Genomes and Genes
Experts and Doctors on chromosome aberrations in New York, United States
Locale: New York, United States
Topic: chromosome aberrations
Publications105 found, 100 shown here
- McCarthy E, Celebi J, Baer R, Ludwig T. Loss of Bard1, the heterodimeric partner of the Brca1 tumor suppressor, results in early embryonic lethality and chromosomal instability. Mol Cell Biol. 2003;23:5056-63 pubmed
- Sevilla D, Murty V, Sun X, Nandula S, Mansukhani M, Alobeid B, et al. Cytogenetic abnormalities in reactive lymphoid hyperplasia: byproducts of the germinal centre reaction or indicators of lymphoma?. Hematol Oncol. 2011;29:81-90 pubmed publisher..Their occurrence portends low risk for lymphomagenesis, however longer follow-up is prudent to further evaluate the natural history of such cases. ..
- Talos F, Moll U. Role of the p53 family in stabilizing the genome and preventing polyploidization. Adv Exp Med Biol. 2010;676:73-91 pubmed..Constitutive deregulation of Cyclin-Cdk and p27/Kip1 activities and excess failure of the G2/M DNA damage checkpoint are important deficiencies associated with p73 loss. ..
- Najfeld V, Montella L, Scalise A, Fruchtman S. Exploring polycythaemia vera with fluorescence in situ hybridization: additional cryptic 9p is the most frequent abnormality detected. Br J Haematol. 2002;119:558-66 pubmed..6% of patients. FISH uncovered rearrangements of chromosome 9 in 53% of patients with an abnormal FISH pattern, which represented the most frequent genomic alteration in this series. ..
- Sivanandam S, Glickstein J, Printz B, Allan L, Altmann K, Solowiejczyk D, et al. Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies. Am J Perinatol. 2006;23:241-5 pubmed..Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis. ..
- Saeki H, Siaud N, Christ N, Wiegant W, van Buul P, Han M, et al. Suppression of the DNA repair defects of BRCA2-deficient cells with heterologous protein fusions. Proc Natl Acad Sci U S A. 2006;103:8768-73 pubmed
- Salem F, Rosenblum M, Jhanwar S, Kancherla P, Ghossein R, Carlson D. Teratocarcinosarcoma of the nasal cavity and paranasal sinuses: report of 3 cases with assessment for chromosome 12p status. Hum Pathol. 2008;39:605-9 pubmed publisher..Our findings suggest that 12p amplification, if it occurs at all in this setting, is exceptional and that SNTCS is a somatic-type neoplasm exhibiting divergent differentiation rather than a germ cell tumor. ..
- ..With new cytogenetic and molecular technologies additional genetic causes of stillbirth are likely to be described and will provide additional information for appropriate genetic counseling. ..
- Liu S, Feng H, Marchesi D, Chen Z, Hershlag A. Effect of gonadotropins on dynamic events and global deoxyribonucleic acid methylation during in vitro maturation of oocytes: an animal model. Fertil Steril. 2011;95:1503-6.e1-3 pubmed publisher..The present study highlights the importance of judicious use of gonadotropins and can be applied to clinical stimulation protocols to reduce the potential risks. ..
- Savage M, Mourad M, Wapner R. Evolving applications of microarray analysis in prenatal diagnosis. Curr Opin Obstet Gynecol. 2011;23:103-8 pubmed publisher..Previous research regarding use of microarray in prenatal diagnosis including specific scenarios of anomalous fetuses and abnormal karyotype is reviewed. Current guidelines and the authors' recommendations are presented. ..
- Geyer J, Verma S, Mathew S, Wang Y, Racchumi J, Espinal Witter R, et al. Bone marrow morphology predicts additional chromosomal abnormalities in patients with myelodysplastic syndrome with del(5q). Hum Pathol. 2013;44:346-56 pubmed publisher..The presence of these morphologic features can be used to distinguish these more aggressive cases from those with myelodysplastic syndrome with isolated 5q- and a more benign clinical course. ..
