Results 31 to 40 of about 390,574 (294)

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

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 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

TNAP and PHOSPHO1 Function Synergistically to Afford Critical Control Over the Mineralization of the Postnatal Murine Skeleton

Advanced Science, EarlyView.
Biomineralization underpins skeletal development, yet its molecular control remains incompletely understood. Using a novel murine knockout model, this study reveals the essential and complementary roles of PHOSPHO1 and TNAP in postnatal skeletal development.
Lucie E. Bourne, Aikta Sharma, Scott Dillon, Jacob Keen, Soher N. Jayash, Natalie Crump, Lucinda A.E. Evans, Maya Karmali, Worachet Promruk, Claire E. Clarkin, Sonoko Narisawa, Louise Stephen, Brian L. Foster, José Luis Millán, Colin Farquharson, Katherine A. Staines   +15 more
wiley   +1 more source

Hierarchical Nanoplatform Integrating Oxidative–Acidic Microenvironment Remodeling and Bone Homeostasis Modulation for Diabetic Bone Defect Therapy

Advanced Science, EarlyView.
A hierarchical CM/LDH nanoplatform integrates ROS‐scavenging Ce‐MOF nanozymes with acid‐neutralizing CaAl‐LDH and is delivered within GelMA hydrogel to diabetic bone defects. By remodeling the oxidative‐acidic microenvironment, preserving mitochondrial homeostasis, and suppressing mtDNA–cGAS–STING inflammatory signaling, CM/LDH reduces proinflammatory ...
Xu Chen, Xingyu Zhu, Zhixin Qiu, Yijia Zhu, Xinhui Zheng, Dongqi Fan, Jinglei Zhan, Congxiu Mao, Ping Ji, Tao Chen, Qingqing He   +10 more
wiley   +1 more source

Yoda1‐Functionalized Nanozymes Coordinate Piezo1 Activation and Mitochondrial Protection to Reprogram the Diabetic Osteoimmune Micromilieu and Promote Vascularized Bone Repair

Advanced Science, EarlyView.
Diabetic bone defects remain a critical clinical challenge. A 3D‐printed BCPG‐MF@Y scaffold, embedding Yoda1‐functionalized manganese dioxide‐ferritin nanozymes, scavenges mtROS, suppresses the cGAS–STING pathway, and reverses cellular senescence, while Yoda1 activates Piezo1 to direct BMSCs fate to synergistically reprogram the osteoimmune ...
Qing‐Song Deng, Ang Wang, Ren Zhang, Xu‐Ran Li, Po‐Lin Liu, Shu‐Hang He, Zi‐Yin Han, Zhi‐Han Shen, Zhan‐Ying Wei, Chang‐Ru Zhang, Fei Wang, Helen Dawes, Jian Lu, Tong‐He Zhu, Jin‐Zhong Zhao, Shang‐Chun Guo, Shi‐Cong Tao   +16 more
wiley   +1 more source

Intracranial and Extracranial Malformations in Patients With Craniofacial Anomalies

, 2010
Background: Craniofacial structures have an intimate relationship with the central nervous system in the embryologic development period and the developmental abnormalities of the face and skull that are frequently associated with malformations of the ...
Gökhan Tunçbilek, AKARSU, Nurten A., UZUN, HAKAN, Yasemin Alanay, Kemal Benli, KAYIKCIOGLU, Aycan, TUNCBILEK, Gokhan, Benli, KEMAL, Aycan Kaykçoğlu, Nurten A. Akarsu, Alanay, YASEMİN, Hakan Uzun   +11 more
core   +1 more source

Long‐Term Expandable Periosteal Organoids Reconstruct a Functional Regenerative Niche That Support Hematopoietic Stem Cell Maintenance and Bone Repair

Advanced Science, EarlyView.
A robust periosteal organoid system enables long‐term expansion while preserving native cellular heterogeneity. These organoids recapitulate functional niche environments, support hematopoietic stem cell maintenance, and attenuate aging‐associated decline ex vivo.
Jia Qing, Lanxin Gu, Lipeng Fu, Xin Gao, Zechuan Li, Hui Zhang, Wenpeng Song, Huixin Lv, Yongsheng Zhou, Ping Zhang   +9 more
wiley   +1 more source

Effects of hypodontia on craniofacial structures and mandibular growth pattern [PDF]

, 2011
Introduction: This study was performed to examine craniofacial structures in persons with hypodontia and to reveal any differences, that may occur, when agenetic teeth are only found in the maxilla, the mandible or in both jaws.
Faltermeier, Andreas, Faltermeier Andreas, Peter Proff, Kreczi, Amelia, Amelia Kreczi, Proff Peter, Reicheneder, Claudia, Andreas Faltermeier, Proff, Peter, Reicheneder Claudia, Kreczi Amelia, Claudia Reicheneder   +11 more
core   +1 more source

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT LRP1 encodes the low‐density lipoprotein (LDL) receptor‐related protein 1 (LRP1), a transmembrane protein involved in endocytosis and activation of multiple signaling pathways. LRP1 variants have been implicated in the pathogenesis of congenital heart defects (CHD), Alzheimer's disease, and neurodevelopmental disorders (NDD).
Alyssa L. Rippert, Gudny Anna Arnadottir, Laura Bedinger, Nicola Brunetti‐Pierri, Jennifer Cech, Xin Chen, Yanmin Chen, Erika Chick, Sarah Dyack, Madeleine Franchi, Tanja Frey, David Genevieve, Ian Glass, Jorge Granadillo, Kelly A. Keener, Sara B. MacKay, Paige McDunnah, Vinod K. Misra, Kristin G. Monaghan, Sureni V. Mullegama, Cristina Peduto, Leia Peterman‐Prather, Anita Rauch, Cherith Somerville, Kari Stefansson, Katharina Steindl, Patrick Sulem, Telma Sulem, Pamela Trapane, Roberta Zeuli, Samuel Zinner, Kosuke Izumi   +31 more
wiley   +1 more source