keyword
Keywords Cancer genomics, neuroscience,...

Cancer genomics, neuroscience, genetic testing

https://read.qxmd.com/read/38052102/genome-wide-association-study-meta-analysis-of-dizygotic-twinning-illuminates-genetic-regulation-of-female-fecundity
#1
JOURNAL ARTICLE
Hamdi Mbarek, Scott D Gordon, David L Duffy, Nikki Hubers, Sally Mortlock, Jeffrey J Beck, Jouke-Jan Hottenga, René Pool, Conor V Dolan, Ky'Era V Actkins, Zachary F Gerring, Jenny Van Dongen, Erik A Ehli, William G Iacono, Matt Mcgue, Daniel I Chasman, C Scott Gallagher, Samantha L P Schilit, Cynthia C Morton, Guillaume Paré, Gonneke Willemsen, David C Whiteman, Catherine M Olsen, Catherine Derom, Robert Vlietinck, Daniel Gudbjartsson, Lisa Cannon-Albright, Eva Krapohl, Robert Plomin, Patrik K E Magnusson, Nancy L Pedersen, Pirro Hysi, Massimo Mangino, Timothy D Spector, Teemu Palviainen, Yuri Milaneschi, Brenda W Penninnx, Adrian I Campos, Ken K Ong, John R B Perry, Cornelis B Lambalk, Jaakko Kaprio, Ísleifur Ólafsson, Karine Duroure, Céline Revenu, Miguel E Rentería, Loic Yengo, Lea Davis, Eske M Derks, Sarah E Medland, Hreinn Stefansson, Kari Stefansson, Filippo Del Bene, Bruno Reversade, Grant W Montgomery, Dorret I Boomsma, Nicholas G Martin
STUDY QUESTION: Which genetic factors regulate female propensity for giving birth to spontaneous dizygotic (DZ) twins? SUMMARY ANSWER: We identified four new loci, GNRH1, FSHR, ZFPM1, and IPO8, in addition to previously identified loci, FSHB and SMAD3. WHAT IS KNOWN ALREADY: The propensity to give birth to DZ twins runs in families. Earlier, we reported that FSHB and SMAD3 as associated with DZ twinning and female fertility measures. STUDY DESIGN, SIZE, DURATION: We conducted a genome-wide association meta-analysis (GWAMA) of mothers of spontaneous dizygotic (DZ) twins (8265 cases, 264 567 controls) and of independent DZ twin offspring (26 252 cases, 417 433 controls)...
December 5, 2023: Human Reproduction
https://read.qxmd.com/read/37599994/environmental-carcinogens-disproportionally-mutate-genes-implicated-in-neurodevelopmental-disorders
#2
JOURNAL ARTICLE
Brennan H Baker, Shaoyi Zhang, Jeremy M Simon, Sarah M McLarnan, Wendy K Chung, Brandon L Pearson
INTRODUCTION: De novo mutations contribute to a large proportion of sporadic psychiatric and developmental disorders, yet the potential role of environmental carcinogens as drivers of causal de novo mutations in neurodevelopmental disorders is poorly studied. METHODS: To explore environmental mutation vulnerability of disease-associated gene sets, we analyzed publicly available whole genome sequencing datasets of mutations in human induced pluripotent stem cell clonal lines exposed to 12 classes of environmental carcinogens, and human lung cancers from individuals living in highly polluted regions...
2023: Frontiers in Neuroscience
https://read.qxmd.com/read/37201524/crispr-for-neuroscientists
#3
REVIEW
Georgios Kalamakis, Randall J Platt
Genome engineering technologies provide an entry point into understanding and controlling the function of genetic elements in health and disease. The discovery and development of the microbial defense system CRISPR-Cas yielded a treasure trove of genome engineering technologies and revolutionized the biomedical sciences. Comprising diverse RNA-guided enzymes and effector proteins that evolved or were engineered to manipulate nucleic acids and cellular processes, the CRISPR toolbox provides precise control over biology...
May 7, 2023: Neuron
https://read.qxmd.com/read/36199963/pan-cancer-gene-analysis-of-m6a-modification-and-immune-infiltration-in-uterine-corpus-endometrial-carcinoma
#4
JOURNAL ARTICLE
Bing-Fan Xie, Yan Xia, Dan-Huan Lin, Bing Lian, Meng-Li Zhang, Lu Liu, Chun-Rong Qin
Objective: This investigation was to test the potential role of m6A-related long non-coding RNAs (lncRNAs) and immune infiltration as crucial factors in the diagnosis and treatment of uterine corpus endometrial cancer (UCEC). Method: The UCEC RNA-seq data were downloaded in the Cancer Genome Atlas (TCGA, https://portal.gdc.cancer.gov/). There were 587 samples totally, containing 543 UCEC cases and 35 healthy cases. The clinical information of UCEC cases included survival time, survival status, gender, age, stage, and TMN stage...