- Zhu X, Niedernhofer L, Kuster B, Mann M, Hoeijmakers J, de Lange T. ERCC1/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol Cell. 2003;12:1489-98 pubmed
- Qi L, Li L, Chen Y, Chen Z, Bai T, Xiang B, et al. Genome-wide and differential proteomic analysis of hepatitis B virus and aflatoxin B1 related hepatocellular carcinoma in Guangxi, China. PLoS ONE. 2013;8:e83465 pubmed publisher..In summary, a number of genetic and gene expression alterations were found to be associated with HBV and AFB1- related HCC. The possible synergistic effects of HBV and AFB1 in hepatocarcinogenesis warrant further investigations. ..
- Shaffer D, Viale A, Ishiwata R, Leversha M, Olgac S, Manova K, et al. Evidence for a p27 tumor suppressive function independent of its role regulating cell proliferation in the prostate. Proc Natl Acad Sci U S A. 2005;102:210-5 pubmed..These experiments provide direct physiological and causal evidence that p27 has tumor suppressive functions independent of its role regulating cell proliferation. ..
- Malone F, Ball R, Nyberg D, Comstock C, Saade G, Berkowitz R, et al. First-trimester septated cystic hygroma: prevalence, natural history, and pediatric outcome. Obstet Gynecol. 2005;106:288-94 pubmed..Most pregnancies with normal evaluation at the completion of the second trimester resulted in a healthy infant with a normal pediatric outcome. ..
- Strino F, Parisi F, Micsinai M, Kluger Y. TrAp: a tree approach for fingerprinting subclonal tumor composition. Nucleic Acids Res. 2013;41:e165 pubmed publisher..Finally, we deconvolve sequencing data from eight acute myeloid leukemia patients and three distinct metastases of one melanoma patient to exhibit the evolutionary relationships of their subpopulations. ..
- Arkilo D, Devinsky O, Mudigoudar B, Boronat S, Jennesson M, Sassower K, et al. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q). Epilepsy Behav. 2016;57:133-136 pubmed publisher..The significance of these findings in cognitive function and epilepsy for the children in our cohort needs to be determined with follow-up studies. ..
- Pandita T, Westphal C, Anger M, Sawant S, Geard C, Pandita R, et al. Atm inactivation results in aberrant telomere clustering during meiotic prophase. Mol Cell Biol. 1999;19:5096-105 pubmed..We propose that the severe disruption of spermatogenesis during early prophase I in the absence of functional Atm may be partly due to altered interactions of telomeres with the nuclear matrix and distorted meiotic telomere clustering. ..
- Shuryak I. Quantitative modeling of responses to chronic ionizing radiation exposure using targeted and non-targeted effects. PLoS ONE. 2017;12:e0176476 pubmed publisher..The importance of NTE in our model-based analysis suggests that the search for modulators of NTE-related signaling pathways could be a promising strategy for mitigating the deleterious effects of chronic irradiation...
- Zanssen S, Gunawan B, Fuzesi L, Warburton D, Schon E. Renal oncocytomas with rearrangements involving 11q13 contain breakpoints near CCND1. Cancer Genet Cytogenet. 2004;149:120-4 pubmed..The rearrangement in one tumor consisted of a segmental duplication that included 11q13, suggesting that known mitochondrially targeted genes immediately distal to CCND1 may be involved in oncocytic proliferation. ..
- Brien G, Valerio D, Armstrong S. Exploiting the Epigenome to Control Cancer-Promoting Gene-Expression Programs. Cancer Cell. 2016;29:464-476 pubmed publisher..We also highlight additional opportunities to further unlock the therapeutic potential within the cancer epigenome. ..
- Li G, Ouyang H, Li X, Nagasawa H, Little J, Chen D, et al. Ku70: a candidate tumor suppressor gene for murine T cell lymphoma. Mol Cell. 1998;2:1-8 pubmed..These findings directly demonstrate that Ku70 deficiency facilitates neoplastic growth and suggest a novel role of the Ku70 locus in tumor suppression. ..
