Results 71 to 80 of about 68,059 (240)

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN‐Related Disorder in a Mouse Model

Annals of Neurology, EarlyView.
Objective Pathogenic variants in Kaptin (KPTN) cause KPTN‐related disorder (KRD). KPTN modulates mTOR signaling activation within the KICSTOR complex in response to cellular amino acid levels. We define the clinical spectrum and investigate the developmental pathogenesis of KRD.
Lettie E. Rawlins, Philip H. Iffland II, John Page, Rebecca Z. Flessner, Soad M. Elziny, Irina Sbornova, Janice K. Babus, Sophie R. Bruckmeier, Ria Parikh, Merel Verhoeven, James Fasham, Joseph S. Leslie, Richard Caswell, Nishanka Ubeyratna, Olivia Wenger, Ethan M. Scott, John Schreiber, Steffen Syrbe, Annick Klabunde‐Cherwon, Martina Owens, Andrew H. Crosby, Emma L. Baple, Peter B. Crino, the KPTN Consortium, Andrea Seeley, Heather Rocha, Sabine Rudnick, Ulrich Schaatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Ian Ellis, Raza Maroofian, Almundher Al‐Maawali, David Coman, Anthony Morosini, Sajjad Biglari, Pooneh Nikuei, Saadet Mercimek‐Andrews, Prab Prabhakar, Raymond Louie, Kameryn Butler, Olivia Wenger, Ethan M. Scott, Andrea Seeley, Heather Rocha, Amber Begtrup, Sabine Rudnik, Ulrich Schatz, Tobias Haack, Eva Schwaibold, Caleb Bupp, Klaas Wierenga, John Schreiber, Thorkild Terkelsen, Sarina Kant, J. C. Herkert, Michael Wright, Boris Keren, Solveig Heide, Pamela Jackson, Pradeep Vasudevan, Helen Stewart, Perrine Charles, Andreas Hahn, Saskia Biskup, Inger‐Lise Mero, Martin Heier, Marijn Stokman, Conny van Ravenswaaij‐Arts, Esther Nibbeling, Stephanie Efthymiou, Erum Afzal, Kristina Zhelcheska, Henry Houlden, Ian Ellis, Reza Maroofian, Gholamreza Shariati, Hamid Galehdari, Almundher Al‐Maawali, Adila Al‐Kindi, Andrew Y. Shuen, Victoria Siu, Annick Klabunde‐Cherwon, Steffen Syrbe   +104 more
wiley   +1 more source

Helmeted hornbill cranial kinesis: Balancing mobility and stability in a high‐impact joint

The Anatomical Record, EarlyView.
Abstract Prokinesis—in which a craniofacial joint allows the rostrum to move relative to the braincase—is thought to confer diverse advantages in birds, mostly for feeding. A craniofacial joint would, however, be a weak link if cranial stability is important. Paradoxically, we have identified a craniofacial joint in helmeted hornbills (Rhinoplax vigil),
Mike Schindler, Benjamin Flaum, Armita Razieh Manafzadeh, Viktoriia Kamska, Kanmani Chandra Rajan, Maria Jose Robles Malagamba, Ruien Hu, Daniel Baum, Mason N. Dean   +8 more
wiley   +1 more source

Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives

Bone Reports
There is a wide spectrum of craniofacial bone disorders and dysplasias because embryological development of the craniofacial region is complex. Classification of craniofacial bone disorders and dysplasias is also complex because they exhibit complex ...
Sunday O. Akintoye, Akinyele O. Adisa, Chukwubuzor U. Okwuosa, Mel Mupparapu   +3 more
doaj   +1 more source

Dental Approach to Craniofacial Syndromes: How Can Developmental Fields Show Us a New Way to Understand Pathogenesis?

International Journal of Dentistry, 2012
The paper consists of three parts. Part 1: Definition of Syndromes. Focus is given to craniofacial syndromes in which abnormal traits in the dentition are associated symptoms.
Inger Kjær
doaj   +1 more source

Head Development: Craniofacial genetics makes headway [PDF]

Current Biology, 1995
Studies of neural crest migration in animal models, and of human syndromes in which craniofacial development is abnormal, are helping us to understand both prenatal and postnatal development of the head.
openaire   +2 more sources

The morphology of the oval window in Paranthropus robustus compared to humans and other modern primates

The Anatomical Record, EarlyView.
Abstract The oval window (OW) is an opening connecting the inner and middle ear. Its area has been shown to consistently scale with body mass (BM) in primates, and has been used alongside semi‐circular canal (SCC) size to differentiate Homo sapiens and fossil hominins, including Paranthropus robustus.
Ruy Fernandez, José Braga
wiley   +1 more source

Single cell spatial transcriptomics links Wnt signaling disruption to extracellular matrix development in a cleft palate model

Scientific Reports
Despite advances in understanding the morphological disruptions that lead to defects in palate formation, the precise perturbations within the signaling microenvironment of palatal clefts remain poorly understood.
Jeremie Oliver Piña, Resmi Raju, Evan Stipano, Aye Chan Myo, Ziyi Wang, Mitsuaki Ono, Parna Chattaraj, Masae Furukawa, Rena N. D’Souza   +8 more
doaj   +1 more source

A perspective from the Mesozoic: Evolutionary changes of the mammalian skull and their influence on feeding efficiency and high‐frequency hearing

The Anatomical Record, EarlyView.
Abstract The complex evolutionary history behind modern mammalian chewing performance and hearing function is a result of several changes in the entire skeletomuscular system of the skull and lower jaw. Lately, exciting multifunctional 3D analytical methods and kinematic simulations of feeding functions in both modern and fossil mammals and their ...
Julia A. Schultz
wiley   +1 more source

Mesenchymal stem cells in craniofacial reconstruction: a comprehensive review

Frontiers in Molecular Biosciences
Craniofacial reconstruction faces many challenges, including high complexity, strong specificity, severe injury, irregular and complex wounds, and high risk of bleeding.
Zizhuo Zheng, Hanghang Liu, Shibo Liu, En Luo, Xian Liu   +4 more
doaj   +1 more source

Hedgehog receptor function during craniofacial development

Developmental Biology, 2016
The Hedgehog signalling pathway plays a fundamental role in orchestrating normal craniofacial development in vertebrates. In particular, Sonic hedgehog (Shh) is produced in three key domains during the early formation of the head; neuroectoderm of the ventral forebrain, facial ectoderm and the pharyngeal endoderm; with signal transduction evident in ...
Xavier, Guilherme M., Seppala, Maisa, Barrell, Wills, Ahmadi Birjandi, Anahid, Geoghegan, Finn, Cobourne, Martyn T.   +5 more
openaire   +5 more sources