Results 51 to 60 of about 220,107 (299)

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

Linking neurogenesis, oligodendrogenesis, and myelination defects to neurodevelopmental disruption in primary mitochondrial disorders

FEBS Letters, EarlyView.
Mitochondrial remodeling shapes neural and glial lineage progression by matching metabolic supply with demand. Elevated OXPHOS supports differentiation and myelin formation, while myelin compaction lowers mitochondrial dependence, revealing mitochondria as key drivers of developmental energy adaptation.
Sahitya Ranjan Biswas, Porter L. Tomsick, Alicia M. Pickrell, Paul D. Morton   +3 more
wiley   +1 more source

Mitochondrial Acetoacetyl-CoA Thiolase Deficiency: Three New Cases Detected by Newborn Screening Confirming the Significance of C4OH Elevation

International Journal of Neonatal Screening
Acetoacetyl-CoA thiolase deficiency, also known as Beta-ketothiolase deficiency (BKTD), is an autosomal recessive organic aciduria included in the Italian newborn screening (NBS) panel.
Alessandra Vasco, Clarissa Berardo, Simona Lucchi, Laura Cappelletti, Giulio Tamburello, Salvatore Fazzone, Alessia Mauri, Francesca Fiumani, Diana Postorivo, Luisella Alberti, Michela Perrone Donnorso, Serena Gasperini, Francesca Furlan, Laura Fiori, Stephana Carelli, Laura Assunta Saielli, Cristina Montrasio, Cristina Cereda   +17 more
doaj   +1 more source

Newborn Screen for X-Linked Adrenoleukodystrophy Using Flow Injection Tandem Mass Spectrometry in Negative Ion Mode

International Journal of Neonatal Screening, 2022
X-linked adrenoleukodystrophy (X-ALD) is a genetic disorder caused by pathogenic variants in the ATP-binding cassette subfamily D member 1 gene (ABCD1) that encodes the adrenoleukodystrophy protein (ALDP). Defects in ALDP result in elevated cerotic acid,
Tarek A. Teber, Brian J. Conti, Christopher A. Haynes, Amy Hietala, Mei W. Baker   +4 more
doaj   +1 more source

The impact of universal newborn hearing screening on long-term literacy outcomes: a prospective cohort study [PDF]

, 2016
Objective: To determine whether the benefits of universal newborn hearing screening (UNHS) seen at age 8?years persist through the second decade.Design: Prospective cohort study of a population sample of children with permanent childhood hearing ...
Blythe, Hazel I., Kennedy, Colin R., Kreppner, Jana, Mahon, Merle, Peacock, Janet L., Pimperton, Hannah, Stevenson, Jim, Terlektsi, Emmanouela, Worsfold, Sarah, Yuen, Ho Ming   +9 more
core   +1 more source

Deciphering transcriptional plasticity in pancreatic ductal adenocarcinoma reveals alterations in sensory neuron innervation

Molecular Oncology, EarlyView.
Pancreatic sensory neurons innervating healthy and PDAC tissue were retrogradely labeled and profiled by single‐cell RNA sequencing. Tumor‐associated innervation showed a dominant neurofilament‐positive subtype, altered mitochondrial gene signatures, and reduced non‐peptidergic neurons.
Elena Genova, Michele Montrone, Uday Rangaswamy, Francesco Diversi, Irene Schiavo, Denise Ferrarini, Roberta Di Florio, Irene Longo, Michele Coscia, Nicola Zamboni, Giorgia Demontis, Lisa Veghini, Vincenzo Corbo, Remo Sanges, Paul Heppenstall   +14 more
wiley   +1 more source

Commercially Bottled Purified Water as an Alternative Instrument Feed Water in Automated Time-Resolved Fluorescent Immunoassay for TSH, 17-OHP and IRT in Neonatal Screening

Philippine Journal of Pathology, 2018
Objective. The study was undertaken to determine if commercially bottled purified water can be used as substitute instrument feed water for three (3) newborn screening immunoassays. Methdology.
Emilio Villanueva III, Roel Martin Bumalay, John Michael Rivera   +2 more
doaj  

It All Depends What You Count—The Importance of Definitions in Evaluation of CF Screening Performance

International Journal of Neonatal Screening, 2020
Screening metrics are essential to both quality assessment and improvement, but are highly dependent on the way positive tests and cases are counted.
Natasha Heather, Dianne Webster
doaj   +1 more source

MiR-652-5p elevated glycolysis level by targeting TIGAR in T-cell acute lymphoblastic leukemia

Cell Death and Disease, 2022
The effect of glycolysis remains largely elusive in acute T lymphoblastic leukemia (T-ALL). Increasing evidence has indicated that the dysregulation of miRNAs is involved in glycolysis, by targeting the genes coding glycolysis rate-limiting enzymes.
Shan Liu, Haobiao Wang, Wei Guo, Xiaoyan Zhou, Yi Shu, Haiyan Liu, Li Yang, Shi Tang, Hongyu Su, Ziyang Liu, Lamei Zeng, Lin Zou   +11 more
doaj   +1 more source

Risk factors for sensorineural hearing loss among high-risk infants in Golestan province, Iran in 2010 - 2011 [PDF]

, 2015
Background: Hearing impairment, as one of the most common birth defects, is a hidden disability with negative impacts on speech and cognitive development. Objectives: The aim of this study was to assess the prevalence of sensorineural hearing loss (SNHL)
Alaee, E., Fouladinejad, M., Sirati, M., Taziki, M.H.   +3 more
core   +2 more sources