- Cheung N, Kushner B, LaQuaglia M, Kramer K, Gollamudi S, Heller G, et al. N7: a novel multi-modality therapy of high risk neuroblastoma (NB) in children diagnosed over 1 year of age. Med Pediatr Oncol. 2001;36:227-30 pubmed..Major toxicities were grade 4 myelosuppression and mucositis during chemotherapy, and self-limited pain and urticaria during antibody treatment. Late effects include hearing deficits and hypothyroidism. ..
- Araten D, Swirsky D, Karadimitris A, Notaro R, Nafa K, Bessler M, et al. Cytogenetic and morphological abnormalities in paroxysmal nocturnal haemoglobinuria. Br J Haematol. 2001;115:360-8 pubmed..However, none of our patients developed excess blasts or leukaemia. We conclude that in patients with PNH cytogenetically abnormal clones are not necessarily malignant and may not be predictive of evolution to leukaemia. ..
- Seward S, Gahl W. Hermansky-Pudlak syndrome: health care throughout life. Pediatrics. 2013;132:153-60 pubmed publisher..In addition, some patients with HPS develop granulomatous colitis. Optimal health care requires a thorough knowledge of the unique health risks and functional limitations associated with this syndrome. ..
- Singh B, Gogineni S, Goberdhan A, Sacks P, Shaha A, Shah J, et al. Spectral karyotyping analysis of head and neck squamous cell carcinoma. Laryngoscope. 2001;111:1545-50 pubmed..The use of SKY, in combination with other techniques, may allow for a more complete assessment of the genetic abnormalities of head and neck cancers and serve as a starting point for gene identification. ..
- Jhang J, Narayan G, Murty V, Mansukhani M. Renal oncocytomas with 11q13 rearrangements: cytogenetic, molecular, and immunohistochemical analysis of cyclin D1. Cancer Genet Cytogenet. 2004;149:114-9 pubmed
- Hopkins K, Auerbach W, Wang X, Hande M, Hang H, Wolgemuth D, et al. Deletion of mouse rad9 causes abnormal cellular responses to DNA damage, genomic instability, and embryonic lethality. Mol Cell Biol. 2004;24:7235-48 pubmed..These investigations establish Mrad9 as a key mammalian genetic element of pathways that regulate the cellular response to DNA damage, maintenance of genomic integrity, and proper embryonic development. ..
- Park K, Tomlins S, Mudaliar K, Chiu Y, Esgueva R, Mehra R, et al. Antibody-based detection of ERG rearrangement-positive prostate cancer. Neoplasia. 2010;12:590-8 pubmed..Given the ease of performing IHC versus FISH, ERG protein expression may be useful for molecularly subtyping prostate cancer based on ERG rearrangement status and suggests clinical utility in prostate needle biopsy evaluation. ..
- Dias L, Thodima V, Friedman J, Ma C, Guttapalli A, Mendiratta G, et al. Cross-platform assessment of genomic imbalance confirms the clinical relevance of genomic complexity and reveals loci with potential pathogenic roles in diffuse large B-cell lymphoma. Leuk Lymphoma. 2016;57:899-908 pubmed publisher
- Nimer S. Is it important to decipher the heterogeneity of "normal karyotype AML"?. Best Pract Res Clin Haematol. 2008;21:43-52 pubmed publisher..Increased understanding of the biological consequences of at least some of these mutations in "normal karyotype AML" is leading to more targeted approaches to develop more effective treatments for this disease. ..
- Miller G, Socci N, Dhall D, D Angelica M, Dematteo R, Allen P, et al. Genome wide analysis and clinical correlation of chromosomal and transcriptional mutations in cancers of the biliary tract. J Exp Clin Cancer Res. 2009;28:62 pubmed publisher..The findings have implications for identification of therapeutic targets, screening, and prognostication. ..
