Saiful Effendi Syafruddin

Saiful Effendi Syafruddin
Universiti Kebangsaan Malaysia | ukm · UKM Medical Molecular Biology Institute (UMBI)

PhD in Medical Sciences (University of Cambridge)

About

53
Publications
4,872
Reads
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306
Citations
Citations since 2016
49 Research Items
305 Citations
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2016201720182019202020212022020406080100120
2016201720182019202020212022020406080100120
2016201720182019202020212022020406080100120

Publications

Publications (53)
Article
Full-text available
Transcriptional networks are critical for the establishment of tissue-specific cellular states in health and disease, including cancer. Yet, the transcriptional circuits that control carcinogenesis remain poorly understood. Here we report that Kruppel like factor 6 (KLF6), a transcription factor of the zinc finger family, regulates lipid homeostasi...
Article
Full-text available
Metastases, the spread of cancer cells to distant organs, cause the majority of cancer-related deaths. Few metastasis-specific driver mutations have been identified, suggesting aberrant gene regulation as a source of metastatic traits. However, how metastatic gene expression programs arise is poorly understood. Here, using human-derived metastasis...
Article
Full-text available
Tissue-specific transcriptional programs control most biological phenotypes, including disease states such as cancer. However, the molecular details underlying transcriptional specificity is largely unknown, hindering the development of therapeutic approaches. Here, we describe novel experimental reporter systems that allow interrogation of the end...
Article
Full-text available
Dysregulated mitochondrial function is associated with the pathology of a wide range of diseases including renal disease and cancer. Thus, investigating regulators of mitochondrial function is of particular interest. Previous work has shown that the von Hippel-Lindau tumor suppressor protein (pVHL) regulates mitochondrial biogenesis and respiratory...
Article
Full-text available
Endometrioid endometrial cancer (EEC) is the commonest form of endometrial cancer and can be divided into estrogen receptor (ER) positive and negative subtypes. The mutational profiles of EEC have been shown to aid in tailoring treatment; however, little is known about the differences between the gene mutation profiles between these two subtypes. T...
Article
Full-text available
The endoplasmic reticulum (ER) is a multi-layered organelle that is essential for the synthesis, folding, and structural maturation of almost one-third of the cellular proteome. It houses several resident proteins for these functions including the 21 members of the protein disulfide isomerase (PDI) family. The signature of proteins belonging to thi...
Article
Full-text available
Large-scale human genetic data1–3 have shown that cancer mutations display strong tissue-selectivity, but how this selectivity arises remains unclear. Here, using experimental models, functional genomics and analyses of patient samples, we demonstrate that the lineage transcription factor paired box 8 (PAX8) is required for oncogenic signalling by...
Article
Full-text available
Breast cancer is the leading cause of cancer-related deaths in women. The aggressive breast cancer subtype is commonly linked to the genetic alterations in the TP53 tumor suppressor gene, predominantly the missense mutations. Robust experimental models are needed to gain better insights into these mutations’ molecular properties and implications in...
Article
Pathogenic infections have significant roles in the pathogenesis of colorectal cancer (CRC). These infections induce the secretion of various damage-associated molecular patterns (DAMPs) including interleukin-1 alpha (IL-1α) and high mobility group box-1 (HMGB1). Despite their implication in CRC pathogenesis, the mechanism(s) that modulate the secr...
Article
Full-text available
A short open reading frame (sORFs) constitutes ≤ 300 bases, encoding a microprotein or sORF-encoded protein (SEP) which comprises ≤ 100 amino acids. Traditionally dismissed by genome annotation pipelines as meaningless noise, sORFs were found to possess coding potential with ribosome profiling (RIBO-Seq), which unveiled sORF-based transcripts at va...
Article
Full-text available
The aims were to profile the DNA methylation in colorectal cancer (CRC) and to explore cancer-specific methylation biomarkers. Fifty-four pairs of CRCs and the adjacent normal tissues were subjected to Infinium Human Methylation 450K assay and analysed using ChAMP R package. A total of 26,093 differentially methylated probes were identified, which...
Article
Full-text available
CD44, a non-kinase cell surface transmembrane glycoprotein, has been widely implicated as a cancer stem cell (CSC) marker in several cancers. Cells overexpressing CD44 possess several CSC traits, such as self-renewal and epithelial-mesenchymal transition (EMT) capability, as well as a resistance to chemo- and radiotherapy. The CD44 gene regularly u...
Article
Full-text available
[This corrects the article DOI: 10.3389/fonc.2018.00388.].
Article
Full-text available
Background Glioblastoma multiforme (GBM) is a highly lethal, stage IV brain tumour with a prevalence of approximately 2 per 10,000 people globally. The cell surface proteins or surfaceome serve as information gateway in many oncogenic signalling pathways and are important in modulating cancer phenotypes. Dysregulation in surfaceome expression and a...
Article
Full-text available
Protein–protein interactions are fundamental to various aspects of cell biology with many protein complexes participating in numerous fundamental biological processes such as transcription, translation and cell cycle. MS-based proteomics techniques are routinely applied for characterising the interactome, such as affinity purification coupled to ma...
Article
Full-text available
Cells encounter a myriad of endogenous and exogenous stresses that could perturb cellular physiological processes. Therefore, cells are equipped with several adaptive and stress-response machinery to overcome and survive these insults. One such machinery is the heat shock response (HSR) program that is governed by the heat shock factors (HSFs) fami...
