Results 41 to 50 of about 133,969 (268)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Causal effects of physical activity on the risk of overall ovarian cancer: A Mendelian randomization study

Digital Health, 2023
Objective Inconsistent results were reported on the association of physical activity with ovarian cancer. However, given the limitations of confounders and inverse causation, the validity of the association remained unclear. Therefore, we conducted a two-
Jing Wang, Huanling Zhao, Jiahao Zhu, Minmin Jiang   +3 more
doaj   +1 more source

Tropomyosin 1 Promotes Platelet Adhesion and Clot Contraction Separate from Its Roles in Developmental Hematopoiesis

Advanced Science, EarlyView.
ABSTRACT Genome‐wide association studies (GWAS) link the Tropomyosin 1 (Tpm1) locus to quantitative blood trait variation, but related mechanisms are unclear. Tpm1 encodes an actin‐binding protein that regulates actin filament diversity, cell adhesion, signaling, and actomyosin contractility.
Po‐Lun Kung, Victor Tsao, Alina D Peshkova, Oscar A. Marcos‐Contreras, Kim Ha, Brian M Dulmovits, Nkemdilim Okoli, Anvi Sinha, Gennadiy Fonar, Rong Qiu, Rolf D Bates, Janelle Yeboah, Carson Shalaby, Tyler Truex, Soomin Jeong, Edna C Hardeman, Peter W Gunning, Vladimir R Muzykantov, Jacob W Myerson, Christopher S Thom   +19 more
wiley   +1 more source

G3BP1 Succinylation at K413 is Critical for Cardiac Function by Modulating PI3K‐AKT‐mTOR Signal Axis

Advanced Science, EarlyView.
Schematic illustrating the impact of G3BP1 succinylation at K413 on cardiac function. In the healthy human heart, G3BP1 succinylation maintains homeostatic mTOR signaling. In patients with dilated cardiomyopathy (DCM) and heart failure (HF), G3BP1 de‐succinylation induces RagA expression and disrupts the binding of the TSC1/2 complex, leading to the ...
Yuan Zhang, Cancan Yao, Yan Chen, Ke Cai, Zhouping Lu, Boxuan Wu, Kun Yu, Yan Shi, Jianyuan Zhao, Xiangyu Zhou   +9 more
wiley   +1 more source

Androgen Receptor‐Induced Lactoferrin Accelerates Prostate Tumorigenesis Through Modulating Ferroptosis

Advanced Science, EarlyView.
This study demonstrates that transcription factor androgen receptor (AR) directly binds the LF promoter, driving lactoferrin overexpression to promote ferritin (FTH1/FTL) upregulation and inhibit p53‐ALOX12‐mediated ferroptosis in prostate cancer. Lactoferrin could be a new potential therapeutic target in prostate cancer.
Can Liu, Qiu Peng, Xiaoyue Zhang, Zhengshuo Li, Yangge Wu, Yuqing Wen, Run Zheng, Shuanglong Wu, Chenfei Zhou, Zhengyu Hu, Lanjun Shu, Xinyi Ma, Qiuyang Li, Ya Ma, Chunlin Ou, Ming Zhao, Songqing Fan, Lingyu Wei, Jian Ma   +18 more
wiley   +1 more source

Cis‐ and Trans‐Regulatory Factors Independently Shape Phenotypic Heterogeneity of Retinitis Pigmentosa

Advanced Science, EarlyView.
A zebrafish model carrying an identical human RHO S334X allele reveals two independent genetic layers shaping retinitis pigmentosa (RP) severity: a protective 3‐bp cis‐regulatory insertion that attenuates transgene expression, and a dominant trans‐acting modifier that restores a severe phenotype.
Cong Cui, Kotone Nakagawa, Takumi Tateno, Ayaka Dan, Dexin Meng, Yoshihiro Omori, Soma Tomihara, Suzuri Okamoto, Shigeru Sato, Motokazu Tsujikawa   +9 more
wiley   +1 more source

Relationship between NAFLD and coronary artery disease: A Mendelian randomization study

Hepatology, EarlyView., 2022
Abstract Background and Aims There is an ongoing debate on whether NAFLD is an active contributor or an innocent bystander in the pathogenesis of coronary artery disease (CAD). The aim of the present study was to assess the causal relationship between NAFLD and CAD.
Zhewen Ren, Pomme I. H. G. Simons, Anke Wesselius, Coen D. A. Stehouwer, Martijn C. G. J. Brouwers   +4 more
wiley   +1 more source

A cyclical switch of gametogenic pathways in hybrids depends on the ploidy level

Communications Biology
The cellular and molecular mechanisms governing sexual reproduction are conserved across eukaryotes. Nevertheless, hybridization can disrupt these mechanisms, leading to asexual reproduction, often accompanied by polyploidy. In this study, we investigate
Dmitrij Dedukh, Anatolie Marta, Ra-Yeon Myung, Myeong-Hun Ko, Da-Song Choi, Yong-Jin Won, Karel Janko   +6 more
doaj   +1 more source

Clarifying Mendelian vs non-Mendelian inheritance

GENETICS
Abstract Gregor Mendel developed the principles of segregation and independent assortment in the mid-1800s based on his detailed analysis of several traits in pea plants. Those principles, now called Mendel's laws, in fact, explain the behavior of genes and alleles during meiosis and are now understood to underlie “Mendelian inheritance”
Susan Strome, Needhi Bhalla, Rohinton Kamakaka, Upasna Sharma, William Sullivan   +4 more
openaire   +4 more sources

Materials‐Guided Gene‐Ionizable Lipid Nanoparticles to Reverse Iron‐Associated Immune Resistance in Renal Cancer

Advanced Science, EarlyView.
ABSTRACT Iron overload is a common metabolic disturbance in cancer and contributes to poor outcomes in renal cell carcinoma (RCC), yet its effects on the tumour immune microenvironment remain unclear. Here we identify a previously unrecognized immunosuppressive axis in which iron overload downregulates the palmitoyltransferase ZDHHC12 in CD8+ T cells ...
Xin Jin, Yulong Hong, Chengliang Yin, Wanyang Guo, Yaxuan Wang, Ruijiang Zeng, Ruilin Liu, Zexian Ding, Xinlin Liu, Shangqing Ren, Qiyang Liang, Yaohui Wang, Xu Zhang, João Conde, Yuan Li, Xin Ma, Liangyou Gu   +16 more
wiley   +1 more source