Results 41 to 50 of about 18,550 (219)

Integrating Human Intestinal Organoids into FDA'S New Approach Methodologies for Drug Discovery

Advanced Science, EarlyView.
Illustration summarizes how human intestinal organoids (HIOs) are becoming transformative in preclinical research. Preclinical drug discovery pipelines often rely on animal models for ADMET studies, even though interspecies ADME gaps, poor external validity, and high attrition rates are common.
Debarun Patra, Ibrahim M. Sayed, Souhrid Mukherjee, Honit Piplani, Aida Habtezion, Michael J. Rosen, Jospeh C. Wu   +6 more
wiley   +1 more source

Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management

Acta Médica Portuguesa
Glutaric aciduria type 1 is an inherited metabolic disorder associated with subdural hematomas, possibly due to the widening of external cerebrospinal fluid spaces.
Lúcia Marques, Patrícia Lipari Pinto, Hugo Loureiro Cadilha, Patrícia Janeiro, Ana Gaspar   +4 more
doaj   +1 more source

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria [PDF]

, 2019
Methylmalonic acidemia (MMA) is a propionate pathway disorder caused by dysfunction of the mitochondrial enzyme methylmalonyl-CoA mutase (MMUT). MMUT catalyzes the conversion of methylmalonyl-CoA to succinyl-CoA, an anaplerotic reaction which feeds into ...
Baumgartner, Matthias R, Chapman, Kimberly A, Cunningham, Gary, Forny, Patrick, Pumbo, Elena, Summar, Marshall L, Wongkittichote, Parith   +6 more
core   +1 more source

Ammonia toxicity: from head to toe? [PDF]

, 2016
Ammonia is diffused and transported across all plasma membranes. This entails that hyperammonemia leads to an increase in ammonia in all organs and tissues.
Dasarathy, Srinivasan, Mookerjee, Rajeshwar P., Ott, Peter, Rackayova, Veronika, Rangroo Thrane, Vinita, Rose, Christopher, Vairappan, Balasubramaniyan   +6 more
core   +1 more source

Maize Anther Development Involves Translated Open Reading Frames From 3′ Untranslated Regions

Advanced Science, EarlyView.
This study examined the translation activity across ten stages of maize anther development, integrating transcriptome and small‐peptide data. It linked mutations in translated 3' ORFs to anther sterility, exemplified by Zm00001eb417050_3' ORF (known as APV1). In addition, the data indicated that maize anthers could assimilate CO2 through the stomata in
Chunyu Wang, Yuechao Wu, Shunxi Wang, Han Liu, Siqi Jiang, Yingjia Han, Liuji Wu, Tao Zhang, Mei Zhang   +8 more
wiley   +1 more source

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

Advanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang, Yuanyuan Zhang, Choulin Chen, Xiaoxian Xu, Shenghua Qin, Junyan Qi, Yongzhou Bao, Huiming Li, Ruipu Chen, Weigang Zheng, Zhilong Chen, Lingzhao Fang, Yunxiang Zhao, Yuwen Liu   +13 more
wiley   +1 more source

Metabolomics of dietary fatty acid restriction in patients with phenylketonuria [PDF]

, 2012
Patients with phenylketonuria (PKU) have to follow a lifelong phenylalanine restricted diet. This type of diet markedly reduces the intake of saturated and unsaturated fatty acids especially long chain polyunsaturated fatty acids (LC-PUFA).
Berthold Koletzko, Carmen Rohde, Claudia Matthies, Joachim Thiery, Linda Kortz, Mathias Bruegel, Michael Müller, Skadi Beblo, Ulrike Mütze, Uta Ceglarek, Wieland Kiess   +10 more
core   +3 more sources

From Multiple Congenital Anomalies to Pituitary Gland Malformation: Wide Spectrum of Clinical Features in a Family With FOXA2 Variant

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT FOXA2 (hepatocyte nuclear factor‐3β, HNF‐3β) encodes a transcriptional activator involved in early embryogenesis, particularly in the patterning and differentiation of midline structures such as the neural tube, foregut, and pituitary gland. Its role in human pathogenesis was first suspected when patients with deletion of chromosome 20p11.2 ...
Christopher Connolly, Hemant A. Parmar, Lauren Hipp, Tomoyasu Higashimoto   +3 more
wiley   +1 more source

New zebrafish models of neurodegeneration [PDF]

, 2015
In modern biomedicine, the increasing need to develop experimental models to further our understanding of disease conditions and delineate innovative treatments has found in the zebrafish (Danio rerio) an experimental model, and indeed a valuable asset ...
A Nasevicius, A Vaccaro, AE Schaffer, AJ Rennekamp, AM Stewart, B Schmid, Claire Russell, DI Shah, EM Caramillo, F Ivanes, F Mahmood, HQ Jiang, JB Phillips, JW Mink, K Wager, K Wager, KC Donnell, KL Cerveny, L Wang, M Bond, M Nguyen, Michelangelo Campanella, MK Lin, PR Kasher, Rebeca Martín-Jiménez, S Ajroud-Driss, TO Auer, VT Cunliffe, Y Namavar   +28 more
core   +2 more sources

Hepatic Glycogen Storage Diseases in Brazil: A Multicenter Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT To describe clinical and laboratory characteristics, emphasizing the evolution of patients with hepatic glycogen storage diseases (GSDs) followed in Brazilian reference centers. Multicenter, retrospective study involving 13 centers, using RedCap platform. 132 patients were included: 63 (47.8%) GSD type I (56 Ia, 7 Ib), 13 (9.8%) with type III (
Mariana Pena Costa, Alexandre Rodrigues Ferreira, Adriana Teixeira Rodrigues, Rodrigo Rezende Arantes, Thais Costa Nascentes Queiroz, Elisa de Carvalho, Gilda Porta, Irene Kazue Miura, Maria Tereza Galvão Guiotti, Rafaella Karen Sousa Monterlei, Adriana Maria Alves de Tommaso, Gabriel Hessel, Maria Ângela Bellomo‐Brandão, Roberta Vacari de Alcantara, Maria Julia Rodrigues Teixeira de Araujo, Daniela Góis Meneses, Regina Sawamura, Cibele Dantas Ferreira Marques, Lucas Rocha Alvarenga, Marise Helena Cardoso Tofoli, Ana Cristina Vieira de Melo, Jussara Melo de Cerqueira Maia, Leticia Helena Caldas Lopes, Eleonora Druve Tavares Fagundes   +23 more
wiley   +1 more source