Results 181 to 190 of about 87,547 (219)

A Rare De Novo Missense Mutation in IFT122 Confers a Genetic Susceptibility Factor of Idiopathic Pediatric Uveitis Via Trio‐based Whole‐Exome Sequencing

Advanced Science, EarlyView.
A rare de novo IFT122‐A773E variant is identified in idiopathic pediatric uveitis and shown to exacerbate retinal inflammation and barrier dysfunction. Mechanistically, the variant enhances IFT43 interaction, elevates calcium signaling, and activates the MEK/ERK/FRA1 axis, revealing a previously unrecognized cilia‐associated pathway that may increase ...
Qian Zhou, Jiaxing Huang, Yilin Wang, Xingran Li, Xianyang Liu, Lingyu Dai, Hongshun Li, Qingfeng Wang, Jiangyi Liu, Guannan Su, Wanyun Zhang, Yang Deng, Qingfeng Cao, Yujie Lai, Xiang Luo, Changwei Huang, Ling Chen, Shengping Hou, Peizeng Yang   +18 more
wiley   +1 more source

Case Report: Proportionate short stature in a three-generation family harboring <i>FGFR3</i> N540S: phenotypic expansion beyond hypochondroplasia and implications for genetic screening in idiopathic short stature. [PDF]

Front Endocrinol (Lausanne)
Zhang B, Wang X, Luo J, Gong C.
europepmc   +1 more source

SemanticST: A Scalable Multi‐Contextual Graph Learning Framework for Uncovering Spatial Niches and Robust Multi‐Sample Integration in Spatial Transcriptomics

Advanced Science, EarlyView.
Technical limitations often let dominant signals overshadow rare cell types and fine‐grained heterogeneity in spatial transcriptomics. SemanticST, a graph neural network using multi‐semantic graph fusion and a novel min‐cut loss, recovers these subtle patterns.
Roxana Zahedi, Ahmadreza Argha, Nona Farbehi, Ivan Bakhshayeshi, Thantrira Porntaveetus, Youqiong Ye, Nigel H. Lovell, Hamid Alinejad‐Rokny   +7 more
wiley   +1 more source

Additional PAX3 Variants for Dominant Blue Eyes in Cats. [PDF]

Anim Genet
Abitbol M, Eiselé T, Lipovenko E.
europepmc   +1 more source

Functional Sex Reversal in Adult Gonochoristic Teleosts is Mediated by Ovarian Germline Stem Cell Plasticity and Somatic Cell Transdifferentiation

Advanced Science, EarlyView.
Oocytes play crucial roles in maintaining ovarian fate in adult gonochoristic fish. Targeted oocyte ablation with aromatase inhibition triggers the activation of surviving germline stem cells and the transdifferentiation of somatic cells from granoulosa/theca to Sertoli/Leydig lineages, inducing a complete and functional female‐to‐male sex reversal ...
Yang Yang, Liechao Yu, Wanchang Zhang, Gary Wessel, Ruiyi Chen, Weihua Hu, Dongdong Xu   +6 more
wiley   +1 more source

Limb-Predominant Familial Multiple Lipomatosis: The Role of En Bloc Excision and Systematic Pedigree in Modern Surgical Practice - A Case Report. [PDF]

Orthop Rev (Pavia)
Phuc LH, Huy LD, Thang VD, Anh LN, Trung ND, Huong TT, Luyen NT, Tri VLQ, Quang MH, Nam LH, Sang NTQ.   +10 more
europepmc   +1 more source

Bioadhesive‐Integrated 3D‐Printed Multilayer Scaffolds Secure a Mechanically‐Stable Osteoimmune Niche for Enhanced Bone Augmentation

Advanced Science, EarlyView.
A 3D‑printed multilayer adhesive scaffold, firmly anchored to bone defects by simple finger pressing, suppresses micromotion and secures mechanical stability of the osteogenic niche. This stabilization likely contributes to the enhanced bone augmentation by fostering a pro‑regenerative mechano‐immune profile—characterized by M2‑like macrophage ...
Delu Zhao, Qiuyi Li, Lingyun Wang, Chongao Zhang, Yutian Cheng, Shuang Liu, Fulan Wei, Zheqin Dong   +7 more
wiley   +1 more source

TED1 Promotes the Assembly of SCFD3‐D14‐D53 to Reinforce Strigolactone Signaling in Rice

Advanced Science, EarlyView.
This study identifies TED1 as a positive regulator of strigolactones (SL) signaling in rice. The ted1 mutants display dwarfism and increased tillering with significantly reduced SLs sensitivity. Through its longer C‐terminal region, TED1 interacts with D53 and D14 to promote the assembly of SCFD3‐D14‐D53, thereby facilitating the efficient ...
Sheng Luo, Chuanyin Wu, Miao Feng, Wenfan Luo, Rong Miao, Jinsheng Qian, Fan Wang, Chunlei Zhou, Bojuan Liu, Jiale Shao, Ziqi Xun, Yehui Xiong, Zhichao Zhao, Cailin Lei, Shanshan Zhu, Yulong Ren, Xin Wang, Xiuping Guo, Haiyang Wang, Zichao Li, Zhijun Cheng, Qibing Lin, Jianmin Wan   +22 more
wiley   +1 more source

Genealogical Identification and Short Tandem Repeat-Based Verification of Suspected Consanguinity in Mongolian Families. [PDF]

Appl Clin Genet
Tsend-Ayush A, Tumurbaatar S, Baatar B, Ganbaatar E, Davaasuren O, Dagvajantsan B, Dashtseren M, Unurjargal T, Nyamdavaa K, Jav S, Chimeddorj B.   +10 more
europepmc   +1 more source