, 2006 Los autores de este artículo revisan el screening neonatal, desde la descripción por Wilson y Jungner en 1968 de los criterios que hansido aplicados en la detección precoz de enfermedades enel recién nacido, hasta los avances actuales en la medicina genómica que han modificado sustancialmente estas bases. Se comentan los métodos diagnósticos prenatales
Urbón Artero, Alfonso +1 more
openaire +1 more source
Advanced Science, EarlyView.A super‐conductive ionic patch reprograms the post‐infarction microenvironment by enabling stable ionic migration and electrical signal transmission within damaged myocardium. The patch rapidly adheres to cardiac tissue, enhances conduction velocity, suppresses excitation‐contraction decoupling, and promotes structural and functional cardiac repair in ...
Changyong Wang +8 more
wiley +1 more source
Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development
Advanced Science, EarlyView.Connexin26 can not only form intercellular channels that mediate rapid communication on the cell membrane, but also enter the nucleus as a transcription factor to directly regulate the transcription of nuclear genes. In the developing cochlea, Cx26 can control the maturation of the molecular scissor ADAM10 by regulating the transcription of TspanC8 ...
Xiaozhou Liu +8 more
wiley +1 more source
Assessment of circulating apoE4 levels from dried blood spot samples in a large survey setting
Alzheimer’s & Dementia: Diagnosis, Assessment & Disease MonitoringINTRODUCTION The apolipoprotein E (APOE) ε4 allele is associated with high risk for Alzheimer's disease. It is unclear whether individual levels of the circulating apoE4 protein in ε4 carriers confer additional risk.
Nis Borbye‐Lorenzen +8 more
doaj +1 more source
Maternal screening to prevent neonatal Group B streptococcal disease [PDF]
, 2002 openalex +1 more source
Effectiveness of a Screening Toolkit on Empowering Mothers about Neonatal Screening Tests for Metabolic Disorders and Hearing Defects [PDF]
, 2022 Afaf Abel Malek Hussein +4 more
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HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration
Advanced Science, EarlyView.This study constructed the first developmental atlas of embryonic skeletal muscle fibro/adipogenic progenitors (FAPs) and identified an HMGB2+ FAPs subpopulation that regulates FAP pool size and muscle homeostasis. HMGB2 directly targets the RAD21 promoter, and its knockout significantly reduces FAP numbers, thereby lowering the potential for ...
Xian Tong +14 more
wiley +1 more source
Prevalência de doenças congênitas identificadas no teste de triagem neonatal do Município de Chapecó, Santa Catarina, Brasil: 2014-2018/ Prevalence of congenital diseases identified in newborn screening test in the City of Chapecó, Santa Catatina, Brazil: 2014-2018 [PDF]
, 2021 Carlos Alberto do Amaral Medeiros +2 more
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