Results 71 to 80 of about 15,686 (159)

Oculodentodigital Dysplasia: A Case Report and Major Review of the Eye and Ocular Adnexa Features of 295 Reported Cases

Case Reports in Ophthalmological Medicine, 2020
Oculodentodigital dysplasia (ODDD) is a rare genetic disorder associated with a characteristic craniofacial profile with variable dental, limb, eye, and ocular adnexa abnormalities.
Virang Kumar, Natario L. Couser, Arti Pandya   +2 more
doaj   +1 more source

Molecular and Cellular Hallmarks of Age‐Related Vestibular Hair Cell Degeneration

Advanced Science, Volume 13, Issue 53, 24 September 2026.
This study utilizes single‐cell RNA‐seq transcriptomes, advanced imaging, and electrophysiology to examine universal and cell‐type‐specific aging signatures of vestibular hair cells. The study shows that impaired hair bundle function is a key driver of age‐related vestibular dysfunction.
Samadhi Kulasooriya, Huizhan Liu, Sarath Vijayakumar, Celia Bloom, Zhenhang Xu, Shu Tu, Benjamin J. Borgmeier, Mi Zhou, Litao Tao, Bechara Kachar, David Z. He   +10 more
wiley   +1 more source

Hippocampal snRNA‐seq in Collaborative Cross reveals molecular signatures of cognitive resilience independent of chronological aging

Alzheimer's &Dementia, Volume 22, Issue 9, September 2026.
Abstract INTRODUCTION Genetic factors contribute to variability in age‐related cognitive decline, yet the molecular mechanisms underlying cognitive resilience remain poorly understood. METHODS We performed single‐nucleus RNA sequencing on hippocampal tissue from 107 genetically diverse Collaborative Cross mice across three ages (6, 12, and 18 months ...
Yu Chen, Andrew R. Ouellette, Yiding Cao, Jigang Zhang, Catherine C. Kaczorowski   +4 more
wiley   +1 more source

Navigating Human Astrocyte Differentiation: Direct and Rapid One‐Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network Development

Glia, Volume 74, Issue 9, September 2026.
One‐step protocol enabling direct differentiation of human iPSCs into functional astrocytes within 5 weeks. Validated in > 60 lines across 10 labs. iPSC‐astrocytes support robust neuronal network development in co‐culture. ABSTRACT Astrocytes play a pivotal role in neuronal network development.
Imke M. E. Schuurmans, Annika Mordelt, Marta Guevara‐Ferrer, Katrin Linda, Denise Duineveld, Sofia Puvogel, Marina P. Hommersom, Nicky Scheefhals, Lisa Rahm, Emma Dyke, Gijs‐Jan Scholten, Caroline Knorz, Carlos Gonzalez Jimenez, Noelle van Egmond, Astrid Oudakker, Chantal Bijnagte‐Schoenmaker, Hans van Bokhoven, Wei Wei, Samuel Hofmann, Sabine Jung‐Klawitter, Sandra Mojica‐Perez, Jack Parent, Lidia Carotenuto, Sarah Weckhuysen, Nadine Maas, Ype Elgersma, Eline van de Ven, Dirk Lefeber, Anita Lygeroudi, Helga E. de Vries, Luc Jordi, Magdalini Polymenidou, Teresa Mitchell‐Garcia, Iulia Dragan, Amalia Dolga, Lot D. de Witte, Clara D. M. van Karnebeek, James Ellis, Alejandro Garanto, Nael Nadif Kasri   +39 more
wiley   +1 more source

GJA1 depletion causes ciliary defects and abnormal laterality

, 2018
Gap junction protein alpha 1 (GJA1), also known as Connexin 43 (CX43), is the most common and a major subunit of the gap junction complex. In the cytoplasm, the C-terminal domain of GJA1 protein regulates the cytoskeletal network, including actin and ...
Park, Tae Joo, Jang, Dong Gil
core  

A novel mutation in the GJA1 gene in a family with oculodentodigital dysplasia

, 2015
Objectives: To describe a Brazilian family with oculodentodigital dysplasia (ODDD) and to screen for mutations in the gap junction protein alpha I (GJA1) gene in this family.
Bressanim, NC, Costa, VP, Schimiti, RB, Vasconcellos, JPC, Costa, FF, Melo, MB   +5 more
core   +1 more source

Connexin 43 is required for the maintenance of mitochondrial integrity in brown adipose tissue

Scientific Reports, 2017
We investigated the role of connexin 43 (Cx43) in maintaining the integrity of mitochondria in brown adipose tissue (BAT). The functional effects of Cx43 were evaluated using inducible, adipocyte-specific Cx43 knockout in mice (Gja1 adipoq KO) and by ...
Sang-Nam Kim, Hyun-Jung Kwon, Seo-Woo Im, Yeon-Ho Son, Seun Akindehin, Young-Suk Jung, Se Jeong Lee, Im Joo Rhyu, Il Yong Kim, Je-Kyoung Seong, Jinu Lee, Hee-Chan Yoo, James G. Granneman, Yun-Hee Lee   +13 more
doaj   +1 more source

Structural assessment of PITX2, FOXC1, CYP1B1, and GJA1 genes in patients with Axenfeld-Rieger syndrome with developmental glaucoma

, 2015
PURPOSE. Axenfeld-Rieger (AR) is an autosomal dominant disorder with phenotypic heterogeneity characterized by anterior segment dysgenesis, facial bone defects, and redundant periumbilical skin.
Costa, VP, de Vasconcellos, JPC, Cella, W, de Melo, MB, Kneipp, B, Costa, FF, Longui, CA   +6 more
core   +1 more source

Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial Fibrillation

, 2018
Genomic Variants in NEURL, GJA1 and CUX2 Significantly Increase Genetic Susceptibility to Atrial ...
Weixi Qin (16619547), Jingyu Liu (106454), Xiaojing Wang (147040), Xiang Ren (358465), Qin Yang (25816), Chengqi Xu (302053), Qing K Wang (16619499), Feifei Chen (13069737), Yuhua Liao (426783), Jingqiu Liu (782688), Xiaoping Luo (78121), Pengxia Wang (340296), Rongfeng Zhang (585594), Sisi Li (437128), Bo Yang (104813), Mugen Liu (284512), Yi Xiao (135101), Pengyun Wang (494172), Tie Ke (782689), Xin Tu (205018), Xiang Cheng (112921), Ying Liu (18461), Qiuyun Chen (671683), Yufeng Huang (782683), Yanzong Yang (470518), He Li (176971), Yanxia Wu (741216), Yunlong Xia (470516)   +27 more
core   +3 more sources

Connexin 43 regulates intercellular mitochondrial transfer from human mesenchymal stromal cells to chondrocytes

Stem Cell Research & Therapy
Background The phenomenon of intercellular mitochondrial transfer from mesenchymal stromal cells (MSCs) has shown promise for improving tissue healing after injury and has potential for treating degenerative diseases like osteoarthritis (OA).
Rebecca M. Irwin, Matthew A. Thomas, Megan J. Fahey, María D. Mayán, James W. Smyth, Michelle L. Delco   +5 more
doaj   +1 more source