Results 221 to 230 of about 394,248 (332)

Identification and functional characteristics of a novel splice site variant in <i>L1CAM</i> caused X-linked hydrocephalus. [PDF]

Front Genet
Zhou S, Zhang H, Li X, Chen Q, Xu Z.
europepmc   +1 more source

Evidence that the matrix protein of influenza C virus is coded for by a spliced mRNA [PDF]

, 1988
Masakane Yamashita, Mark Krystal, Peter Palese   +2 more
openalex   +1 more source

Exome Sequencing Reveals the Genetic Architecture of Non‐syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene

Advanced Science, EarlyView.
Nonsyndromic orofacial clefts (NSOFCs) are the most common craniofacial defects. Exome sequencing of 214 sporadic cases sheds new light on its genetic architecture and identifies many candidate pathogenic variants. Furthermore, functional studies establish BOC as a novel causal gene and reveal an unusual two‐locus model of inheritance via the epistatic
Qing He, Min Yu, Yuhua Jiao, Yizhu Xu, Xuqin Liang, Wenbin Huang, Linping Xu, Yuxia Hou, Zhanping Ren, Beile Lyu, Zhenwei Qian, Pengpeng Liu, Jing Zhou, Huimei Huang, Chunyan Yin, Huaxiang Zhao, Yi Ding   +16 more
wiley   +1 more source

Functional analyses of splice site variants in TCF12. [PDF]

Hum Genomics
Borst A, Schweitzer T, Horn D, Kunstmann E, König EM, Pluta N, Klopocki E.   +6 more
europepmc   +1 more source

Activation of thermosensitive RNA splicing and production of a heat-labile P85gag-mos kinase by the introduction of a specific deletion in murine sarcoma virus-124 DNA [PDF]

, 1988
Maryellen de Mars, Paul E. Cizdziel, Edwin C. Murphy   +2 more
openalex   +1 more source

IncRNA‐ZFAS1, an Emerging Gate‐Keeper in DNA Damage‐Dependent Transcriptional Regulation

Advanced Science, EarlyView.
LncZFAS1 plays a crucial role during DNA damage response in mammalian cells. Loss of lncZFAS1 results in deficient DNA lesion removal and reduced cell viability. Mechanistically, lncZFAS1 modulates RNAPII phosphorylation and transcription and thereby promotes both GG‐NER and TC‐NER upon UV damage.
Jiena Liu, Qing Lu, Zixuan Fan, Jiahui Lin, Nan He, Xin Zhang, Zhaoya Han, Tingting Zhu, Zhenzhen Wu, Yingying Xu, Yuming Wang   +10 more
wiley   +1 more source

De Novo Splice Site Variant of TCF12 in a Boy With Isolated Kallmann Syndrome. [PDF]

Case Rep Endocrinol
Suzuki E, Shima H, Ueda A, Nakabayashi K, Matsubara K, Kuroki Y, Kanno J, Fukami M.   +7 more
europepmc   +1 more source

Epigenetic Activation of CCDC183‐AS1 Promotes Osteoclastogenesis and Prostate Cancer Bone Metastasis Through the FUBP1/LIGHT Axis

Advanced Science, EarlyView.
CCDC183‐AS1 overexpression enhanced the ability of PCa cells to spread to the bone by inducing osteoclastogenesis. Mechanistically, CCDC183‐AS1 interacted with FUBP1 and enhanced its stability, which promoted the transcription of TNFSF14 (LIGHT). Copy number gain‐induced KDM5C epigenetically upregulated CCDC183‐AS1 expression by recruiting TET1 to the ...
Chuandong Lang, Xiangyu Mu, Kun Chen, Xinwen Wang, Yuluo Rong, Jia Wang, Zongcheng Yang, Chi Yin, Yuhu Dai, Jun Xiao, Wenzhi Zhang   +10 more
wiley   +1 more source

Alternative Splicing in Tumorigenesis and Cancer Therapy. [PDF]

Biomolecules
Chen H, Tang J, Xiang J.
europepmc   +1 more source

Evidence from complementation assays in vitro that U5 snRNP is required for both steps of mRNA splicing. [PDF]

, 1989
Gerd Winkelmann, M.A. Bach, Reinhard Lührmann   +2 more
openalex   +1 more source