Results 101 to 110 of about 19,235 (265)

Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene [PDF]

, 2004
David B. Savage, Ian G. McFarlane, Inês Barroso, Maria A. Soos, Andrew Powlson, E. Louise Thomas, Jimmy D. Bell, Ian N. Scobie, P E Belchetz, William F. Kelly, David Halsall, Alan J. Schafer, Stephen O’Rahilly   +12 more
openalex   +1 more source

DEL‐1 is an Endogenous Senolytic Protein that Inhibits Senescence‐Associated Bone Loss

Advanced Science, EarlyView.
Senescent bone marrow stromal cells accumulate in the aging bone microenvironment, promoting bone degeneration. DEL‐1, an endogenous secreted protein, acts as a natural senolytic that selectively eliminates these cells. By engaging a β3 integrin/CD73/adenosine/p38 MAPK/BCL‐2 pathway, DEL‐1 counters aging‐related bone loss, revealing promising ...
Jong‐Hyung Lim, Kridtapat Sirisereephap, Hui Wang, Giulia Trimaglio, Kyoung‐Jin Chung, Jonathan Korostoff, Tetsuhiro Kajikawa, Xiaofei Li, Meircurius D.C. Surboyo, Tomoki Maekawa, Triantafyllos Chavakis, George Hajishengallis   +11 more
wiley   +1 more source

Factor VII Deficiency Due to Compound Heterozygosity for the p.Leu13Pro Mutation and a Novel Mutation in the HNF4 Binding Region (−58G>C) in the <i>F7</i> Promoter

, 2020
Koichi Osaki, Yoko Sogabe, Ritsuko Seki, Takayuki Nakamura, Satoshi Morishige, Eijiro Oku, Yuka Takata, Fumihiko Mouri, Koji Yoshimoto, Koji Nagafuji, Takashi Okamura   +10 more
openalex   +2 more sources

Novel compound VHL heterozygosity (VHL T124A/L188V) associated with congenital polycythaemia [PDF]

, 2013
Felipe Lorenzo, Chunzhang Yang, Lucie Lanikova, Linda Butros, Zhengping Zhuang, Josef T. Prchal   +5 more
openalex   +1 more source

Discovery of a Novel and Potent Kir4.1 Inhibitor as a Safe and Rapid‐Onset Antidepressant Agent in Mice

Advanced Science, EarlyView.
The preferred derivative JX3212 demonstrates strong inhibitory activity against Kir4.1 with favorable druggability and shows significant antidepressant efficacy in vivo. Abstract Major depressive disorder is a serious psychiatric disorder for which novel and fast‐acting antidepressants are required.
Sisi Wang, Xiaoyu Zhou, Mengdan Li, Chao Zhang, Haiyan Xu, Jingyi He, Li Zhan, Yueling Gu, Hao Gu, Tianyu Tu, Hanfang Liu, Taotao Lu, Yueming Zheng, Jian Li, Zhaobing Gao, Yixiang Xu   +15 more
wiley   +1 more source

PARPi Combining Nanoparticle LIN28B siRNA for the Management of Malignant Ascites

Advanced Science, EarlyView.
This study demonstrates that co‐inhibition of LIN28B and PARP using siLin28b/DSSP@lip‐PEG‐FA nanoparticles in combination with the PARP inhibitor BMN673 effectively suppresses the accumulation of malignant ascites associated with advanced cancers.
Yan Fang, Qian Shen, Yao Lin, Jing Zhu, Xiaolan Zhu, Rui Huang, Yijia Wu, Feiyang Shen, Qian Li, Guopei Zheng, Zhe Zhang, Qian Chu, Junhao Hu, Jianfeng Shen   +13 more
wiley   +1 more source

Double heterozygosity of the thalassemic mutations term. Cd +6 C→G and IVS-I-110 in a Greek woman: A case presentation

Turkish Journal of Hematology, 2011
Stamatia Theodoridou, Vasilios Perifanis, Stella Kotsiopoulou, Olga Karakasidou, Vasiliki Aletra, Michael Alemayehou   +5 more
doaj   +1 more source

p16Ink4a‐Positive Hepatocytes Drive Liver Fibrosis Through Activation of LIFR Family Pathway

Advanced Science, EarlyView.
This study found that, following the long‐term CCl4 treatment, p16high hepatocytes appeared in zone 3, spatially co‐localizing with fibrotic areas. A specific cluster of p16high hepatocytes upregulated CTF1/LIF expression which induced HSC activation and further liver fibrosis, as revealed by single cell transcriptomic analysis.
Koji Nishikawa, Teh‐Wei Wang, Satoshi Kawakami, Shota Tanimoto, Kiyoshi Yamaguchi, Taketomo Kido, Masamichi Kimura, Tsunekazu Hishima, Yuki T. Okamura, Satotaka Omori, Takumi Iritani, Toshikaze Chiba, Takehiro Jimbo, Michio Katano, Kansuporn Kamataki, Ryoichi Yokoyama, Eigo Shimizu, Kiminori Kimura, Satoshi Yamzaki, Seiya Imoto, Yoichi Furukawa, Atsushi Miyajima, Yoshikazu Johmura, Makoto Nakanishi   +23 more
wiley   +1 more source

CD168 Identifies Proliferating Pancreatic Islet Cells in Murine and Human

Advanced Science, EarlyView.
This study identifies CD168 as a conserved surface marker for proliferating β‐cells in mouse, human islets, and pancreatic islet tumors. CD168⁺ cells show high proliferation and low insulin expression. CD168+ cells form mostly uni‐β lineage clones, and some of the clones are multi‐lineage.
Shubo Yuan, Jiafu Li, Min Shao, Haili Bao, Ajun Geng, Jialin Yang, Yu Tao, Xinyi Chen, Tianxiong Xiao, Chunye Liu, Zhiyao Xie, Wenqian Song, Qing Cissy Yu, Hongxing Fu, Xu Han, Taochen He, Wenquan Wang, Jianfeng Chen, Sheng Yan, Shaohua Song, Liang Liu, Yi Arial Zeng   +21 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source