- Garcia R, Inwards C, Unni K. Benign bone tumors--recent developments. Semin Diagn Pathol. 2011;28:73-85 pubmed..Future directions include prognostic and therapeutic applications of these findings. Newer less invasive therapeutic techniques and medical management have been developed for the treatment of certain benign bone tumors. ..
- Babbe H, Chester N, Leder P, Reizis B. The Bloom's syndrome helicase is critical for development and function of the alphabeta T-cell lineage. Mol Cell Biol. 2007;27:1947-59 pubmed..Thus, by ensuring genomic stability, Blm serves a vital role for development, maintenance, and function of T lymphocytes, suggesting a basis for the immune deficiency in Bloom's syndrome. ..
- Hameed M, Dorfman H. Primary malignant bone tumors--recent developments. Semin Diagn Pathol. 2011;28:86-101 pubmed..This review will summarize recent developments and advances in molecular pathogenesis of the more common primary malignant bone neoplasms. ..
- Sreekantaiah C, Kronn D, Marinescu R, Goldin B, Overhauser J. Characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of cri-du-chat syndrome. Am J Med Genet. 1999;86:264-8 pubmed..Such analyses of patients with an isolated catlike cry can avoid an incorrect diagnosis of the cri-du-chat syndrome, which is associated with a more severe prognosis...
- Reuter V. Origins and molecular biology of testicular germ cell tumors. Mod Pathol. 2005;18 Suppl 2:S51-60 pubmed..These benign tumors may be either diploid or aneuploid and have losses of chromosome 9 rather than i(12p). Intratubular SS is commonly encountered but IGCNU is not. The pathogenesis of prepubertal GCT and SS is poorly understood. ..
- Cattoretti G, Pasqualucci L, Ballon G, Tam W, Nandula S, Shen Q, et al. Deregulated BCL6 expression recapitulates the pathogenesis of human diffuse large B cell lymphomas in mice. Cancer Cell. 2005;7:445-55 pubmed..These results define the oncogenic role of BCL6 in the pathogenesis of DLBCL and provide a faithful mouse model of this common disease. ..
- Demichelis F, Setlur S, Beroukhim R, Perner S, Korbel J, Lafargue C, et al. Distinct genomic aberrations associated with ERG rearranged prostate cancer. Genes Chromosomes Cancer. 2009;48:366-80 pubmed publisher..This study provides further support to define a distinct molecular subtype of prostate cancer based on the presence of ETS gene rearrangements. ..
- Wapner R, Driscoll D, Simpson J. Integration of microarray technology into prenatal diagnosis: counselling issues generated during the NICHD clinical trial. Prenat Diagn. 2012;32:396-400 pubmed publisher..Of equal import is additional research into patient attitudes and desires, and a better understanding of the full phenotypic spectrum of copy number variants discovered in utero...
- Nana Sinkam S, Powell C. Molecular biology of lung cancer: Diagnosis and management of lung cancer, 3rd ed: American College of Chest Physicians evidence-based clinical practice guidelines. Chest. 2013;143:e30S-e39S pubmed publisher..We focus on research developments in the understanding of lung cancer somatic DNA mutations, chromosomal aberrations, epigenetics, and the tumor microenvironment, and how they can advance diagnostics and therapeutics. ..
- Zhang Y, Shin S, Liu D, Ivanova E, Foerster F, Ying H, et al. ZNF365 promotes stability of fragile sites and telomeres. Cancer Discov. 2013;3:798-811 pubmed publisher..Thus, the p53-ZNF365 axis contributes to genomic stability in the setting of telomere dysfunction. ..
- Levy B, Dunn T, Kern J, Hirschhorn K, Kardon N. Delineation of the dup5q phenotype by molecular cytogenetic analysis in a patient with dup5q/del 5p (cri du chat). Am J Med Genet. 2002;108:192-7 pubmed..More importantly, our investigation has defined the duplication of 5q34 --> qter as a distinct clinical phenotype...
