Results 141 to 150 of about 7,252,476 (351)

Single‐cell polyadenylation site mapping reveals 3′ isoform choice variability

Molecular Systems Biology, 2015
Cell‐to‐cell variability in gene expression is important for many processes in biology, including embryonic development and stem cell homeostasis. While heterogeneity of gene expression levels has been extensively studied, less attention has been paid to
Lars Velten, Simon Anders, Aleksandra Pekowska, Aino I Järvelin, Wolfgang Huber, Vicent Pelechano, Lars M Steinmetz   +6 more
doaj   +1 more source

Regulator of calcineurin 1 gene isoform 4 in pancreatic ductal adenocarcinoma regulates the progression of tumor cells. [PDF]

Oncogene, 2021
Lao M, Zhang X, Ma T, Xu J, Yang H, Duan Y, Ying H, Zhang X, Guo C, Qiu J, Bai X, Liang T.   +11 more
europepmc   +1 more source

SIRT4 positively regulates autophagy via ULK1, but independently of HDAC6 and OPA1

FEBS Open Bio, EarlyView.
Cells expressing SIRT4 (H161Y), a catalytically inactive mutant of the sirtuin SIRT4, fail to upregulate LC3B‐II and exhibit a reduced autophagic flux under stress conditions. Interestingly, SIRT4(H161Y) promotes phosphorylation of ULK1 at S638 and S758 that are associated with inhibition of autophagy initiation.
Isabell Lehmkuhl, Khawar Amin, Lydia Gabriel, Nils Hampel, Afshin Iram, Julia Hesse, Constanze Wiek, Jasmin Thuy Vy Nguyen, Helmut Hanenberg, Jürgen Scheller, M. Reza Ahmadian, Björn Stork, Doreen M. Floss, Roland P. Piekorz   +13 more
wiley   +1 more source

Differential expression of a new isoform of DLG2 in renal oncocytoma

BMC Cancer, 2006
Background Renal oncocytoma, a benign tumour of the kidney, may pose a differential diagnostic problem due to overlapping phenotype with chromophobe renal cell carcinoma or other types of renal cell tumours. Therefore, identification of molecular markers
Kovacs Gyula, Stupar Zorica, Zubakov Dmitry   +2 more
doaj   +1 more source

Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders [PDF]

, 2004
Background Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births.
A Lernmark, Alex F Markham, B Hagberg, BG Condie, C Geoffrey Woods, CL Fawer, Clare N Lynex, CM Wiles, David T Bonthon, DF Bu, DF Bu, DJ Stone, DL Martin, DL Martin, DP McHale, DP McHale, E Maestrini, Eamonn R Maher, F Sandbrink, G Gaffney, GE Homanics, H Asada, H Mitoma, HM Meinck, I Hughes, Ian M Carr, J Kim, J Volpe, Jack P Leek, JO Forfar, JS Lappalainen, K Burk, K Dinkel, KCK Kuban, KH Gustavson, LM Dubowitz, LM Levy, M Baraitser, M Solimena, M Solimena, MC Dalakas, MG Erlander, MH Butler, N Laprade, N Paneth, POD Pharoah, PS Eicher, PT Bosma, Rajgopal Achuthan, RW Bond, S Bundey, S Chattopadhyay, S Kono, S Kure, S Mitchell, SD Chessler, Simon Mitchell, V Cormier-Daire   +57 more
core   +2 more sources

Plasma p‐tau181 as a Marker of Conversion to Alzheimer's Disease Dementia and Worsening in Cognitive Functions in Subjective Cognitive Decline and Mild Cognitive Impairment: A Longitudinal Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Plasma p‐tau181 has proven to be a promising diagnostic and prognostic tool in the earliest phases of Alzheimer's disease (AD). We aimed to evaluate the prognostic role of p‐tau181 in predicting conversion to AD dementia and worsening in cognition in mild cognitive impairment (MCI) and subjective cognitive decline (SCD).
Giulia Giacomucci, Assunta Ingannato, Chiara Crucitti, Silvia Bagnoli, Elisa Marcantelli, Sonia Padiglioni, Valentina Moschini, Carmen Morinelli, Laura Falsini, Sandro Sorbi, Valentina Berti, Benedetta Nacmias, Valentina Bessi   +12 more
wiley   +1 more source

An isoform quantitative trait locus in SBNO2 links genetic susceptibility to Crohn’s disease with defective antimicrobial activity

Nature Communications
Despite major advances in linking single genetic variants to single causal genes, the significance of genetic variation on transcript-level regulation of expression, transcript-specific functions, and relevance to human disease has been poorly ...
Dominik Aschenbrenner, Isar Nassiri, Suresh Venkateswaran, Sumeet Pandey, Matthew Page, Lauren Drowley, Martin Armstrong, Subra Kugathasan, Benjamin Fairfax, Holm H. Uhlig   +9 more
doaj   +1 more source

Trans-activators Regulating Neuronal Glucose Transporter Isoform-3 Gene Expression in Mammalian Neurons [PDF]

, 2004
Augustine Rajakumar, Shanthie Thamotharan, Nupur Raychaudhuri, Ram K. Menon, Sherin U. Devaskar   +4 more
openalex   +1 more source

Characterization of the Cap ‘n’ Collar Isoform C gene in Spodoptera frugiperda and its Association with Superoxide Dismutase [PDF]

, 2020
Yiou Pan, Xiaochun Zeng, Shuyuan Wen, Xuemei Liu, Qingli Shang   +4 more
openalex   +1 more source

Exosome Proteomics of SOD1D90A Mutation Suggest Early Disease Mechanisms, and FN1 as a Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Amyotrophic lateral sclerosis (ALS) is a neuromuscular disease. Super oxide dismutase 1 (SOD1) gene mutations cause ALS, and the D90A mutation is associated with primarily upper motor neuron (UMN) loss. Objective Our goal is to reveal the early cellular events in ALS pathology and identify potential pharmacokinetic biomarkers, using well ...
Mukesh Gautam, Ali Laith, Aslihan Gunel, Melda Yilmaz, Nazli Basak, Halil Idrisoglu, P. Hande Ozdinler   +6 more
wiley   +1 more source