Results 181 to 190 of about 437,688 (307)

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Oral glucose solution for the treatment of persistent asymptomatic neonatal hypoglycemia: a randomized, double-blind, placebo-controlled trial. [PDF]

Eur J Pediatr
Kitsommart R, Petchkum T, Yangthara B, Siripattanapipong P, Paes B.   +4 more
europepmc   +1 more source

A rhesus macaque model of α‐dystroglycanopathy caused by a POMT1 splice altering variant

Animal Models and Experimental Medicine, EarlyView.
Rhesus macaques homozygous for a naturally occurring spice altering variant in the POMT1 gene develop lissencephaly, microphthalmia, and muscular contracture. The presentation models severe presentation of the human Walker‐Warburg syndrome. Abstract Background Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a ...
Anya Nordlund, Brian LaMendola, Nathan P. Crilly, Seth Kittle, Betsy M. Ferguson, Anne D. Lewis, Jeff Wall, Samuel M. Peterson   +7 more
wiley   +1 more source

Early-life serum protein profiles associated with bronchopulmonary dysplasia in extremely preterm infants. [PDF]

Respir Res
Klevebro S, Panwar MB, Wackernagel D, Hansen Pupp I, Björkander S, Danielsson H, Uhlén M, Vallin L, Sävman K, Pivodic A, Hellström A, Nilsson AK.   +11 more
europepmc   +1 more source

Aortic valve disease: Novel animal models for advancing our understanding of the underlying mechanisms

Animal Models and Experimental Medicine, EarlyView.
Due to the complex pathophysiology of aortic valve disease (AVD) and the resulting lack of effective pharmacotherapy, existing animal models are valuable research tools, but each has its own strengths and limitations. This review systematically surveys the major AVD models, compares their induction methods, pathological features, advantages and ...
Liya Hou, Xue Liu, Wangxing Hu, Xianbao Liu, Wei Zhu   +4 more
wiley   +1 more source

Prenatal findings and postnatal outcomes in cases of closed spinal dysraphism: 10-year two-center cohort study. [PDF]

Ultrasound Obstet Gynecol
Athiel Y, Van den Eede E, de Saint Denis T, Blondiaux E, Dhombres F, Maurice P, Dugas A, Simonnet H, Guilbaud L, Garel C, van der Merwe H, Aertsen M, Devloo P, Devlieger R, Deprest J, Jouannic JM.   +15 more
europepmc   +1 more source

Baihe Zhimu Decoction ameliorates anxious depression via PI3K/AKT/mTOR pathway‐mediated neuroprotection and inhibition of hippocampal neuronal apoptosis

Animal Models and Experimental Medicine, EarlyView.
Baihe Zhimu Decoction alleviates anxious depression‐like behaviors and protects hippocampal neurons. Chemical profiling and network pharmacology reveal multiple active components acting via the PI3K/AKT/mTOR pathway, enhancing neuronal survival and function, as confirmed by multi‐level in vitro and in vivo validation.
Yuanshan Han, Kexin He, Haolan Yang, Jiacheng Dai, Ronglin Chen, Yang Liu, Yuhong Wang, Lin Tang, Hongqing Zhao   +8 more
wiley   +1 more source

Clinical Determinants and Mortality Predictors of Acute Kidney Injury in Neonates: A Five-Year Retrospective Cohort Study. [PDF]

Sisli Etfal Hastan Tip Bul
Avsar H, Bulbul A, Kiray Bas E, Divarci A, Tellioglu AY.   +4 more
europepmc   +1 more source

Histological analysis of the spatio‐temporal development of porcine knee cartilage in embryonic and early postnatal stages

Animal Models and Experimental Medicine, EarlyView.
This study dynamically charts the developmental process of the knee joint cartilage from the embryonic stage through to postnatal life, revealing key developmental events including the origin of knee joint development, chondrification, primary ossification, secondary ossification, formation of the cartilage cancal, and formation of the growth plate. It
Yan Nie, Kai Wang, Xuewen Wang, Jinzhu Jing, Zhen Liang, Guoqiang Yan, Wen Feng Guo, Meng Zhang, Wei Zhang, Lei Xiang   +9 more
wiley   +1 more source

Most Early-Born Subplate Neurons Persist as Layer 6b Neurons in the Adult Mouse Neocortex. [PDF]

J Comp Neurol
Sugita Y, Moriya-Ito K, Hanashima C, Ohtaka-Maruyama C.   +3 more
europepmc   +1 more source