Authors’ reply: Comment on: Developmental dysplasia of the hip: why are we still operating on them? A plea for institutional newborn clinical screening [PDF]
Wen‐Chung Lee +2 more
openalex +1 more source
Connexin 26 Functions as a Direct Transcriptional Regulator During the Cochlea Development
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
Editorial: Special Issue "Genetic Newborn Screening". [PDF]
Nishio H, Awano H.
europepmc +1 more source
Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis [PDF]
Nikolas Boy +5 more
openalex +1 more source
HMGB2–RAD21 Axis Promotes Fibro/Adipogenic Progenitor Proliferation and Regulates Fat Infiltration
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
Parent’s Satisfaction of Universal Newborn Hearing Screening Program in Iran
Arash Bayat +6 more
openalex +2 more sources
Principles for Rigorous Design and Application of Synthetic Microbial Communities
SynComs are artificially designed to enable inter‐species metabolic interactions, metabolic division of labor, and ecological interactions that can elicit phenotypes like colonization stability and environmental adaptation. This systematic review explores the processes used to construct SynComs, the assessment of the mechanisms of metabolic interaction
Yuxiao Zhang +21 more
wiley +1 more source
Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review. [PDF]
Laugwitz L +5 more
europepmc +1 more source
CMAP changes upon symptom onset and during treatment in spinal muscular atrophy patients: lessons learned from newborn screening [PDF]
Wen‐Chin Weng +7 more
openalex +1 more source
Obesity involves chronic inflammation and mitochondrial dysfunction. This study identifies cytochrome P450 2E1 (CYP2E1) as a novel inflammatory target in adipose tissue. Its activity increases in obese mice and correlates with inflammation and mitochondrial impairment.
Jinhuan Qiu +10 more
wiley +1 more source

