Selective immunoglobulin A deficiency (SIgAD) primarily leads to recurrent infections and autoimmune diseases: A retrospective study of Chinese patients in the past 40 years
Publication date: Available online 30 October 2019Source: Genes & DiseasesAuthor(s): Wei Wang, Tianhao Yao, Tianyi Zhang, Meiying Quan, Changyan Wang, Chen Wang, Lejia Zhang, Xiaoyan Tang, Shan Jian, Hongmei SongAbstractSelective immunoglobulin A deficiency (SIgAD) is considered to be the most common human primary immune-deficiency disease in the world. However, the incidence in China is obviously lower than Caucasian races. The definitionof SIgAD has changed over time with the progress of people's understanding. The scientific community did not reach a consensus on the definition until 1999. As a result, many previously r...
Source: Genes and Diseases - November 1, 2019 Category: Genetics & Stem Cells Source Type: research
Molecular subtypes of colorectal cancer: an emerging therapeutic opportunity for personalized medicine
Publication date: Available online 30 October 2019Source: Genes & DiseasesAuthor(s): Manish Pratap Singh, Sandhya Rai, Ashutosh Pandey, Nand K. Singh, Sameer SrivastavaAbstractMolecular subtypes-based therapies offer new potential framework for desired and precise outcome in clinical settings. Current treatment strategies in colorectal cancer is largely ‘one drug fit all’ model for patients that display same pathological conditions. However, CRC is a very heterogenous set of malignancy that does not support for above criteria. Each subtype displays different pathological and genetic signatures. Based on these features,...
Source: Genes and Diseases - November 1, 2019 Category: Genetics & Stem Cells Source Type: research
Moving into a new era — SCIE coverage is the next rung on the ladder for Genes & Diseases
Publication date: Available online 28 October 2019Source: Genes & DiseasesAuthor(s): T.-C. He, the Editorial Board (Source: Genes and Diseases)
Source: Genes and Diseases - October 29, 2019 Category: Genetics & Stem Cells Source Type: research
Integrated Chromatin and Transcriptomic Profiling of Patient-Derived Colon Cancer Organoids Identifies Personalized Drug Targets to Overcome Oxaliplatin Resistance
Publication date: Available online 29 October 2019Source: Genes & DiseasesAuthor(s): Kuei-Ling Tung, Kai-Yuan Chen, Marcos Negrete, Tianyi Chen, Alexias Safi, Abed Alhalim Aljamal, Lingyun Song, Gregory E. Crawford, Shengli Ding, David S. Hsu, Xiling ShenAbstractColorectal cancer is a leading cause of cancer deaths. Most colorectal cancer patients eventually develop chemoresistance to the current standard-of-care therapies. Here, we used patient-derived colorectal cancer organoids to demonstrate that resistant tumor cells undergo significant chromatin changes in response to oxaliplatin treatment. Integrated transcriptomic ...
Source: Genes and Diseases - October 29, 2019 Category: Genetics & Stem Cells Source Type: research
Alternative polyadenylation of mRNA and its role in cancer
Publication date: Available online 25 October 2019Source: Genes & DiseasesAuthor(s): Fuwen Yuan, William Hankey, Eric J. Wagner, Wei Li, Qianben WangAbstractAlternative polyadenylation (APA) is a molecular process that generates diversity at the 3’ end of RNA polymerase II transcripts from over 60% of human genes. APA is derived from the existence of multiple polyadenylation signals (PAS) within the same transcript, and results in the differential inclusion of sequence information at the 3’ end. While APA can occur between two PASs allowing for generation of transcripts with distinct coding potential from a single gene...
Source: Genes and Diseases - October 26, 2019 Category: Genetics & Stem Cells Source Type: research
Metabolic reprogramming in tumors: contributions of the tumor microenvironment
Publication date: Available online 23 October 2019Source: Genes & DiseasesAuthor(s): Andrew N. Lane, Richard M. Higashi, Teresa W-M. FanAbstractThe genetic alterations associated with cell transformation are in large measure expressed in the metabolic phenotype as cancer cells proliferate and change their local environment, and prepare for metastasis. Qualitatively, the fundamental biochemistry of cancer cells is generally the same as in the untransformed cells, but the cancer cells produce a local environment, the TME, that is hostile to the stromal cells, and compete for nutrients. In order to proliferate, cells need suf...
Source: Genes and Diseases - October 23, 2019 Category: Genetics & Stem Cells Source Type: research
Highly expressed BMP9/GDF2 in postnatal mouse liver and lungs may account for its pleiotropic effects on stem cell differentiation, angiogenesis, tumor growth and metabolism
Publication date: Available online 14 September 2019Source: Genes & DiseasesAuthor(s): Wei Liu, Zhongliang Deng, Zongyue Zeng, Jiaming Fan, Yixiao Feng, Xi Wang, Daigui Cao, Bo Zhang, Lijuan Yang, Bin Liu, Mikhail Pakvasa, William Wagstaff, Xiaoxing Wu, Huaxiu Luo, Jing Zhang, Meng Zhang, Fang He, Yukun Mao, Huiming Ding, Yongtao ZhangAbstractBone morphogenetic protein 9 (BMP9) (or GDF2) was originally identified from fetal mouse liver cDNA libraries. Emerging evidence indicates BMP9 exerts diverse and pleiotropic functions during postnatal development and in maintaining tissue homeostasis. However, the expression landscap...
