Results 111 to 120 of about 553,332 (236)

A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods

HGG Advances
Summary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion ...
Rachel Y. Oh, Ali AlMail, David Cheerie, George Guirguis, Huayun Hou, Kyoko E. Yuki, Bushra Haque, Bhooma Thiruvahindrapuram, Christian R. Marshall, Roberto Mendoza-Londono, Adam Shlien, Lianna G. Kyriakopoulou, Susan Walker, James J. Dowling, Michael D. Wilson, Gregory Costain   +15 more
doaj   +1 more source

The cooperative regulation of miR‐221 by APE1 and AUF1 impacts p27Kip1 defining a miR signature relevant for cervical cancer

FEBS Open Bio, EarlyView.
A regulatory axis involving APE1, AUF1, and miR‐221 is proposed. Pri‐miR‐221 is processed by DROSHA and DICER to generate mature miR‐221, which targets p27Kip1 mRNA. APE1 and AUF1 compete for pre‐miR‐221 binding. Reduced APE1/AUF1 levels impair miR‐221 biogenesis, decrease p27Kip1 mRNA degradation, and promote cell cycle progression, chemoresistance ...
Matilde Clarissa Malfatti, Nicolò Gualandi, Gianluca Tell, Giulia Antoniali   +3 more
wiley   +1 more source

Erythropoietin modulates hepatic inflammation, glucose homeostasis, and soluble epoxide hydrolase and epoxides in high‐fat diet‐induced obese mice

FEBS Open Bio, EarlyView.
Erythropoietin administration suppresses hepatic soluble epoxide hydrolase (sEH) expression, leading to increased CYP‐derived epoxides. This is associated with a shift in hepatic macrophage polarization characterized by reduced M1 markers and increased M2 markers, along with reduced hepatic inflammation, suppressed hepatic lipogenesis, and attenuated ...
Takeshi Goda, Satoru Sugimoto, Chiharu Cho, Madoka Konishi, Nozomi Inoue, Satoshi Miyagaki, Yasuhiro Kawabe, Takuro Okamura, Masahide Hamaguchi, Hisakazu Nakajima, Michiaki Fukui, Masakazu Shinohara, Tomoko Iehara   +12 more
wiley   +1 more source

Exon 7 splicing of ERα predicts poor prognosis and increases phenotypic heterogeneity in luminal a subtype breast cancer

FEBS Open Bio, EarlyView.
ERα splice variant ERα∆7 lacks the C‐terminus, and its expression may change phenotypes of breast cancers. Our results showed that ERα∆7 is found in the luminal A subtype, and elevated ERα∆7 levels are linked to improved cell survival with lower proliferation and migration.
Long Wai Tsui, Taobo Hu, Thomson Christian Husein, Wai Hei Shek, Bingrong Chen, Depeng Wang, Shu Wang, Weichuan Yu, Xiaodan Fan, Mengping Long, Toyotaka Ishibashi   +10 more
wiley   +1 more source

Quantitative proteomic analysis reveals different characteristics of bladder cancer cells after exposure to bisphenol A

FEBS Open Bio, EarlyView.
Bisphenol A (BPA), a common chemical in plastics, exerts dual effects on bladder cancer cells: low doses promote growth and migration, while high doses suppress growth and migration. Multi‐omics and bioinformatics reveal BPA acts via MAPK and inflammatory pathways.
Shaomin Niu, Lanlan Li, Wenjuan Jia, Hanzhong Feng, Xiaoquan Yu, Youli Zhao, Fengzhi Yuan, Hui Ding, Junqiang Tian, Yong‐Xing He, Zhiping Wang   +10 more
wiley   +1 more source

Decreased cold‐sensing function of the transient receptor potential channel TRPM8 from tailed amphibians

FEBS Open Bio, EarlyView.
Despite frogs avoiding low temperatures, examination of four salamander species revealed that none avoided cold and all possessed cold tolerance. Functional analysis of TRPM8, a cold sensor, showed that all salamander TRPM8s had lost their cold sensitivity.
Tadahiro Sawao, Daiki Kobayashi, Shogo Hori, Osamu Saitoh   +3 more
wiley   +1 more source

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

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +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

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