Results 121 to 130 of about 374,748 (298)

Aging Is a Key Driver for Adult Acute Myeloid Leukemia

Aging and Cancer, EarlyView.
Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

Aging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang, Zhong Fan, Runmeng Liu, Xiaotian Zhang   +3 more
wiley   +1 more source

Impact of Alternative Splicing on the Human Proteome

Cell Reports, 2017
Summary: Alternative splicing is a critical determinant of genome complexity and, by implication, is assumed to engender proteomic diversity. This notion has not been experimentally tested in a targeted, quantitative manner.
Yansheng Liu, Mar Gonzàlez-Porta, Sergio Santos, Alvis Brazma, John C. Marioni, Ruedi Aebersold, Ashok R. Venkitaraman, Vihandha O. Wickramasinghe   +7 more
doaj   +1 more source

Premature polyadenylation-mediated loss of stathmin-2 is a hallmark of TDP-43-dependent neurodegeneration. [PDF]

, 2019
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are associated with loss of nuclear transactive response DNA-binding protein 43 (TDP-43).
Artates, Jon W, Baughn, Michael W, Beccari, Melinda S, Bennett, C Frank, Cleveland, Don W, Da Cruz, Sandrine, Drenner, Kevin, Freyermuth, Fernande, Lagier-Tourenne, Clotilde, Lin, Nianwei, López-Erauskin, Jone, McMahon, Moira A, Melamed, Ze'ev, Ohkubo, Takuya, Ravits, John, Rigo, Frank, Rodriguez, Maria, Sun, Ying, Wu, Dongmei, Zhang, Ouyang   +19 more
core  

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Alternative splicing in the RBMXL1 5′-UTR induces uORF-mediated translation control in activated B lymphocytes

Scientific Reports
The RNA binding motif X-linked (RBMX) gene plays multiple roles in gene transcription and alternative splicing regulation. Modifications to its expression have been associated with the development of various cancers.
Sylvain de Breyne, Hélène Polvèche, Didier Auboeuf, Théophile Ohlmann, Henri Gruffat, Evelyne Manet   +5 more
doaj   +1 more source

TBK1‐Associated Primary Lateral Sclerosis Followed by Right Temporal Variant Frontotemporal Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We report a 58‐year‐old woman with a novel splice‐site variant in the TANK‐binding kinase 1 (TBK1:c.993–2A>C p.Ala332TyrfsTer39) who sequentially developed primary lateral sclerosis (PLS) followed by right temporal variant frontotemporal dementia (rtvFTD). Neuroimaging demonstrated right anterior temporal atrophy before cognitive symptoms, and
Tomoyasu Matsubara, Naoki Kihara, Satoko Miyatake, Koji Fujita, Konoka Tachibana, Ryosuke Miyamoto, Hiroki Yamazaki, Yusuke Osaki, Nazere Keyoumu, Yuki Kuwano, Nobutoshi Morimoto, Suzuran Saito, Eriko Koshimizu, Yoichi Otomi, Kenji Ishibashi, Masafumi Harada, Naomichi Matsumoto, Hiroyuki Morino, Yuishin Izumi   +18 more
wiley   +1 more source

Identification of novel transcripts and peptides in developing murine lens. [PDF]

, 2018
We previously investigated the transcriptome and proteome profiles of the murine ocular lens at six developmental time points including two embryonic (E15 and E18) and four postnatal time points (P0, P3, P6, and P9).
Ali, Muhammad, Chen, Ruiqiang, Hackett, Sean F, Kabir, Firoz, Khan, Shahid Y, Lee, Mei-Chong W, Na, Chan Hyun, Pourmand, Nader, Riazuddin, S Amer   +8 more
core   +1 more source

Innate Immune Reprogramming Mediated by Endogenous Retroelement Dysregulation Drives Multiple Sclerosis Progression

Annals of Clinical and Translational Neurology, EarlyView.
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao, Qiu‐Ping Zhao, Run‐Yun Li, Wei Chen, Huan‐Huan Song, Wan‐Jin Chen, Ying Fu   +6 more
wiley   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source