- Emdad L, Sarkar D, Su Z, Boukerche H, Bar Eli M, Fisher P. Progression elevated gene-3 (PEG-3) induces pleiotropic effects on tumor progression: modulation of genomic stability and invasion. J Cell Physiol. 2005;202:135-46 pubmed..These findings demonstrate that PEG-3 plays a central role in augmenting tumor progression by modulating several critical parameters of the carcinogenic process, such as genomic stability and local tumor cell invasion. ..
- Mukai J, Dhilla A, Drew L, Stark K, Cao L, Macdermott A, et al. Palmitoylation-dependent neurodevelopmental deficits in a mouse model of 22q11 microdeletion. Nat Neurosci. 2008;11:1302-10 pubmed publisher..Our analysis reveals that 22q11.2 microdeletion results in deficits in neuronal development and suggests that impaired neuronal protein palmitoylation contributes to many of these deficits. ..
- Ali L, Helm T, Cheney R, Conroy J, Sait S, Guitart J, et al. Correlating array comparative genomic hybridization findings with histology and outcome in spitzoid melanocytic neoplasms. Int J Clin Exp Pathol. 2010;3:593-9 pubmed..A smaller number of chromosomal aberrations, possibly a single aberrant locus, may be present in spitz tumors, but their presence may predict more aggressive behavior...
- Komanduri K, Levine R. Diagnosis and Therapy of Acute Myeloid Leukemia in the Era of Molecular Risk Stratification. Annu Rev Med. 2016;67:59-72 pubmed publisher..We review the evolution of risk profiling of AML from the cytogenetic to molecular era and describe the implications for AML diagnosis and postremission therapy. ..
- Hassan C, Afshinnekoo E, Li S, Wu S, Mason C. Genetic and epigenetic heterogeneity and the impact on cancer relapse. Exp Hematol. 2017;54:26-30 pubmed publisher..These new discoveries may have significant implications for understanding, monitoring, and treating leukemia and other cancers. ..
- Hopewell R, Ziff E. The nerve growth factor-responsive PC12 cell line does not express the Myc dimerization partner Max. Mol Cell Biol. 1995;15:3470-8 pubmed..Finally, the ability of these cells to divide, differentiate, and apoptose in the absence of Max demonstrates for the first time that these processes can occur via Max- and possibly Myc-independent mechanisms. ..
- Chaganti R, Rodriguez E, Mathew S. Origin of adult male mediastinal germ-cell tumours. Lancet. 1994;343:1130-2 pubmed
- Lezon Geyda K, Najfeld V, Johnson E. Deletions of PURA, at 5q31, and PURB, at 7p13, in myelodysplastic syndrome and progression to acute myelogenous leukemia. Leukemia. 2001;15:954-62 pubmed..Alterations in these genes could affect a delicate balance critical in myeloid development. ..
- Sanna Cherchi S, Kiryluk K, Burgess K, Bodria M, Sampson M, Hadley D, et al. Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet. 2012;91:987-97 pubmed publisher..A search for pathogenic CNVs should be considered in this population for the diagnosis of their specific genomic disorders and for the evaluation of the potential for developmental delay. ..
- Raza A, Galili N. The genetic basis of phenotypic heterogeneity in myelodysplastic syndromes. Nat Rev Cancer. 2012;12:849-59 pubmed publisher..Although emerging insights establish an association between molecular abnormalities and the phenotypic heterogeneity of MDS, their origin and progression remain enigmatic...
- Wapner R, Martin C, Levy B, Ballif B, Eng C, Zachary J, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367:2175-84 pubmed publisher..We aimed to evaluate the accuracy, efficacy, and incremental yield of chromosomal microarray analysis as compared with karyotyping for routine prenatal diagnosis...
