Results 161 to 170 of about 148,879 (306)

A Second Pathogenic Protein, PolyGN2C‐iso2, Reveals a Dual‐Protein Pathology in Neuronal Intranuclear Inclusion Disease

Advanced Science, EarlyView.
This study reveals that NOTCH2NLC transcript variant 2 generates PolyGN2C‐iso2, an aggregating protein present within intranuclear inclusions of NIID patient tissues. A novel mouse model expressing PolyGN2C‐iso2 recapitulates white matter abnormalities and cognitive deficits, mechanistically linked to mitochondrial dysfunction. These findings support a
Kang Zhang, Wenhao Ma, Yi Zhou, Zhijie Wu, Pan Gao, Hongze Niu, Hongfei Tai, Tianyi Zhao, Zheyue Dong, Li Li, Yan Zhang, An Wang, Si Shen, Yueyang Li, Sifei Yu, Yan Peng, Wang Sheng, Xiaoyan Dong, Hua Pan, Kaibin Shi, Magdalena J. Koziol, Xiaobing Wu, Zaiqiang Zhang   +22 more
wiley   +1 more source

Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil. [PDF]

Genet Mol Biol
Oliveira Netto AB, Hentschke-Lopes M, Pasetto FB, Anjos TARD, Andrade GS, Sousa MIA, Moraes IDS, Trapp FB, Brusius-Facchin AC, Saute JAM, Becker MM, Coutinho VLS, Vilella-Arias S, Ponci V, França Junior MC, Galera MF, Amorim T, Giugliani R.   +17 more
europepmc   +1 more source

Hypothalamic Control of Liver Health and Disease: From Circuits to Pathophysiology and Therapies

Advanced Science, EarlyView.
This review delineates the hypothalamic circuits that control liver homeostasis via autonomic and neuroendocrine pathways. Dysregulation of this hypothalamus–liver axis drives disease progression across a spectrum including steatotic liver disease, liver inflammation and injury, fibrosis, cirrhosis, and hepatocellular carcinoma.
Qin Tang, Jiahui Li, Haiying Song, Ailin Zhang, Haifeng Zeng, Yining Xu, Li Mo, Jinhan He   +7 more
wiley   +1 more source

Human Foetal Neuroblasts Exhibit BK Channel‐Dependent Membrane Voltage Oscillations upon Depolarization

Advanced Science, EarlyView.
Primary cultures of neuroblasts isolated from the nucleus basalis of Meynert of 12‐weeks‐old human foetuses were prepared. Whole‐cell patch‐clamp recordings were performed by injecting a depolarizing stimulus current (+500 pA; 500 ms), and the membrane voltage recorded; this stimulus current evoked periodic‐like oscillations in membrane voltage ...
Elisabetta Coppi, Federica Cherchi, Martina Venturini, Federico Tommasi, Sandro Gonzi, Chiara Capacci, Giulia Guarnieri, Pasquale Gallina, Annamaria Morelli, Anna Maria Pugliese   +9 more
wiley   +1 more source

Soft, Multi‐Wavelength Photoplethysmography Enables Reliable Neonatal Blood Pressure Monitoring Via Error Stratification

Advanced Science, EarlyView.
A soft hybrid multi‐wavelength PPG wearable acquires neonatal signals. Synchronized PPG and invasive ABP data are segmented into fixed windows. A 1D‐EfficientNet model predicts segment‐level SBP and DBP. Model performance is examined with retrospective subgroup analysis across acquisition conditions.
Wenqi Shi, Lanlan Mi, Jiarong Chen, Biao Liu, Min Wang, Zisheng Dai, Bin Liu, Ruize Gao, Yunfeng Lin, Weiwei Guo, Guoxing Wang, Wenyi Luo, Cheng Chen   +12 more
wiley   +1 more source

Neonatal screening for Duchenne muscular dystrophy in eastern China: a closed prospective study. [PDF]

Transl Pediatr
Qian G, Yang R, Huang X, Wu D, Fang K, Zhao Z.   +5 more
europepmc   +1 more source

Neonatal screening. [PDF]

Journal of Clinical Pathology, 1993
openaire   +2 more sources

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Psychosocial issues of neonatal screening in the context of its major expansion: a scoping review. [PDF]

Front Psychol
Sébert AL, Gargiulo M, De Lonlay P, Arnoux JB, Vaiman D, Bensimon C, Araneda M.   +6 more
europepmc   +1 more source

Lymphatic Abnormalities in Noonan Syndrome Extend Beyond Clinically Apparent Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Lymphatic disease represents a well‐described manifestation of Noonan syndrome (NS), yet the full phenotypic spectrum remains incompletely characterized, especially in asymptomatic individuals. We conducted a cross‐sectional study including 10 individuals with NS (four with peripheral lymphedema and six without) and 10 age‐ and sex‐matched ...
Inger Norlyk Sheyanth, Benjamin Kelly, Sheyanth Mohanakumar, Steffen Ringgaard, Yoav Dori, Irene Kibæk Nielsen, Uffe Birk Jensen, Vibeke Elisabeth Hjortdal   +7 more
wiley   +1 more source