Results 201 to 210 of about 774,968 (312)

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

, 2021
Jin A Jang, Young Bae Sohn, Jang Hoon Lee, Moon Sung Park   +3 more
openalex   +2 more sources

Noninvasive detection of a balanced fetal translocation from maternal plasma.

Clinical Chemistry, 2014
T. Jensen, Sung K. Kim, D. van den Boom, Cosmin Deciu, M. Ehrich   +4 more
semanticscholar   +1 more source

Disruption of NF‐κB‐Mediated Copper Homeostasis Sensitizes Breast Cancer to Cuproptosis

Advanced Science, EarlyView.
This study reveals a feedback mechanism regulating copper homeostasis, in which copper directly interacts with TAK1 to activate NF‐κB signaling, while NF‐κB transcriptionally suppresses copper transporter (CTR1) expression. These findings highlight a promising therapeutic strategy for breast cancer by combining NF‐κB inhibitors with copper chelators or
Xiaomei Zhang, Yaqing Su, Weixiong Yang, Zimin Song, Zicheng Sun, Xueji Wu, Jianwen Chen, Bing Gao, Zekang Wang, Lei Wang, Qiwei Jiang, Lang Bu, Jingting Li, Ying Lin, Wei Xie, Jie Li, Jianping Guo   +16 more
wiley   +1 more source

Disruption of the ATP8A2 gene in a patient with a t(10;13) de novo balanced translocation and a severe neurological phenotype

European Journal of Human Genetics, 2010
Pierre Cacciagli, M. Haddad, Cécile Mignon‐Ravix, Bilal El-Waly, A. Moncla, C. Missirian, B. Chabrol, L. Villard   +7 more
semanticscholar   +1 more source

Mechanical Cues Regulate Cargo Sorting and Export at the Golgi

Advanced Science, EarlyView.
A pathway is identified linking extracellular matrix stiffness to secretion via Src–FAK–AMPK–GBF1 signaling. Golgi‐localized GBF1 acts as a mechanotransducer whose phosphorylation controls post‐Golgi cargo sorting toward secretion or lysosomal degradation.
Greta Serafino, Stefania Forciniti, Edoardo Scarpa, Antonio Ranieri, Lucia Santorelli, Gabriella De Blasi, Sara Costantini, Eunjoo Jun Lee, Antonio Galeone, Alessia Calcagnì, Marinella Pirozzi, Loretta L. del Mercato, Rossella Venditti, Giovanni D'Angelo, Seetharaman Parashuraman, Tiziano Verri, Giuseppe Gigli, Elizabeth S. Sztul, Paolo Grumati, Loris Rizzello, Domenico Russo, Riccardo Rizzo   +21 more
wiley   +1 more source

Prenatal diagnosis of balanced translocation from three families: Six case reports. [PDF]

World J Clin Cases
Kan X, Xie YX, Yao L, Wang LY, Xia YX, Sun JQ, Bian ML, Yu L, Lu YL.   +8 more
europepmc   +1 more source

Regulating PPARG Reduces Lipid Accumulation in Microglia and Promotes Functional Recovery After Spinal Cord Injury

Advanced Science, EarlyView.
Macrophages infiltrate the spinal cord post‐injury, decreasing over time. Microglia phagocytose myelin debris, increasing lipid accumulation. Macrophage deletion improves outcomes, while microglial deletion worsens them. The LD+ microglia subtype shows abnormal Pparg signaling.
Mingran Luo, Jiayun Liu, Yunxin Su, Tao Jiang, Xincan Wu, Peng Gao, Tao Qin, Mengyuan Wu, Qingqing Li, Shujun Zhang, Baorong He, Yongxiang Wang, Xiaodong Guo, Wei Zhou, Shujie Zhao, Jin Fan, Jian Chen, Guoyong Yin   +17 more
wiley   +1 more source

C-banding in sheep with balanced homolog interchromosomal translocation

Genetics Selection Evolution, 1977
Glahn-Luft B, Wassmuth R
doaj   +1 more source

Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring. [PDF]

Front Genet
Zhao J, Chen P, Ren Y, Li S, Zhang W, Li Y, Wang F.   +6 more
europepmc   +1 more source

Fetus of 8q22.2q24.3 duplication and 13q33.2q34 deletion derived from a maternal balanced translocation. [PDF]

J Obstet Gynaecol Res, 2020
Liu T, Xie H, Zhang J, Wang X, Sha J, Zhai J.   +5 more
europepmc   +1 more source