14 research outputs found
Comparative chromosome painting discloses homologous Segments in distantly related mammals
Comparative chromosome painting, termed ZOO-FISH, using DNA libraries from flow
sorted human chromosomes 1,16,17 and X, and mouse chromosome 11 discloses the
presence of syntenic groups in distantly related mammalian Orders ranging from
primates (Homo sapiens), rodents (Mus musculus), even-toed ungulates (Muntiacus
muntjak vaginalis and Muntiacus reevesi) and whales (Balaenoptera physalus). These
mammalian Orders have evolved separately for 55-80 million years (Myr). We conclude
that ZOO-FISH can be used to generate comparative chromosome maps of a large
number of mammalian species
Positive impact of retrograde autologous priming in adult patients undergoing cardiac surgery: a randomized clinical trial
Steep medial tibial slope and prolonged delay to surgery are associated with bilateral medial meniscus posterior root tear
New mutations in the ATM gene and clinical data of 25 AT patients
Ataxia telangiectasia (AT) is an autosomal recessive disorder characterized by cerebellar degeneration, immunodeficiency, oculocutaneous telangiectasias, chromosomal instability, radiosensitivity, and cancer predisposition. The gene mutated in the patients, ATM, encodes a member of the phosphatidylinositol 3-kinase family proteins. The ATM protein has a key role in the cellular response to DNA damage. Truncating and splice site mutations in ATM have been found in most patients with the classical AT phenotype. Here we report of our extensive ATM mutation screening on 25 AT patients from 19 families of different ethnic origin. Previously unknown mutations were identified in six patients including a new homozygous missense mutation, c.8110T > C (p.Cys2704Arg), in a severely affected patient. Comprehensive clinical data are presented for all patients described here along with data on ATM function generated by analysis of cell lines established from a subset of the patients