Results 151 to 160 of about 418,363 (219)

A Novel Premature Termination Codon Mutation in TRAPPC2 Is Associated with X-Linked Spondyloepiphyseal Dysplasia Tarda. [PDF]

Mol Syndromol
Yasar D, Güleray Lafcı N, Karacan Küçükali G, Araslı Yılmaz A, Özkaya Dönmez B, Yazar BT, Uçan B, Okur İ, Sarıkaya Özdemir B, Kurnaz E, Keskin M, Savaş Erdeve Ş.   +11 more
europepmc   +1 more source

Premature termination codon readthrough upregulates progranulin expression and improves lysosomal function in preclinical models of GRN deficiency. [PDF]

Mol Neurodegener, 2020
Frew J, Baradaran-Heravi A, Balgi AD, Wu X, Yan TD, Arns S, Shidmoossavee FS, Tan J, Jaquith JB, Jansen-West KR, Lynn FC, Gao FB, Petrucelli L, Feldman HH, Mackenzie IR, Roberge M, Nygaard HB.   +16 more
europepmc   +1 more source

TRIM32 controls timely cell cycle exit in muscular differentiation through downregulation of c‐Myc mRNA

The FEBS Journal, EarlyView.
Trim32 regulates the transition from proliferation to differentiation in C2C12 cells after myogenic induction. We found that, at the onset of differentiation, Trim32 destabilizes c‐Myc mRNA, promotes cell cycle exit, and enables normal myotube formation.
Lu Xiong, Elisa Lazzari, Sabrina Pacor, Simeone Dal Monego, Erica Piovesan, Danilo Licastro, Germana Meroni   +6 more
wiley   +1 more source

A premature termination codon mutation in the onion <i>AcCER2</i> gene is associated with both glossy leaves and thrip resistance. [PDF]

Hortic Res
Lei P, Pan M, Kang S, Zeng P, Ma Y, Peng Y, Ma X, Chen W, He L, Yang H, Li W, Zhang S, Hui L, Cai J.   +13 more
europepmc   +1 more source

The trimeric Shu complex in C. elegans is an ATPase that remodels RAD51 filaments in the homologous recombination‐associated DNA damage response

The FEBS Journal, EarlyView.
The C. elegans Shu complex (RFS‐1/RIP‐1/SWS‐1) is a DNA‐dependent ATPase that regulates RAD‐51 filaments during homologous recombination. The trimer preferentially binds 5′‐exposed DNA, remodels RAD‐51 filaments via ATP hydrolysis, and stabilizes filaments through ATP binding.
Sam Siu Hang Chu, Guangxin Xing, Kichang Paik, Anton Gartner, Hong Ling   +4 more
wiley   +1 more source

CHAMP1 premature termination codon mutations found in individuals with intellectual disability cause a homologous recombination defect through haploinsufficiency. [PDF]

Sci Rep
Yoshizaki Y, Ouchi Y, Kurniawan D, Yumoto E, Yoneyama Y, Rizqullah FR, Sato H, Sarholz MH, Natsume T, Kanemaki MT, Ikeda M, Ui A, Iemura K, Tanaka K.   +13 more
europepmc   +1 more source

Newly identified human aminoacyl‐tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss‐of‐function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model

The FEBS Journal, EarlyView.
Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen, Shenela Lakhani, Joshua Appelbaum, DéJenaé See, Pryce Patterson, Collin M. MacLeod, Alexandra George, Reza Maroofian, Margaret E. Ross, Christopher Francklyn, Alicia M. Ebert   +10 more
wiley   +1 more source

Gene Editing for Haemophilia—The Next Frontier

Haemophilia, EarlyView.
ABSTRACT The recently approved haemophilia A and B gene therapies via adeno‐associated virus (AAV) showed a promising therapeutic response after a single injection, but there are still limitations, including the potential loss of transgene expression and restriction in adults.
Mirko Pinotti, Gregory A. Newby, Sundar Selvaraj, Steven W. Pipe   +3 more
wiley   +1 more source

MyD88‐Family Adaptors: Compartmentalised Signalling and Non‐Immune Functions

Immunology, EarlyView.
MyD88‐family adaptors coordinate receptor‐ and compartment‐specific innate immune signalling across plasma membrane and endosomal pathways. At the plasma membrane, TIRAP/MAL supports MyD88‐dependent signalling downstream of TLR2 and TLR4, whereas endosomal TLR7, TLR8 and TLR9 recruit MyD88 directly.
Seshu Vardhan Pothabathula, Saurabh Mishra, Pugazhendhi Kannan, Annette Bellar, Amy Attaway, Nicole Welch, Srinivasan Dasarathy   +6 more
wiley   +1 more source

Genomic variation drives plant flavor diversification

Journal of Integrative Plant Biology, EarlyView.
This review explains how genomic variation shapes plant flavor by altering the biosynthetic and regulatory pathways of key attributes like sweetness, acidity, bitterness, piquancy, astringency, and aroma. It also discusses how multi‐omics, AI‐assisted breeding, and gene editing can translate this knowledge into plants with improved flavor, nutrition ...
Huimin Hu, Yanwei Hao, Yiwei Zhou, Xia Zhang, Rui Xia, Pan Liao   +5 more
wiley   +1 more source