Source: Genes and Diseases - October 22, 2019 Category: Genetics & Stem Cells Source Type: research
Clinical phenotype of a Chinese patient with RIPK1 deficiency due to novel mutation
Publication date: Available online 21 October 2019Source: Genes & DiseasesAuthor(s): Jinqiao Sun, Xiaochuan WangAbstractAccumulating evidence indicates that RIPK1 is associated with inflammation and apoptotic. RIPK1 deficiency leads to proinflammatory signaling impaired. However, only few patients with homozygous loss-of-function mutation in RIPK1 gene had been reported until now. Here, we report a Chinese combined immunodeficiency patient. He had recurrent infection, diarrhea after 3 months old. Immune function indicated that T, B and NK cells decreased significantly but immunoglobulins approximately remained normal. Whol...
Source: Genes and Diseases - October 22, 2019 Category: Genetics & Stem Cells Source Type: research
CNTs mediated CD44 targeting; a Paradigm shift in drug delivery for breast cancer
Publication date: Available online 21 October 2019Source: Genes & DiseasesAuthor(s): Nidhi Jain SinghaiAbstractThe breast cancer is one of the most common cancer affecting millions of lives worldwide. Though the prevalence of breast cancer is worldwide; however, the developing nations are having a comparatively higher percentage of breast cancer cases and associated complications. The molecular etiology behind breast cancer is complex and involves several regulatory molecules and their downstream signaling. Studies have demonstrated that the CD44 remains one of the major molecule associated not only in breast cancer but al...
Source: Genes and Diseases - October 22, 2019 Category: Genetics & Stem Cells Source Type: research
Distinct Transcriptomic Landscapes of Cutaneous Basal Cell Carcinomas and Squamous Cell Carcinomas
In this report, we analyzed gene expression profiles of paired specimens of keratinocyte carcinomas with their matched normal skin tissues as the control. Among several novel findings, we discovered a significant number of zinc finger encoding genes up-regulated in human BCC. In BCC, a novel link was found between hedgehog signaling, Wnt signaling, and the cilium. While the SCC cancer-stem-cell gene signature is shared between human and mouse SCCs, the hair follicle stem-cell signature of mice was not highly represented in human SCC. Differential gene expression (DEG) in human BCC shares gene signature with both bulge and ...
Source: Genes and Diseases - October 20, 2019 Category: Genetics & Stem Cells Source Type: research
Oncometabolite modification of Keap1 links GSTZ1 deficiency with cancer
Publication date: Available online 19 October 2019Source: Genes & DiseasesAuthor(s): Weijie Guo, Binhua P. ZhouAbstractMetabolic abnormalities are emerging as an active driver to the development, progression and metastasis of various tumors. In the recent issue of the EMBO Journal, Yang and colleagues identified that succinylacetone (SA) could act as an oncometabolite and that accumulation of SA activates the NRF2/IGF1R axis in hepatocellular carcinoma (HCC) development. These discoveries not only yield great insights in the understanding of tumor biology, but also hold significant clinical ramifications, as these findings...
Source: Genes and Diseases - October 20, 2019 Category: Genetics & Stem Cells Source Type: research
Oxygen sensing and adaptability won the 2019 Nobel Prize in Physiology or Medicine
Publication date: Available online 19 October 2019Source: Genes & DiseasesAuthor(s): Qing Zhang, Qin Yan, Haifeng Yang, Wenyi WeiAbstractThe 2019 Nobel Prize in Physiology or Medicine was awarded to three physician scientists, Drs. William G. Kaelin, Jr., Peter Ratcliffe and Gregg Semenza, for their groundbreaking work revealing how cells sense and adapt to oxygen availability. Here, we summarize the history of their discoveries. (Source: Genes and Diseases)
Source: Genes and Diseases - October 20, 2019 Category: Genetics & Stem Cells Source Type: research
The dark face of fructose as a tumor promoter
Publication date: Available online 16 October 2019Source: Genes & DiseasesAuthor(s): Prasanna K. SanthekadurAbstractFructose, an essential biomolecule is a major ingredient of the modern diet across the globe. Excess consumption of fructose may be a key driver of many serious diseases such as obesity, heart diseases, type 2 diabetes and cancer. Understanding the metabolism of fructose, molecular mechanisms of its toxic nature will aid in the treatment of various diseases including cancer. (Source: Genes and Diseases)
Source: Genes and Diseases - October 17, 2019 Category: Genetics & Stem Cells Source Type: research
A updated review on Activated PI3 kinase delta syndrome (APDS)
Publication date: Available online 14 October 2019Source: Genes & DiseasesAuthor(s): Ankita Singh, Vibhu Joshi, Ankur Kumar Jindal, Babu Mathew, Amit RawatAbstractActivated Phosphoinositide 3-kinase δ syndrome (APDS) is a newly recognised primary immunodeficiency disease. It has been currently a hot topic of clinical research and new data are emerging regarding its pathogenesis, clinical manifestations and treatment. Patients with APDS syndrome have significant autoimmune manifestations and lymphoproliferation. It is important to differentiate APDS from the usual polygenic CVID in view of the availability of targeted ther...
Source: Genes and Diseases - October 15, 2019 Category: Genetics & Stem Cells Source Type: research
Recent advances in elucidating the genetics of Common Variable Immunodeficiency
Publication date: Available online 15 October 2019Source: Genes & DiseasesAuthor(s): Vaishali Aggarwal, Aaqib Zaffar Banday, Ankur Kumar Jindal, Jhumki Das, Amit RawatAbstractCommon variable immunodeficiency disorders (CVID), a heterogeneous group of inborn errors of immunity, is the most common symptomatic primary immunodeficiency disorder. Patients with CVID have highly variable clinical presentation. With the advent of whole genome sequencing and genome wide association studies (GWAS), there has been a remarkable improvement in understanding the genetics of CVID. This has also helped in understanding the pathogenesis of...
Source: Genes and Diseases - October 15, 2019 Category: Genetics & Stem Cells Source Type: research
