User profiles for "author:Natalie A Twine"
Natalie A TwineResearch 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
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 …
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 …
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 …
hyperactivation of the TLRs and subsequent inflammatory consequences have been …
Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with
phenotypic and genetic heterogeneity. Approximately 10% of cases are familial, while …
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 …
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
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 …
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 …
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
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterised by
the loss of upper and lower motor neurons. ALS exhibits high phenotypic variability …
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
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the
loss of upper and lower motor neurons resulting in paralysis and eventual death …
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 …
regulator that directs the expression of many important erythroid genes. We have previously …