Results 131 to 140 of about 4,139 (244)

PUS7 Deficiency: Phenotypical Expansion of PUS7‐Related Neurodevelopmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in PUS7, encoding pseudouridine synthase 7, cause a rare neurodevelopmental disorder marked by intellectual disability, microcephaly, short stature, and behavioral disturbances. Since the first report in 2018, only 16 patients have been described.
Alice Muda, Barbara Belmessieri, Patrizia Accorsi, Jessica Galli, Edoardo Errichiello, Lucio Giordano   +5 more
wiley   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

Complications and Clinical Outcomes Following Modified Endoscopic Denker's With Pyriform Aperture Preservation: A Prospective Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The modified endoscopic Denker's (MED) approach provides access to all maxillary sinus (MS) walls for resection of various MS and retromaxillary pathologies, but the anteromedial maxilla has historically been resected. This study determined complication rates and outcomes following MED with pyriform aperture (PA) preservation ...
Yasser Almansour, Lane Donaldson, Khaled Kashlan, Swapna Vemuri, Jun Jin, John R. Craig   +5 more
wiley   +1 more source

Recent advances in the construction of humanized animal models and applications in translational medicine

Animal Models and Experimental Medicine, EarlyView.
Substantial advances have been achieved in the development of humanized mouse models, which have proven highly valuable in evaluating cancer immunotherapies and elucidating the mechanisms of infectious diseases. There is now a growing shift in research toward larger animal models—such as pigs—that offer greater physiological similarity to humans ...
Yanan Lyu, Yong‐Guang Yang, Zheng Hu
wiley   +1 more source

Natural Aging of Biomaterials in Ambient and Physiological Environments

Advanced NanoBiomed Research, EarlyView.
Biomaterials used in biomedical applications can change their physical properties over time, even under ambient and physiological conditions. This review highlights key studies on the natural aging of materials ranging from soft hydrogels to metals and ceramics, emphasizing how time‐dependent changes influence function and performance.
Shuyu Zhang, Anne E. Staples
wiley   +1 more source

Making porcelain veneers with the Procera AllCeram system: case studies

, 2003
Different laboratory techniques are available for making porcelain veneers, and each has its own advantages and limitations. This article describes how high-density alumina core constructed with Computer Assisted Design/Computer Assisted Manufacture (CAD/
Andersson, B, Chow, TW, Chu, FCS, Deng, FL   +3 more
core  

Inter‐microscope comparability of dental microwear texture data obtained from different optical profilometers: Part II Deriving instrument‐specific correction equations for meta‐analyses using published data

The Anatomical Record, EarlyView.
Abstract Dental microwear texture analysis (DMTA) has emerged as a valuable method for investigating the feeding ecology of vertebrates. Over the past decade, three‐dimensional topographic data from microscopic regions of tooth surfaces have been collected, and surface texture parameters have been published for both extant and fossil species.
Mugino O. Kubo, T. Kubo, Ellen Schulz‐Kornas, T. M. Kaiser, Daniela E. Winkler   +4 more
wiley   +1 more source

The relationship between form and function of the carnivore mandible

The Anatomical Record, EarlyView.
Abstract Dietary morphology diversified extensively in Carnivoraformes (living Carnivora and their stem relatives) during the Cenozoic (the last 66 million years) as they evolved to capture, handle, and process new animal and plant diets. We used 3D geometric morphometrics, mechanical advantage, and finite element analysis to test the evolutionary ...
Charles J. Salcido, P. David Polly
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

Early Pliocene Varanus (Squamata, Varanidae) remains from Megalo Emvolon, Thessaloniki, Greece

The Anatomical Record, EarlyView.
The article describes new cranial and postcranial varanid material from Megalo Emvolon Lower Pliocene vertebrate fossil site near Thessaloniki. The fossils, likely representing a single individual, are referred to Varanus cf. marathonensis. Abstract This study describes new fossil varanid material from a recently discovered fossil spot (MVL site) at ...
Chara Drakopoulou, Georgios L. Georgalis, Georgios Lazaridis, Dimitris S. Kostopoulos   +3 more
wiley   +1 more source