Results 191 to 200 of about 20,351 (260)

Evaluating putative lncRNA‐mediated ceRNA regulatory network involving miR396 and miR319 in maize leaf growth under Fusarium verticillioides infection

Annals of Applied Biology, Volume 189, Issue 1, July 2026.
The final leaf length of maize (Zea mays) was reduced due to the pathogenic fungus Fusarium verticillioides infection as a result of increased expression of miR396 in the elongation zone and decreased expression of miR319 in the mature zone of maize leaves, leading to antagonistic regulation of the expression of the GRF15 and TCP38, respectively ...
Erdem Emre Deligoz, Fatma Aydinoglu
wiley   +1 more source

A multiomic network approach uncovers disease modifying mechanisms of inborn errors of metabolism

Bender A, Ranea-Robles P, Williams EG, Mirzaian M, Heimel JA, Levelt CN, Wanders RJ, Aerts JM, Zhu J, Auwerx J, Houten SM, Argmann CA.   +11 more
europepmc   +1 more source

A novel, high throughput, and low-cost method for the detection of 40 amines relevant to inborn errors of metabolism, in under 60 min, using reverse phase high performance liquid chromatography. [PDF]

Mol Genet Metab Rep
Wilson KA, Zhou Y, Cunningham G, Chapman K, Summar M, Regier D.   +5 more
europepmc   +1 more source

Mucopolysaccharidosis IIID and Beta‐Mannosidosis in Brazilian Anglo‐Nubian Goats: Molecular and Genealogical Insights for the Development and Implementation of a Genetic Disease Eradication Program

Animal Genetics, Volume 57, Issue 3, June 2026.
ABSTRACT Beta mannosidosis and Mucopolysaccharidosis IIID are two autosomal recessive lysosomal storage diseases identified in Anglo‐Nubian goats. Even though they are well characterized from the clinical and molecular point of view, there is a gap in studies aiming to understand distribution and dissemination risk in goat populations throughout the ...
Flávia Caroline Moreira Bezerra, Lívia Samaniely Batista Pereira Belli, Joane Maíra Cavalcante Braga Novais, Adriana Mércia Guaratini Ibelli, Cássia Regina Oliveira Santos, Gisele Veneroni Gouveia, Alexandre Tadeu Mota Macedo, João José de Simoni Gouveia   +7 more
wiley   +1 more source

Newborn Screening for Inborn Errors of Metabolism by Next-Generation Sequencing Combined with Tandem Mass Spectrometry. [PDF]

Int J Neonatal Screen
Tang C, Li L, Chen T, Li Y, Zhu B, Zhang Y, Yin Y, Liu X, Huang C, Miao J, Zhu B, Wang X, Zou H, Han L, Feng J, Huang Y.   +15 more
europepmc   +1 more source

Implementation of First‐Line Rapid Genome Sequencing for Children in Pediatric and Cardiac Intensive Care Units

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1326-1336, June 2026.
ABSTRACT Substantial data supports the use of rapid exome and genome sequencing (rES/rGS) in Neonatal Intensive Care Units (NICU), but fewer studies have examined the impact of rES/rGS in other pediatric critical care units. We evaluated the impact on diagnostic yield and time to diagnosis following a single‐center hospital policy change allowing ...
Alexandra C. Keefe, Abbey A. Scott, Lukas Kruidenier, Jessie Conta, Darci L. Sternen, Sarah V. Clowes Candadai, Shannon M. Stasi, Julia Parish‐Morris, Megan Sikes, Margaret P. Adam, Anita E. Beck, Jennifer C. Hayek, Ian Glass, James T. Bennett, Ghayda Mirzaa, Paul Kruszka, Britt Johnson, Kirsty McWalter, Deborah Copenheaver, Bethany Friedman, Michael Bamshad, Katrina M. Dipple, Tara L. Wenger   +22 more
wiley   +1 more source

206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China. [PDF]

Front Genet
Xiao G, Feng Z, Xu C, Huang X, Chen M, Zhao M, Li Y, Gao Y, Wu S, Shen Y, Peng Y.   +10 more
europepmc   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1222-1230, June 2026.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

Incidence of Inborn Errors of Metabolism and Endocrine Disorders Among 40965 Newborn Infants at Riyadh Second Health Cluster of the Ministry of Health Saudi Arabia. [PDF]

Int J Neonatal Screen
Alshehri AS, Peer-Zada AA, Algadhi AA, Aldehaimi A, Saleh MA, Mushiba AM, Faqeih EA, AlAsmari AM.   +7 more
europepmc   +1 more source

[Detection of inborn errors of metabolism: guidelines in Mexico and other countries]. [PDF]

Rev Med Inst Mex Seguro Soc
Guerrero-Barrios S, Chiquillo-Domínguez M, Ayón-Aguilar J, Rodriguez-Alfaro SE, Méndez-Martínez S, García-Flores MA.   +5 more
europepmc   +1 more source