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Medical Genetics, Human Genetics, Cancers

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https://www.readbyqxmd.com/read/29770205/beginning-at-the-ends-telomeres-and-human-disease
#1
REVIEW
Sharon A Savage
Studies of rare and common illnesses have led to remarkable progress in the understanding of the role of telomeres (nucleoprotein complexes at chromosome ends essential for chromosomal integrity) in human disease. Telomere biology disorders encompass a growing spectrum of conditions caused by rare pathogenic germline variants in genes encoding essential aspects of telomere function. Dyskeratosis congenita, a disorder at the severe end of this spectrum, typically presents in childhood with the classic triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia, accompanied by a very high risk of bone marrow failure, cancer, pulmonary fibrosis, and other medical problems...
2018: F1000Research
https://www.readbyqxmd.com/read/29764369/vareporter-variant-reporter-for-cancer-research-of-massive-parallel-sequencing
#2
Po-Jung Huang, Chi-Ching Lee, Ling-Ya Chiu, Kuo-Yang Huang, Yuan-Ming Yeh, Chia-Yu Yang, Cheng-Hsun Chiu, Petrus Tang
BACKGROUND: High throughput sequencing technologies have been an increasingly critical aspect of precision medicine owing to a better identification of disease targets, which contributes to improved health care cost and clinical outcomes. In particular, disease-oriented targeted enrichment sequencing is becoming a widely-accepted application for diagnostic purposes, which can interrogate known diagnostic variants as well as identify novel biomarkers from panels of entire human coding exome or disease-associated genes...
May 9, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29732484/crispr-cas9-the-powerful-new-genome-editing-tool-for-putative-therapeutics-in-obesity
#3
REVIEW
María José Franco-Tormo, Mireille Salas-Crisostomo, Nuno Barbosa Rocha, Henning Budde, Sérgio Machado, Eric Murillo-Rodríguez
The molecular technology known as clustered regularly interspaced palindromic repeats (CRISPR)/CRISPR-associated protein (Cas) is revolutionizing the field of medical research and deepening our understanding of numerous biological processes. The attraction of CRISPR/Cas9 lies in its ability to efficiently edit DNA or modulate gene expression in living eukaryotic cells and organisms, a technology that was once considered either too expensive or scientifically risky. CRISPR/Cas9 has been successfully applied in agriculture to develop the next generation of disease-resistant plants...
May 7, 2018: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/29729943/phenotype-penetrance-and-treatment-of-133-ctla-4-insufficient-individuals
#4
Charlotte Schwab, Annemarie Gabrysch, Peter Olbrich, Virginia Patiño, Klaus Warnatz, Daniel Wolff, Akihiro Hoshino, Masao Kobayashi, Kohsuke Imai, Masatoshi Takagi, Ingunn Dybedal, Jamanda A Haddock, David Sansom, Jose M Lucena, Maximilian Seidl, Annette Schmitt-Gräff, Veronika Reiser, Florian Emmerich, Natalie Frede, Alla Bulashevska, Ulrich Salzer, Desirée Schubert, Seiichi Hayakawa, Satoshi Okada, Maria Kanariou, Zeynep Yesim Kucuk, Hugo Chapdelaine, Lenka Petruzelkova, Zdenek Sumnik, Anna Sediva, Mary Slatter, Peter D Arkwright, Andrew Cant, Hanns-Martin Lorenz, Thomas Giese, Vassilios Lougaris, Alessandro Plebani, Christina Price, Kathleen E Sullivan, Michel Moutschen, Jiri Litzman, Tomas Freiberger, Frank L van de Veerdonk, Mike Recher, Michael H Albert, Fabian Hauck, Suranjith Seneviratne, Jana Pachlopnik Schmid, Antonios Kolios, Gary Unglik, Christian Klemann, Carsten Speckmann, Stephan Ehl, Alan Leichtner, Richard Blumberg, Andre Franke, Scott Snapper, Sebastian Zeissig, Charlotte Cunningham-Rundles, Lisa Giulino-Roth, Olivier Elemento, Gregor Dückers, Tim Niehues, Eva Fronkova, Veronika Kanderová, Craig D Platt, Janet Chou, Talal Chatila, Raif Geha, Elizabeth McDermott, Su Bunn, Monika Kurzai, Ansgar Schulz, Laia Alsina, Ferran Casals, Angela Deyà-Martinez, Sophie Hambleton, Hirokazu Kanegane, Kjetil Taskén, Olaf Neth, Bodo Grimbacher
BACKGROUND: Cytotoxic-T-lymphocyte-antigen-4 (CTLA-4) is a negative immune regulator. Heterozygous CTLA4 germline mutations can cause a complex immune dysregulation syndrome in humans. OBJECTIVE: To characterize the penetrance, the clinical features and the best treatment options in 133 CTLA4 mutation carriers. METHODS: Genetics, clinical features, laboratory values, and outcome of treatment options were assessed in a worldwide cohort of CTLA4 mutation carriers...
