Results 231 to 240 of about 408,305 (347)

Reduced gene dosage is a common mechanism of neuropathologies caused by ATP6AP2 splicing mutations. [PDF]

Parkinsonism Relat Disord, 2022
Edelman WC, Kiianitsa K, Virmani T, Martinez RA, Young JE, Keene CD, Bird TD, Raskind WH, Korvatska O.   +8 more
europepmc   +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

Rapid response of fly populations to gene dosage across development and generations. [PDF]

Nat Commun
Li XC, Gandara L, Ekelöf M, Richter K, Alexandrov T, Crocker J.   +5 more
europepmc   +1 more source

Taste sensitivity to trehalose and its alteration by gene dosage in Drosophila melanogaster. [PDF]

, 1988
Teiichi Tanimura, Kunio Isono, M Yamamoto   +2 more
openalex   +1 more source

Risk Prediction Models for Recurrence After Curative Treatment of Early‐Stage or Locally Advanced Lung Cancer: A Systematic Review

Aging and Cancer, EarlyView.
This systematic review synthesizes prognostic models for survival and recurrence in resected non‐small cell lung cancer. While many models demonstrate moderate to good discrimination, few are externally validated and reporting quality is variable, limiting clinical applicability and highlighting the need for robust, transparent model development ...
Evangeline Samuel, S. Tissera, E. Paul, J. Zalcberg, R. G. Stirling   +4 more
wiley   +1 more source

Tracking Motor Progression and Device‐Aided Therapy Eligibility in Parkinson's Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterise the progression of motor symptoms and identify eligibility for device‐aided therapies in Parkinson's disease, using both the 5‐2‐1 criteria and a refined clinical definition, while examining differences across genetic subgroups.
David Ledingham, Sahana Sathyanarayana, Charlotte B. Stewart, Robyn Iredale, Victoria Foster, Debra Galley, Mark Baker, Nicola Pavese   +7 more
wiley   +1 more source

Recalibrating differential gene expression by genetic dosage variance prioritizes functionally relevant genes [PDF]

Philipp Rentzsch, Aaron Kollotzek, Pejman Mohammadi, Tuuli Lappalainen   +3 more
openalex   +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

Gene dosage adaptations to mtDNA depletion and mitochondrial protein stress in budding yeast. [PDF]

G3 (Bethesda)
McNamara JT, Zhu J, Wang Y, Li R.
europepmc   +1 more source

Additional file 1: Table S1. of GBS-based single dosage markers for linkage and QTL mapping allow gene mining for yield-related traits in sugarcane

, 2017
Thiago Willian Almeida Balsalobre, Guilherme da Silva Pereira, Gabriel Rodrigues Alves Margarido, Rodrigo Gazaffi, Fernanda Barreto, Carina Anoni, Cláudio Benício Cardoso-Silva, Estela Araújo Costa, Melina Cristina Mancini, Hermann Paulo Hoffmann, Anete Pereira de Souza, Antonio Garcia, Monalisa Carneiro   +12 more
openalex   +1 more source