Splicing Defects in the Ataxia-Telangiectasia Gene, ATM: Underlying Mutations and Consequences

The Metabolic and Molecular Bases of Inherited Disease

1995 • 12,086 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

1995 • 2,767 citations

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

1987 • 2,333 citations

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

1992 • 1,338 citations

SPLICING OF MESSENGER RNA PRECURSORS

1986 • 1,233 citations

Incidence of Cancer in 161 Families Affected by Ataxia–Telangiectasia

1991 • 944 citations

Splicing of Messenger RNA Precursors

1987 • 919 citations

Splicing of Messenger RNA Precursors

1984 • 874 citations

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

1995 • 540 citations

When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.

1995 • 515 citations

The Skipping of Constitutive Exons in Vivo Induced by Nonsense Mutations

1993 • 440 citations

ATM Mutations and Phenotypes in Ataxia-Telangiectasia Families in the British Isles: Expression of Mutant ATM and the Risk of Leukemia, Lymphoma, and Breast Cancer

1998 • 403 citations

Heterozygous ATM mutations do not contribute to early onset of breast cancer

1997 • 347 citations

Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast cancer

1996 • 336 citations

A suggested nomenclature for designating mutations

1993 • 317 citations

Predominance of null mutations in ataxia-telangiectasia

1996 • 293 citations

Cancer Risks in A-T Heterozygotes

1994 • 287 citations

The Regulation of Splice-Site Selection, and Its Role in Human Disease

1997 • 277 citations

Genotype-Phenotype Relationships in Ataxia-Telangiectasia and Variants

1998 • 257 citations

Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

1996 • 241 citations

Mutations associated with variant phenotypes in ataxia-telangiectasia.

1996 • 190 citations

Diversity ofATM gene mutations detected in patients with ataxia-telangiectasia

1997 • 180 citations

Ataxia-Telangiectasia: Identification and Detection of Founder-Effect Mutations in the ATM Gene in Ethnic Populations

1998 • 171 citations

Genomic Organization of the ATM Gene

1996 • 167 citations

The ATM gene and susceptibility to breast cancer: analysis of 38 breast tumors reveals no evidence for mutation.

1996 • 154 citations

Analysis of the ATM protein in wild-type and ataxia telangiectasia cells.

1996 • 152 citations

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1992 • 150 citations

Ataxia-telangiectasia: mutations in ATM cDNA detected by protein-truncation screening.

1996 • 144 citations

Nonsense Mutations Inhibit RNA Splicing in a Cell-Free System: Recognition of Mutant Codon Is Independent of Protein Synthesis

1996 • 132 citations

The Product of the ATM Gene Is a 370-kDa Nuclear Phosphoprotein

1996 • 131 citations

Nonsense but not missense mutations can decrease the abundance of nuclear mRNA for the mouse major urinary protein, while both types of mutations can facilitate exon skipping.

1994 • 131 citations

Radiosensitivity of ataxia-telangiectasia, X-linked agammaglobulinemia, and related syndromes using a modified colony survival assay.

1994 • 95 citations

A high frequency of distinct ATM gene mutations in ataxia-telangiectasia.

1996 • 81 citations

Splicing Defects in the COL3A1 Gene: Marked Preference for 5′ (Donor) Splice-Site Mutations in Patients with Exon-Skipping Mutations and Ehlers-Danlos Syndrome Type IV

1997 • 71 citations

Ataxia-telangiectasia: structural diversity of untranslated sequences suggests complex post-transcriptional regulation of ATM gene expression

1997 • 63 citations

ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome.

1989 • 61 citations

Nonsense but Not Missense Mutations Can Decrease the Abundance of Nuclear mRNA for the Mouse Major Urinary Protein, While Both Types of Mutations Can Facilitate Exon Skipping

1994 • 50 citations

Nearby Stop Codons in Exons of the Neurofibromatosis Type 1 Gene Are Disparate Splice Effectors

1998 • 50 citations

The Stop Mutation R553X in the CFTR Gene Results in Exon Skipping

1994 • 48 citations

Localizing the Genes for Ataxia-Telangiectasia: A Human Model for Inherited Cancer Susceptibility

1991 • 38 citations

A frequent polymorphism of the gene mutated in ataxia telangiectasia

1997 • 7 citations