Results 121 to 130 of about 3,033,166 (245)

ClinGen expert clinical validity curation of 164 hearing loss gene-disease pairs

, 2019
: Purpose Proper interpretation of genomic variants is critical to successful medical decision making based on genetic testing results. A fundamental prerequisite to accurate variant interpretation is the clear understanding of the clinical validity of ...
Oza, Andrea M., DiStefano, Marina T., Hemphill, Sarah E., Van Camp, Guy, et al.   +4 more
core  

Patient‐Derived Fibroblasts as a Clinically Relevant Model of Kearns–Sayre Syndrome

Annals of Neurology, EarlyView.
Objective Kearns–Sayre syndrome (KSS) is characterized by single large‐scale mitochondrial DNA deletions and by severe early‐onset clinical manifestations with neurological involvement. Reliable disease models, as well as validated biomarkers or effective treatments, are lacking.
Laura Valls‐Roca, Adrià Vilaseca‐Capel, Judith Cantó‐Santos, Ester Tobías, Félix Andújar‐Sánchez, Laia Farré‐Tarrats, Frederic Tort, Carles Rentero, Carlos Enrich, Virginia López, Juan R. Tejedor, Anna Esteve‐Codina, Cristina Núñez de Arenas, Pedro J. Moreno‐Lozano, José C. Milisenda, Mar O'Callaghan, Teresa García‐Silva, Montserrat Morales‐Conejo, Mario F. Fraga, Rafael Artuch, Miguel Á. Martín, José M. Cuezva, Ana Matas, Glòria Garrabou, Mariona Guitart‐Mampel   +24 more
wiley   +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

Are there morpho‐acoustic patterns of adaptation in nonhuman primate ears? Testing the role of ecology and habitat in shaping ear morphology and function

The Anatomical Record, EarlyView.
Abstract Analysis of the variation in the bony structures of the inner and middle ear provides critical insights into functional morphology, as well as adaptive morphology across primates. In this study, we investigated whether ear morphology patterns are related to the ecological characteristics of species and their habitats to test two acoustic ...
Myriam Marsot, Rémi Laffont, Émilie Steimetz, Patricia Balaresque, Sébastien Couette   +4 more
wiley   +1 more source

Statistical shape modeling of the human inner ear through micro‐computed tomography imaging

The Anatomical Record, EarlyView.
In this study, 54 cadaveric temporal bone specimens underwent high‐resolution micro‐CT imaging. Images were semi‐automatically segmented and converted to 3D surface mesh models for morphological measurement and analysis. Statistical shape models were created for the inner ear, cochlea, and vestibular system, as well as for sex‐ and side‐based subgroups.
Carmine Spedaliere, Alexandra Vaupotic, Jaehyun Hwang, Khalil Husein, Mustafa Hafidh, Kyle Rioux, S. Alireza Rohani, Sumit K. Agrawal, Hanif M. Ladak   +8 more
wiley   +1 more source

Redescription of the Triassic cynodont Cistecynodon parvus and reassessment of its phylogeny

The Anatomical Record, EarlyView.
Abstract Cynodontia is an important subclade of Therapsida that first occurred in the late Permian. It includes extinct subclades which are the non‐mammaliaform cynodonts and Mammaliaformes, with the latter ultimately giving rise to crown mammals. The systematics of non‐mammaliaform cynodonts has been extensively studied and is relatively well‐resolved,
Erin S. Lund, Frederik P. Wolvaardt, Roger M. H. Smith, Jaganmoy Jodder, Julien Benoit   +4 more
wiley   +1 more source

The petrotympanic canal (Huguier canal): Evolutionary, anatomical, and medical perspectives

The Anatomical Record, EarlyView.
Abstract The petrotympanic canal, traditionally referred to as Civinini's or Huguier's canal, represents an anatomical passage connecting the middle ear and temporomandibular joint (TMJ). Despite its early description, its structural complexity and functional significance have often been underestimated. In this study, we combined historical, anatomical,
Andrea Papini, Nicola Montemurro, Ferdinando Paternostro, Immacolata Belviso, Massimo Galli, Petra Martini, Licia Uccelli, Jacopo Moggi‐Cecchi, Gregorio Oxilia   +8 more
wiley   +1 more source

Clade‐wide morphological and functional variation of the sauropsid columella

The Anatomical Record, EarlyView.
Abstract The columella (=stapes) is the middle ear bone of reptiles that transmits vibrations from the environment to the inner ear. It has been shown to exhibit extensive interspecific morphological disparity in several clades; however, its morphological variation and associated functional consequences remain poorly described.
John Peacock, Serjoscha W. Evers, Tiago R. Simões, Garth M. Spellman, Daniel J. Field   +4 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

Animal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan, Jialei Chen, Chuzhao Lei, Fengwei Zhang, Shunzhong He, Weiru Song, Hongyan Ma, Shuling Li, Guomei Li, Laba Yongcuo, Jianlin Han, Johannes A. Lenstra, Qiang Zhang, Rende Song, Basang Wangdui, Ningbo Chen   +15 more
wiley   +1 more source