Results 31 to 40 of about 34,364 (292)

Craniofacial and cardiac defects in chd7 zebrafish mutants mimic CHARGE syndrome

Frontiers in Cell and Developmental Biology, 2022
Congenital heart defects occur in almost 80% of patients with CHARGE syndrome, a sporadically occurring disease causing craniofacial and other abnormalities due to mutations in the CHD7 gene.
Yuhan Sun, Yuhan Sun, S. Ram Kumar, S. Ram Kumar, Chee Ern David Wong, Zhiyu Tian, Haipeng Bai, Haipeng Bai, J. Gage Crump, Ruchi Bajpai, Ruchi Bajpai, Ching Ling Lien, Ching Ling Lien, Ching Ling Lien   +13 more
doaj   +1 more source

Craniofacial Abnormalities in Hutchinson-Gilford Progeria Syndrome [PDF]

American Journal of Neuroradiology, 2012
HGPS is a rare syndrome of segmental premature aging. Our goal was to expand the scope of structural bone and soft-tissue craniofacial abnormalities in HGPS through CT or MR imaging. Using The Progeria Research Foundation Medical and Research Database, 98 imaging studies on 25 patients, birth to 14.1 years of age, were comprehensively reviewed.
N J, Ullrich, V M, Silvera, S E, Campbell, L B, Gordon   +3 more
openaire   +2 more sources

Oral findings and craniofacial morphology in a patient with Schwartz‐Jampel syndrome and severe obstructive sleep apnea: A case report

Clinical Case Reports, 2020
We reported dental and craniofacial characteristics of an SJS patient with severe OSA. Not only does the syndrome cause skeletal abnormalities and myotonia, but it also affects the craniofacial development resulting in a severe constriction of maxillary ...
Mevadee Pibulniyom, Patimaporn Pungchanchaikul, Thanate Assawakawintip, Supakit Peanchitlertkajorn   +3 more
doaj   +1 more source

ERK‐Mediated Phosphorylation of YAP Defines a Noncanonical FGF Signaling Mechanism in Stem Cells

Advanced Science, EarlyView.
With a powerful combination of in vivo, ex vivo, and in vitro models, the authors highlight a novel FGF‐ERK signaling regulation of YAP at the S128 site in neural crest‐derived stem cells. This study opens exciting new directions in stem cell biology and craniofacial biology, paving the way for potential innovations in the treatment of craniofacial ...
Xiaolei Zhao, Shannon Erhardt, Li Tang, Xiaotong Chen, Stephen M Farmer, Zixiu Cheng, Wen Chen, Ella Ziyuan Lu, Kihan Sung, Chang‐Ru Tsai, Mingjie Zheng, Sheng Zhang, Yang Liu, Jianxin Wang, Min Li, James F Martin, Jun Wang   +16 more
wiley   +1 more source

Orchestrated Engineered Polyphenol‐Peptide Condensates Coupled With β‐GP Reverses Diabetic Osteoporosis by Remodeling Mitophagy

Advanced Science, EarlyView.
A multifunctional β‐GP@EGCG‐E7 nanoplatform is engineered by polyphenol–peptide condensation and phosphate loading. Bone‐targeted delivery, antioxidant and anti‐inflammatory activity, and mitophagy restoration are integrated in one system, enabling protection of osteoblasts and endothelial cells and promoting bone regeneration under diabetic ...
Xiuyun Xu, Meiqin Zhang, Ting Wu, Erfan Wei, Andrei Y. Hancharou, Zeying Wang, Zijuan Wang, Letian Lv, Likun Wu, Xingtong Pan, Qiyue Zhu, Xinyi Dong, Hao Liu, Yongsheng Zhou   +13 more
wiley   +1 more source

Craniofacial malformations in a stillborn mixed‐breed dog as a cause for dystocia

Veterinary Medicine and Science
This case report describes the findings of craniofacial anomalies associated with dystocia in a mixed‐breed bitch. A bitch in labour was presented for evaluation of dystocia, and an emergency caesarean section was performed.
Megan E. Bernard, Hannah R. Coffin, Ryan P. Taylor, Callum G. Donnelly   +3 more
doaj   +1 more source

Mastication‐Induced Electrical Stimulation Activates Prg4+ Chondroprogenitors for Osteoarthritis Therapy

Advanced Science, EarlyView.
This study presents a ″trash‐to‐treasure″ strategy that converts harmful joint overloads into beneficial electrical cues. The biodegradable MagPie, by providing piezoelectrical stimulation and releasing Mg2+ during mastication, exerts synergistic pro‐regenerative and anti‐inflammatory effects on Prg4+ cells via the ECM‐mediated FAK‐PI3K‐Akt axis ...
Shi‐Yang Feng, Jing‐Rong Cheng, Yu Qin, Jie Lei, Chen‐Chen Gao, Hong‐Ying Fu, Li‐Ping Wu, Thanh D. Nguyen, Xu‐Liang Deng, Kai‐Yuan Fu, Yang Liu   +10 more
wiley   +1 more source

Mutations affecting craniofacial development in zebrafish [PDF]

, 1996
In a large-scale screen for mutations affecting embryogenesis in zebrafish, we identified 48 mutations in 34 genetic loci specifically affecting craniofacial development. Mutants were analyzed for abnormalities in the cartilaginous head skeleton. Further,
Zwartkruis, F., Neuhauss, S.C., Schier, A.F., Stemple, D.L., Abdelilah, S., Solnica-Krezel, L., Malicki, J., Driever, W., Stainier, D.Y.   +8 more
core   +2 more sources

The 9th International RASopathies Symposium

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel, Lisa Schoyer, Beth Stronach, Raya Bogdanova, Anton M. Bennett, Jaishri Blakeley, Miriam Bornhorst, Tammy Bowers, Saskia M. Brachmann, Emma Burkitt‐Wright, Kathryn Chatfield, Alessandro De Luca, Khalil El‐Chammas, Abdul Elkadri, John E. Fortunato, Bruce D. Gelb, Anne Goriely, Karen Gripp, Kassidy Grover, Lindsay Homan, Kenneth A. Kern, Maija Kiuru, Charles (Chuck) Lawson, Yong‐Seok Lee, Frank McCormick, Gina Ney, Cristina Nuevo‐Tapioles, Sara Pardej, Elizabeth I. Pierpont, Julia Plank, Nancy Ratner, Katherine A. Rauen, J. Elliott Robinson, Les Rogers, Sarah E. Sheppard, Keir Shiels, David Stevenson, Dagmar Tiemens, Matthew Traylor, K. Nicole Weaver, Marielle Yohe, Tamar Green   +41 more
wiley   +1 more source

Prevention of Retinoic Acid-Induced Early Craniofacial Abnormalities by Vitamin B12 in Mice

, 2011
Objective The purpose of the present study was to identify the potential effect of prenatal vitamin B12 administration on retinoic acid (RA)-induced early craniofacial abnormalities in mice and to investigate the possible mechanisms by which vitamin B12 ...
Zhaofeng Zhang, Xiaoqian Dai, Ye Ding, Junbo Wang, Yong Li   +4 more
core   +1 more source