- Samaniego F, Rodriguez E, Houldsworth J, Murty V, Ladanyi M, Lele K, et al. Cytogenetic and molecular analysis of human male germ cell tumors: chromosome 12 abnormalities and gene amplification. Genes Chromosomes Cancer. 1990;1:289-300 pubmed..This study comprises the largest series of GCT cytogenetics attempted so far. Notably, it includes data on a series of primary mediastinal tumors, a group which previously has not been studied in any detail. ..
- Roy K, Chiao J, Spengler B, Tolner B, Yang C, Biedler J, et al. Chromosomal localization of the murine RFC-1 gene encoding a folate transporter and its amplification in an antifolate resistant variant overproducing the transporter. Cancer Genet Cytogenet. 1998;105:29-38 pubmed..These results document the amplification at the site of a putative HSR in an L1210 cell variant of the RFC-1 gene regulating expression of the one-carbon, reduced folate transporter. ..
- Xu G, Bestor T, Bourc his D, Hsieh C, Tommerup N, Bugge M, et al. Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene. Nature. 1999;402:187-91 pubmed..Cytosine methylation is essential for the organization and stabilization of a specific type of heterochromatin, and this methylation appears to be carried out by an enzyme specialized for the purpose. ..
- Kuroda M, Sok J, Webb L, Baechtold H, Urano F, Yin Y, et al. Male sterility and enhanced radiation sensitivity in TLS(-/-) mice. EMBO J. 2000;19:453-62 pubmed..These results are consistent with a role for TLS in homologous DNA pairing and recombination. ..
- Silver R. Chronic myeloid leukemia. Hematol Oncol Clin North Am. 2003;17:1159-73, vi-vii pubmed
- Taylor B, Barretina J, Socci N, Decarolis P, Ladanyi M, Meyerson M, et al. Functional copy-number alterations in cancer. PLoS ONE. 2008;3:e3179 pubmed publisher..Taken together, we present a statistically robust methodology applicable to high-resolution genomic data to assess the extent and function of copy-number alterations in cancer. ..
- Reid L, Shakya R, Modi A, Lokshin M, Cheng J, Jasin M, et al. E3 ligase activity of BRCA1 is not essential for mammalian cell viability or homology-directed repair of double-strand DNA breaks. Proc Natl Acad Sci U S A. 2008;105:20876-81 pubmed publisher..These results indicate that key aspects of BRCA1 function in genome maintenance, including its role in homology-directed repair of double-strand DNA breaks, do not depend on the E3 ligase activity of BRCA1. ..
- Jain N, Lamanna N. Incorporating prognostic information into treatment decisions in chronic lymphocytic leukemia. Curr Oncol Rep. 2009;11:353-9 pubmed..To date, no study has shown a benefit from early cytotoxic therapy for any subgroup of patients with chronic lymphocytic leukemia. ..
- Quinzii C, Hirano M. Coenzyme Q and mitochondrial disease. Dev Disabil Res Rev. 2010;16:183-8 pubmed publisher..In vitro and in vivo studies are necessary to further understand the pathogenesis of the disease and to develop more effective therapies...
- Morris L, Taylor B, Bivona T, Gong Y, Eng S, Brennan C, et al. Genomic dissection of the epidermal growth factor receptor (EGFR)/PI3K pathway reveals frequent deletion of the EGFR phosphatase PTPRS in head and neck cancers. Proc Natl Acad Sci U S A. 2011;108:19024-9 pubmed publisher..These findings have important implications for our understanding of head and neck cancer tumorigenesis and for the use of targeted agents for this malignancy. ..
- Henssen A, Koche R, Zhuang J, Jiang E, Reed C, Eisenberg A, et al. PGBD5 promotes site-specific oncogenic mutations in human tumors. Nat Genet. 2017;49:1005-1014 pubmed publisher..These results define PGBD5 as an oncogenic mutator and provide a plausible mechanism for site-specific DNA rearrangements in childhood and adult solid tumors. ..
