Results 181 to 190 of about 64,681 (289)

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Auditory Stimulation of Slow‐Wave Sleep Promotes Recovery after Brain Injury in an Animal Model

Annals of Neurology, EarlyView.
Objective Traumatic brain injury (TBI) significantly reduces the quality of life for millions of survivors worldwide, causing persistent brain tissue damage and cognitive impairments, with no established therapeutic interventions currently available.
Carlos G. Moreira, Adrian Müllner, Meltem Gönel, Pascal Hofmann, Filipe Teixeira, Rosa C. Paolicelli, Inês Dias, Sergio I. Nemirovsky, Christian R. Baumann, Daniela Noain   +9 more
wiley   +1 more source

Zero-Knowledge Process Verification: A Comprehensive Framework for a Distributed Healthcare System. [PDF]

Blockchain Healthc Today
Krishnasamy S.
europepmc   +1 more source

Performance Evaluation of zk-SNARK Protocols for Privacy-Preserving Sensor Data Verification: A Systematic Benchmarking Study. [PDF]

Sensors (Basel)
Kuznetsov O, Kuznetsova Y, Ziyatbekova G, Kovalenko Y, Palahusynets R.   +4 more
europepmc   +1 more source

BAAR: A framework for blockchain-based anonymous and revocable user authentication scheme. [PDF]

PLoS One
Ahmed M, Ahmad A, Zeshan F, Akram S.
europepmc   +1 more source

The Role of Intraparticle Diffusion in Kinetic Model Discrimination: Proof of Concept Testing for Methanol Dehydration

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT The rate of a heterogeneous catalytic process may simultaneously be described by several rate equations. In this case, discrimination between the plausible kinetic models is required. An intrinsic kinetic model of a heterogeneous catalytic process may successively be discriminated by the transition from a reaction rate‐limited regime to an ...
Oleksii Zhokh, Andrii Trypolskyi, Peter Strizhak   +2 more
wiley   +1 more source

A zero-knowledge enabled dynamic sharding architecture for scalable decentralized smart contract execution in IOT environments. [PDF]

Sci Rep
Aman K, Ur Rehman A, Masood F, Azam S, Iqbal A, Mohmand MI, Husnain G.   +6 more
europepmc   +1 more source

Bringing Zero-Knowledge Proofs of Knowledge to Practice [PDF]

, 2013
Endre Bangerter, Stefania Barzan, Stephan Krenn, Ahmad-Reza Sadeghi, Thomas Schneider 0003, Joe-Kai Tsay   +5 more
openaire   +2 more sources

Quantum Phenomena in Molecular and Biological Systems: A Decoherence‐Based Decision Framework With Falsifiable Predictions and a Failure‐Mode Taxonomy

Advanced Physics Research, EarlyView.
A physics‐grounded framework based on decoherence timescales (τ_dec vs τ_func), Markovian validity, and falsifiability criteria is applied across molecular systems to distinguish where quantum effects are necessary, marginal, or irrelevant. The analysis integrates quantum chemistry, biological quantum mechanisms, and quantum computing under a unified ...
Sarfaraz K. Niazi
wiley   +1 more source