Results 261 to 270 of about 990,174 (349)

GATA4 Variants in Individuals With a 46,XY Disorder of Sex Development (DSD) May or May Not Be Associated With Cardiac Defects Depending on Second Hits in Other DSD Genes [PDF]

, 2018
Idoia Martinez de la Piscina, Carmen De Mingo, Stefan Riedl, Amaia Rodriguez, Amit V. Pandey, Mónica Fernández‐Cancio, Núria Camats, Andrew Sinclair, Luís Castaño, Laura Audí, Christa E. Flück   +10 more
openalex   +1 more source

PRMT3‐Mediated H4R3me2a Promotes Primary Age‐Related Tauopathy by Driving Tau Hyperphosphorylation in Neuron

Advanced Science, EarlyView.
This study identifies PRMT3‐mediated H4R3me2a as a critical driver of tau hyperphosphorylation in primary age‐related tauopathy. Mechanistic insights reveal that the PRMT3/H4R3me2a/miR‐448 axis suppresses IGF1R expression via epigenetic regulation, further dysregulating the PI3K/AKT/GSK3β pathway.
Haotian Liu, Xinnan Liu, Fengyuan Tian, Yashuang Chen, Jingying Li, Xue Wang, Wenying Qiu, Xia Wang, Chao Ma, Wei Ge   +9 more
wiley   +1 more source

46,XY disorders of sex development and muscular dystrophy caused by Xp21 duplication: a case report and literature review. [PDF]

Transl Pediatr
Zheng XQ, Zhou QL, Gu W.
europepmc   +1 more source

Born to Fear the Machine? Genetic and Environmental Influences on Negative Attitudes toward AI Agents

Advanced Science, EarlyView.
Why do some people fear or distrust AI agents more than others? This twin study shows that negative attitudes toward AI may partly stem from genetic factors, linking them to traits like victim sensitivity and moral beliefs. These findings show that it is not only nurture but also nature that shapes our views of AI, with implications for future human–AI
Xiaojiayu Tan, Yue He, Yuan Zhou, Xinying Li, Qingwen Ding, Yikai Tang, Yu L. L. Luo, Ruolei Gu   +7 more
wiley   +1 more source

Exploring the clinical implications of novel SRD5A2 variants in 46,XY disorders of sex development. [PDF]

Asian J Androl
Mao Y, Huang JM, Chen-Zhang YW, Lin H, Zhang YH, Jiang JY, Wu XM, Liao L, Tang YM, Yang JY.   +9 more
europepmc   +1 more source

Assembling the jigsaw puzzle: CBX2 isoform 2 and its targets in disorders/differences of sex development [PDF]

, 2018
Patrick Sproll, Wassim Eid, Camila R. Gomes, Berenice B. Mendonça, Nathália Lisboa Gomes, Elaine Maria Frade Costa, Anna Biason‐Lauber   +6 more
openalex   +1 more source

Uncertainty and Posttraumatic Stress: Differences Between Mothers and Fathers of Infants with Disorders of Sex Development

Archives of Sexual Behavior, 2019
A. M. Delozier, K. Gamwell, Christina M. Sharkey, Dana M Bakula, Megan N Perez, C. Wolfe‐Christensen, P. Austin, L. Baskin, K. Bernabé, Yee-Ming Chan, E. Cheng, D. Diamond, R. Ellens, A. Fried, D. Galan, S. Greenfield, T. Kolon, B. Kropp, Y. Lakshmanan, S. Meyer, T. Meyer, N. Nokoff, K. Reyes, B. Palmer, D. Poppas, A. Paradis, A. Tishelman, E. Yerkes, J. Chaney, A. Wisniewski, L. Mullins   +30 more
semanticscholar   +1 more source

Atrial Fibroblasts‐Derived Extracellular Vesicles Exacerbate Atrial Arrhythmogenesis

Advanced Science, EarlyView.
Exosome miR‐224‐5p derived from angiotensin II‐treated atrial fibroblasts creates a substrate for AF by promoting atrial electrical remodeling. Increased exosome miR‐224‐5p enhances AF susceptibility by inhibiting CACNA1c expression and decreasing ICa current of atrial cardiomyocytes.
Yue Yuan, Xinbo Zhao, Xuejie Han, Yukai Cao, Xuexin Jin, Ling Shi, Xin Bi, Desheng Li, Yun Zhang, Wenbo Ma, Jiahui Song, Zhenwei Pan, Zhiren Zhang, Yue Li   +13 more
wiley   +1 more source

A novel CUL4B gene variant activating Wnt4/β-catenin signal pathway to karyotype 46, XY female with disorders of sex development. [PDF]

Biol Res
Wang C, Chen H, Chen Q, Qu Y, Yuan K, Liang L, Yan Q.   +6 more
europepmc   +1 more source

A de novo derivative Y chromosome (partial Yq deletion and partial duplication of Yp and Yq) in a female with disorders of sex development [PDF]

, 2018
Qingsong Liu, Xing‐Chun Zhu, Qiang Ma, Cheng He, Jian‐Lan Shao   +4 more
openalex   +1 more source