Results 121 to 130 of about 1,268,660 (340)

Structural instability impairs function of the UDP‐xylose synthase 1 Ile181Asn variant associated with short‐stature genetic syndrome in humans

FEBS Letters, EarlyView.
The Ile181Asn variant of human UDP‐xylose synthase (hUXS1), associated with a short‐stature genetic syndrome, has previously been reported as inactive. Our findings demonstrate that Ile181Asn‐hUXS1 retains catalytic activity similar to the wild‐type but exhibits reduced stability, a looser oligomeric state, and an increased tendency to precipitate ...
Tuo Li, Pedro A. Sánchez‐Murcia, Bernd Nidetzky   +2 more
wiley   +1 more source

Taqman-MGB nanoPCR for Highly Specific Detection of Single-Base Mutations

International Journal of Nanomedicine, 2021
Zhenrui Xue,1– 3,* Minli You,2,3,* Ping Peng,1– 3,* Haoyang Tong,2,3 Wanghong He,2– 4 Ang Li,4 Ping Mao,1– 3 Ting Xu,1 Feng Xu,2,3 Chunyan Yao1 1Department of Transfusion Medicine, Southwest Hospital, Third Military Medical ...
Xue Z, You M, Peng P, Tong H, He W, Li A, Mao P, Xu T, Xu F, Yao C   +9 more
doaj  

453P Utility of re-biopsy and clinical predictive factors of T790M point mutation in EGFR mutated non-small lung cancer [PDF]

, 2016
K. Kirita, H. Udagawa, S. Matsumoto, S. Umemura, K. Yoh, S. Niho, K. Goto   +6 more
openalex   +1 more source

Effects of Point Mutations of Dysferlin on Ca2+ Signaling in Murine Skeletal Myofibers [PDF]

, 2021
Valeriy Lukyanenko, Joaquin M. Muriel, Robert J. Bloch   +2 more
openalex   +1 more source

PICALM::MLLT10 translocated leukemia

FEBS Letters, EarlyView.
This comprehensive review of PICALM::MLLT10 translocated acute leukemia provides an in‐depth review of the structure and function of CALM, AF10, and the fusion oncoprotein (1). The multifaceted molecular mechanisms of oncogenesis, including nucleocytoplasmic shuttling (2), epigenetic modifications (3), and disruption of endocytosis (4), are then ...
John M. Cullen, Antonia C. Nakatsugawa, Natalie Barton, Henry Haines, Gary S. Stein, Janet L. Stein, Daniel S. Wechsler, Jessica L. Heath   +7 more
wiley   +1 more source

Inhibiting stearoyl‐CoA desaturase suppresses bone metastatic prostate cancer by modulating cellular stress, mTOR signaling, and DNA damage response

FEBS Letters, EarlyView.
Bone metastasis in prostate cancer (PCa) patients is a clinical hurdle due to the poor understanding of the supportive bone microenvironment. Here, we identify stearoyl‐CoA desaturase (SCD) as a tumor‐promoting enzyme and potential therapeutic target in bone metastatic PCa.
Alexis Wilson, Mackenzie K Herroon, Shane Mecca, Laimar C Garmo, Jacob Lindquist, Shrila Rajendran, Steve M. Patrick, Izabela Podgorski   +7 more
wiley   +1 more source

VP4 Mutation Boosts Replication of Recombinant Human/Simian Rotavirus in Cell Culture

Viruses
Rotavirus A (RVA) is the leading cause of diarrhea requiring hospitalization in children and causes over 100,000 annual deaths in Sub-Saharan Africa. In order to generate next-generation vaccines against African RVA genotypes, a reverse genetics system ...
Roman Valusenko-Mehrkens, Katja Schilling-Loeffler, Reimar Johne, Alexander Falkenhagen   +3 more
doaj   +1 more source

The (Glg)ABCs of cyanobacteria: modelling of glycogen synthesis and functional divergence of glycogen synthases in Synechocystis sp. PCC 6803

FEBS Letters, EarlyView.
We reconstituted Synechocystis glycogen synthesis in vitro from purified enzymes and showed that two GlgA isoenzymes produce glycogen with different architectures: GlgA1 yields denser, highly branched glycogen, whereas GlgA2 synthesizes longer, less‐branched chains.
Kenric Lee, Dimitrios Bekiari, Sofia Doello, Karl Forchhammer   +3 more
wiley   +1 more source

Hypothalamic-Pituitary-Ovarian Axis during Infancy, Early and Late Prepuberty in an Aromatase-Deficient Girl Who Is a Compound Heterocygote for Two New Point Mutations of the CYP19 Gene [PDF]

, 2003
Alicia Belgorosky, Carolina Pepe, Roxana Marino, Gabriela Guercio, Nora Saraco, Elisa Vaiani, Marco A. Rivarola   +6 more
openalex   +1 more source

mmCSM-PPI: predicting the effects of multiple point mutations on protein–protein interactions [PDF]

, 2021
Carlos H. M. Rodrigues, Douglas E. V. Pires, David B. Ascher   +2 more
openalex   +1 more source