Results 41 to 50 of about 7,925 (226)

Spectrum of Phenylalanine Hydroxylase Gene Mutations in Hamadan and Lorestan Provinces of Iran and Their Associations with Variable Number of Tandem Repeat Alleles

Iranian Journal of Medical Sciences, 2018
Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The present study aimed to investigate the status of molecular defects in phenylalanine hydroxylase (PAH) gene in western Iranian PKU patients (predominantly from ...
Reza Alibakhshi, Keivan Moradi, Mostafa Biglari, Samaneh Shafieenia   +3 more
doaj  

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

T‐800: An 800 Hz Data Glove for Precise Hand Gesture Tracking

SmartBot, EarlyView.
Hand motion capture provides critical insights into human dexterity and facilitates advancements in robotic manipulation, yet existing systems are limited by a trade‐off between temporal resolution and visual occlusion. Here, the authors present T‐800, a high‐bandwidth data glove achieving synchronized full‐hand motion capturing at 800 Hz.
Haoyang Luo, Zihang Zhao, Leiyao Cui, Saiyao Zhang, Liu Yang, Zhi Han, Xiyuan Tang, Yixin Zhu   +7 more
wiley   +1 more source

Silencing of juvenile hormone‐related genes through RNA interference leads to molt failure and high mortality in the spongy moth

Insect Science, EarlyView.
The feasibility of using RNA interference to control the globally important quarantine pest, the spongy moth. Targeting genes related to JHs play an important role in the growth and development of insects. First, the open reading frames (ORFs) of Ldjhamt and Ldjheh were identified and characterized, and the target genes were cloned and double‐stranded ...
Wenzhuai Ji, Qing Xie, Xiaoxiao Chang, Juan Shi   +3 more
wiley   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, EarlyView.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Phenylketonuria [PDF]

BMJ, 1963
J D, ALLAN, K S, HOLT, F P, HUDSON, J T, IRELAND   +3 more
openaire   +2 more sources

Asymmetric sanctions and corruption: Theory and practice in China

Economic Inquiry, EarlyView.
Abstract Asymmetric punishment of partners in crime, intended to incentivize whistle‐blowing, may increase detection and deterrence. The idea is age‐old but its use against corruption is not frequent. We study a 1997 Chinese reform that strengthened such asymmetries for some forms of bribery.
Maria Perrotta Berlin, Martin Dufwenberg, Bei Qin, Giancarlo Spagnolo   +3 more
wiley   +1 more source

Shikimate pathway disruption in yeast induces metabolite self‐assembly into toxic aggregates

The FEBS Journal, EarlyView.
In Saccharomyces cerevisiae, shikimate pathway disruption induces toxic metabolite assemblies. Deleting ARO4 plus phenylalanine (Phe) feeding causes Phenylalanine accumulation, lowers ARO3 activity, and triggers amyloid‐like fibril formation. Deleting ARO3 plus tyrosine (Tyr) feeding leads to Tyrosine buildup and similar fibril assembly.
Hanaa Adsi, Myra Gartner, Claris Simovich, Lihi Gershon, Alexander Brandis, Ehud Gazit, Dana Laor Bar‐Yosef   +6 more
wiley   +1 more source

How Different Patterns of Policy Attention Drive Policy Diffusion: Evidence From China's River Chief System

Policy Studies Journal, EarlyView.
ABSTRACT Despite extensive research on policy diffusion, the ways in which policy attention influences this process remain underexplored. This study addressed this gap by distinguishing between three types of policy attention—political speeches, policy issuance and field visits—and investigating their differential impacts when delivered by central and ...
Xiangning Chen, Yahua Wang
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source