Results 41 to 50 of about 91,099 (345)

Familial Adenomatous Polyposis: Analysis of Genetic Instability of Microsatellites Loci and Genetic Alternations of Tumor Suppressor Genes

Biomolecules & Biomedicine, 2008
Familial adenomatous polyposis (FAP) is an autosomal dominant illness with the highest risk for appearance of colorectal cancer’s disease. In our study, we have used Bethesda criteria that define colorectal cancers which can be tested on microsatellite ...
Vesna Hadžiavdić, Izet Eminović, Mensura Aščerić, Radovan Komel   +3 more
doaj   +1 more source

Loss of heterozygosity drives clonal diversity of Phytophthora capsici in China. [PDF]

PLoS ONE, 2013
Phytophthora capsici causes significant loss to pepper (Capsicum annum) in China and our goal was to develop single nucleotide polymorphism (SNP) markers for P. capsici and characterize genetic diversity nationwide. Eighteen isolates of P.
Jian Hu, Yongzhao Diao, Yuxin Zhou, Dong Lin, Yang Bi, Zhili Pang, Rebecca Trout Fryxell, Xili Liu, Kurt Lamour   +8 more
doaj   +1 more source

Characterization of phenotypic variation and genome aberrations observed among Phytophthora ramorum isolates from diverse hosts

BMC Genomics, 2018
Background Accumulating evidence suggests that genome plasticity allows filamentous plant pathogens to adapt to changing environments. Recently, the generalist plant pathogen Phytophthora ramorum has been documented to undergo irreversible phenotypic ...
Marianne Elliott, Jennifer Yuzon, Mathu Malar C, Sucheta Tripathy, Mai Bui, Gary A. Chastagner, Katie Coats, David M. Rizzo, Matteo Garbelotto, Takao Kasuga   +9 more
doaj   +1 more source

Patterns of genomic loss of heterozygosity predict homologous recombination repair defects in epithelial ovarian cancer

British Journal of Cancer, 2012
Background:Defects in BRCA1, BRCA2, and other members of the homologous recombination pathway have potential therapeutic relevance when used to support agents that introduce or exploit double-stranded DNA breaks.
V. Abkevich, K. Timms, B. Hennessy, J. Potter, M. Carey, L. Meyer, K. Smith-McCune, R. Broaddus, K. Lu, Jian Chen, Thanh V Tran, Dominic P. Williams, D. Iliev, Srikanth Jammulapati, Lisa M. Fitzgerald, T. Krivak, J. Deloia, A. Gutin, G. Mills, J. Lanchbury   +19 more
semanticscholar   +1 more source

Ergothioneine supplementation improves pup phenotype and survival in a murine model of spinal muscular atrophy

FEBS Letters, EarlyView.
Spinal muscular atrophy (SMA) is a genetic disease affecting motor neurons. Individuals with SMA experience mitochondrial dysfunction and oxidative stress. The aim of the study was to investigate the effect of an antioxidant and neuroprotective substance, ergothioneine (ERGO), on an SMNΔ7 mouse model of SMA.
Francesca Cadile, Daniela Ratto, Giorgia Rastelli, Ottavia Eleonora Ferraro, Caterina Temporini, Sunil Kumar, Simona Boncompagni, Paola Rossi, Monica Canepari   +8 more
wiley   +1 more source

M6P/IGF2R loss of heterozygosity in head and neck cancer associated with poor patient prognosis

BMC Cancer, 2003
Background The mannose 6-phosphate/insulin-like growth factor 2 receptor (M6P/IGF2R) encodes for a multifunctional receptor involved in lysosomal enzyme trafficking, fetal organogenesis, cytotoxic T cell-induced apoptosis and tumor suppression.
Jang Hong-Seok, Oka Yoshihiko, Killian J Keith, Brizel David M, Jamieson Timothy A, Fu Xiaolong, Clough Robert W, Vollmer Robin T, Anscher Mitchell S, Jirtle Randy L   +9 more
doaj   +1 more source

ACSS2 involved in acetyl‐CoA synthesis regulates skeletal muscle function

FEBS Letters, EarlyView.
The enzyme acyl‐coenzyme A synthetase short‐chain family member‐2 (ACSS2) catalyzes the conversion of acetate to acetyl‐CoA, but its function in skeletal muscle is unclear. We studied ACSS2 deficiency in mouse and fly models. Skeletal muscle from the mouse model showed atrophic fibers, excess lipid, and depleted NADH.
Mekala Gunasekaran, Gloriana Campos, Natalya M. Wells, Khanhlinh Lambuu, Isabelle Draper, Christina A. Pacak, Peter B. Kang   +6 more
wiley   +1 more source

A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue

BioTechniques, 2014
When studying mutations in DNA samples, determining whether novel sequence changes are somatic mutations or germline polymorphisms can be difficult. Here we describe a novel and very simple approach for identification of somatic mutations and loss of ...
Ignacio Erquiaga, Cristina Hurtado, Paula Aranaz, Francisco J. Novo, José L. Vizmanos   +4 more
doaj   +1 more source

No Haploinsufficiency but Loss of Heterozygosity for EXT in Multiple Osteochondromas [PDF]

The American Journal of Pathology, 2010
Multiple osteochondromas (MO) is an autosomal dominant disorder caused by germline mutations in EXT1 and/or EXT2. In contrast, solitary osteochondroma (SO) is nonhereditary. Products of the EXT gene are involved in heparan sulfate (HS) biosynthesis. In this study, we investigated whether osteochondromas arise via either loss of heterozygosity (2 hits ...
Reijnders, C.M.A., Waaijer, C.J.F., Hamilton, A., Buddingh, E.P., Dijkstra, S.P.D., Ham, J., Bakker, E., Szuhai, K., Karperien, M., Hogendoorn, P.C.W., Stringer, S.E., Bovee, J.V.M.G.   +11 more
openaire   +5 more sources

RAD50 missense variants differentially affect the DNA damage response and mitotic progression

FEBS Letters, EarlyView.
RAD50 incorporates into the MRN complex and initiates the DNA damage response. Furthermore, RAD50 promotes mitotic progression. RAD50 missense variants capable of forming an MRN complex supported the DNA damage response and mitotic features to different extents in complementation experiments, indicating these functions are separable and might impact ...
Hanna Redeker, Swantje Kebel, Lea Völkening, Anna Vatselia, Louisa Weinhold, Girmay Asgedom, Axel Schambach, Detlev Schindler, Thilo Dörk, Kristine Bousset   +9 more
wiley   +1 more source