Results 241 to 250 of about 1,348,248 (398)
Pilot study of population-based newborn screening for spinal muscular atrophy in New York state
Genetics in Medicine, 2017 J. Kraszewski +14 more
semanticscholar +1 more source
Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models
Advanced Science, EarlyView.Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka +9 more
wiley +1 more source
Early skin-to-skin contact for mothers and their healthy newborn infants.
Cochrane Database of Systematic Reviews, 2013 E. Moore +3 more
semanticscholar +1 more source
Advanced Science, EarlyView.This study presents a wireless, non‐invasive strategy for neural repair by developing a biodegradable piezoelectric dural patch that, under transcranial ultrasound, generates localized electrical fields to drive endogenous neural stem cells toward neuronal differentiation and functional integration.
Pengbo Zhou +7 more
wiley +1 more source
The History of and Advances in Newborn Screening: Where Do We Stand? [PDF]
Genes (Basel)Anderson S, Velinov M.
europepmc +1 more source
Trained Memory of Uterine Macrophages Improves Subsequent Pregnancy Outcomes
Advanced Science, EarlyView.This study identifies that pregnancy imprints a durable, pregnancy‐specific form of trained immune memory in uterine macrophages, marked by the emergence of LILRB3+/PIR‐B+ cells that expand across gestations, acquire a tolerogenic and metabolically rewired phenotype, and actively protect against inflammatory pregnancy loss in mice.
Jing Wang +8 more
wiley +1 more source
Advanced Science, EarlyView.Dysregulated TCA cycle contributes to Alzheimer's disease (AD) pathogenesis. Here, we show that microglial isocitrate dehydrogenase 1 (IDH1) is a critical driver. Elevated IDH1 disrupts citrate metabolism and mitochondrial function, exacerbating AD pathology.
Qianqian Li +13 more
wiley +1 more source
A maximal-coverage approach to prioritizing newborn sickle cell screening sites in Uganda using a sickle cell-malaria co-risk surface. [PDF]
Malar JPaasi G +8 more
europepmc +1 more source
Advanced Science, EarlyView.This study identifies a FOSL2‐driven positive feedback loop that amplifies FSH/FSHR signaling. During FSH‐dependent follicle maturation, FSH induces Fosl2 expression via the cAMP‐PKA‐CREB cascade. FOSL2 in turn binds the promoters of Fshr and estrogen‐biosynthesis genes to enhance their transcription, thereby increasing Fshr mRNA level and amplifying ...
Hongru Shi +13 more
wiley +1 more source