Results 91 to 100 of about 2,273 (178)

Metabolic re-wiring of isogenic breast epithelial cell lines following epithelial to mesenchymal transition. [PDF]

, 2017
To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpithelial to mesenchymal transition (EMT) has implications in tumor progression
Barkovskaya, Anna, Choudhary, Kumari Sonal, Gudjonsson, Thorarinn, Gudmundsson, Steinn, Halldorsson, Skarphedinn, Hilmarsdottir, Bylgja, Knutsen, Erik, Magnusdottir, Manuela, Mælandsmo, Gunhild M, Perander, Maria, Rohatgi, Neha, Rolfsson, Óttar   +11 more
core   +3 more sources

A novel splice GCDH variant and analysis of splicing variants in glutaric aciduria type I

Egyptian Journal of Medical Human Genetics
Objectives Glutaric aciduria type I (GA-I) is an inborn error of metabolism caused by biallelic variants in the GCDH gene, disrupting lysine and tryptophan catabolism.
Nasrin Zamani, Mohammadi Sarband, Mirab Samiee, Amirhassan Rabbani, Bahman Akbari, Nejat Mahdieh, Bahareh Rabbani   +6 more
doaj   +1 more source

Expanded carrier screening: A current perspective [PDF]

, 2018
Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb, Berghella, V, Carbone, Luigi, D'Alessandro, P, De Vivo, V, Esposito, G, Giuliani, Arduino, Maruotti, Gm, Mastantuoni, Enrica, Paternoster, M, Raffone, A, Saccone, G, Zullo, F.   +12 more
core   +1 more source

Update on Genetic Chorea

European Journal of Neurology, Volume 32, Issue 10, October 2025.
This review provides an updated clinical and genetic framework for the differential diagnosis of hereditary chorea. It guides neurologists through the interpretation of phenomenology, ancillary tests, and appropriate genetic techniques to achieve an accurate and timely diagnosis.
Jesús Pérez‐Pérez, Gonzalo Olmedo‐Saura, Saül Martínez‐Horta, Sara Bernal, Javier Pagonabarraga, Jaime Kulisevsky   +5 more
wiley   +1 more source

Primary hyperoxaluria Type 1: organic aciduria diagnosed in plasma [PDF]

, 2013
Background: Primary hyperoxaluria Type 1 (PH1) is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase.
Dias, Aureliano, Rodrigues, Marilia, Valongo, Carla, Vilarinho, Laura   +3 more
core  

Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia [PDF]

, 2016
BACKGROUND: Inborn errors of metabolism (IEMs) are individually rare; however, they are collectively common. More than 600 human diseases caused by inborn errors of metabolism are now recognized, and this number is constantly increasing as new concepts ...
Abdullah Alzaben, Ahmed A. Alfares, Ali Al Othaim, Fuad Al Mutairi, Majid Alfadhel, Mohammad Arif Hossain, Mohammed Al Balwi, Mohammed Benmeakel, Wafaa Eyaid   +8 more
core   +1 more source

Seasonal Plasticity in Tryptophan Metabolism Provides New Insights Into Physiological Adaptation in Snake Hibernation

Ecology and Evolution, Volume 15, Issue 9, September 2025.
The microbial pathways of tryptophan metabolism predominate in active snakes, while the 5‐hydroxytryptamine pathway and kynurenine pathway govern tryptophan catabolism in hibernating snakes. ABSTRACT Hibernation is a common behavioral strategy for snakes to cope with extreme environments.
Yuting Wei, Zexiu Zhang, Xiaohong Lin, Gangning Wei, Pengyue Zhang, Huirong Mao, Biao Chen, Jianhao Ji, Yunlin Zheng, Zhiyi Luo, Xiaolong Hu   +10 more
wiley   +1 more source

Glutaric Aciduria type I and acute renal failure — Coincidence or causality?

Molecular Genetics and Metabolism Reports, 2014
Glutaric Aciduria type I (GA-I) is a rare organic acidemia, caused by mutations in the GCDH gene, and characterized by encephalopathic crises with neurological sequelae.
Ben Pode-Shakked, Dina Marek-Yagel, Marina Rubinshtein, Itai M. Pessach, Gideon Paret, Alexander Volkov, Yair Anikster, Danny Lotan   +7 more
doaj   +1 more source

Multi‐Omics Reveal the Metabolic Changes in Cumulus Cells During Aging

Cell Proliferation, Volume 58, Issue 8, August 2025.
Fatty acid β‐oxidation was elevated in cumulus cells from older mice. Tryptophan metabolism in aged cumulus cells was active. Supplementing with 5‐HT could mitigate aging damage in oocytes. ABSTRACT Maternal age has been reported to impair oocyte quality.
Liangyue Shi, Hengjie Wang, Shuai Zhu, Minjian Chen, Xuejiang Guo, Qiang Wang, Ling Gu   +6 more
wiley   +1 more source

Movement Disorders Presenting in Childhood. [PDF]

, 2016
PURPOSE OF REVIEW: This article provides an overview of movement disorders that present in childhood. Key clinical features are discussed, and a brief guide to management strategies is provided.
Dale, RC, Kurian, MA
core   +1 more source