Results 221 to 230 of about 2,386,323 (274)

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

Judicial review of algorithmic administrative systems legality evidence and remedies in the smart city state. [PDF]

Front Artif Intell
Ameen KS, Towfiq TA, Mousa KM, Pooyanmehr M.   +3 more
europepmc   +1 more source

The Role of Glutamatergic and Dopaminergic Genes in Resistant Schizophrenia: A Systematic Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Psychosis is a heterogeneous disorder, with approximately one‐third of patients experiencing treatment resistance, predominantly among individuals diagnosed with Schizophrenia. Treatment‐resistant schizophrenia (TRS) may stem from a distinct biological signature, involving abnormalities in the dopaminergic and glutamatergic systems.
Maria Teresa Moreno‐Calle, Silvia Iñiguez‐Barrio, Maria Aurora Arrue, Leire Erkoreka   +3 more
wiley   +1 more source

Autonomous Driving Open Road Complexity Classification. [PDF]

Sensors (Basel)
Yue H, Jia Y, Li T.
europepmc   +1 more source

Artificial Intelligence and Access to Justice at the ‘Shop Front’: The Potential and Limitations of Meeting Legal Need Through Technology

Australian Journal of Social Issues, EarlyView.
ABSTRACT In Australia, governments fund Community Legal Centres (CLCs) as part of the legal assistance sector (LAS) to meet the ‘legal needs’ of people experiencing disadvantage who cannot afford private legal services. Persistent unmet demand for CLCs is well‐documented. As artificial intelligence (AI) is increasingly used in private legal practice to
Catherine Hastings, Art Cotterell, Farzana Bruce   +2 more
wiley   +1 more source

Use of Probiotics with Antibiotics: Knowledge, Attitudes, and Practices in Community Pharmacy. [PDF]

Healthcare (Basel)
Naumovska Z, Djurdjic B, Mladenovska K, Atanasovska E, Petreska Ivanovska T, Tasevska T, Stavrikj K, Bozhinovska B, Andonoska J, Smilkov K, Crcarevska MS.   +10 more
europepmc   +1 more source

A self‐retaining mouth prop for intraoral access during periodontal surgery in rat models: A technical note

Animal Models and Experimental Medicine, EarlyView.
A mouth prop designed to mimic the oral cavity of rats was made that provided stable, self‐retaining retraction, thereby facilitating oral surgery on rodents. Compared to conventional methods, it decreased surgical time, operator fatigue, and slippage. Its use led to higher efficiency and fewer complications and it was cost effective to produce.
Saravanan Sampoornam Pape Reddy, Delfin Lovelina Francis, Vivek Kumar Thakur, Balaji Manohar, Shaili Pradhan, Shesh Rai   +5 more
wiley   +1 more source

A framework for evaluating biosafety and biosecurity in national network of biosafety level-3 laboratories in India: an initiative under national one health mission. [PDF]

Front Bioeng Biotechnol
Patil DY, Sahay RR, Shete A, Velayudhan A, Kaur H, Upadhyay A, Barde P, Deshpande GR, Nalavade UP, Pawar SD, Kanitkar M, Gupta N, Yadav PD, Members of the National network of BSL-3 laboratories.   +13 more
europepmc   +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

A method description for developing critical reading skills through a digital platform based on Barrett's taxonomy. [PDF]

MethodsX
Turakulova B, Samatova B, Raxmonova M, Rahmonova D, Ganiyeva G, Jumamurodova U, Norkuziyeva D.   +6 more
europepmc   +1 more source