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16+ results
Field: Wnt/β-catenin signaling in development and cancer

Genetic Variation in the 6p22.3 Gene DTNBP1, the Human Ortholog of the Mouse Dysbindin Gene, Is Associated with Schizophrenia

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Richard E. Straub, Yuxin Jiang, Charles J. MacLean, Yunlong Ma et al.

Journal: The American Journal of Human Genetics
Year: 2002
Citations: 837

Prior evidence has supported the existence of multiple susceptibility genes for schizophrenia. Multipoint linkage analysis of the 270 Irish high-density pedigrees that we have studied, as well as results from several other samples, suggest that at least one such gene is located in region 6p24-21. In...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
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Analysis of colorectal cancers in British Bangladeshi identifies early onset, frequent mucinous histotype and a high prevalence of RBFOX1 deletion

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Neel Sengupta, Christopher Yau, Anuratha Sakthianandeswaren, Dmitri Mouradov et al.

Journal: Molecular CancerYear: 2013Citations: 232

BACKGROUND: Prevalence of colorectal cancer (CRC) in the British Bangladeshi population (BAN) is low compared to British Caucasians (CAU). Genetic background may influence mutations and disease features. METHODS: We characterized the clinicopathological features of BAN CRCs and interrogated their ge...

Health SciencesMedicinePathology and Forensic MedicineOpen Access
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LATS tumor suppressor: A new governor of cellular homeostasis

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Stacy Visser, Xiaolong Yang

Journal: Cell CycleYear: 2010Citations: 200

Accumulating evidence points to the LATS (Large Tumor Suppressor) family of human tumor suppressors (LATS1 and LATS2) as new resident governors of cellular homeostasis. Loss of function of either LATS1 or LATS2 leads to a variety of tumor types including soft tissue sarcomas, leukemia, as well as br...

Life SciencesBiochemistry, Genetics and Molecular BiologyCell BiologyOpen Access
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Genome-Wide Study of Hypomethylated and Induced Genes in Patients with Liver Cancer Unravels Novel Anticancer Targets

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Barbara Stefañska, David Cheishvili, Matthew Suderman, Ani Arakelian et al.

Journal: Clinical Cancer ResearchYear: 2014Citations: 107

PURPOSE: We utilized whole-genome mapping of promoters that are activated by DNA hypomethylation in hepatocellular carcinoma (HCC) clinical samples to shortlist novel targets for anticancer therapeutics. We provide a proof of principle of this approach by testing six genes short-listed in our screen...

Life SciencesBiochemistry, Genetics and Molecular BiologyMolecular BiologyOpen Access
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No evidence for linkage or association of neuregulin-1 (NRG1) with disease in the Irish study of high-density schizophrenia families (ISHDSF)

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Dawn L. Thiselton, Bradley T. Webb, Benjamin M. Neale, R. Ribble et al.

Journal: Molecular PsychiatryYear: 2004Citations: 103

The neuregulin-1 gene (NRG1) at chromosome 8p21-22 has been implicated as a schizophrenia susceptibility gene in Icelandic, Scottish, Irish and mixed UK populations. The shared ancestry between these populations led us to investigate the NRG1 polymorphisms and appropriate marker haplotypes for linka...

Health SciencesMedicineOncology
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The <i>COL7A1</i> mutation database

Verified

Katarzyna Wertheim‐Tysarowska, Agnieszka Sobczyńska‐Tomaszewska, Cezary Kowaléwski, Michał Skroński et al.

Journal: Human MutationYear: 2011Citations: 68

Dystrophic Epidermolysis Bullosa (DEB) is a genetic disease caused by mutations in the COL7A1 gene that is inherited in the autosomal dominant or recessive mode. We have developed a curated, freely accessible COL7A1 specific database (http://www.col7.info), which contains more than 730 reported and ...

Life SciencesBiochemistry, Genetics and Molecular BiologyCell BiologyOpen Access
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Exploring the Role of PSEN Mutations in the Pathogenesis of Alzheimer’s Disease

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Md. Tanvir Kabir, Md. Sahab Uddin, Jinnat Ruksana Setu, Ghulam Md Ashraf et al.

Journal: Neurotoxicity ResearchYear: 2020Citations: 63

Alzheimer's disease (AD) is the most common cause of dementia. Mutations of presenilin (PSEN) genes that encode presenilin proteins have been found as the vital causal factors for early-onset familial AD (FAD). AD pathological features such as memory loss, synaptic dysfunction, and formation of plaq...

Health SciencesMedicinePhysiology
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Fine mapping the KLK3 locus on chromosome 19q13.33 associated with prostate cancer susceptibility and PSA levels

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Hemang Parikh, Zhaoming Wang, Kerry A. Pettigrew, Jinping Jia et al.

