Results 161 to 170 of about 83,578 (286)

Atypical splice-site mutations causing VEXAS syndrome

Rheumatology, 2021
Olivier Hermine, Gilles Hayem, Olivier Tournillhac, Pascal Priollet, Guillaume Le Guenno, Chloé Friedrich, Julien Rossignol, Olivier Kosmider, Loria Zalmai, Marie Templé, Benjamin Terrier, Eugénie Duroyon, Carolyne Croizier, Thomas Huet   +13 more
openaire   +2 more sources

Testosterone Delays Bone Microstructural Destruction via Osteoblast‐Androgen Receptor‐Mediated Upregulation of Tenascin‐C

Advanced Science, EarlyView.
This study reveals that Testosterone–Androgen Receptor signaling delays elderly male bone destruction by upregulation of the osteoblastic extracellular tenascin‐C (TNC). The osteoprotective effect of fibrinogen C‐terminus of TNC is demonstrated in male osteoporotic mice model that osteoblast‐specific Ar‐knockout, potentially via inhibition of ...
Yong Xie, Meng Pan, Zeyuan Zhang, Licheng Zhang, Haotian Liu, Xia Wang, William W Lu, Peifu Tang, Wei Ge   +8 more
wiley   +1 more source

Exon 10 skipping caused by intron 10 splice donor site mutation in cholesteryl ester transfer protein gene results in abnormal downstream splice site selection

Journal of Lipid Research, 1996
Cholesteryl ester transfer protein (CETP) deficiency is the most common cause of hyperalphalipoproteinemia in Japan. However, the genetic basis of this disorder has not been fully characterized. We have studied a 49-year-old Japanese male presenting with
N Sakai, S Santamarina-Fojo, S Yamashita, Y Matsuzawa, H.B Brewer, Jr   +4 more
doaj  

Clinical and experimental phenotype of azole-resistant Aspergillus fumigatus with a HapE splice site mutation: a case report. [PDF]

BMC Infect Dis, 2021
Ito Y, Takazono T, Koga S, Nakano Y, Ashizawa N, Hirayama T, Tashiro M, Saijo T, Yamamoto K, Imamura Y, Miyazaki T, Yanagihara K, Izumikawa K, Mukae H.   +13 more
europepmc   +1 more source

A point mutation in the 5′ splice site of the first intron of the dystrophin gene responsible for X-linked dilated cardiomyopathy

, 1996
Jelena Milašin, Francesco Muntoni, Giovanni Maria Severini, Lucia Bartoloni, Matteo Vatta, Maja Krajinović, C. Angelini, Anna Mateddu, Fulvio Camerini, Arturo Falaschi, Luisa Mestroni, Mauro Giacca   +11 more
openalex   +1 more source

A Finnish BRCA1 exon 12 4216-2nt A to G splice acceptor site mutation causes aberrant splicing and frameshift, leading to protein truncation [PDF]

, 2000
Jaana M. Hartikainen, Mia Pirskanen, Airi Arffman, Ulla Ristonmaa, Arto Mannermaa   +4 more
openalex   +1 more source

Ubiquitination‐Dependent LLGL2 Degradation Drives Colorectal Cancer Progression via THBS3 mRNA Stabilization

Advanced Science, EarlyView.
During the progression of CRC, MDM2, as an E3 ubiquitin ligase, promotes the degradation of the LLGL2 protein. Reduced expression of the LLGL2 protein leads to the loss of support for the CNOT1 protein, decreasing the degradation of THBS3 mRNA. The increased THBS3 further activates the PI3K‐Akt pathway, promoting the proliferation and metastasis of CRC.
Jiayan Huang, Tiantian Zhang, Huimin Li, Zidan Li, Shuangshuang Yin, Yiman Liu, Chunze Zhang, Yuling Qiu, Haiyang Yu   +8 more
wiley   +1 more source

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome. [PDF]

Clin Genet, 2022
Canpolat N, Liu D, Atayar E, Saygili S, Kara NS, Westfall TA, Ding Q, Brown BJ, Braun TA, Slusarski D, Karli Oguz K, Ozluk Y, Tuysuz B, Tastemel Ozturk T, Sever L, Sezerman OU, Topaloglu R, Caliskan S, Attanasio M, Ozaltin F.   +19 more
europepmc   +1 more source

A Novel OsMPK6‐OsMADS47‐PPKL1/3 Module Controls Grain Shape and Yield in Rice

Advanced Science, EarlyView.
OsMADS47 is identified as a key regulator governing rice grain morphology. Phosphorylation‐dependent regulation of its activity directs the development of slender versus round grains, modulating both yield and appearance. This mechanism bridges cellular signaling with transcriptional regulation, establishing a molecular framework for grain optimization.
Jingjing Fang, Yan Chun, Fan Zhang, Tingting Guo, Mengmeng Ren, Jinfeng Zhao, Shoujiang Yuan, Wensheng Wang, Yunhai Li, Xueyong Li   +9 more
wiley   +1 more source