Results 31 to 40 of about 880,486 (157)

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants [PDF]

, 2021
RAD51D loss-of-function variants increase lifetime risk of breast and ovarian cancer. Splicing disruption is a frequent pathogenic mechanism associated with variants in susceptibility genes.
Lázaro, Conxi, Elena Bueno-Martínez, Eladio A. Velasco, Sanoguera-Miralles, L., Bueno-Martinez, E., Infante, Mar, Lorca, V., Perez-Segura, P., Pérez-Segura, Pedro, Hoya, Miguel de la, Easton, Douglas F., Conxi Lázaro, Alberto Valenzuela-Palomo, Velasco, E.A., Lorca, Víctor, Velasco, Eladio, Víctor Lorca, Sara Carvalho, Allen, Jamie, Peter Devilee, Gomez-Sanz, A., Velasco, Eladio A., Alicia Gómez-Sanz, Vreeswijk, M.P.G., Valenzuela-Palomo, Alberto, Infante, M., Bueno-Martínez, Elena, Vreeswijk, Maaike P. G., Gómez-Sanz, Alicia, Gómez Sanz, Alicia, Easton, D.F., Lara Sanoguera-Miralles, Hoya, M. de la, Pedro Pérez-Segura, Mar Infante, Pérez Segura, Pedro, Devilee, Peter, Carvalho, S., Miguel de la Hoya, Sanoguera-Miralles, Lara, Bueno Martínez, Elena, Carvalho, Sara, Valenzuela-Palomo, A., Douglas F. Easton, Devilee, P., Lazaro, C., Jamie Allen, Lázaro García, Conxi, Maaike P. G. Vreeswijk, Sanoguera Miralles, Lara, Allen, J., Valenzuela Palomo, Alberto   +51 more
core   +6 more sources

A Novel Mutation c.3392G>T of COL2A1 Causes Spondyloepiphyseal Dysplasia Congenital by Affecting Pre-mRNA Splicing

Frontiers in Genetics, 2022
Spondyloepiphyseal dysplasia congenital (SEDC) is a rare chondrodysplasia caused by dominant pathogenic variants in COL2A1. Here, we detected a novel variant c.3392G > T (NM_001844.4) of COL2A1 in a Chinese family with SEDC by targeted next-generation
Lihong Fan, Longfei Ji, Yuqing Xu, Guosong Shen, Kefeng Tang, Zhi Li, Sisi Ye, Xueping Shen   +7 more
doaj   +1 more source

The MSH2 c.793-1G>A variant disrupts normal splicing and is associated with Lynch syndrome

Frontiers in Oncology, 2023
InstructionLynch syndrome (LS) is the most common inherited cancer predisposition disorder of colorectal cancer (CRC) which is associated with pathogenic variants in 4 mismatch repair (MMR) genes.
Yiming Li, Yiming Li, Yiming Li, Lulu Yu, Lulu Yu, Lulu Yu, Jiajia Cui, Jiajia Cui, Jiajia Cui, Jiye Yin, Jiye Yin, Jiye Yin, Wei Wu, Wei Wu, Wei Wu   +14 more
doaj   +1 more source

Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay

, 2023
Background Autosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 gene or PKD2 gene.
Fengjiao Pan, Xuyan Liu, Xiaomeng Shi, Zhiying Liu, Changying Li, Ruixiao Zhang, Qing Xin, Wencong Guo, Mengke Chen, Yiyin Zhang, Yan Zhang, Leping Shao, Dan Qiao   +12 more
core   +1 more source

Functional coordination of alternative splicing in the mammalian central nervous system [PDF]

, 2007
BACKGROUND: Alternative splicing (AS) functions to expand proteomic complexity and plays numerous important roles in gene regulation. However, the extent to which AS coordinates functions in a cell and tissue type specific manner is not known.
Saltzman, A.L., Rozenhek, A., Christine Misquitta, Ofer Shai, Frey, B.J., Blencowe, B.J., Babak, T., Aviad Rozenhek, Misquitta, C., Mohammad, N., Zhang, W., Brendan J Frey, Lee, L., Arneet L Saltzman, Timothy R Hughes, Willaime-Morawek, S., Qun Pan, Leo Lee, Derek van der Kooy, Barash, Y., Wen Zhang, Yoseph Barash, Joanna Y Ip, Benjamin J Blencowe, Pan, Q., Matthew Fagnani, Sandrine Willaime-Morawek, van der Kooy, D., Naveed Mohammad, Fagnani, M., Shai, O., Hughes, T.R., Tomas Babak   +32 more
core   +1 more source

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family

Molecular Genetics & Genomic Medicine, 2020
Background Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein ...
Yaxin Han, Dongming Wang, Jinli Guo, Qiuhong Xiong, Ping Li, Yong‐An Zhou, Bin Zhao   +6 more
doaj   +1 more source

Sessiz tümör süpresör gen mutasyonlarının mrna işlenmesi üzerine olası etkilerinin minigene splicing assay ile saptanması

, 2022
Giriş: Ökaryotik genlerin transkript ürünleri öncü bir mRNA (pre-mRNA) olarak sentezlenir ve ‘Alternative splicing’ ile genelde tek pre-mRNA’dan çok sayıda olgun-mRNA oluşturulur.
Altungöz, Oğuz
core   +1 more source

Minigene splicing assay of BRCA1 exon 11.

, 2012
A. The pB1 wild type (WT) version of the minigene is shown. PCMV = promoter of the pCDNA3 vector. ATG = start codon. TAG = stop codon. +3C = insertion of cytosine as the third nucleotide in exon 8. pA = poly A signal.
Michela Raponi (164344), Andrew G. L. Douglas (164348), Diana Baralle (164355), Claudia Tammaro (164350), David I. Wilson (164352)   +4 more
core   +1 more source

RBM25 Drives Hepatocellular Carcinoma Progression by Stabilizing YAP Through Regulating Oncogenic Splicing‐switch of MYPT1

Advanced Science, EarlyView.
This study establishes that the RBM25‐PRPF40A interaction modulates MYPT1 splicing, promoting the production of the oncogenic long isoform. This isoform stabilizes YAP by suppressing its phosphorylation and subsequent proteasomal degradation, ultimately accelerating tumor growth.
Wenjing Zhang, Lili Zhi, Tian Huang, Lingya Feng, Chaoqun Chen, Huanhuan Wei, Xiaolong Liu, Lei Chen, Jinrui Zhang, Ge Zhang, Baofeng Zhao, Rong Liu, Dan Chen, Yangfan Qi, Yang Wang   +14 more
wiley   +1 more source

Extending the ATP9A‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT ATP9A, which belongs to the P4‐ATPase family of proteins, is involved in the efficient transport of vesicles from the Golgi apparatus to the plasma membrane, as well as the release of extracellular vesicles from human cells. In 2021, a loss‐of‐function variant of this gene was identified as being associated with a recessive neurodevelopmental ...
Camille Verebi, Céline Louveau, Bertrand Diebold, Natacha Gaitch, Arnaud Hubas, Martine Gautier Vallee, Jérôme Champ, Anais L'Haridon, Sophie Georgin Lavialle, Boris Chaumette, Thierry Bienvenu   +10 more
wiley   +1 more source