Results 211 to 220 of about 640,355 (344)

Points to consider in the reevaluation and reanalysis of genomic test results: a statement of the American College of Medical Genetics and Genomics (ACMG)

Genetics in Medicine, 2019
Joshua L. Deignan, W. Chung, H. Kearney, K. Monaghan, C. Rehder, E. Chao   +5 more
semanticscholar   +1 more source

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

Plant Pathogenic Fungi Special Issue: Genetics and Genomics. [PDF]

Microorganisms
Gonçalves MFM.
europepmc   +1 more source

Editorial: Exploiting genetics and genomics to improve the understanding of eye diseases. [PDF]

Front Genet, 2023
Plotnikov D, Guggenheim JA, Gao XR.
europepmc   +1 more source

Narrative Genomics: Creating a Stage for Inquiry and Bioethics Education [PDF]

, 2020
Bush, Lynn Wein
core   +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

Consideration of inherited cancer risk on a continuum: An international and multidisciplinary perspective: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med
Pal T, Christopher J, Astiazaran-Symonds E, Foulkes WD, James P, Klugman S, Kurian A, Mak J, Monteiro A, Robson M, Tischkowitz M, Stewart DR, Hanson H, ACMG Professional Practice and Guidelines Committee. Electronic address: documents@acmg.net.   +13 more
europepmc   +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

Arimoclomol and levacetylleucine for the treatment of neurologic manifestations of Niemann-Pick disease type C: A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG). [PDF]

Genet Med Open
Rodriguez-Gil JL, Smith WE, Chang IJ, Mendelsohn BA, ACMG Therapeutics Committee5∗documents@acmg.net.   +4 more
europepmc   +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