Results 51 to 60 of about 299,286 (332)

A Classic Case of Maple Syrup Urine Disease and a Novel Mutation in the BCKDHA Gene [PDF]

Iranian Journal of Neonatology, 2017
Background: Maple syrup urine disease (MSUD) is an inherited branched-chain amino acid metabolic disorder caused by the deficiency in the branched-chain alpha-keto acid dehydrogenase (BCKD) complex.
Alieh Mirzaee, Narges Pishva, Zohreh Karamizadeh, Jurgen Kohlhase, Shahnaz Purarian, Fariba Hemmati, Mostajab Razavi, Shiva Nasirabadi   +7 more
doaj   +1 more source

A System for the Analysis of Yeast Ribosomal DNA Mutations [PDF]

Molecular and Cellular Biology, 1989
To develop a system for the analysis of eucaryotic ribosomal DNA (rDNA) mutations, we cloned a complete, transcriptionally active rDNA unit from the yeast Saccharomyces cerevisiae on a centromere-containing yeast plasmid. To distinguish the plasmid-derived ribosomal transcripts from those encoded by the rDNA locus, we inserted a tag of 18 base pairs ...
W, Musters, J, Venema, G, van der Linden, H, van Heerikhuizen, J, Klootwijk, R J, Planta   +5 more
openaire   +2 more sources

Mapping the evolution of mitochondrial complex I through structural variation

FEBS Letters, EarlyView.
Respiratory complex I (CI) is crucial for bioenergetic metabolism in many prokaryotes and eukaryotes. It is composed of a conserved set of core subunits and additional accessory subunits that vary depending on the organism. Here, we categorize CI subunits from available structures to map the evolution of CI across eukaryotes. Respiratory complex I (CI)
Dong‐Woo Shin, Tingting Chen, James A. Letts   +2 more
wiley   +1 more source

Adaptation to high ethanol reveals complex evolutionary pathways [PDF]

, 2015
Tolerance to high levels of ethanol is an ecologically and industrially relevant phenotype of microbes, but the molecular mechanisms underlying this complex trait remain largely unknown.
Arslan, Ahmed, Das, Anupam, De Maeyer, Dries, DeLuna, Alexander, Espinosa-Cantú, Adriana, Jelier, Rob, Kominek, Jacek, Marchal, Kathleen, Meert, Wim, van der Zande, Elisa, Van Noort, Vera, Van Pee, Michiel, Verstrepen, Kevin J, Voordeckers, Karin, Yang, Yudi, Zhu, Bp   +15 more
core   +10 more sources

Mechanism underlying synergic activation of Tyrosinase promoter by MITF and IRF4 [PDF]

, 2017
Background: The transcription factor interferon regulatory factor 4 (IRF4) was identified to be involved in human pigmentation by genome-wide association studies (GWASs).
Cai, Xinzhang, Chen, Hongsheng, Feng, Yong, He, Chufeng, Li, Jiada, Liu, Huadie, Liu, Xueming, Liu, Yalan, Mei, Lingyun, Peng, Zhen, Song, Jian, Vleminckx, Kris   +11 more
core   +1 more source

Somatic mutations render human exome and pathogen DNA more similar

, 2019
Immunotherapy has recently shown important clinical successes in a substantial number of oncology indications. Additionally, the tumor somatic mutation load has been shown to associate with response to these therapeutic agents, and specific mutational ...
Cristescu, Razvan, Ebrahimzadeh, Ehsan, Engler, Maggie, Tchamkerten, Aslan, Tse, David   +4 more
core   +1 more source

Estimating translational selection in Eukaryotic Genomes [PDF]

, 2009
Natural selection on codon usage is a pervasive force that acts on a large variety of prokaryotic and eukaryotic genomes. Despite this, obtaining reliable estimates of selection on codon usage has proved complicated, perhaps due to the fact that the ...
Adams, Akashi, Akashi, Akashi, Akashi, Akashi, Akashi, Bennetzen, Birdsell, Bulmer, Bulmer, Chamary, Coghlan, Comeron, Cutter, dos Reis, Duret, Eyre-Walker, Eyre-Walker, Friedman, Harpending, Hartl, Holstege, Ikemura, Ikemura, Kanaya, Koonin, L. Wernisch, Lafay, Lander, Lowe, Lynch, M. dos Reis, Maside, Percudani, Reis, Sharp, Sharp, Sharp, Sherry, The C. elegans Sequencing Consortium, Urrutia, Wang, Wright   +43 more
core   +2 more sources

Analysis of core mutation and TET2/ASXL1 mutations DNA methylation profile in myelodysplastic syndrome

Hematology, 2023
The study aims to analyze genetic mutation and clinical characteristics and study their correlation with survival prognosis of patients with myelodysplastic syndromes (MDS). Moreover, the differential DNA methylation profiles between TET2 mutated (Mut)/ASXL1 wild-type (WT) and TET2-Mut/ASXL1-Mut MDS samples were investigated to explore the mechanism of
Yue Feng, Haiping Liang, Xingchun Luo, Yu Zhu, Bei Liu, Meining Han   +5 more
openaire   +3 more sources

Organoids in pediatric cancer research

FEBS Letters, EarlyView.
Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley   +1 more source

Genome-Wide Mutational Signature of the Chemotherapeutic Agent Mitomycin C in Caenorhabditis elegans

G3: Genes, Genomes, Genetics, 2016
Cancer therapy largely depends on chemotherapeutic agents that generate DNA lesions. However, our understanding of the nature of the resulting lesions as well as the mutational profiles of these chemotherapeutic agents is limited.
Annie S. Tam, Jeffrey S.C. Chu, Ann M. Rose   +2 more
doaj   +1 more source