Results 51 to 60 of about 21,466 (185)

Neurovascular coupling in bone regeneration: Mechanisms, advanced biomaterials and challenges

BMEMat, EarlyView.
This figure illustrates various material strategies for neurovascularized bone regeneration, including electroactive scaffolds, ion‐loaded materials, drug delivery systems, surface modifications, cells/cell products, growth factors, and peptides. These approaches aim to synergistically promote the regeneration of neural, vascular, and bone tissues ...
Yixin Ma, Nan Jiang, Liyuan Chen, He Zhang, Xinjia Cai, Karan Gulati, Danqing He, Zhigang Cai, Yan Liu   +8 more
wiley   +1 more source

Regulation of Merkel cell development by Pax6

The International Journal of Developmental Biology, 2012
Merkel cells are mechanoreceptors widely distributed in the vertebrate skin. In rodents, Merkel cells within the whisker pads are innervated by free sensory nerve endings derived from the maxillary branch of the trigeminal nerve. This study identified expression of the transcription factor Pax6 in Merkel cells and investigated its role ...
Ida, Parisi, J Martin, Collinson
openaire   +3 more sources

Mutually regulated expression of Pax6 and Six3 and its implications for the Pax6 haploinsufficient lens phenotype [PDF]

Proceedings of the National Academy of Sciences, 2002
Pax6 is a key regulator of eye development in vertebrates and invertebrates, and heterozygous loss-of-function mutations of the mouse Pax6 gene result in the Small eye phenotype, in which a small lens is a constant feature.
Goudreau, G., Petrou, P., Reneker, L., Graw, J., Loster, J., Gruss, P.   +5 more
openaire   +3 more sources

Diversity of clinical phenotypes in a cohort of Han Chinese patients with PAX6 variants

Frontiers in Genetics, 2023
The PAX6 gene plays an important role in ocular development. Mutations of the PAX6 gene may result in a series of ocular abnormalities, including congenital aniridia, anterior segment dysgenesis (ASD), progressive corneal opacification, glaucoma, and ...
Lijuan Huang, Lijuan Huang, Jiajia Peng, Yan Xie, Yunyu Zhou, Xiaolin Wang, Hui Wang, Jingang Gui, Ningdong Li, Ningdong Li, Ningdong Li, Ningdong Li   +11 more
doaj   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

A screen for proteins that interact with PAX6: C-terminal mutations disrupt interaction with HOMER3, DNCL1 and TRIM11

BMC Genetics, 2005
Background The PAX6 protein is a transcriptional regulator with a key role in ocular and neurological development. Individuals with heterozygous loss-of-function mutations in the PAX6 gene have malformations of the eye and brain.
Hanson Isabel M, Cooper Simon T
doaj   +1 more source

Somatic cell reprogramming for Parkinson's disease treatment

Ibrain, Volume 11, Issue 1, Page 59-73, Spring 2025.
The fundamental purpose of cell reprogramming to treat Parkinson's disease is to generate dopaminergic neurons (DAN) and do transplantation. There are two ways to accomplish this. One method is to induce cells into induced DA neurons (iDAN) directly or to induce cells into induced pluripotent stem cells and ultimately into iDAN in vitro. Another option
Xiaozhuo Li, Kevin Fang, Fengping Wang
wiley   +1 more source

Protecting Pax6 3′ UTR from MicroRNA-7 Partially Restores PAX6 in Islets from an Aniridia Mouse Model

Molecular Therapy: Nucleic Acids, 2018
Aniridia is a rare congenital syndrome that is associated with reduced visual acuity and progressive loss of vision. Aniridia patients may also develop systemic health issues associated with defects in the pancreas, digestive, and central nervous systems.
Kevin Yongblah, Spencer C. Alford, Bridget C. Ryan, Robert L. Chow, Perry L. Howard   +4 more
doaj   +1 more source

Long‐Read Pan‐Cancer Transcriptomics Unravel Distinct Alteration Trends Between Gene and Isoform Expression in Tumorigenesis

iMetaMed, EarlyView.
Long‐read profiling of 144 tumor‐normal pairs identifies isoform‐level cancer dysregulation independent of gene changes. Our scoring system prioritizes isoform‐driven prognostic genes across cancers. ABSTRACT Tumorigenesis involves transcriptomic alterations at both gene and isoform levels.
Yuying Ding, Bo Wu, Dan Zhou, Qiang Li, Dingru Li, Mengyun Cai, Zhiyan Chen, Caimei Zhong, ChuanLe Xiao, Yuhua Deng   +9 more
wiley   +1 more source

Sequencing of Pax6 loci from the elephant shark reveals a family of Pax6 genes in vertebrate genomes, forged by ancient duplications and divergences.

PLoS Genetics, 2013
Pax6 is a developmental control gene essential for eye development throughout the animal kingdom. In addition, Pax6 plays key roles in other parts of the CNS, olfactory system, and pancreas.
Vydianathan Ravi, Shipra Bhatia, Philippe Gautier, Felix Loosli, Boon-Hui Tay, Alice Tay, Emma Murdoch, Pedro Coutinho, Veronica van Heyningen, Sydney Brenner, Byrappa Venkatesh, Dirk A Kleinjan   +11 more
doaj   +1 more source