Results 121 to 130 of about 220,984 (248)

Inherited smallpox [PDF]

Archives of Disease in Childhood, 1934
J P, Marsden, C R, Greenfield
openaire   +2 more sources

Farnesyltransferase Deficiency in Cardiomyocytes Initiates Senescence and Contributes to Cardiac Fibrosis

Advanced Science, EarlyView.
Lipid overload suppresses SREBF2‐mediated FNTB expression, leading to defective Lamin A maturation and nuclear envelope instability. This nuclear catastrophe triggers a pro‐fibrotic senescence program in cardiomyocytes. Notably, restoring nuclear integrity via AAV9‐based gene therapy effectively attenuates cardiac remodeling, identifying the ...
Yuxiao Chen, Lian Lou, Xuan Zhang, Lin Yan, Qi Zhang, Wen Shi, Jie Ding, Xu Lin, Rong Jiang, Shuo Liu, Thida Sok, Pengli Wang, Yun Mou, Jie Han, Shenjiang Hu, Xiaogang Guo, Jian Yang   +16 more
wiley   +1 more source

The influence of genetic factors on education health and care plan obtainment for pupils with intellectual developmental disabilities. [PDF]

Sci Rep
Lee IO, Wolstencroft J, Housby H, van den Bree MBM, Chawner SJRA, Hall J, Owen MJ, IMAGINE ID Consortium, Skuse DH.   +8 more
europepmc   +1 more source

Inherited cardiomyopathies [PDF]

British Journal of Anaesthesia, 2012
openaire   +2 more sources

A Self‐Organized Liquid Reaction Container for Cellular Memory

Advanced Science, EarlyView.
How cells restore epigenetic information lost during replication is not known. This work proposes a mechanism based on the formation of biomolecular condensates. These condensates are induced by the chromosome itself and serve as reaction vessels for reconstructing missing epigenetic markers.
Sukanta Mukherjee, Enrico Skoruppa, Holger Merlitz, Jens‐Uwe Sommer, Helmut Schiessel   +4 more
wiley   +1 more source

Candidate Genes for Non-Syndromic Pediatric Cataracts. [PDF]

Clin Ophthalmol
Rossen JL, Drackley A, Goetsch Weisman A, Ing A, Bohnsack BL.   +4 more
europepmc   +1 more source

NuSAP Safeguards Centriole Integrity to Mediate CEP57‐CEP152 Torus Recruitment for Proper Engagement

Advanced Science, EarlyView.
This study reveals a novel role for the microtubule stabilizer NuSAP at centrioles. NuSAP depletion destabilizes the centriole's tubulin structure, causing premature disengagement, PCM defects, and mis‐localization of the CEP57‐CEP63‐CEP152 complex. By reinforcing centriole architecture, NuSAP enables early CEP57 loading and initiates a newly proposed ...
Shiyu Zhang, Zemin Jiang, Qiaoyun Yang, Hong Zheng, Minghao Wang, Chennianci Zhu, Lih‐Wen Deng, Karen Carmelina Crasta, Yih‐Cherng Liou   +8 more
wiley   +1 more source

Reassessing evidence for symmetric histone inheritance in <i>Drosophila</i> stem cells. [PDF]

Proc Natl Acad Sci U S A
Chen X.
europepmc   +1 more source

Activated Platelet–Released Heat Shock Protein 90α Triggers Autophagy‐Dependent Neutrophil Extracellular Trap Formation and Amplifies Sepsis

Advanced Science, EarlyView.
HSP90α is significantly upregulated in platelets from sepsis patients, with its origin from megakaryocyte‐derived trafficking. Furthermore, activated platelets secrete HSP90α into the extracellular space in both free and exosome‐associated forms. Finally, extracellular HSP90α directly engages TLR4 on neutrophils to induce autophagy, leading to NET ...
Chengbo Wang, Maodong Leng, Chenchen Sun, Jingyu Cao, Linfei Li, Yangyang Jia, Yongshuai Han, Yuchun Liu, Yaodong Zhang, Chenglong Zhang, Yingli Men, Ningyuan Liu, Yibing Cheng, Yixia Zhang, Ya Li, Zhenlong Li, Lidan Cui, Xiangzhan Zhu   +17 more
wiley   +1 more source

Identification of an additional deep intronic splice variant prompts critical evaluation of SPG7 inheritance. [PDF]

Neurogenetics
Gillesse EH, Wan M, Ashtiani S, Suchowersky O, Parboosingh JS, Bernier FP, Lamont RE, Innes AM, Au PYB, Care4Rare Canada Consortium.   +9 more
europepmc   +1 more source