel | Human Mutation | 1998 | 36 |
Novel ATP7B mutations causing Wilson disease in several Israeli ethnic groups | Human Mutation | 1998 | 35 |
NGF induces transient but not sustained activation of ERK in PC12 mutant cells incapable of differentiating | Journal of Cellular Biochemistry | 1998 | 33 |
Upregulation of the calcium-dependent protease, calpain, during keratinocyte differentiation | British Journal of Dermatology | 1998 | 32 |
Low-dose high-frequency enzyme replacement therapy prevents fractures without complete suppression of painful bone crises in patients with severe juvenile onset type I Gaucher disease | Blood Cells, Molecules, and Diseases | 1998 | 23 |
A novel mutation in the coding sequence of the FY*B allele of the Duffy chemokine receptor gene is associated with an altered erythrocyte phenotype | Blood | 1998 | 22 |
Inhibition of Streptomyces griseus aminopeptidase and effects of calcium ions on catalysis and binding--comparisons with the homologous enzyme Aeromonas proteolytica aminopeptidase | FEBS Journal | 1998 | 21 |
Replication timing of the various FMR1 alleles detected by FISH: inferences regarding their transcriptional status | Human Genetics | 1998 | 16 |