Results 71 to 80 of about 90,557 (301)

Mutations of the p53 gene in canine lymphoma and evidence for germ line p53 mutations in the dog [PDF]

Oncogene, 1998
Mutations of the p53 gene are associated with a number of non-lymphoid cancers of the dog. The present study investigates the p53 gene status within canine patients treated for primary and secondary lymphoma. Three out of eight patients exhibited p53 gene mutations.
N, Veldhoen, J, Stewart, R, Brown, J, Milner   +3 more
openaire   +2 more sources

Paternal mosaicism proves the pathogenic nature of mutations in neutrophil elastase in severe congenital neutropenia

, 2002
Heterozygous mutations in neutrophil elastase have been detected in many sporadic cases of congenital neutropenia. However, a convincing pathogenetic mechanism has not been established, and it is unclear whether the effects of the mutant enzyme occur ...
Ancliff, PJ, Gale, RE, David C. Linch, Rosemary E. Gale, Ri Liesner, Phil J. Ancliff, Ian M. Hann, Strobel, S, Liesner, R, Hann, IM, Watts, MJ, Michael J. Watts, Stephan Strobel, Linch, DC   +13 more
core   +1 more source

Integration of Spatiotemporal Multi‐Omics in Peach Fruit Unravels a Metabolic Niche and the Genetic Basis of Trichome‐Mediated Stress Adaptation

Advanced Science, EarlyView.
This study constructed the first spatiotemporal multi‐omics map of peach fruit and discovered a key candidate gene that synergistically regulates trichome development and drought tolerance through the jasmonic acid signaling pathway, providing insights into the coupling mechanism between development and stress resistance.
Zhixin Liu, Ke Cao, Liping Guan, Aizhi Qin, Yong Li, Zihao Zhao, Yinpeng Zhang, Yaping Zhou, Lirong Wang, Xuwu Sun   +9 more
wiley   +1 more source

Generation of an induced pluripotent stem cell line MNDINSi001-A from a patient with neonatal diabetes caused by a heterozygous INS mutation

Stem Cell Research, 2020
Insulin gene (INS) mutations prove to be the second most common cause of permanent neonatal diabetes. Here, we report the generation of iPSC line from a patient, heterozygous for the intronic INS mutation that presumably leads to aberrant splicing ...
Alexandra V. Panova, Natalia V. Klementieva, Anna V. Sycheva, Daria V. Goliusova, Nikolay V. Khokhlov, Natalia A. Zubkova, Anatoly N. Tiulpakov, Sergey L. Kiselev   +7 more
doaj   +1 more source

Revertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation [PDF]

Journal of Clinical Investigation, 1999
Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of
T N, Darling, C, Yee, J W, Bauer, H, Hintner, K B, Yancey   +4 more
openaire   +2 more sources

Recurrence of Marfan Syndrome as a Result of Parental Germ-Line Mosaicism for an FBN1 Mutation

, 1999
SummaryMutations in the FBN1 gene cause Marfan syndrome (MFS), a dominantly inherited connective tissue disease. Almost all the identified FBN1mutations have been family specific, and the rate of new mutations is high.
Lukka, Matti, Syvänen, Ann-Christine, Peltonen, Leena, Rantamäki, Terhi, Kaitila, Ilkka   +4 more
core   +1 more source

Redox‐Dependent Chaperoning of GBF1 Condensates Regulates Seed Germination in Arabidopsis

Advanced Science, EarlyView.
In dormant seeds (low ROS), GBF1 forms liquid condensates to repress the germination gene CathB3, and the chaperone GIP1 maintains condensate liquidity and repressive activity. Upon imbibition (high ROS), ROS oxidize GIP1 during germination, impairing its chaperone function.
Yunying Wang, Xiaofeng Fang
wiley   +1 more source

Natural Variation of NAR5 Determines Nitrogenase Activity and the Yield in Soybean

Advanced Science, EarlyView.
This study identified NAR5, a gene encoding a subtilisin‐like protease, that regulates nitrogenase activity in soybean nodules. Overexpressing NAR5 delayed nodule senescence, enhancing nitrogenase activity, yield, and low‐nitrogen tolerance. The elite haplotype NAR5HapI‐1 linked to superior nitrogenase activity and greater seed weight has been ...
Chao Ma, Hanyu Zhao, Haojie Feng, Xulun Dong, Lin Chen, Mingliang Yang, Runyi Chen, Chengjun Lei, Chunyan Liu, Qingshan Chen, Dawei Xin, Jinhui Wang   +11 more
wiley   +1 more source

β‐Elemene Rescues Radiation‐Induced Enteritis by Orchestrating a Host‐Microbiome Circuit That Fuels Epigenetic DNA Repair

Advanced Science, EarlyView.
This study elucidates that β‐elemene promotes cellular uptake of L. gasseri‐derived lactate by enhancing the membrane translocation of MCT1 in a CD147‐dependent manner. Intracellular lactate, through the lactylation of RBBP4 at the K26 site, recruits EP300 to the promoter regions of downstream genes (POLD1/POLD3), catalyzing H3K27ac modification.
Jiancheng He, Jiapeng Bao, Shukang Deng, Weijie Zang, Haoming Yan, Zihao Zhao, Guangze Zhang, Ruiqing Liu, Junjie Chen, Yilin Hu, Wanjiang Xue   +10 more
wiley   +1 more source

Generation of an induced pluripotent stem cell (iPSC) line (THSJTUi001-A) from a Wilson's disease patient harboring a homozygous Arg778Leu mutation in ATP7B gene

Stem Cell Research, 2020
Induced pluripotent stem cell (iPSC) line, THSJTUi001-A, was generated from a 26-year-old Chinese male patient with Wilson's disease carrying a homozygous Arg778Leu mutation in ATP7B gene, using non-integrated episomal reprogramming vectors.
Shu-Hong Wang, Xiao-Ping Wang
doaj   +1 more source