Results 151 to 160 of about 1,262,664 (328)

Detection of Genetic Variants of Transthyretin by Liquid Chromatography–Dual Electrospray Ionization Fourier-Transform Ion-Cyclotron-Resonance Mass Spectrometry [PDF]

, 2004
Angelito I. Nepomuceno, Christopher J. Mason, David C. Muddiman, H. Robert Bergen, Steven R. Zeldenrust   +4 more
openalex   +1 more source

An upstream open reading frame regulates expression of the mitochondrial protein Slm35 and mitophagy flux

FEBS Letters, EarlyView.
This study reveals how the mitochondrial protein Slm35 is regulated in Saccharomyces cerevisiae. The authors identify stress‐responsive DNA elements and two upstream open reading frames (uORFs) in the 5′ untranslated region of SLM35. One uORF restricts translation, and its mutation increases Slm35 protein levels and mitophagy.
Hernán Romo‐Casanueva, Ariann E. Mendoza‐Martínez, P. Abril Medina‐Flores, Carlos Campero‐Basaldua, Alexander DeLuna, Soledad Funes   +5 more
wiley   +1 more source

Recurrent, founder and hypomorphic variants contribute to shaping the genetic landscape of Joubert syndrome

, 2022
Valentina Serpieri, Mortarini Giulia, Loucks Hailey, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C. Dempsey, Fulvio D’Abrusco, Mazzotta Concetta, Roberta Battini, Enrico Bertini, Eugen Boltshauser, Renato Borgatti, Brockmann Knut, Stefano D’Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Romano Alfonso, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente   +27 more
openalex   +1 more source

In situ molecular organization and heterogeneity of the Legionella Dot/Icm T4SS

FEBS Letters, EarlyView.
We present a nearly complete in situ model of the Legionella Dot/Icm type IV secretion system, revealing its central secretion channel and identifying new components. Using cryo‐electron tomography with AI‐based modeling, our work highlights the structure, variability, and mechanism of this complex nanomachine, advancing understanding of bacterial ...
Przemysław Dutka, Yuxi Liu, Stefano Maggi, Debnath Ghosal, Jue Wang, Prashant P. Damke, Stephen D. Carter, Wei Zhao, Sukhithasri Vijayrajratnam, Joseph P. Vogel, Carrie L. Shaffer, Grant J. Jensen   +11 more
wiley   +1 more source

Meta-analysis of TCF7L2 and SLC30A8 gene polymorphisms concerning type 2 diabetes risk

The Egyptian Journal of Internal Medicine
Background Diabetes, defined by high blood glucose readings, poses important worldwide health risks. T2DM is the most prevalent form, accounting for 90% of cases. Genetic variations in genes like SLC30 A8 (rs13266634) and TCF7L2 (rs7903146 and rs12255372)
Jethendra Kumar Muruganantham, Ramakrishnan Veerabathiran   +1 more
doaj   +1 more source

Sequence determinants of RNA G‐quadruplex unfolding by Arg‐rich regions

FEBS Letters, EarlyView.
We show that Arg‐rich peptides selectively unfold RNA G‐quadruplexes, but not RNA stem‐loops or DNA/RNA duplexes. This length‐dependent activity is inhibited by acidic residues and is conserved among SR and SR‐related proteins (SRSF1, SRSF3, SRSF9, U1‐70K, and U2AF1).
Naiduwadura Ivon Upekala De Silva, Puspa Kunwar, Md Ibnul Rifat Rahman, Joanna Koryo Kwao, Nathan Lehman, Zihan Zhang, Trenton Paul, Claire Cheng, Nicholas Truex, Hui‐Ting Lee, Jun Zhang   +10 more
wiley   +1 more source

Genetic variants and risk of asthma in an American Indian population

, 2017
Lyle G. Best, Crystal Azure, Alexandre Segarra, Kendra Enright, Shawn Hamley, Dara Jerome, Marcia O’Leary, Rae O’Leary, Ashley Parisien, Kayana Trottier, Joseph Yracheta, Dara G. Torgerson   +11 more
openalex   +2 more sources

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

Association of a common genetic variant in RNASEL and prostate cancer susceptibility

, 2017
Li Zuo, Kewei Ren, Yu Bai, Lifeng Zhang, Jiangang Zou, Xihu Qin, Yuanyuan Mi, Atsushi Okada, Takahiro Yasui   +8 more
openalex   +2 more sources

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