User profiles for "author:Natalie A Twine"

Natalie A Twine

Research Scientist at CSIRO, eHealth, Transformational Bioinformatics
Verified email at csiro.au
Cited by 2335

[HTML][HTML] Whole transcriptome sequencing reveals gene expression and splicing differences in brain regions affected by Alzheimer's disease

NA Twine, K Janitz, MR Wilkins, M Janitz - PloS one, 2011 - journals.plos.org
Recent studies strongly indicate that aberrations in the control of gene expression might
contribute to the initiation and progression of Alzheimer's disease (AD). In particular …

Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes

A Mohamedali, J Gäken, NA Twine… - Blood, The Journal …, 2007 - ashpublications.org
Low-risk myelodysplastic syndrome (MDS) with normal cytogenetics accounts for
approximately 50% of MDS patients. There are no pathognomonic markers in these cases …

[HTML][HTML] A metabolic associated fatty liver disease risk variant in MBOAT7 regulates toll like receptor induced outcomes

J Alharthi, A Bayoumi, K Thabet, Z Pan… - Nature …, 2022 - nature.com
The breakdown of toll-like receptor (TLR) tolerance results in tissue damage, and
hyperactivation of the TLRs and subsequent inflammatory consequences have been …

Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis

EP McCann, L Henden, JA Fifita, KY Zhang… - Journal of medical …, 2021 - jmg.bmj.com
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with
phenotypic and genetic heterogeneity. Approximately 10% of cases are familial, while …

[HTML][HTML] Inhibitors of poly ADP-ribose polymerase (PARP) induce apoptosis of myeloid leukemic cells: potential for therapy of myeloid leukemia and myelodysplastic …

TJ Gaymes, S Shall, LJ MacPherson, NA Twine… - …, 2009 - ncbi.nlm.nih.gov
Background Aberrant or impaired repair of double-strand DNA breaks is a common feature
of de novo acute myeloid leukemia and myelodysplastic syndromes. Since poly (ADP …

Identification of differentiation-stage specific markers that define the ex vivo osteoblastic phenotype

NA Twine, L Chen, CN Pang, MR Wilkins, M Kassem - Bone, 2014 - Elsevier
The phenotype of osteoblastic (OB) cells in culture is currently defined using a limited
number of markers of low sensitivity and specificity. For the clinical use of human skeletal …

[HTML][HTML] Novel Alzheimer's disease genes and epistasis identified using machine learning GWAS platform

M Lundberg, LMF Sng, P Szul, R Dunne, A Bayat… - Scientific Reports, 2023 - nature.com
Alzheimer's disease (AD) is a complex genetic disease, and variants identified through
genome-wide association studies (GWAS) explain only part of its heritability. Epistasis has …

[HTML][HTML] Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression

IS Tarr, EP McCann, B Benyamin, TJ Peters… - Scientific reports, 2019 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by
the loss of upper and lower motor neurons. ALS exhibits high phenotypic variability …

[HTML][HTML] Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

L Henden, NA Twine, P Szul, EP McCann… - NPJ genomic …, 2020 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the
loss of upper and lower motor neurons resulting in paralysis and eventual death …

The CACCC-binding protein KLF3/BKLF represses a subset of KLF1/EKLF target genes and is required for proper erythroid maturation in vivo

APW Funnell, LJ Norton, KS Mak… - … and cellular biology, 2012 - Am Soc Microbiol
The CACCC-box binding protein erythroid Krüppel-like factor (EKLF/KLF1) is a master
regulator that directs the expression of many important erythroid genes. We have previously …