- Najfeld V, Fuchs S, Merando P, Lezon Geyda K, Fruchtman S. Fluorescence in situ hybridization analysis of the PRV-1 gene in polycythemia vera: implications for its role in diagnosis and pathogenesis. Exp Hematol. 2003;31:118-21 pubmed..Thus, overexpression of PRV-1 in granulocytes from patients with PV is related to mechanisms that do not involve structural genetic changes. ..
- Guo H, Garcia R, Perle M, Amodio J, Greco M. Giant cell tumor of soft tissue with pulmonary metastases: pathologic and cytogenetic study. Pediatr Dev Pathol. 2005;8:718-24 pubmed..We report the case of a 12-year-old girl with GCTST of the right leg that metastasized to the lung. Cytogenetic studies from the primary tumor showed the phenomenon of telomeric association involving multiple chromosomes...
- Barchi M, Roig I, Di Giacomo M, de Rooij D, Keeney S, Jasin M. ATM promotes the obligate XY crossover and both crossover control and chromosome axis integrity on autosomes. PLoS Genet. 2008;4:e1000076 pubmed publisher..Together, these findings indicate that ATM plays a role in both crossover control and chromosome axis integrity and further suggests that ATM is important for coordinating these features of meiotic chromosome dynamics. ..
- Tosello V, Mansour M, Barnes K, Paganin M, Sulis M, Jenkinson S, et al. WT1 mutations in T-ALL. Blood. 2009;114:1038-45 pubmed publisher..Survival analysis demonstrated that WT1 mutations do not confer adverse prognosis in pediatric and adult T-ALL. Overall, these results identify the presence of WT1 mutations as a recurrent genetic alteration in T-ALL. ..
- Marrero V, Symington L. Extensive DNA end processing by exo1 and sgs1 inhibits break-induced replication. PLoS Genet. 2010;6:e1001007 pubmed publisher..The rare chromosome rearrangements due to BIR template switching at repeated sequences were increased in the exo1Delta sgs1Delta mutant, suggesting that reduced resection can decrease the fidelity of homologous recombination. ..
- Rapaport F, Leslie C. Determining frequent patterns of copy number alterations in cancer. PLoS ONE. 2010;5:e12028 pubmed publisher..We also found additional significant CNAs missed by the original analysis but supported by earlier studies, and we identified significant correlations between CNAs. ..
- Chiaur D, Murthy S, Cenciarelli C, Parks W, Loda M, Inghirami G, et al. Five human genes encoding F-box proteins: chromosome mapping and analysis in human tumors. Cytogenet Cell Genet. 2000;88:255-8 pubmed..This is the first evaluation of genes encoding Fbps in human tumors. ..
- Zhou H, Suzuki M, Randers Pehrson G, Vannais D, Chen G, Trosko J, et al. Radiation risk to low fluences of alpha particles may be greater than we thought. Proc Natl Acad Sci U S A. 2001;98:14410-5 pubmed
- Bacolod M, Barany F. Gene dysregulations driven by somatic copy number aberrations-biological and clinical implications in colon tumors: a paper from the 2009 William Beaumont Hospital Symposium on Molecular Pathology. J Mol Diagn. 2010;12:552-61 pubmed publisher..Within 18q is ATP5A1, which codes for the catalytic a component of mitochondrial H(+)-ATP synthase. Like SMAD4 (also in 18q), the decreased expression of ATP5A1 appears to be a marker of unfavorable clinical outcome in CRCs. ..
- Tice R. The cytogenetic evaluation of in vivo genotoxic and cytotoxic activity using rodent somatic cells. Cell Biol Toxicol. 1988;4:475-86 pubmed
- Salman M, Jhanwar S, Ostrer H. Will the new cytogenetics replace the old cytogenetics?. Clin Genet. 2004;66:265-75 pubmed..However, as with any new technology, it needs to be validated with regard to its performance in various applications (e.g. clinical genetic testing and cancer applications), comparative cost, and the data interpretation. ..
