Results 121 to 130 of about 1,412,344 (374)

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model [PDF]

, 2014
Loeys-Dietz syndrome (LDS) is an autosomal dominant arterial aneurysm disease belonging to the spectrum of transforming growth factor beta (TGF beta)-associated vasculopathies. In its most typical form it is characterized by the presence of hypertelorism,
Callewaert, Bert, Campens, Laurence, Casteleyn, Christophe, Cornillie, Pieter, Coucke, Paul, De Backer, Julie, De Paepe, Anne, De Vos, Filip, Deleye, Steven, Dietz, Harry, Essers, Jeroen, Loeys, Bart, Renard, Marjolijn, Segers, Patrick, Staelens, Steven, Trachet, Bram, van Heijningen, Paula, Vandeghinste, Bert   +17 more
core   +4 more sources

Therapeutic targeting of TP53 nonsense mutations in cancer

Upsala Journal of Medical Sciences
Mutations in the TP53 tumor suppressor gene occur with high prevalence in a wide range of human tumors. A significant fraction of these mutations (around 10%) are nonsense mutations, creating a premature termination codon (PTC) that leads to the expression of truncated inactive p53 protein.
Charlotte Strandgren, Klas G. Wiman
openaire   +3 more sources

MALMPS: A Machine Learning‐Based Metabolic Gene Prognostic Signature for Stratifying Clinical Outcomes and Molecular Heterogeneity in Stage II/III Colorectal Cancer

Advanced Science, EarlyView.
Chen et al. identified a metabolic gene prognostic signature with machine‐learning framework and assessed the prognostic value in independent CRC cohorts. The metabolic signature subtypes are characterized by specific metabolic and proteomic characteristics, and associated with distinct molecular pathway and therapeutic potential.
Hao Chen, Ze Wang, Chenglong Sun, Yang Zhong, Yuan Liu, Yikun Li, Tongchao Zhang, Yuan Zhang, Xingyu Zhu, Leping Li, Feifei Teng, Ming Lu, Wei Chong   +12 more
wiley   +1 more source

A novel nonsense mutation in cathepsin C gene in an Egyptian patient presenting with Papillon–Lefèvre syndrome

Egyptian Journal of Medical Human Genetics, 2015
Background Cathepsin C gene (CTSC) (MIM#602365) is a lysosomal cysteine proteinase coding gene which encodes for CTSC protein that plays a major role in the activation of granule serine proteases, particularly leukocyte elastase and granzymes A and B ...
Hala Soliman, Heba Gamal Eldeen, Mustafa Ibrahim Mustafa   +2 more
doaj   +1 more source

AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice

Nature, 2022
Jiaming Wang, Yue Zhang, Craig A Mendonca, O. Yukselen, Khaja Muneeruddin, Lingzhi Ren, Jialing Liang, Chendong Zhou, Jun Xie, Jia Li, Zhong Jiang, Alper Kucukural, Scott A Shaffer, Guangping Gao, Dan Wang   +14 more
semanticscholar   +1 more source

Identification of a Nonsense Mutation in CWC15 Associated with Decreased Reproductive Efficiency in Jersey Cattle

PLoS ONE, 2013
With the recent advent of genomic tools for cattle, several recessive conditions affecting fertility have been identified and selected against, such as deficiency of uridine monophosphate synthase, complex vertebral malformation, and brachyspina.
T. Sonstegard, J. Cole, P. Vanraden, C. V. Van Tassell, D. Null, Steven G. Schroeder, D. Bickhart, M. McClure   +7 more
semanticscholar   +1 more source

Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]

, 2016
Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai, Jablons, David M, Jen, Kuang-Yu, Jones, Kirk, Kang, Hio Chung, Kim, Hong Kwan, Kim, Il-Jin, Kim, James Wansoo, Lee, Sharon, Mendez, Pedro, Woodard, Gavitt, Yoon, Jun-Hee   +11 more
core   +3 more sources

Inhibiting FAT1 Blocks Metabolic Bypass to Enhance Antitumor Efficacy of TCA Cycle Inhibition through Suppressing CPT1A‐Dependent Fatty Acid Oxidation

Advanced Science, EarlyView.
This study demonstrates that mutant FAT1 promotes ASCL2‐driven, CPT1A‐dependent fatty acid oxidation, leading to resistance to CPI‐613‐mediated TCA cycle inhibition in head and neck cancer. In vivo gene depletion of mutant FAT1 with LNP‐sgFAT1 suppresses tumor growth and restores CPI‐613 sensitivity, revealing a targetable metabolic bypass with ...
Fanghui Chen, Jianqiang Yang, David O. Popoola, Fan Yang, Yajie Liu, Dongsheng Wang, Zhaohui S. Qin, Zhengjia Chen, Nabil F. Saba, Zhuo G. Chen, Yamin Li, Yong Teng   +11 more
wiley   +1 more source

Genetic diagnosis as a tool for personalized treatment of Duchenne muscular dystrophy [PDF]

, 2016
Accurate definition of genetic mutations causing Duchenne muscular dystrophy (DMD) has always been relevant in order to provide genetic counseling to patients and families, and helps to establish the prognosis in the case where the distinction between ...
Bello, Luca, Pegoraro, Elena
core  

A nonsense mutation in PRNP associated with clinical Alzheimer's disease

Neurobiology of Aging, 2014
Here, we describe a nonsense haplotype in PRNP associated with clinical Alzheimer's disease. The patient presented an early-onset of cognitive decline with memory loss as the primary cognitive problem. Whole-exome sequencing revealed a nonsense mutation in PRNP (NM_000311, c.C478T; p.Q160*; rs80356711) associated with homozygosity for the V allele at ...
Guerreiro, Rita, Brás, José, Wojtas, Aleksandra, Rademakers, Rosa, Hardy, John, Graff-Radford, Neill   +5 more
openaire   +4 more sources