Article
Full-text available
Hereditary or developmental neurological disorders (HNDs or DNDs) affect the quality of life and contribute to the high mortality rates among neonates. Most HNDs are incurable, and the search for new and effective treatments is hampered by challenges peculiar to the human brain, which is guarded by the near-impervious blood-brain barrier. Clustered...
Article
Full-text available
The Krüppel-like factors (KLFs) family of proteins control several key biological processes that include proliferation, differentiation, metabolism, apoptosis and inflammation. Dysregulation of KLF functions have been shown to disrupt cellular homeostasis and contribute to disease development. KLF6 is a relevant example; a range of functional and e...
Article
Full-text available
Anterior gradient-2 (AGR2) protein mediates the formation, breakage and isomerization of disulphide bonds during protein maturation in the endoplasmic reticulum (ER) and contributes to the homoeostasis of the secretory pathway. AGR2 promotes tumour development and metastasis and its elevated expression is almost completely restricted to malignant t...
Preprint
Full-text available
Background Glioblastoma multiforme (GBM) is a highly lethal, stage IV brain tumor with a prevalence of approximately 2 per 10000 people globally. The cell surface proteins or surfaceome play significant roles in modulating cancer phenotypes and acting as information gateway in many oncogenic signaling pathways. Hence, surfaceome are attractive targ...
Preprint
Full-text available
Background: Glioblastoma multiforme (GBM) is a highly lethal, stage IV brain tumour with a prevalence of approximately 2 per 10000 people globally. The cell surface proteins or surfaceome serve as an information gateway in many oncogenic signalling pathways and are important in modulating cancer phenotypes. Dysregulation of surfaceome expression an...
Thesis
Clear cell renal cell carcinoma (ccRCC) is characterised by frequent inactivation of the VHL tumour suppressor gene and consequent accumulation of HIF2A that drives tumourigenesis. The current clinically-approved therapies for ccRCC are those targeting the angiogenesis and mTOR signalling pathways, however, the overall patients’ objective response...
Data
Ion AmpliseqTM comprehensive cancer panel.
Data
Mutations distribution across exon and functional domain of (a) PTEN, (b) ARID1A, (c) ERBB3, and (d) WHSC1. Any position with a mutation obtains a circle; the length of the line depends on the number of mutations detected at that codon. The gray bar represents the entire protein with the different amino acid positions (aa). The colored boxes are sp...
Data
WHSC1 mutant primer for site-directed mutagenesis.
Data
Somatic alterations among DNA repair gene in hypermutated patient sample.
Data
Somatic alteration of ER negative subtypes in endometrioid endometrial cancer-related genes.
Data
Somatic alterations of ER positive subtype in genes relevant to estrogen signaling pathway.
Data
Variant analysis and prioritization workflow. Summary of our variant evaluation process for identifying candidate mutations.
Data
Primer’s sequence used for Sanger validation.
Data
Somatic alterations of ER positive subtypes in endometrioid endometrial cancer-related genes.
Data
Somatic alteration identified as driver mutations by Cancer Genome Interpreter.
Data
Somatic alterations of ER negative subtype in genes relevant to estrogen signaling pathway.
Data
Recurrent mutation site of WHSC1 in different cancers.
Article
Metastases, the spread of cancer cells to distant organs, cause the majority of cancer-related deaths. Few metastasis-specific driver mutations have been identified, suggesting aberrant gene regulation as a source of metastatic traits. However, how metastatic gene expression programs arise is poorly understood. Here, using human-derived metastasis...
Article
Full-text available
Despite global progress in research, improved screening and refined treatment strategies, colorectal cancer (CRC) remains as the third most common malignancy. As each type of cancer is different and exhibits unique alteration patterns, identifying and characterizing gene alterations in CRC that may serve as biomarkers might help to improve diagnosi...
Article
Full-text available
Objective: Malaysia has a high and rising prevalence of type 2 diabetes (T2D). While environmental (non-genetic) risk factors for the disease are well established, the role of genetic variations and gene-environment interactions remain understudied in this population. This study aimed to estimate the relative contributions of environmental and gen...
Article
Full-text available
Serous epithelial ovarian cancer (SEOC) is a highly metastatic disease and its progression has been implicated with microRNAs. This study aimed to identify the differentially expressed microRNAs in Malaysian patients with SEOC and examine the microRNAs functional roles in SEOC cells. Twenty-two SEOC and twenty-two normal samples were subjected to m...
Article
Full-text available
To characterize the association with Type 2 diabetes of known Type 2 diabetes risk variants in people in Malaysia of Malay, Chinese and Indian ancestry who participated in the Malaysian Cohort project. Using the MetaboChip array, 1604 people of Malay ancestry (722 cases, 882 controls), 1654 of Chinese ancestry (819 cases, 835 controls) and 1728 of...
Article
Full-text available
High grade serous ovarian cancer is one of the poorly characterized malignancies. This study aimed to elucidate the mutational events in Malaysian patients with high grade serous ovarian cancer by performing targeted sequencing on 50 cancer hotspot genes. Nine high grade serous ovarian carcinoma samples and ten normal ovarian tissues were obtained...

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Projects

Projects (4)
Project
Development of precise genetically engineered cancer cell lines using the Prime Editing techniques for In-Vitro and In-vivo functional interrogations
Project
Identification and functional validation of the important cell surface proteins that support GBM pathogenesis. Also to unravel the underlying mechanisms that promote GBM cells growth and metastatic capabilities as well as the acquisition of therapeutic resistance.