Results 231 to 240 of about 336,645 (300)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Inhibition of Wnt signaling in primary human hepatocytes promotes Plasmodium falciparum liver stage development. [PDF]

PLoS Pathog
Kanyal A, van Gemert GJ, Wu H, van der Starre A, de Wilt JHW, Bousema T, Sauerwein RW, Bártfai R, Yang ASP.   +8 more
europepmc   +1 more source

Zebrafish and CRISPR—A synergistic approach to decipher and cure human diseases

Animal Models and Experimental Medicine, EarlyView.
Zebrafish, with high genetic homology to humans, serves as a powerful vertebrate model for disease modeling and drug discovery. Integration of CRISPR/Cas9 technology enables precise genome editing, facilitating the development of translational models for human diseases.
Manikandan Sivaprakasam, Aashika Raagavi Jeanpierre, Salma Mohammed, Rajesh Srinivasan, Aman Kumar Mohanty   +4 more
wiley   +1 more source

Fzd2 orchestrates canonical and non-canonical Wnt signaling to regulate lung development and fibrosis. [PDF]

Cell Commun Signal
Zhou J, Lou X, Wei Z, Mao X, Zhang J, Jin X, Li B, Zheng C, Siwu X, Yang Y, Zhang Y, Chen W, Jiang M.   +12 more
europepmc   +1 more source

Molecular mechanism of ischemic postconditioning in promoting diabetic ischemic brain injury repair via the microRNA‐34a–BDNF–SIX3 signaling axis

Animal Models and Experimental Medicine, EarlyView.
Diabetes combined with ischemic stroke (DMIS) exacerbates brain infarct size and neuronal damage compared to nondiabetic ischemic stroke (IS). This study reveals that microRNA‐34a (miR‐34a) plays a key role in DMIS pathogenesis: miR‐34a directly targets and suppresses brain‐derived neurotrophic factor (BDNF) and Sine oculis homeobox 3 (SIX3), promoting
Ling Zhao, Chunlan Zou, Junxian Li, Yang Yang, Yuanyuan Han, Tingyu Ke   +5 more
wiley   +1 more source

SNHG5 enhances colorectal cancer metastasis through RNA-protein interaction with GNB2 and activation of canonical Wnt signaling. [PDF]

Noncoding RNA Res
Chen X, Yang M, Luo X, Yuan X.
europepmc   +1 more source

Porcine kidney xenotransplantation: From primate models to clinical reality

Animal Models and Experimental Medicine, EarlyView.
In the face of a critical shortage of human donor kidneys for end‐stage renal disease patients, porcine kidney xenotransplantation has emerged as a viable solution. This field has navigated major hurdles, including immune rejection, physiological incompatibilities, potential biomechanical differences and the risk of cross‐species infection. To overcome
Zihang Guo, Ling Zhang, Shoulong Deng, Chuan Qin   +3 more
wiley   +1 more source

NR1I3 modulates Wnt signaling to promote anterior-posterior axis patterning. [PDF]

BMC Biol
Sun Y, Ding N, Li S, Zhang Y, Qin Y, Hao Z, Zhang S, Tian Q.   +7 more
europepmc   +1 more source

Transcriptomic validation of a 7,12 Dimethylbenz(a)anthracene (DMBA)‐induced leukemia rat model: Parallels with human leukemogenesis

Animal Models and Experimental Medicine, EarlyView.
7,12‐Dimethylbenz[a]anthracene (DMBA) could induce leukemia and other types of cancers in rat models. Transcriptomics revealed gene expression profile that parallels with human leukemia. DMBA‐induced differential gene expression could validate the developed rat model.
Khaldoon Alsamman, Omar S. El‐Masry
wiley   +1 more source

High-dose SFRP2 attenuates fibrosis and promotes angiogenesis via Wnt signaling modulation in diabetic erectile dysfunction. [PDF]

Open Life Sci
Rho BY, Choi MJ, Huang Y, Fridayana FR, Yin GN, Ryu JK.   +5 more
europepmc   +1 more source