Results 81 to 90 of about 173,415,106 (290)

Homozygosity and risk of childhood death due to invasive bacterial disease. [PDF]

, 2009
BACKGROUND: Genetic heterozygosity is increasingly being shown to be a key predictor of fitness in natural populations, both through inbreeding depression, inbred individuals having low heterozygosity, and also through chance linkage between a marker and
Adrian VS Hill, Berkley James A, Hill, AVS, William Amos, Peshu, N, Mwangi, I, Williams, TN, James A Berkley, Lyons Emily J, Marsh Kevin, Charles R Newton, Scott, JAG, Newton Charles R, Scott J Anthony G, Isaiah Mwangi, Kevin Marsh, J Anthony G Scott, Shafi, Mohammed, Berkley, James A, Mohammed Shafi, Berkley, JA, Norbert Peshu, Hill, Adrian VS, Emily J Lyons, Thomas N Williams, Newton, Charles R, Hill Adrian VS, Lyons, Emily J, Newton, CR, Peshu, Norbert, Shafi Mohammed, Marsh, K, Williams Thomas N, Peshu Norbert, Scott, J Anthony G, Lyons, EJ, Williams, Thomas N, Mwangi Isaiah, Amos, W, Amos William, Shafi, M, Amos, William, Mwangi, Isaiah, Marsh, Kevin   +43 more
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Phenomenon of loss of heterozygosity in tumour tissue of breast cancer: association with expression of monoresistance genes

Бюллетень сибирской медицины, 2018
Purpose of work. To perform a genome-wide association study of loss of heterozygosity (LOH) with monoresistance genes expression during neoadjuvant chemotherapy (NAC) in breast cancer.Materials and methods.
M. M. Tsyganov, I. V. Deryusheva, E. Yu. Garbukov, M. K. Ibragimova, P. V. Kazantseva, V. A. Bychkov, E. M. Slonimskaya, N. V. Litviakov   +7 more
doaj   +1 more source

Loss Of Heterozygosity

, 2014
Author: Molecular Profiling Initiative, NCI *This method was successful in our lab using prostate tissue and for our specific objectives. Investigators must be aware that they will need to tailor the following protocol for their own research objectives and tissue under study*. This method is used to detect genomic DNA deletions in tumor cells.
openaire   +2 more sources

Unraveling 4‐Phenylbutyrate's Therapeutic Role in SLC6A1 Disorders: Pharmacochaperoning Over HDAC Inhibition

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Variants in SLC6A1, encoding the GABA transporter 1 (GAT‐1), cause epilepsy, autism spectrum disorder, and developmental delay via loss of GABA uptake, impaired trafficking, and ER retention. We previously found that 4‐Phenylbutyrate (PBA), an FDA‐approved drug, restores GABA uptake and reduces seizures in SLC6A1‐related disorders ...
Melissa B. DeLeeuw, Karishma Randhave, Ekta Anand, Ziang (Debbie) Song, Wangzhen Shen, Jing‐Qiong Kang   +5 more
wiley   +1 more source

Loss of Heterozygosity and DNA Aneuploidy in Colorectal Adenocarcinoma

, 2009
Background: This study evaluated the relationship between DNA aneuploidy and loss of heterozygosity (LOH) at different genetic loci in colorectal adenocarcinoma. methods: A total of 112 patients with surgically removed colorectal adenocarcinoma in Taipei
楊雅倩, Lin, Jen-Kou; Chang, Shih-Ching; Yang, Ya-Chien; Li, Anna Fen-Yau   +1 more
core  

Loss of Heterozygosity at the CYP2D6 Locus in Breast Cancer: Implications for Germline Pharmacogenetic Studies [PDF]

, 2015
Controversy exists regarding the impact of CYP2D6 genotype on tamoxifen responsiveness. We examined loss of heterozygosity (LOH) at the CYP2D6 locus and determined its impact on genotyping error when tumor tissue is used as a DNA ...
Kuffel, Mary J., Ratain, Mark J., Safgren, Stephanie L., Miller, Vincent A., Yelensky, Roman, Silva, Grace O., Sun, James X., Ames, Matthew M., Gonzalez-Angulo, Ana M., Suman, Vera J., Ingle, James N., Brauch, Hiltrud B., Burgues, Octavio, Ross, Jeffrey S., Gomez, Henry L., Goetz, Matthew P., Nakamura, Yusuke, Kalari, Krishna R., Cox, Nancy J., Chen, David, Stephens, Philip J., Perou, Charles M.   +21 more
core   +1 more source

Quantitative Expression of TEL in Childhood Acute Lymphoblastic Leukemia

The International Journal of Biological Markers, 2004
Loss of heterozygosity of chromosome 12p in human precursor B-cell ALL invariably results in loss of TEL coding sequences. Accompanied by a 12;21 translocation, such loss of heterozygosity ensures complete loss of the wild-type TEL.
G. Timson, M.I. Gutiérrez, K. Bhatia
doaj   +1 more source

Dual MGMT inactivation by promoter hypermethylation and loss of the long arm of chromosome 10 in glioblastoma

Cancer Medicine, 2020
Background Epigenetic inactivation of O6‐methylguanine‐methyltransferase (MGMT) gene by methylation of its promoter is predictive of Temozolomid (TMZ) response in glioblastoma (GBM).
Sophie Richard, Gaëlle Tachon, Serge Milin, Michel Wager, Lucie Karayan‐Tapon   +4 more
doaj   +1 more source

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Tumour Hypoxia Induces DNA Repair Vulnerabilities Through ‘Contextual Loss-Of-Heterozygosity’ [PDF]

, 2019
Intratumoural hypoxia leads to decreased expression in DNA damage response (DDR) and repair pathways. Given the ‘two-hit’ model for loss of gene function, we hypothesize that hypoxia-mediated down-regulation of gene expression and function, coupled with ...
Mahamud, Osman
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