Journal: Human GeneticsYear: 2011Citations: 58

Measurements of serum prostate-specific antigen (PSA) protein levels form the basis for a widely used test to screen men for prostate cancer. Germline variants in the gene that encodes the PSA protein (KLK3) have been shown to be associated with both serum PSA levels and prostate cancer. Based on a ...

Life SciencesBiochemistry, Genetics and Molecular BiologyGeneticsOpen Access
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Clinical correlation of opposing molecular signatures in head and neck squamous cell carcinoma

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Fatima Qadir, Anand Lalli, Huma Habib Dar, Sungjae Hwang et al.

Journal: BMC CancerYear: 2019Citations: 49

BACKGROUND: The concept of head and neck cancers (HNSCC) having unique molecular signatures is well accepted but relating this to clinical presentation and disease behaviour is essential for patient benefit. Currently the clinical significance of HNSCC molecular subtypes is uncertain therefore perso...

Health SciencesMedicineOtorhinolaryngologyOpen Access
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Wnt/β-catenin signaling in the development and therapeutic resistance of non-small cell lung cancer

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Zixu Zhang, David Westover, Zhantong Tang, Yue Liu et al.

Journal: Journal of Translational MedicineYear: 2024Citations: 45

Wnt/β-catenin signaling is a critical pathway that influences development and therapeutic response of non-small cell lung cancer (NSCLC). In recent years, many Wnt regulators, including proteins, miRNAs, lncRNAs, and circRNAs, have been found to promote or inhibit signaling by acting on Wnt proteins...

Life SciencesBiochemistry, Genetics and Molecular BiologyMolecular BiologyOpen Access
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Vangl2 Regulates E-Cadherin in Epithelial Cells

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Tadahiro Nagaoka, Ayumu Inutsuka, Khadiza Begum, Khandakar musabbir bin hafiz et al.

Journal: Scientific ReportsYear: 2014Citations: 45

E-cadherin belongs to the classic cadherin subfamily of calcium-dependent cell adhesion molecules and is crucial for the formation and function of epithelial adherens junctions. In this study, we demonstrate that Vangl2, a vertebrate regulator of planar cell polarity (PCP), controls E-cadherin in ep...

Life SciencesBiochemistry, Genetics and Molecular BiologyMolecular BiologyOpen Access
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Tumor suppressor C-RASSF proteins

Verified

Hiroaki Iwasa, Shakhawoat Hossain, Yutaka Hata

Journal: Cellular and Molecular Life SciencesYear: 2018Citations: 44

Human genome has ten genes that are collectedly called Ras association domain family (RASSF). RASSF is composed of two subclasses, C-RASSF and N-RASSF. Both N-RASSF and C-RASSF encode Ras association domain-containing proteins and are frequently suppressed by DNA hypermethylation in human cancers. H...

Life SciencesBiochemistry, Genetics and Molecular BiologyCell BiologyOpen Access
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Antibody-drug conjugate T-DM1 treatment for HER2+ breast cancer induces ROR1 and confers resistance through activation of Hippo transcriptional coactivator YAP1

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Syed S. Islam, Mohammed Uddin, Abu Shadat Mohammod Noman, Hosneara Akter et al.

Journal: EBioMedicineYear: 2019Citations: 39

BACKGROUND: A newly developed drug trastuzumab emtansine (T-DM1) has improved the survival of breast cancer (BC) patients. Despite an impressive initial clinical response, a subgroup of patient develop resistance and present therapeutic challenges. The underlying resistance mechanisms are not fully ...

Life SciencesBiochemistry, Genetics and Molecular BiologyCell BiologyOpen Access
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Germline Variants in Asporin Vary by Race, Modulate the Tumor Microenvironment, and Are Differentially Associated with Metastatic Prostate Cancer

Verified

Paula J. Hurley, Debasish Sundi, Brian Shinder, Brian W. Simons et al.

Journal: Clinical Cancer ResearchYear: 2015Citations: 39

PURPOSE: Prostate cancers incite tremendous morbidity upon metastatic growth. We previously identified Asporin (ASPN) as a potential mediator of metastatic progression found within the tumor microenvironment. ASPN contains an aspartic acid (D)-repeat domain and germline polymorphisms in D-repeat-len...

Health SciencesMedicinePathology and Forensic MedicineOpen Access
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The purplish bifurcate mussel Mytilisepta virgata gene expression atlas reveals a remarkable tissue functional specialization

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Marco Gerdol, Yuki Fujii, Imtiaj Hasan, Toru Koike et al.

Journal: BMC GenomicsYear: 2017Citations: 38

BACKGROUND: Mytilisepta virgata is a marine mussel commonly found along the coasts of Japan. Although this species has been the subject of occasional studies concerning its ecological role, growth and reproduction, it has been so far almost completely neglected from a genetic and molecular point of ...

Physical SciencesEnvironmental ScienceGlobal and Planetary ChangeOpen Access
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