Results 91 to 100 of about 156,606 (263)

Brown Adipocyte Sheets Alleviate Myocardial Ischemia–Reperfusion Injury Through NRG4–ErbB4–Dependent Ferroptosis Inhibition

Advanced Science, EarlyView.
Brown adipocyte sheets are engineered to protect the heart against myocardial ischemia–reperfusion injury by restraining ferroptosis. Upon transplantation onto the cardiac surface, they improve cardiac function, limit infarction and fibrosis, and enhance angiogenesis.
Lifu Sun, Yuting Liu, Jingbo Zhang, Takuji Kawamura, Junjun Li, Li Liu, Shigeru Miyagawa   +6 more
wiley   +1 more source

The KIF6‐RBP Complex Orchestrates mRNA Transport Required for Sperm Flagellar Assembly

Advanced Science, EarlyView.
Two homozygous deleterious KIF6 variants are identified in unrelated men with impaired sperm motility. Mouse models and multi‐omics analyses reveal that KIF6 cooperates with the RNA‐binding proteins FMRP and FXR1 to deliver mRNAs essential for sperm flagellar assembly, linking disrupted mRNA transport to reduced abundance of key structural and ...
Chunbo Xie, Sibing Yi, Xinle Lin, Shen Zhang, Weili Wang, Shimin Yuan, Lanlan Meng, Yong Li, Chen Tan, Chunjia Wei, Yanyan Yu, Yaoqiong Liang, Huan Zhang, Liang Hu, Guangxiu Lu, Wenbin He, Qianjun Zhang, Juan Du, Ge Lin, Chaofeng Tu, Yue‐Qiu Tan   +20 more
wiley   +1 more source

ZER1 Restrains Pressure Overload‐Induced Cardiac Remodeling by Targeting DVL2 for Gly/N‐Degron‐Dependent Degradation

Advanced Science, EarlyView.
Pressure overload suppresses cardiomyocyte ZER1, weakening CRL2Zer1‐mediated DVL2 degradation and allowing DVL2 accumulation. Elevated DVL2 activates CaMKII‐HDAC4‐MEF2C signaling, drives fetal gene reactivation, and promotes pathological remodeling.
Mingchao Jiang, Zhehao Lin, Lu Chen, Ying Ni, Jun Zhou, Wenjuan Zhang, Huilin Wang, Peifeng Ying, Xiu Lu, Kai Wang, Qingran Kong, Naxin Xu, Dingsheng Zhao, Jianwei Li, Guohui Zhong, Xingchen Meng, Sarkawt Hamad, Junmeng Zheng, Yuan Fu, Rongjiang Qin, Xuran Chu, Shangxuan Li, Youyou Li, Yili Wu, Yi Wang, Weihong Song, Yingxian Li, Shukuan Ling   +27 more
wiley   +1 more source

Chronic Disease Monitoring Using Advanced Compliant Materials for Bioelectronics

Advanced Electronic Materials, EarlyView.
Compliant bioelectronic systems enable continuous monitoring of chronic disease through soft, stretchable materials and tissue‐conformal designs that support stable electrophysiological, mechanical, and biochemical sensing. Integration of diverse sensing modalities with thoughtful material selection, device architectures, and advanced fabrication ...
Han Kim, Mabel Bartlett, Liyang Wang, Karl Bates, Mengdi He, Myungbo Kim, Carmel Majidi, Tzahi Cohen‐Karni   +7 more
wiley   +1 more source

Right ventricular dysfunction in COVID-19

Journal of Anaesthesiology Clinical Pharmacology, 2022
Bhattacharyya, Amrita, Bhattacharjee, Anirban, Pande, Aparna, Baidya, Dalim Kumar   +3 more
openaire   +2 more sources

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Targeted Anti‐IL‐1 Immunomodulatory Therapy in Pediatric Onset PPP1R13L‐Related Arrhythmogenic Cardiomyopathy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal recessive loss‐of‐function variants in PPP1R13L cause an ultra‐rare cardiocutaneous syndrome characterized by rapidly progressive arrhythmogenic cardiomyopathy (ACM). PPP1R13L encodes iASPP, which has two potentially overlapping mechanisms driving ACM as both a regulator of NFκB‐mediated inflammation and a binding partner within the ...
Aaron Renberg, Savannah Coppersmith, Owen Merritt, Amer Heider, Adam Helms, Thomas Michniacki, Jack Luxford, Sarah Josephi‐Taylor, Philip Roberts, Joshua Meisner   +9 more
wiley   +1 more source

Defining Features of Gabriele‐de Vries Syndrome in Adults: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gabriele‐de Vries syndrome (GADEVS) is a neurodevelopmental disorder caused by heterozygous pathogenic variants in the YY1 gene. Like most rare genetic syndromes, the adult manifestations of GADEVS remain poorly defined. Here, we describe the oldest patient reported to date with GADEVS—a 63‐year‐old woman with a c.1177_1179del YY1 variant ...
Ethan W. Hollingsworth, Changrui Xiao
wiley   +1 more source

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland, Amber Nakar Weinstein, Eric C. Kao, Xiaonan Zhao, Monika Weisz‐Hubshman   +4 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source