2022: Computational Intelligence and Neuroscience
https://read.qxmd.com/read/36172325/detection-of-breast-cancer-lump-and-brca1-2-genetic-mutation-under-deep-learning
#5
JOURNAL ARTICLE
Yue Miao, Siyuan Tang
To diagnose and cure breast cancer early, thus reducing the mortality of patients with breast cancer, a method was provided to judge threshold of image segmentation by wavelet transform (WT). It was used to obtain information about the general area of breast lumps by making a rough segmentation of the suspected area of the lump on mammogram. The boundary signal of the lump was obtained by region growth calculation or contour model of local activity. Meanwhile, multiplex polymerase chain reaction (mPCR) and mPCR-next-generation sequencing (mPCR-NGS) were used to detect BRCA1/2 genome...
2022: Computational Intelligence and Neuroscience
https://read.qxmd.com/read/34720862/white-matter-integrity-and-nicotine-dependence-evaluating-vertical-and-horizontal-pleiotropy
#6
JOURNAL ARTICLE
Zhenyao Ye, Chen Mo, Song Liu, Kathryn S Hatch, Si Gao, Yizhou Ma, L Elliot Hong, Paul M Thompson, Neda Jahanshad, Ashley Acheson, Hugh Garavan, Li Shen, Thomas E Nichols, Peter Kochunov, Shuo Chen, Tianzhou Ma
Tobacco smoking is an addictive behavior that supports nicotine dependence and is an independent risk factor for cancer and other illnesses. Its neurogenetic mechanisms are not fully understood but may act through alterations in the cerebral white matter (WM). We hypothesized that the vertical pleiotropic pathways, where genetic variants influence a trait that in turn influences another trait, link genetic factors, integrity of cerebral WM, and nicotine addiction. We tested this hypothesis using individual genetic factors, WM integrity measured by fractional anisotropy (FA), and nicotine dependence-related smoking phenotypes, including smoking status (SS) and cigarettes per day (CPDs), in a large epidemiological sample collected by the UK Biobank...
2021: Frontiers in Neuroscience
https://read.qxmd.com/read/34381231/exploring-tissue-architecture-using-spatial-transcriptomics
#7
REVIEW
Anjali Rao, Dalia Barkley, Gustavo S França, Itai Yanai
Deciphering the principles and mechanisms by which gene activity orchestrates complex cellular arrangements in multicellular organisms has far-reaching implications for research in the life sciences. Recent technological advances in next-generation sequencing- and imaging-based approaches have established the power of spatial transcriptomics to measure expression levels of all or most genes systematically throughout tissue space, and have been adopted to generate biological insights in neuroscience, development and plant biology as well as to investigate a range of disease contexts, including cancer...
August 2021: Nature
https://read.qxmd.com/read/21316923/schizophrenia-just-the-facts-6-moving-ahead-with-the-schizophrenia-concept-from-the-elephant-to-the-mouse
#8
REVIEW
Matcheri S Keshavan, Henry A Nasrallah, Rajiv Tandon
The current construct of schizophrenia as a unitary disease is far from satisfactory, and is in need of reconceptualization. The first five papers in our "facts" series reviewed what is known about schizophrenia to date, and a limited number of key facts appear to stand out. Schizophrenia is characterized by persistent cognitive deficits, positive and negative symptoms typically beginning in youth, substantive heritability, and brain structural, functional and neurochemical alterations including dopaminergic dysregulation...
April 2011: Schizophrenia Research
https://read.qxmd.com/read/16061934/characterization-of-zebrafish-rad52-and-replication-protein-a-for-oligonucleotide-mediated-mutagenesis
#9
JOURNAL ARTICLE
Nobuhiro Takahashi, Igor B Dawid
Zebrafish has become a favorite model organism not only in genetics and developmental biology, but also for the study of cancer, neuroscience and metabolism. However, strategies for reverse genetics in zebrafish are mostly limited to the use of antisense oligonucleotides, and therefore the development of other targeting methods is highly desirable. Here, we report an approach to gene targeting in this system in which single-stranded oligonucleotides and zebrafish Rad52 protein are employed. It has been proposed that a single-stranded oligonucleotide containing a mutation can be incorporated into the genome by annealing to the single-stranded region of the lagging strand of the replication fork...
August 1, 2005: Nucleic Acids Research
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