Results 101 to 110 of about 21,421 (302)

Chromosome‐scale genome assembly of the South American fruit fly, Anastrepha fraterculus sp.1

Insect Science, EarlyView.
Anastrepha fraterculus sp. 1 is a major fruit fly pest in Argentina, currently controlled through chemical treatments and traps. This study aims to enhance the genomic understanding of this species to support the development of sterile insect technique as well as the use of innovative technologies.
Máximo Rivarola, Claudia A. Conte, Pierre Berube, Shu‐Huang Chen, M. Cecilia Giardini, Alejandra C. Scannapieco, Fabián H. Milla, María C. Soria, Romina M. Russo, Juan P. Wulff, Haig H. Djambazian, Rolando R. Pomar, Alfred M. Handler, Kostas Bourtzis, Ioannis Ragoussis, Silvia B. Lanzavecchia   +15 more
wiley   +1 more source

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

Genetics and Molecular Biology, 2019
Organic acidurias and aminoacidopathies are groups of frequent inborn errors of metabolism (IEMs), which are caused by mutations in specific genes that lead to loss of protein/enzyme or transport function with important deleterious effects to cell ...
Moacir Wajner, Angela Sitta, Aline Kayser, Marion Deon, Ana C. Groehs, Daniella M. Coelho, Carmen R. Vargas   +6 more
doaj   +1 more source

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

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

Clinical characteristics of adult patients with inborn errors of metabolism in Spain: A review of 500 cases from university hospitals

Molecular Genetics and Metabolism Reports, 2017
Patients with inborn errors of metabolism (IEMs) have become an emerging and challenging group in the adult healthcare system whose needs should be known in order to implement appropriate policies and to adapt adult clinical departments.
J. Pérez-López, L. Ceberio-Hualde, J.S. García-Morillo, J.M. Grau-Junyent, A. Hermida Ameijeiras, M. López-Rodríguez, J.C. Milisenda, M. Moltó Abad, M. Morales-Conejo, J.J. Nava Mateos   +9 more
doaj   +1 more source

Maternal plasma docosahexaenoic acid (DHA) concentrations increase at the critical time of neural tube closure [PDF]

, 2017
No abstract ...
Freeman, Dilys J., Meyer, Barbara J.
core  

The return of metabolism: biochemistry and physiology of glycolysis

Biological Reviews, EarlyView.
ABSTRACT Glycolysis is a fundamental metabolic pathway central to the bioenergetics and physiology of virtually all living organisms. In this comprehensive review, we explore the intricate biochemical principles and evolutionary origins of glycolytic pathways, from the classical Embden–Meyerhof–Parnas (EMP) pathway in humans to various prokaryotic and ...
Nana‐Maria Grüning, Federica Agostini, Camila Caldana, Johannes Hartl, Matthias Heinemann, Markus A. Keller, Jan Lukas Krüsemann, Costanza Lamperti, Carole L. Linster, Steffen N. Lindner, Julia Muenzner, Jens Nielsen, Zoran Nikoloski, Bettina Siebers, Jacky L. Snoep, Hezi Tenenboim, Bas Teusink, Spencer J. Williams, Mirjam M. C. Wamelink, Markus Ralser   +19 more
wiley   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, EarlyView.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

A multiplexed LC-MS/MS assay for comprehensive screening of amino acid metabolism disorders

Talanta Open
Advancements in liquid chromatography-tandem mass spectrometry (LC-MS/MS) are redefining the landscape of clinical diagnostics, particularly in the context of newborn screening for inborn errors of metabolism.
Jisha Chandran, Madan Gopal Ramarajan, Vykuntaraju Kammasandra Nanjundagowda, Aruna Gowdra, Jayesh Warade, Anikha Bellad, Kannan Rangiah   +6 more
doaj   +1 more source

Tryptophan Suppresses FTH1‐Driven Ferritinophagy, a Key Correlate of Prognosis in Hepatocellular Carcinoma

Cell Proliferation, EarlyView.
Intracellular tryptophan levels modulate selective autophagy of FTH1 via the NCOA4 pathway. This autophagic process then inhibits 6‐HMT synthesis, which then results in an increase in reactive oxygen species and ferroptosis. ABSTRACT Hepatocellular carcinoma (HCC) remains a lethal malignancy with limited therapeutic options.
Xinxiang Cheng, Xin Ge, Chi Zhang, Xingye Yang, Zhengxin Yu, Min Zhang, Wen Cao, Qingtao Ni, Yang Liu, Songbing He, Yin Yuan   +10 more
wiley   +1 more source