نتایج جستجو برای: familial translocations

تعداد نتایج: 61491  

Journal: :American journal of clinical pathology 2008
Christian E Keller Subhadra Nandula Julie Fisher Shivakumar Subramaniyam Efsevia Vakiani David G Savage Vundavalli V Murty Bachir Alobeid Govind Bhagat

Dual IgH/BCL2 and BCL6 translocations are rarely observed in B-cell non-Hodgkin lymphomas (B-NHLs). We investigated the morphologic, phenotypic, and cytogenetic spectrum of B-NHL with such dual translocations. Dual IgH/BCL2 and BCL6 translocations were detected in follicular lymphomas (FLs) and diffuse large B-cell lymphomas (DLBCLs), representing 6.1% of 132 B-NHLs in our series, including 6 (...

Journal: :Molecular and cellular biology 2009
José F Ruiz Belén Gómez-González Andrés Aguilera

Double-strand breaks (DSBs) are harmful DNA lesions that can generate chromosomal rearrangements or chromosome losses if not properly repaired. Despite their association with a number of genetic diseases and cancer, the mechanisms by which DSBs cause rearrangements remain unknown. Using a newly developed experimental assay for the analysis of translocations occurring between two chromosomes in ...

Journal: :Blood 2003
Rafael Fonseca Carina S Debes-Marun Elisa B Picken Gordon W Dewald Sandra C Bryant Jerry M Winkler Emily Blood Martin M Oken Rafael Santana-Dávila Natalia González-Paz Robert A Kyle Morie A Gertz Angela Dispenzieri Martha Q Lacy Philip R Greipp

Aneuploid is ubiquitous in multiple myeloma (MM), and 4 cytogenetic subcategories are recognized: hypodiploid (associated with a shorter survival), pseudodiploid, hyperdiploid, and near-tetraploid MM. The hypodiploid, pseudodiploid, and near-tetraploid karyotypes can be referred to as the nonhyperdiploid MM. Immunoglobulin heavy-chain (IgH) translocations are seen in 60% of patients. We studied...

Journal: :Annual review of immunology 2011
Monica Gostissa Frederick W Alt Roberto Chiarle

Recurrent chromosomal translocations are characteristic features of many types of cancers, especially lymphomas and leukemias. Several basic mechanistic factors are required for the generation of most translocations. First, DNA double-strand breaks (DSBs) must be present simultaneously at the two participating loci. Second, the two broken loci must either be in proximity or be moved into proxim...

2012
Jason E. Chan Richard D. Kolodner

Aneuploidy and gross chromosomal rearrangements (GCRs) can lead to genetic diseases and the development of cancer. We previously demonstrated that introduction of the repetitive retrotransposon Ty912 onto a nonessential chromosome arm of Saccharomyces cerevisiae led to increased genome instability predominantly due to increased rates of formation of monocentric nonreciprocal translocations. In ...

2015
Angela Chou Sheila Fraser Christopher W. Toon Adele Clarkson Loretta Sioson Mahtab Farzin Carmen Cussigh Ahmad Aniss Christine O’Neill Nicole Watson Roderick J. Clifton-Bligh Diana L. Learoyd Bruce G. Robinson Christina I. Selinger Leigh W. Delbridge Stanley B. Sidhu Sandra A. O’Toole Mark Sywak Anthony J. Gill

Pathogenic ALK translocations have been reported in papillary thyroid carcinoma (PTC). We developed and validated a screening algorithm based on immunohistochemistry (IHC), followed by fluorescence in situ hybridization (FISH) in IHC-positive cases to identify ALK-rearranged PTC. IHC and FISH were performed in a cohort of 259 thyroid carcinomas enriched for aggressive variants. IHC was positive...

Journal: :Genetics 1985
D L Welker K L Williams

Fourteen translocations of independent origin were identified in Dictyostelium discoideum on the basis of segregation anomalies of diploids heterozygous for these chromosome rearrangements, all of which led to the cosegregation of unlinked markers. Many of these translocations were discovered in strains mutagenized with MNNG or in strains carrying mutations affecting DNA repair; however, sponta...

2018
Cheng-Yu Lin Ankit Shukla John P Grady J Lynn Fink Eloise Dray Pascal H G Duijf

Chromosomal translocations drive the development of many hematological and some solid cancers. Several factors have been identified to explain the non-random occurrence of translocation breakpoints in the genome. These include chromatin density, gene density and CCCTC-binding factor (CTCF)/cohesin binding site density. However, such factors are at least partially interdependent. Using 13,844 an...

Journal: :Genetics 1986
G Leblon D Zickler S Lebilcot

In fungi, translocations can be identified and classified by the patterns of ascospore abortion in asci from crosses of rearrangement x normal sequence. Previous studies of UV-induced rearrangements in Sordaria macrospora revealed that a major class (called type III) appeared to be reciprocal translocations that were anomalous in producing an unexpected class of asci with four aborted ascospore...

تابعی, سید محمد باقر, دیانت پور, مهدی, غفوری فرد, سوده, میریونسی, محمد,

Background: Mental retardation is defined as impaired mental capacity and ability to comply with environmental and social conditions. Chromosomal abnormalities are the most important causes of mental retardation. Carriers of balanced chromosomal translocation are phenotypically normal, although they may be at risk of infertility, recurrent miscarriage or giving birth to mentally retarded childr...

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