Results 41 to 50 of about 31,821 (258)

TTC21B: From Modifier to Causative Gene in Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic pathogenic variants in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are a known cause of renal and skeletal ciliopathies. Single heterozygous variants in this gene were found to be enriched in a cohort of patients with various ciliopathy phenotypes, including three individuals with Joubert syndrome (JS), a
Valentina Serpieri, Fulvio D'Abrusco, Anna Pichiecchio, Thouraya Ben Younes, Ichraf Kraoua, Enza Maria Valente   +5 more
wiley   +1 more source

Ectodermal dysplasia: a narrative review of the clinical and biological aspects relevant to oral health

Frontiers in Pediatrics
Ectodermal dysplasias (ED) are disorders that affect ectodermal-derived tissues during embryonic development. These disorders occur when the ectoderm, the outermost layer of embryonic tissue does not develop normally.
Ana Carolina Morandini, Oluwatomisin Adeogun, Megan Black, Emily Holman, Kaitlyn Collins, Wesley James, Laura Lally, Ashley Fordyce, Rachel Dobbs, Eve McDaniel, Hannah Putnam, Michael Milano   +11 more
doaj   +1 more source

Genetic Variants of Na+,K+‐ATPase Associated With Neurological Disorders: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Neurological disorders encompass a wide range of severe symptoms and manifestations, many of which are associated with genetic variants that affect ionic homeostasis. Na+,K+‐ATPase, a transmembrane enzyme responsible for maintaining electrochemical gradients in cells, plays a crucial role in neuronal excitability and brain function.
Giovana Kummer da Rosa, Leandro Rodrigo Ribeiro, Jéssica Lorena Bariviera, Mauro Schneider Oliveira   +3 more
wiley   +1 more source

Facial Skeletal Pattern Analysis in Patients with Maxillary Canine Impaction or Missing Lateral Incisor [PDF]

Journal of Mashhad Dental School
Background: The space caused by an impacted maxillary canine or missing lateral incisor, can lead to malocclusion and dental crowding. This study aimed to examine the skeletal pattern of patients with impaction or missing of maxillary canine or lateral ...
Azam Ahmadian Yazdi, Ali Bagherpour, Aysan Hamzeh, Mahboobe Dehghani, Iman Shiezadeh   +4 more
doaj   +1 more source

Establishing Sensory Neurons as Therapeutic Targets in Peripheral Neuropathy Driven by Polyglutamine Expanded Murine ATXN3

Annals of Neurology, EarlyView.
Repeat expansion disorders frequently involve peripheral neuropathy, yet mechanisms remain unclear. Using a spinocerebellar ataxia type 3 (SCA3) Knock‐In Atxn3Q300/Q6, we identify progressive sensorimotor deficits, peripheral nerve pathology, and dorsal root ganglia RNA splicing dysregulation.
Juan P. Mato, John M. Hayes, Jacen Emerson, Maeha Sridharan, Toluwani Adelaja, Arsal Naeem, Alexandra F. Putka, Hayley S. McLoughlin   +7 more
wiley   +1 more source

Small RNAs and tooth development: The role of microRNAs in tooth agenesis and impaction

Journal of Dental Sciences
Background/purpose: Tooth development, or odontogenesis, is a complex process in which several molecular pathways play a key role. Recently, microRNAs, a class of approximately 20-nucleotide small RNA molecules that regulate gene expression, have been ...
Agnese Giovannetti, Rosanna Guarnieri, Francesco Petrizzelli, Sara Lazzari, Gabriella Padalino, Alice Traversa, Alessandro Napoli, Roberto Di Giorgio, Antonio Pizzuti, Chiara Parisi, Tommaso Mazza, Ersilia Barbato, Viviana Caputo   +12 more
doaj   +1 more source

Biallelic PIGB Variants Cause Motor Neuropathy with Conduction Blocks and Peripheral Nerve Hyperexcitability

Annals of Neurology, EarlyView.
Objective Glycosylphosphatidylinositol (GPI)‐anchored proteins play critical roles in nervous system function. Pathogenic variants in genes involved in GPI‐anchor biosynthesis cause early‐onset multisystem disorders known as inherited GPI deficiencies. We describe a novel neuromuscular phenotype associated with PIGB deficiency.
Gorka Fernández‐Eulate, Romain Duval, Marina Konyukh, Alessandro Bertini, Ayse Candayan, Albena Jordanova, Theresa Brunet, Wolfgang Müller‐Felber, Helena F. Pernice, Katrin Hahn, Nadja Ehmke, Juliane Beuschlein, Bertrand Isidor, Benjamin Cogné, Yann Péréon, Annabelle Chaussenot, John Rendu, Aysylu Murtazina, Dmitrii Subbotin, Artem Borovikov, Andrey Marakhonov, Chiara Pisciotta, Paola Saveri, Daniele Cazzato, Lucie Lemeray, Bérengère Koehl, Jean‐Madeleine de Sainte‐Agathe, Stefano Facchini, Ilaria Quartesan, Andrea Cortese, Yesim Parman, Arman Cakar, Davide Pareyson, Slim Azouzi, Tanya Stojkovic   +34 more
wiley   +1 more source

Tooth row allometry in domestic rabbits and nondomestic lagomorphs: Evidence for a decoupling of body and tooth row size changes in evolutionary time

The Anatomical Record, EarlyView.
Domestic rabbits of different body sizes differ disproportionately in the length of their tooth row or the length of their diastema. Abstract In various domestic mammals, smaller breeds tend to have proportionally larger teeth, whereas this is not a universal trend across mammals.
Ursina L. Fasciati, Christine Böhmer, Stefanie Ohlerth, Marcus Clauss   +3 more
wiley   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

Evaluation of Canine Transpositions and Related Dental Anomalies in a Turkish Pediatric Population

Pesquisa Brasileira em Odontopediatria e Clínica Integrada, 2022
Objective: To investigate the prevalence and characteristics of canine transpositions and to evaluate associated dental anomalies in a pediatric population.
Esra Oz, Zuhal Kırzıoglu
doaj