Results 241 to 250 of about 156,310 (280)

Beyond transcription: RNA-binding proteins steering angiogenesis. [PDF]

Am J Physiol Heart Circ Physiol
Hamm K, Clifford E, Kozak KN, Cullison J, Iqbal H, Yan R, Xing Y, Liu Z.   +7 more
europepmc   +1 more source

Compensatory Interplay Between Clarin‐1 and Clarin‐2 Deafness‐Associated Proteins Governs Phenotypic Variability in Hearing

Advanced Science, EarlyView.
Functional compensation between clarin‐1 and clarin‐2 in cochlear hair cells. Hearing loss associated with CLRN1 mutations shows striking phenotypic variability; however, the underlying mechanisms remain poorly understood. This study reveals that clarin‐1 and clarin‐2 function cooperatively in cochlear hair cells to sustain mechanoelectrical ...
Maureen Wentling, Aïda Yakhlef Sanchez, Nicolas Thelen, Müge Senarisoy, Maria Hogg, Steven Condamine, Andrea Lelli, Emilia Wysocka, Pranav Patni, Sandrine Vitry, Kerem Yasin Yildizhan, Sébastien Le Gal, Sylvie Nouaille, Michael R. Bowl, Marc Thiry, Didier Dulon, Sedigheh Delmaghani, Aziz El‐Amraoui   +17 more
wiley   +1 more source

A transcriptomic atlas at bulk and single-cell levels identifies novel transcriptional and splicing regulators of ECM homeostasis in osteoarthritis. [PDF]

Front Genet
Ye X, Zheng C, Li H.
europepmc   +1 more source

A Murine Database of Structural Variants Identifies A Candidate Gene for a Spontaneous Murine Lymphoma Model

Advanced Science, EarlyView.
We analyzed long‐read genomic sequencing data obtained from 40 inbred mouse strains to produce a large database of structural variants. This dataset captures the major types of structural variants, which includes deletions, insertions, duplications, and inversions.
Wenlong Ren, Zhuoqing Fang, Egor Dolzhenko, Christopher T. Saunders, Zhuanfen Cheng, Victoria Popic, Gary Peltz   +6 more
wiley   +1 more source

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to target <i>ABCA4</i> splice variants in Stargardt disease. [PDF]

Mol Ther Nucleic Acids
Liou RH, Urrutia-Cabrera D, Liu CF, Wu S, Westin IM, Golovleva I, Liu GS, Kumar S, McLenachan S, Chen FK, Hsu FT, Huang CL, Edwards T, Martin KR, Cheng AW, Wong RCB.   +15 more
europepmc   +1 more source

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

Advanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang, Yuanyuan Zhang, Choulin Chen, Xiaoxian Xu, Shenghua Qin, Junyan Qi, Yongzhou Bao, Huiming Li, Ruipu Chen, Weigang Zheng, Zhilong Chen, Lingzhao Fang, Yunxiang Zhao, Yuwen Liu   +13 more
wiley   +1 more source

SF3B1K700E mutation in human embryonic stem cells causes aberrant expression of immune-related genes. [PDF]

PLoS One
Dastpak M, Mimoso CA, Farshchian M, Paraggio CL, Leonard CE, Yin S, Chi B, Nassar KW, Rowe RG, Zhang J, Hou Z, Daley GQ, Adelman K, Reed R.   +13 more
europepmc   +1 more source

Autosomal Dominant Erythrocytosis Caused by Non‐Renal Erythropoietin (EPO) Due to EPO c.‐136 G>A Germline Mutation

American Journal of Hematology, EarlyView.
A novel erythropoietin (EPO) promoter mutation (c.‐136 G>A) causes autosomal dominant erythrocytosis via non‐renal expression of EPO. ABSTRACT We previously reported a five‐generation kindred with autosomal dominant erythrocytosis associated with a novel germline promoter variant in the erythropoietin (EPO) gene (EPO c.‐136 G>A).
Lucie Lanikova, Dusan Hrckulak, Veronika Zimolova, Felipe R. Lorenzo, Jihyun Song, Katerina Vecerkova, Olga Babosova, Linda Berkova, Vladimir Korinek, Steve Elliott, Josef T. Prchal   +10 more
wiley   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Pre-mRNA splicing and its regulation in microalgae and cyanobacteria. [PDF]

Adv Biotechnol (Singap)
Do S, Liu Y, Huynh H, Liu Y, Li W, Chen MX, Du ZY.   +6 more
europepmc   +1 more source