Crystal Structure of the Tyrosine Phosphatase SHP-2

The structure of the SHP-2 tyrosine phosphatase, determined at 2.0 angstroms resolution, shows how its catalytic activity is regulated by its two SH2 domai...

P Hof，S Pluskey，S Dhe-Paganon，... - 《Cell》

Mortality and cancer incidence in 263 patients with ataxia-telangiectasia.

Mortality and cancer incidence were measured retrospectively in 263 ataxia-telangiectasia (A-T) homozygotes. For white and black A-T patients, respectively, all-cause mortality was 50 and 147 times higher than expected based on U.S. mort...

D Morrell，E Cromartie，M Swift - 《Journal of the National Cancer Institute》

The Cbl interactome and its functions

Cbl proteins are ubiquitin ligases and multifunctional adaptor proteins that are implicated in the regulation of signal transduction in various cell types ...

MHH Schmidt，I Dikic - 《Nat Rev Mol Cell Biol》

Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients

Type 1 Neurofibromatosis, NF1, is a common genetic disorder with variable clinical manifestations. Although NF1 often is only of cosmetic concern, serious ...

JM Friedman，PH Birch - 《Am J Med Genet》

Bloom's syndrome. IV. Sister-chromatid exchanges in lymphocytes.

An abnormally great amount of exhange between both sister and nonsister-but-homologous chromatids is a highly characteristic feature of cultured blood lymp...

JS German，S Schonberg，E Louie，... - 《American Journal of Human Genetics》

Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene

Multiple-lentigines (ML)/LEOPARD (multiple lentigines, electrocardiographic-conduction abnormalities, ocular hypertelorism, pulmonary stenosis, abnormal ge...

MC Digilio，E Conti，A Sarkozy，... - 《American Journal of Human Genetics》

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing

Objectives: To utilize radiosensitivity testing to improve early diagnosis of patients with ataxia-telangiectasia (A-T). Study design: We established norma...

S Xia，SG Becker-Catania，HH Chun，... - 《J Pediatr》

Mutations in the Nijmegen Breakage Syndrome gene (NBS1) in childhood acute lymphoblastic leukemia (ALL).

The Nijmegen Breakage Syndrome (NBS) is a rare autosomal recessive disorder associated with immune deficiency, chromosome fragility, and increased suscepti...

R Varon，A Reis，G Henze，... - 《Cancer Research》

SUR-8, a conserved Ras-binding protein with leucine-rich repeats, positively regulates Ras-mediated signaling in C. elegans.

We describe the identification and characterization of a novel gene, sur-8 , that positively regulates Ras-mediated signal transduction during C. elegans ...

DS Sieburth，Q Sun，H Min - 《Cell》

Non-Hodgkin's lymphoma in pediatric patients with chromosomal breakage syndromes (AT and NBS): Experience from the BFM trials

Lymphoma and leukemia are the commonest malignant diseases in patients with chromosomal breakage syndromes and immunodeficiency (Ataxia teleangiectasia (AT...

K Seidemann，G Henze，JD Beck，... - 《Annals of Oncology Official Journal of the European Society for Medical Oncology》