Results 41 to 50 of about 38,143 (313)

Integrated Single‐Cell and Spatial Transcriptomics Reveal Cell‐Type‐Specific Immune Regulatory Networks in Maize Responding to Southern Corn Rust

open access: yesAdvanced Science, EarlyView.
By integrating single‐nuclei and spatial transcriptomics, this study presents a stereoscopic landscape of maize leaf to Puccinia polysora infection. Epidermal and mesophyll cells initiate primary defenses via RLPs/RLKs and jasmonic acid signaling. Cell‐cell communication analyses further reveal the underlying the dynamics of the underlying immune ...
Qiongqiong Wang   +16 more
wiley   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

open access: yesLiver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala   +6 more
wiley   +1 more source

Global serum glycoform profiling for the investigation of dystroglycanopathies & Congenital Disorders of Glycosylation

open access: yesMolecular Genetics and Metabolism Reports, 2016
The Congenital Disorders of Glycosylation (CDG) are an expanding group of genetic disorders which encompass a spectrum of glycosylation defects of protein and lipids, including N- & O-linked defects and among the latter are the muscular ...
Wendy E. Heywood   +11 more
doaj   +1 more source

Case-control study about the acceptance of Pegvaliase in Phenylketonuria

open access: yesMolecular Genetics and Metabolism Reports, 2020
Introduction: Pegvaliase is a novel enzyme substitution therapy approved by the European Drug Administration (EDA) in May 2019 for the treatment of Phenylketonuria (PKU) in adults and children ≥16 years of age.
Johannes Krämer
doaj   +1 more source

LABRAD : Vol 41, Issue 3 - December 2015 [PDF]

open access: yes, 2015
Overview on Approach to Inherited Bleeding Disorders Diagnostic Approach to Haemoglobinopathies Transient Abnormal Myelopoiesis Urinary Tract Infections (UTI) in Children Role of Histopathology in the Diagnosis of Paediatric Renal Tumours Role of ...
Aga Khan University Hospital, Karachi
core   +1 more source

Recon 2.2: from reconstruction to model of human metabolism. [PDF]

open access: yes, 2016
IntroductionThe human genome-scale metabolic reconstruction details all known metabolic reactions occurring in humans, and thereby holds substantial promise for studying complex diseases and phenotypes.
Ang, Kok Siong   +24 more
core   +5 more sources

Carnitine Inborn Errors of Metabolism [PDF]

open access: yesMolecules, 2019
Carnitine plays essential roles in intermediary metabolism. In non-vegetarians, most of carnitine sources (~75%) are obtained from diet whereas endogenous synthesis accounts for around 25%. Renal carnitine reabsorption along with dietary intake and endogenous production maintain carnitine homeostasis.
Mohammed Almannai   +2 more
openaire   +3 more sources

Diminished Signal‐to‐Noise Ratio Disrupts Somatosensory Population Encoding and Drives Tactile Hyposensitivity in the Fmr1−/y Autism Model

open access: yesAdvanced Science, EarlyView.
This study provides a translational approach for linking neural activity to tactile deficits in autism. By combining psychophysics with cortical recordings in a mouse model of autism, we show that low signal‐to‐noise ratio in somatosensory neurons weakens population encoding of fine touch, impairing detection, decoding, and leading to perceptual ...
Ourania Semelidou   +7 more
wiley   +1 more source

Sustaining benefits of nutritional therapy in young adults with phenylketonuria - A 2 year prospective study

open access: yesMolecular Genetics and Metabolism Reports, 2020
Introduction: Phenylketonuria (PKU) is an inborn error of metabolism, which is caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). Life-long Phe-free diet impairs quality of life, especially in adolescents and young adults which take ...
Johannes Krämer
doaj   +1 more source

Characterization and expression of domains of Alphaherpesvirus bovine 1/5 envelope glycoproteins B in Komagataella phaffi

open access: yesBMC Veterinary Research, 2023
Background Bovine herpes virus (BoHV 1 and BoHV-5) are the causative agents of infectious bovine rhinotracheitis (IBR). IBR is responsible for important economic losses in the cattle industry.
Juan Sebastián Quintero Barbosa   +5 more
doaj   +1 more source

Home - About - Disclaimer - Privacy