Results 71 to 80 of about 1,922,511 (410)

Liver‐specific lncRNAs associated with liver cancers

FEBS Open Bio, EarlyView.
Long non‐coding RNAs (lncRNAs) are regulatory molecules with various functions. They are more tissue‐specific than proteins and can be used as potential biomarkers, particularly in cancer diagnostics and prognosis. In this review, we have systematically compiled all lncRNAs with exclusive expression in the human liver, verified their liver specificity ...
Olga Y. Burenina, Roman K. Makarchenko, Maria P. Rubtsova, Olga A. Dontsova   +3 more
wiley   +1 more source

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis

Diabetes Care, 2019
OBJECTIVE Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, at HLA risk loci.
S. Sharp, S. Rich, A. Wood, Samuel E. Jones, R. Beaumont, Jamie W. Harrison, Darius A. Schneider, J. Locke, J. Tyrrell, M. Weedon, W. Hagopian, R. Oram   +11 more
semanticscholar   +1 more source

Universal newborn hearing screening in the Lazio region, Italy [PDF]

, 2018
Background: The introduction of Universal Newborn Hearing Screening (UNHS) programs has drastically contributed to the early diagnosis of hearing loss in children, allowing prompt intervention with significant results on speech and language development ...
Cammeresi, Maria Gloria, Conti, Guido, Frezza, Simonetta, Giannantonio, Sara, Greco, Antonio, Marsella, Pasquale, Orlando, Maria Patrizia, Picciotti, Pasqualina Maria, Ralli, Massimo, Russo, Francesca Yoshie, Scorpecci, Alessandro, Turchetta, Rosaria   +11 more
core   +1 more source

HPDL Variant Type Correlates With Clinical Disease Onset and Severity

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee, Olivia Kim‐Mcmanus, Jennifer H. Yang, Richard Haas, Maha S. Zaki, Ghada M. H. Abdel‐Salam, Yuji Nakamura, Mohamed S. Abdel‐Hamind, Darius Ebrahimi‐Fakhari, Julian E. Alecu, Nicola Brunetti‐Pierri, Varunvenkat M. Srinivasan, Vykuntaraju K. Gowda, Stephanie Gross, Yasemin Alanay, Paria Najarzadeh Totbati, Manya Yadavilli, Liana Friedman, Naomi Meave Ojeda, Joseph G. Gleeson   +19 more
wiley   +1 more source

Building a Newborn Screening Information Management System from Theory to Practice

International Journal of Neonatal Screening, 2019
Information Management Systems are the central process management and communication hub for many newborn screening programs. In late 2014, Newborn Screening Ontario (NSO) undertook an end to end assessment of its information management needs which ...
Michael Pluscauskas, Matthew Henderson, Jennifer Milburn, Pranesh Chakraborty   +3 more
doaj   +1 more source

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

Adrenoleukodystrophy Newborn Screening in the Netherlands (SCAN Study): The X-Factor

Frontiers in Cell and Developmental Biology, 2020
X-linked adrenoleukodystrophy (ALD) is a devastating metabolic disorder affecting the adrenal glands, brain and spinal cord. Males with ALD are at high risk for developing adrenal insufficiency or progressive cerebral white matter lesions (cerebral ALD ...
Rinse W. Barendsen, Inge M. E. Dijkstra, W. Visser, Marielle Alders, J. Bliek, A. Boelen, M. Bouva, Saskia N. van der Crabben, Ellen Elsinghorst, A. V. Gorp, A. Heijboer, A. Heijboer, Mandy Jansen, Y. Jaspers, H. Lenthe, I. Metgod, I. Metgod, C. Mooij, Elise H. C. van der Sluijs, A. Trotsenburg, R. Verschoof-Puite, F. Vaz, H. Waterham, F. Wijburg, M. Engelen, E. Dekkers, S. Kemp   +26 more
semanticscholar   +1 more source

Aetiologies after newborn hearing screening [PDF]

, 2014
C
Acke, Frederic, De Leenheer, Els, Dhooge, Ingeborg, Van Hoecke, Helen   +3 more
core   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

OPPORTUNITY ANALYSIS OF NEWBORN SCREENING PROGRAMS [PDF]

There exist congenital diseases that reduce newborns' potential opportunities. This reduction is sometimes alleviated if the congenital disease is early detected thanks to a newborn screening program.
Carmen Herrero Blanco, Juan D. Moreno Ternero   +1 more
core   +3 more sources