Results 51 to 60 of about 3,299,410 (331)

Stabilization of hen egg white lysozyme by a cavity‐filling mutation [PDF]

Protein Science, 2001
AbstractStabilization of a protein using cavity‐filling strategy has hardly been successful because of unfavorable van der Waals contacts. We succeeded in stabilizing lysozymes by cavity‐filling mutations. The mutations were checked by a simple energy minimization in advance.
Tadahiro Ohmura, Minoru Saito, Keiichi Ootsuka, Taiji Imoto, Tadashi Ueda   +4 more
openaire   +3 more sources

Modifications in FLAP's second cytosolic loop influence 5‐LOX interaction, inhibitor binding, and leukotriene formation

FEBS Letters, EarlyView.
The enzyme 5‐lipoxygenase (5‐LOX) catalyzes the first step in the biosynthesis of leukotrienes (LTs) involved in inflammatory pathophysiology. After cellular stimulation, 5‐LOX translocates to the nucleus, interacting with the 5‐LOX‐activating protein (FLAP) to form LTA4 from arachidonic acid (AA).
Erik Romp, Katharina Rataj, Stefanie König, Marcia E. Newcomer, Oliver Werz, Ulrike Garscha   +5 more
wiley   +1 more source

Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

Brazilian Journal of Medical and Biological Research, 2013
Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF.
C. Kosan, A. Cayir, M.I. Turan
doaj   +1 more source

Heterozygous frameshift mutation in FaMYB10 is responsible for the natural formation of red and white-fleshed strawberry (Fragaria x ananassa Duch)

Frontiers in Plant Science, 2022
During natural evolution and artificial selection, the fruit color of many species has been repeatedly gained or lost and is generally associated with mutations in genes encoding R2R3-MYB transcription factors, especially MYB10.
Huazhao Yuan, Weijian Cai, Xiaodong Chen, Fuhua Pang, Jing Wang, Mizhen Zhao   +5 more
doaj   +1 more source

Editing the genome to introduce a beneficial naturally occurring mutation associated with increased fetal globin

Nature Communications, 2015
Genetic disorders resulting from defects in the adult globin genes are among the most common inherited diseases. Symptoms worsen from birth as fetal γ-globin expression is silenced.
B. Wienert, Alister P. W. Funnell, Laura J. Norton, Richard C. M. Pearson, Lorna Wilkinson-White, Krystal L. Lester, J. Vadolas, M. Porteus, J. Matthews, K. Quinlan, M. Crossley   +10 more
semanticscholar   +1 more source

Insights into pegRNA design from editing of the cardiomyopathy‐associated phospholamban R14del mutation

FEBS Letters, EarlyView.
This study reveals how prime editing guide RNA (pegRNA) secondary structure and reverse transcriptase template length affect prime editing efficiency in correcting the phospholamban R14del cardiomyopathy‐associated mutation. Insights support the design of structurally optimized enhanced pegRNAs for precise gene therapy.
Bing Yao, Qiangbing Yang, Christian J.B. Snijders Blok, Mark A. Daniels, Pieter A. Doevendans, Raymond Schiffelers, Joost P.G. Sluijter, Zhiyong Lei   +7 more
wiley   +1 more source

Targeting the MDM2‐MDM4 interaction interface reveals an otherwise therapeutically active wild‐type p53 in colorectal cancer

Molecular Oncology, EarlyView.
This study investigates an alternative approach to reactivating the oncosuppressor p53 in cancer. A short peptide targeting the association of the two p53 inhibitors, MDM2 and MDM4, induces an otherwise therapeutically active p53 with unique features that promote cell death and potentially reduce toxicity towards proliferating nontumor cells.
Sonia Valentini, Giada Mele, Marika Attili, Maria Rita Assenza, Fulvio Saccoccia, Francesca Sardina, Cinzia Rinaldo, Roberto Massari, Nicola Tirelli, Alfredo Pontecorvi, Fabiola Moretti   +10 more
wiley   +1 more source

Diffusion tensor imaging of brain white matter in Huntington gene mutation individuals

Arquivos de Neuro-Psiquiatria
Objective To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12
Roberta Arb Saba, James H. Yared, Thomas M. Doring, Med Phys, Vanderci Borges, Henrique Ballalai Ferraz   +5 more
doaj   +1 more source

Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans

Journal of Clinical Endocrinology and Metabolism, 2018
Context Somatic mutations have been identified in more than half of aldosterone-producing adenomas (APAs) through mutation hotspot sequencing. The underlying pathogenesis of inappropriate aldosterone synthesis in the remaining population is still unknown.
K. Nanba, K. Omata, T. Else, P. C. Beck, A. Nanba, Adina F. Turcu, Barbra S Miller, T. Giordano, S. Tomlins, W. Rainey   +9 more
semanticscholar   +1 more source

Somatic mutations of esophageal adenocarcinoma: a comparison between Black and White patients

Scientific Reports, 2023
Abstract Esophageal adenocarcinoma is the most common histological subtype of esophageal cancer in Western countries and shows poor prognosis with rapid growth. EAC is characterized by a strong male predominance and racial disparity. EAC is up to five-fold more common among Whites than Blacks, yet Black patients with EAC have poorer survival ...
Lim, Hyeyeun, Gingras, Marie-Claude, Zhao, Jing, Byun, Jinyoung, Castro, Patricia D, Tsavachidis, Spiridon, Hu, Jianhong, Doddapaneni, Harshavardhan, Han, Yi, Muzny, Donna M, Gibbs, Richard A, Amos, Christopher I, Thrift, Aaron P   +12 more
openaire   +4 more sources