Results 41 to 50 of about 2,165 (162)

The Association Between Irritable Bowel Syndrome and Generalized Anxiety Disorder and Influencing Factors: A Mediation Mendelian Randomization Study

Food Science &Nutrition, Volume 14, Issue 2, February 2026.
Based on Mendelian randomization analysis, this study established a significant causal effect of irritable bowel syndrome (IBS) on increasing generalized anxiety disorder (GAD) risk (odds ratio = 1.328; p < 0.001) and identified dozens of gut microbial taxa, plasma metabolites, inflammatory factors, and immune cell characteristics with potential causal
Weili Yang, Yongxi Wang, Shasha Wang, Hongbing Zhai, Jun Che, Xin Wang, Yafeng Yang, Zebo Jia   +7 more
wiley   +1 more source

Advancing Sustainable Tourism in Svalbard by Assessing and Prioritizing Sustainable Development Goals (SDGs)

Sustainable Development, Volume 34, Issue 1, Page 873-903, February 2026.
ABSTRACT Tourism is a significant sector on the Svalbard archipelago. The increase in visitors and tourism activities has reshaped the local community of Longyearbyen, brought new economic opportunities, and put greater pressure on the local environment.
Julien Lebel, Anna G. Sveinsdóttir, Bjørn P. Kaltenborn, Grete K. Hovelsrud   +3 more
wiley   +1 more source

A Novel Homozygous Variant in the Aspartoacylase Gene Causes Canavan Disease-Case Report

Journal of Pediatric Research
Glu178 is the active site residue essential for substrate affinity and catalytic activity of the aspartoacylase enzyme. Sanger sequencing in an infant with Canavan disease revealed a homozygous ASPA: c.532G>A: p. (Glu178Lys) variant.
Archana Vaddinahalli Kariyappa, Shilpa Krishnapura Lakshminarayana, Dhanalakshmi Kumble, Kavitha Siddappa, Kalpana Ramesh Yelsangikar, Mallesh Kariyappa, Thotakura Pranga Lakshmi, Ashwin Dalal   +7 more
doaj   +1 more source

Canavan disease [PDF]

, 2020
Dena Matalon, Kimberlee Michals Matalon, Reuben Matalon   +2 more
  +6 more sources

Canavan Disease: Three case report

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Canavan disease, is an autosomal recessive disorder caused by decreased function of the enzyme aspartoacylase. The clinical symptoms include macrocephaly, hypotonia, developmental delay, seizures, optic atrophy and dystonia.
Faruk Incecik, Efsun Gargun Sizmaz, M. Ozlem Herguner, Sakir Altunbasak   +3 more
doaj  

Gene therapy for childhood neuromuscular and neurodegenerative disorders: An update

Indian Journal of Health Sciences and Biomedical Research KLEU, 2019
The central nervous system is a rather complex site for gene therapy as it contains neurons, astrocytes, and oligodendrocytes, and they have discrete and intricate interconnections between them, establishing a delicate balance.
Prateek Kumar Panda
doaj   +1 more source

Rebel responses to disasters in conflict zones: a case study of Cyclone Mocha in Myanmar

Disasters, Volume 50, Issue 1, January 2026.
Abstract Populations in conflict‐affected contexts face overlapping drivers of disaster risk. This article explores the intersection of disasters and armed conflict through an analysis of the role of non‐state armed groups, focusing on the Arakan Army (AA)'s response to Cyclone Mocha in Myanmar's Rakhine State in 2023.
Kyungmee Kim
wiley   +1 more source

Deep mutational scanning reveals a correlation between degradation and toxicity of thousands of aspartoacylase variants

Nature Communications
Unstable proteins are prone to form non-native interactions with other proteins and thereby may become toxic. To mitigate this, destabilized proteins are targeted by the protein quality control network. Here we present systematic studies of the cytosolic
Martin Grønbæk-Thygesen, Vasileios Voutsinos, Kristoffer E. Johansson, Thea K. Schulze, Matteo Cagiada, Line Pedersen, Lene Clausen, Snehal Nariya, Rachel L. Powell, Amelie Stein, Douglas M. Fowler, Kresten Lindorff-Larsen, Rasmus Hartmann-Petersen   +12 more
doaj   +1 more source

NGS-based expanded carrier screening for genetic disorders in North Indian population reveals unexpected results – a pilot study

BMC Medical Genetics, 2020
Background To determine the carrier frequency and pathogenic variants of common genetic disorders in the north Indian population by using next generation sequencing (NGS).
Kanika Singh, Sunita Bijarnia-Mahay, V. L. Ramprasad, Ratna Dua Puri, Sandhya Nair, Sheetal Sharda, Renu Saxena, Sudha Kohli, Samarth Kulshreshtha, Indrani Ganguli, Kanwal Gujral, Ishwar C. Verma   +11 more
doaj   +1 more source

Bioassembly of Region‐Specific Fibrocartilage Microtissues to Engineer Zonally Defined Meniscal Grafts

Advanced Healthcare Materials, Volume 14, Issue 32, December 19, 2025.
Meniscal microtissues are fabricated using progenitor cells isolated from the inner (iMPCs) and outer (oMPCs) regions of the meniscus. Meniscal microtissues fuse into cohesive constructs rich in sGAG and collagen. cABC treatment modulates collagen fiber formation and organization in assembled grafts.
Gabriela S. Kronemberger, Kaoutar Chattahy, Francesca D. Spagnuolo, Aliaa S. Karam, Daniel J. Kelly   +4 more
wiley   +1 more source