Results 91 to 100 of about 869,874 (249)

Endoscopic magnetic compression stricturoplasty for congenital esophageal stenosis: A case report

, 2022
Shiqi Liu, Yi Lv, Ruixue Luo
openalex   +1 more source

Mapping the Non‐Canonical Splicing Variants: Decrypting the Hidden Genetic Architecture of Idiopathic Male Infertility

Advanced Science, EarlyView.
This study highlights the significance of non‐canonical splicing variants in male infertility, a factor often overlooked during the analysis of high‐throughput sequencing data. Incorporating the non‐canonical splicing variants prioritization in the genetic analysis pipeline will increase the genetic diagnosis of patients with male infertility ...
Kuokuo Li, Yuge Chen, Dongdong Tang, Yuying Sheng, Xu Han, Hao Geng, Na Zhang, Zongliu Duan, Guanxiong Wang, Yang Gao, Rui Guo, Rong Hua, Zhiming Ding, Chuan Xu, Qunshan Shen, Zhen Yu, Bing Song, Mingrong Lv, Yuping Xu, Huan Wu, Ji Wu, Yunxia Cao, Xiaojin He   +22 more
wiley   +1 more source

Esketamine/Ketamine: Dual‐Action Mechanisms and Clinical Prospects beyond Anesthesia in Psychiatry, Immunology, and Oncology

Advanced Science, EarlyView.
Esketamine and ketamine are widely used for perioperative analgesia and anesthesia. Despite their established roles in analgesia, sedation, and anesthesia, as well as emerging antidepressant, anti‐tumor, and anti‐inflammatory effects, their clinical use is limited due to side effects and addiction potential.
Yinxin Wang, Jiangang Xu, Xinyu Zhou, Lu Che, Minghan Qiu, Yang Liu, Ming Gao, Zhen Yang   +7 more
wiley   +1 more source

TP53BP2 Promotes Placental Autophagy and Preeclampsia via G9a and DNMT1 Cooperatively Modulating E2F1

Advanced Science, EarlyView.
G9a, and DNA Methyltransferase1 (DNMT1) cooperatively modulates E2F1 on the promoter of tumor suppressor p53‐binding protein 2 (TP53BP2) increased autophagy in preeclampsia. TP53BP2 promotes autophagy in trophoblasts through DNA methylation and H3K9me2‐mediated transcriptional regulation.
Nan Jiang, Shaoju Jin, Shaoying Wen, Wen Zeng, Chen Wang, Jingyu Wang, Qingyun Song, Guizhong Li, Pengzhi Yin, Yuhui Liao, Yuee Chai, Huiping Zhang, Shengchao Ma   +12 more
wiley   +1 more source

A newborn Screening Programme for Inborn errors of metabolism in Galicia: 22 years of evaluation and follow-up

Orphanet Journal of Rare Diseases
Background There is a notable lack of harmonisation in newborn screening (NBS) programmes worldwide. The Galician programme for early detection of inborn errors of metabolism (IEM) was one of the first NBS programmes in Europe to incorporate mass ...
María L. Couce, María-Dolores Bóveda, Daisy E. Castiñeiras, María-Eugenia Vázquez-Mosquera, Sofía Barbosa-Gouveia , María-José De Castro, Agustin J. Iglesias-Rodríguez, Cristóbal Colón, José A. Cocho, Paula Sánchez   +9 more
doaj   +1 more source

A DNA Tetrahedron Delivery Asiatic Acid to Reprogram Mitochondrial Metabolism for Promoting Bone Regeneration via STAT3 Phosphorylation

Advanced Science, EarlyView.
A hyaluronic acid methacrylate (HAMA) hydrogel incorporating DNA tetrahedrons loaded with Asiatic acid (TDN@AA) was developed. HM‐TDN@AA promotes angiogenesis of endothelial cells (ECs), inhibits osteoclastogenesis from bone marrow–derived macrophages (BMDMs), and enhances osteogenesis of mesenchymal stem cells (MSCs) via STAT3‐mediated mitochondrial ...
Yiwen Huang, Yiming Zhang, Yisheng Feng, Qixiang Yang, Beiyuan Gao, Haiyang Xu, Cheng Huang, Kaili Lin, Yuanzhi Xu, Peiqi Zhu   +9 more
wiley   +1 more source

Prevalence and characteristics of oral and dental anomalies in Tunisian individuals with Down syndrome: a descriptive study

Egyptian Journal of Medical Human Genetics
Backgrounds Trisomy 21 is the most common chromosomal abnormality and is clinically characterized by variable intellectual disability, typical facial dysmorphism, polymalformative syndrome, and oral and dental abnormalities, which are ten times more ...
Yasmine Boukhalfa, Lilia Kraoua, Faouzi Maazoul, Jihène Zaroui, Ridha M’rad   +4 more
doaj   +1 more source

Congenital irreducible atlantoaxial dislocation associated with cervical intramedullary astrocytoma causing progressive spastic quadriparesis [PDF]

, 2008
Sanjay Behari, Anooj Chatley, AwadeshK Jaiswal, Manoj Jain   +3 more
openalex   +1 more source

Hearing Loss: From Basic to Clinical Science

Advanced Science, EarlyView.
Abstract Hearing loss (HL) affects over 1.5 billion people globally, with genetic factors accounting for ≈50% of congenital cases. Therefore, HL has become a global health issue, driving extensive research from basic science to clinical applications. This Special Collection includes a total of 31 papers, among which 9 are review papers, 21 are research
Renjie Chai, Hai Huang, Jing Zou
wiley   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source