Results 91 to 100 of about 53,616 (259)

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

Re-emergence of foot-and-mouth disease in the Republic of Korea caused by the O/ME-SA/Ind-2001e lineage

Frontiers in Veterinary Science
The O/ME-SA/Ind-2001e foot-and-mouth disease virus (FMDV) lineage is a pandemic strain that has recently become dominant within East and Southeast Asia. During May 2023, this viral lineage spread to the Republic of Korea, where 11 outbreaks were detected
Soyoon Ryoo, Hyeonjeong Kang, Da-Rae Lim, Jae-Myung Kim, Youngwoo Won, Ji Ye Kim, Donald P. King, Antonello Di Nardo, Sang-Ho Cha   +8 more
doaj   +1 more source

Arthrogryposis Multiplex Congenita in Pediatric Age: Correlation Between MUScular MRI and Functional Evaluation (AMUSE), Toward a Biomechanical Model

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) is a group of diseases with joint limitations at two or more distinct joint levels at birth. Joint limitations are not progressive, but the functional consequences have a lifelong impact on patients. The management of these conditions is therefore demanding, necessarily multidisciplinary, and is a long ...
Alicia‐Marine Milot, Mariya Raykova, Claire Huzar, Véronique Thellier, Nicolas Hergibo, Marjolaine Gauthier, Gipsy Billy‐Lopez, Chantal Durand, Frédérique Nugues, Véronique Bourg, Klaus Dieterich   +10 more
wiley   +1 more source

Efficacy and Predictors of Response to Biologic Therapy and Endoscopic Sinus Surgery in Patients With Nasal Polyps: A Systematic Review

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologics and endoscopic sinus surgery (ESS) treat refractory chronic rhinosinusitis with nasal polyposis (CRSwNP), but direct comparisons are lacking. We synthesized efficacy and subgroup data across randomized controlled trials (RCTs) of biologics and ESS.
Arun Chakravorty, Matthew E. Lin, Rory Lubner, Jess C. Mace, Jeffrey Suh, Jivianne Lee, Marilene Wang, Sarah Wise, Naweed Chowdhury, Zachary M. Soler, Justin Turner, Timothy L. Smith, Myung Sim, Daniel M. Beswick   +13 more
wiley   +1 more source

Hand, Foot, and Mouth Disease [PDF]

JAMA, 2018
Brittany, Cox, Fatma, Levent
openaire   +2 more sources

Animal stroke models and outcome evaluation: A review

Animal Models and Experimental Medicine, EarlyView.
Rodents are the preeminent stroke model species. Large animal models exist too, but are poorly standardized. Ischemic and hemorrhagic experimental models are available, with the intraluminal filament model being predominant. Outcomes are evaluated via quantifying subjects' sensorimotor impairment, cognitive memory faculties, degree of cellular ...
Solsa Cariba, Helen M. Atkinson, Anthony K. C. Chan   +2 more
wiley   +1 more source

Bioinformatics based design of thermostable virus-like particles-based vaccine for foot-and-mouth disease serotype A and in-vivo evaluation in guinea pigs

Frontiers in Cellular and Infection Microbiology
BackgroundFoot-and-mouth disease (FMD) is a contagious disease affecting cloven footed animals. Existing vaccines although effective, has limitations of short immunity, needs cold chain maintenance, high biosafety levels facilities for production and ...
Deepak Praveen Raj Selvaraj, Paramasivam Saravanan, Aparna Madhavan, Das Adwitiya, Chandan Tilak, Beeragere Parameshwaraiah Sreenivasa, Shreya Gopinath, Sekar Elackiya, Saravanamuthu Thiyagarajan, Pallab Chaudhuri   +9 more
doaj   +1 more source

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

Animal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu, Aosi Qi, Shuyu Zhong, Haozhen Du, Shimeng Guo, Hongsheng Ouyang, Hongming Yuan, Daxin Pang, Zicong Xie   +8 more
wiley   +1 more source

Evaluation of an In-House Developed Foot-and-Mouth Disease Virus SAT 3 Vaccine Strain Based on Antigen Productivity and Inactivation Kinetics for Commercial Feasibility

Vaccines
Background: In the Republic of Korea, a bivalent foot-and-mouth disease (FMD) vaccine covering serotypes O and A is administered to livestock, while antigens for the other serotypes are stockpiled in overseas antigen banks.
Jae Young Kim, Sun Young Park, Gyeongmin Lee, Giyoun Cho, Seung-A Hwangbo, Jong-Hyeon Park, Young-Joon Ko   +6 more
doaj   +1 more source