- Li H, Balajee A, Su T, Cen B, Hei T, Weinstein I. The HINT1 tumor suppressor regulates both gamma-H2AX and ATM in response to DNA damage. J Cell Biol. 2008;183:253-65 pubmed publisher..Our findings suggest that the tumor suppressor function of HINT1 is caused by, at least in part, its normal role in enhancing cellular responses to DNA damage by regulating the functions of both gamma-H2AX and ATM. ..
- Chen X, Yu K, Tong G, Hood M, Storper I, Hamele Bena D. Fine needle aspiration of pleomorphic lipoma of the neck: report of two cases. Diagn Cytopathol. 2010;38:184-7 pubmed publisher..Here, we report two cases of pleomorphic lipoma, the diagnoses of which were suggested on fine needle aspiration biopsies and subsequently confirmed by surgical excisions...
- De Keersmaecker K, Real P, Gatta G, Palomero T, Sulis M, Tosello V, et al. The TLX1 oncogene drives aneuploidy in T cell transformation. Nat Med. 2010;16:1321-7 pubmed publisher..These results identify a previously unrecognized mechanism contributing to chromosomal missegregation and aneuploidy active at the earliest stages of tumor development in the pathogenesis of cancer. ..
- Abdel Wahab O, Figueroa M. Interpreting new molecular genetics in myelodysplastic syndromes. Hematology Am Soc Hematol Educ Program. 2012;2012:56-64 pubmed publisher..Finally, mutations in mRNA splicing genes have also been described recently in MDS, underscoring the molecular complexity that underlies the development of this heterogeneous disease...
- Shen M. Chromoplexy: a new category of complex rearrangements in the cancer genome. Cancer Cell. 2013;23:567-9 pubmed publisher..This phenomenon of chromoplexy may define cancer subtypes and drive punctuated tumor evolution. ..
- Cunningham Rundles C. Genetic aspects of immunoglobulin A deficiency. Adv Hum Genet. 1990;19:235-66 pubmed..While many individuals with these supratypes are not IgA deficient, these findings encourage the notion that the secretion of IgA could be at least partly controlled by genes residing in the major histocompatibility locus. ..
- van Steensel B, Smogorzewska A, de Lange T. TRF2 protects human telomeres from end-to-end fusions. Cell. 1998;92:401-13 pubmed..The results raise the possibility that chromosome end fusions and senescence in primary human cells may be caused by loss by TRF2 from shortened telomeres. ..
- Michel L, Liberal V, Chatterjee A, Kirchwegger R, Pasche B, Gerald W, et al. MAD2 haplo-insufficiency causes premature anaphase and chromosome instability in mammalian cells. Nature. 2001;409:355-9 pubmed..Furthermore, Mad2+/- mice develop lung tumours at high rates after long latencies, implicating defects in the mitotic checkpoint in tumorigenesis. ..
- Zhang Y, Wen G, Shao G, Wang C, Lin C, Fang H, et al. TGFBI deficiency predisposes mice to spontaneous tumor development. Cancer Res. 2009;69:37-44 pubmed publisher..Cyclin D1 up-regulation was also identified in most of the tumors arising from TGFBI(-/-) mice. Our studies provide the first evidence that TGFBI functions as a tumor suppressor in vivo. ..
- Sanchez Garcia F, Akavia U, Mozes E, PE ER D. JISTIC: identification of significant targets in cancer. BMC Bioinformatics. 2010;11:189 pubmed publisher..The software and documentation are freely available and can be found at: http://www.c2b2.columbia.edu/danapeerlab/html/software.html. ..
- Karayiorgou M, Simon T, Gogos J. 22q11.2 microdeletions: linking DNA structural variation to brain dysfunction and schizophrenia. Nat Rev Neurosci. 2010;11:402-16 pubmed publisher..In addition to offering a deeper understanding of the effects of this genetic lesion, these findings may guide analysis of other copy-number variants associated with cognitive dysfunction and psychiatric disorders. ..