Results 61 to 70 of about 5,944 (238)

Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report

BMC Medical Genetics, 2020
Background Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia ...
Dulika Sumathipala, Petter Strømme, Christian Gilissen, Ingunn Holm Einarsen, Hilde J. Bjørndalen, Andrés Server, Jordi Corominas, Bjørnar Hassel, Madeleine Fannemel, Doriana Misceo, Eirik Frengen   +10 more
doaj   +1 more source

Protocol for Reconstituting Adaptor‐Mediated Activation of Full‐Length Kinesin‐1

Cytoskeleton, EarlyView.
ABSTRACT Kinesin‐1 is a member of the kinesin superfamily that plays an essential role in intracellular cargo transport. In the absence of cargo, Kinesin‐1 exhibits low motor activity due to autoinhibition. Multiple studies have demonstrated that adaptor proteins, which link cargos to Kinesin‐1, can activate Kinesin‐1 by releasing the autoinhibition ...
Haruka Masumoto, Kyoko Chiba
wiley   +1 more source

The Frog Xenopus as a Model to Study Joubert Syndrome: The Case of a Human Patient With Compound Heterozygous Variants in PIBF1

Frontiers in Physiology, 2019
Joubert syndrome (JS) is a congenital autosomal-recessive or—in rare cases–X-linked inherited disease. The diagnostic hallmark of the so-called molar tooth sign describes the morphological manifestation of the mid- and hind-brain in axial brain scans ...
Tim Ott, Lilian Kaufmann, Martin Granzow, Katrin Hinderhofer, Claus R. Bartram, Susanne Theiß, Angelika Seitz, Nagarajan Paramasivam, Nagarajan Paramasivam, Angela Schulz, Ute Moog, Martin Blum, Christina M. Evers   +12 more
doaj   +1 more source

Dental development in the tropical gar (Atractosteus tropicus) and the evolution of vertebrate dentitions

Developmental Dynamics, EarlyView.
Abstract Background Dentitions have diversified enormously during vertebrate evolution, involving reductions, modifications, or allocations to prey seizing and processing regions. A combination of ancient and novel features related to dental and oropharyngeal apparatuses is found in extant lineages of non‐teleost fishes, such as the gars.
Anna Pospisilova, Jan Stundl, Lenin Arias‐Rodriguez, Robert Cerny, Vladimír Soukup   +4 more
wiley   +1 more source

Proteomic signatures of equine dental tooth tissues in ageing and disease

Equine Veterinary Journal, EarlyView.
Abstract Background Ageing and dental disease in horses lead to structural and functional deterioration of dental tissues, yet their molecular signatures remain poorly characterised. Understanding how these processes alter the protein composition of enamel, dentin, cementum and pulp is essential for improving equine oral health and identifying ...
Anders Jensen, Danae Emilie Zambouli, Iris Gringel, Zoe Nugent, Kazuhiro Yamamoto, Lee Cooper, Andrew J. Peffers, Guido Rocchigiani, Mandy J. Peffers   +8 more
wiley   +1 more source

A study of the forces generated during equine cheek tooth extraction

Equine Veterinary Journal, EarlyView.
Abstract Background Significant force is often applied when elevating equine teeth from the alveolus during extraction. No previous studies have investigated these forces. Objectives To develop a method to allow measurement of elevation forces (EF) applied during extraction, and to record forces during extraction of cheek teeth in both cadaver ...
Tom N. A. McGinley, Richard J. M. Reardon   +1 more
wiley   +1 more source

Production and characterization of human induced pluripotent stem cells (iPSCs) from Joubert Syndrome: CSSi001-A (2850)

Stem Cell Research, 2018
Joubert Syndrome (JS) is a rare autosomal recessive or X-linked condition characterized by a peculiar cerebellar malformation, known as the molar tooth sign (MTS), associated with other neurological phenotypes and multiorgan involvement.
Jessica Rosati, Filomena Altieri, Silvia Tardivo, Elisa Maria Turco, Marina Goldoni, Iolanda Spasari, Daniela Ferrari, Laura Bernardini, Giuseppe Lamorte, Enza Maria Valente, Angelo Luigi Vescovi   +10 more
doaj   +1 more source

Augmented Reality of Anatomical Structures of the Maxillomandibular Complex for Learning Dental Radiographic Techniques

Journal of Dental Education, EarlyView.
ABSTRACT Introduction Augmented reality (AR) enables interactive learning in real‐world environments. In dental radiography education, AR offers a promising tool to enhance students' clinical skills by allowing them to simulate and practice procedures before engaging with actual patients. Repeated practice in an AR environment can reinforce theoretical
Maitê Michel Piazza Willig, Mariana Boessio Vizzotto, Henrique Timm Vieira, Priscila Fernanda da Silveira Tiecher, Thiago de Oliveira Gamba, Nádia Assein Arús, Luis Ernesto Arriola‐Guillén, Heraldo Luís Dias da Silveira   +7 more
wiley   +1 more source

Addressing Perceived Barriers to Achieving Competency in Clinical Endodontics: A Mixed‐Methods Study

Journal of Dental Education, EarlyView.
ABSTRACT Purpose/Objectives The aim of this study was to assess predoctoral dental students’ satisfaction with faculty‐created educational content, aimed at reducing perceived barriers to achieving clinical competency in endodontics. Methods: This mixed‐methods study was conducted with third (D3)‐ and fourth (D4)‐year dental students at New York ...
Min‐Wen Fu, Ali Adil, Lucia Wang, Lorel E. Burns   +3 more
wiley   +1 more source

A Classical Sign with Uncommon Symptoms: Joubert Syndrome Presenting with Retinal Dystrophy and Keratoconus [PDF]

Journal of Clinical and Diagnostic Research
Joubert Syndrome and Related Disorders (JSRD) are a rare group of autosomal recessive ciliopathies characterised by the pathognomonic molar-tooth sign on Magnetic Resonance Imaging (MRI) of the brain. The clinical manifestations are usually multisystemic
Yeddula Pranay Raja, Shivam Gupta, Anupama K George, N Kamala, Nirmala Devi Chandrasekaran5   +4 more
doaj   +1 more source