Results 151 to 160 of about 3,861,183 (367)

Structure of Chromosomal Duplicons and their Role in Mediating Human Genomic Disorders [PDF]

, 2000
Yonggang Ji, Evan E. Eichler, Stuart Schwartz, Robert D. Nicholls   +3 more
openalex   +1 more source

Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders.

Molecular human reproduction, 1999
Barbara Pertl, Doris Pieber, Astrid Lercher-Hartlieb, Irmgard Orescovic, Martin C.H. Haeusler, Raimund Winter, P. Kroisel, Matteo Adinolfi   +7 more
semanticscholar   +1 more source

Molecular genetic analysis for malignant hyperthermia : a thesis presented to Massey University in partial fulfilment of the requirements for the degree of Master of Science in Biochemistry [PDF]

, 2004
Malignant hyperthermia (MH) is a rare pharmacogenetic disorder in humans caused by inhalational general anaesthetics and depolarising muscle relaxants. An MH reaction shows abnormal calcium homeostasis in skeletal muscle leading to a hypermetabolic state
Sato, Keisaku
core  

Super‐Resolution Compatible DNA Labeling Technique Reveals Chromatin Mobility and Organization Changes During Differentiation

Advanced Science, EarlyView.
A novel chromatin‐labeling probe is developed to investigate chromatin mobility during differentiation. The silicon rhodamine–conjugated dCTP is efficiently delivered into iPSCs and NSCs using a synthetic transporter. Super‐resolution microscopy and single‐particle tracking show decreased chromatin mobility during differentiation.
Maruthi K. Pabba, Miroslav Kuba, Tomáš Kraus, Kerem Celikay, Janis Meyer, Sunil Kumar Pradhan, Andreas Maiser, Hartmann Harz, Heinrich Leonhardt, Karl Rohr, Michal Hocek, M. Cristina Cardoso   +11 more
wiley   +1 more source

Nanocatalytic Neuroprotection and Neurological Recovery Post‐Traumatic Brain Injury

Advanced Science, EarlyView.
This study demonstrates that combining Ce0.7Zr0.3O2 nanozymes with nimodipine enhances neuroprotection after traumatic brain injury. The therapy reduces oxidative stress, neuronal apoptosis, and improves blood–brain barrier integrity, with nanozymes effective at low doses.
Xinjie Hong, Liang Zhao, Xianzheng Sang, Chao Ma, Meiqi Chang, Xinran Song, Wei Feng, Tao Xu, Li Ding, Yu Chen, Lijun Hou   +10 more
wiley   +1 more source

CHROMOSOME STUDIES IN HUMAN CLINICAL DISORDERS

, 1964
Tetsuji KADOTANI
openalex   +2 more sources

Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY.

Developmental Disabilities Research Reviews, 2009
J. Visootsak, J. Graham
semanticscholar   +1 more source

Targeting RBM10‐Repressed RORB Activity in Liquid Condensates Inhibits Lysosomal Biogenesis and Neuroblastoma Progression via Affecting NF‐κB Signaling

Advanced Science, EarlyView.
This study identifies that RBM10 represses the transcriptional activity of RORB in liquid condensates, resulting in down‐regulation of NR1D1 and RIOK3 that further activates NF‐κB activity to facilitate lysosomal biogenesis and aggressive features of NB cells.
Yanhua Guo, Xiaojing Wang, Chunhui Yang, Zhijie Wang, Xiaolin Wang, Xinyue Li, Jiaying Qu, Shunchen Zhou, Liduan Zheng, Qiangsong Tong   +9 more
wiley   +1 more source

TWF2 Drives Tumor Progression and Sunitinib Resistance in Renal Cell Carcinoma through Hippo Signaling Suppression

Advanced Science, EarlyView.
Twinfilin actin‐binding protein (TWF2) is upregulated in sunitinib‐resistant renal cell carcinoma (RCC) cells, where it interacts with YAP and protects YAP from degradation. Stabilized YAP translocates into the nucleus and activates transcription of target genes, promoting RCC progression and drug resistance.
Liangmin Fu, Wuyuan Liao, Youyan Tan, Hansen Lin, Kun Ye, Xinwei Zhou, Mingjie Lin, Kangbo Huang, Minyu Chen, Jietao Wei, Haoqian Feng, Yuhang Chen, Jinwei Chen, Bohong Guan, Shan Li, Zhengkun Zhang, Anze Yu, Zihao Feng, Lizhen Zhang, Guannan Shu, Jun Lu, Wei Chen, Yihui Pan, Jiefeng Yang, Junhang Luo, Li Luo   +25 more
wiley   +1 more source

Book Review: The Chromosome Disorders [PDF]

Proceedings of the Royal Society of Medicine, 1966
openaire   +3 more sources