Results 191 to 200 of about 774,968 (312)

A Novel SETBP1 Gene Disruption by a De Novo Balanced Translocation in a Patient with Speech Impairment, Intellectual, and Behavioral Disorder. [PDF]

J Pediatr Genet, 2022
Vrkić Boban I, Sekiguchi F, Lozić M, Miyake N, Matsumoto N, Lozić B.   +5 more
europepmc   +1 more source

Supplementary Material for: Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

, 2017
My Linh Thibodeau, Michelle Steinraths, Lindsay Brown, Zhiyong Zong, Naomi Shomer, Stefan Taubert, Karen Mungall, Yi Ma, R Mueller, İnanç Birol, A. Lehman   +10 more
openalex   +1 more source

Generation of two iPSC lines (KAUSTi001-A, KAUSTi002-A) from a rare high-grade Klinefelter Syndrome patient (49-XXXXY) carrying a balanced translocation t(4,11) (q35,q23)

, 2020
Maryam Alowaysi, Elisabetta Fiacco, Veronica Astro, Antonio Adamo   +3 more
openalex   +1 more source

Biosynthesis of H2S and Siderophores Targeting Gram‐Negative Bacterial Resistance to Reactive Oxygen Species

Advanced Science, EarlyView.
Discover how Gram‐negative bacteria develop resistance to reactive oxygen species, and how scientists aim to overcome this challenge. Abstract Reactive oxygen species (ROS) are a promising alternative bactericide. However, it is questioned that bacteria can potentially develop resistance to ROS, similar to their resistance against antibiotics and ...
Congyang Mao, Wanyu Jin, Yiming Xiang, Yizhou Zhu, Jun Wu, Xiangmei Liu, Shuilin Wu, Wei Qiao, Kenneth M. C. Cheung, Kelvin Wai Kwok Yeung   +9 more
wiley   +1 more source

Mortality and Cancer Incidence in Carriers of Balanced Robertsonian Translocations: A National Cohort Study [PDF]

, 2018
Minouk J. Schoemaker, Michael E. Jones, Craig Higgins, Alan F. Wright, Anthony J. Swerdlow   +4 more
openalex   +1 more source

Human balanced translocation and mouse gene inactivation implicate Basonuclin 2 in distal urethral development

European Journal of Human Genetics, 2011
Elizabeth J Bhoj, Purita Ramos, L. Baker, N. Cost, A. Nordenskjöld, F. Elder, S. Bleyl, N. Bowles, Cammon B. Arrington, B. Delhomme, A. Vanhoutteghem, P. Djian, A. Zinn   +12 more
semanticscholar   +1 more source

PSMD14‐Mediated LDHA Deubiquitination Upregulates ACLY Expression via H3K18 Lactylation to Promote Lipid Synthesis and Pancreatic Cancer Progression

Advanced Science, EarlyView.
This study investigates the expression and functional role of the deubiquitinase PSMD14 in PC, with a focus on the mechanism by which it promotes lactate accumulation–induced histone lactylation, thereby driving aberrant lipid metabolism. These findings establish that dual targeting of PSMD14 and the glycolysis–lactylation signaling axis may represent ...
Ri‐Shang Lu, Li‐Kun Ren, Xiao‐Bin Fei, Song‐Bai Liu, Yong‐Jia Gao, Jun‐Yi Hou, Chi Wang, Peng Liu, Chang‐Hao Zhu, Xing Wang, Yao‐Zhen Pan   +10 more
wiley   +1 more source

Using short read sequencing to characterise balanced reciprocal translocations in pigs [PDF]

, 2020
A.C. Bouwman, Martijn F. L. Derks, M. L. W. J. Broekhuijse, B. Harlizius, R.F. Veerkamp   +4 more
openalex   +1 more source

Onion‐Mitochondria Inhibit Lipopolysaccharide‐Induced Acute Lung Injury by Shaping Lung Macrophage Mitochondrial Function

Advanced Science, EarlyView.
Proposed model of orally administered onion mitochondria (O‐Mit) uptake by lung macrophages and fuse with macrophage mitochondria (M‐Mit). This fusion reprograms the metabolism of dysfunctional M‐Mit in lipopolysaccharide‐induced murine acute lung injury by modulating dynamin‐related protein 1 (DRP1) phosphorylation and cardiolipin peroxidation ...
Qingbo Xu, Yun Teng, Yinan Huang, Jingyao Mu, Lucy Teng, Hongjia Qian, Qiming Huang, Minmin Liu, Yi Zou, Lifeng Zhang, Michael L Merchant, Xiang Zhang, Jun Yan, Huang‐Ge Zhang   +13 more
wiley   +1 more source

Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia [PDF]

, 2002
Hirotake Sugawara
openalex   +1 more source