May 3, 2018: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29618007/subphenotype-meta-analysis-of-testicular-cancer-genome-wide-association-study-data-suggests-a-role-for-rbfox-family-genes-in-cryptorchidism-susceptibility
#5
Yanping Wang, Dione R Gray, Alan K Robbins, Erin L Crowgey, Stephen J Chanock, Mark H Greene, Katherine A McGlynn, Katherine Nathanson, Clare Turnbull, Zhaoming Wang, Marcella Devoto, Julia Spencer Barthold
STUDY QUESTION: Can subphenotype analysis of genome-wide association study (GWAS) data from subjects with testicular germ cell tumor (TGCT) provide insight into cryptorchidism (undescended testis, UDT) susceptibility? SUMMARY ANSWER: Suggestive intragenic GWAS signals common to UDT, TGCT case-case and TGCT case-control analyses occur in genes encoding RBFOX RNA-binding proteins (RBPs) and their neurodevelopmental targets. WHAT IS KNOWN ALREADY: UDT is a strong risk factor for TGCT, but while genetic risk factors for TGCT are well-known, genetic susceptibility to UDT is poorly understood and appears to be more complex...
March 29, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29605047/biological-origins-of-sexual-orientation-and-gender-identity-impact-on-health
#6
REVIEW
Katherine A O'Hanlan, Jennifer C Gordon, Mackenzie W Sullivan
Gynecologic Oncologists are sometimes consulted to care for patients who present with diverse gender identities or sexual orientations. Clinicians can create more helpful relationships with their patients if they understand the etiologies of these diverse expressions of sexual humanity. Multidisciplinary evidence reveals that a sexually dimorphic spectrum of somatic and neurologic anatomy, traits and abilities, including sexual orientation and gender identity, are conferred together during the first half of pregnancy due to genetics, epigenetics and the diversity of timing and function of sex chromosomes, sex-determining protein secretion, gonadal hormone secretion, receptor levels, adrenal function, maternally ingested dietary hormones, fetal health, and many other factors...
April 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29592810/crispr-cas9-the-jedi-against-the-dark-empire-of-diseases
#7
REVIEW
Sehrish Khan, Muhammad Shahid Mahmood, Sajjad Ur Rahman, Hassan Zafar, Sultan Habibullah, Zulqarnain Khan, Aftab Ahmad
Advances in Clustered Regularly Interspaced Short Palindromic Repeats/CRISPR associated system (CRISPR/Cas9) has dramatically reshaped our ability to edit genomes. The scientific community is using CRISPR/Cas9 for various biotechnological and medical purposes. One of its most important uses is developing potential therapeutic strategies against diseases. CRISPR/Cas9 based approaches have been increasingly applied to the treatment of human diseases like cancer, genetic, immunological and neurological disorders and viral diseases...
March 28, 2018: Journal of Biomedical Science
https://www.readbyqxmd.com/read/29579788/risk-factors-for-gastric-cancer-a-systematic-review
#8
REVIEW
Ali Reza Yusefi, Kamran Bagheri Lankarani, Peivand Bastani, Maryam Radinmanesh, Zahra Kavosi
Objective: Gastric cancer is one of the leading causes of death worldwide, with many influences contributing to the disease. The aim of this study was to identify the most important risk factors. Methods: This study was conducted in 2017 with a structured overview in the Science Directe, Scopus, PubMed, Cochrane, Web of Science (ISI) databases. In the first step, articles were extracted based on their titles and abstracts; the quality of 43 articles was evaluated using the STORBE tool. Inclusion criteria were studies carried out on human, English language (first step), year of the study and the study type (second step)...
March 27, 2018: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/29575114/american-council-on-ecp-ace-why-now
#9
Richard Edelson, Yanyun Wu, Jennifer Schneiderman
Stimulated by the scientific progress in deciphering the principal elements contributing to the clinical efficacy of extracorporeal photochemotherapy (ECP), the American Council on ECP (ACE) was formed, under the auspices of the American Society for Apheresis (ASFA), to develop a field-guiding Consensus Report. ACE is composed of thirty nationally recognized ECP experts, clinically spanning cancer, transplantation, and autoimmunity and scientifically bridging immunology, bioengineering, and hematology. The two-day meeting took place in Manhattan, April 13-14, 2017, and unanimous consensus on nine pivotal points is herein reported...
March 25, 2018: Journal of Clinical Apheresis
https://www.readbyqxmd.com/read/29567881/expression-of-breast-cancer-type-1-and-its-relation-with-expression-of-estrogen-receptors-progesterone-receptors-and-human-epidermal-growth-factor-receptor-2-neu-in-breast-carcinoma-on-trucut-biopsy-specimens
#10
Deepti Verma, Kiran Agarwal, Sanjeev Kumar Tudu
Objective: (1) The objective is to study the immunohistochemical expression of Breast cancer type 1 (BRCA1) in breast carcinoma on trucut biopsy specimens and (2) To relate its expression with that of estrogen receptors (ER), progesterone receptors (PR), and human epidermal growth factor receptor 2 (HER-2)/neu and the clinicopathological parameters. Settings and Design: A cross-sectional hospital-based study was performed in Lady Hardinge Medical College and Shrimati Sucheta Kriplani Hospital, New Delhi, with collaboration of the Departments of Pathology and Surgery from the period of November 2008 to March 2010...
January 2018: Indian Journal of Pathology & Microbiology
https://www.readbyqxmd.com/read/29556970/concepts-utility-and-limitations-of-cord-blood-banking-what-clinicians-need-to-know
#11
Dhanya Lakshmi Narayanan, Shubha R Phadke
Stem cell transplantation and cord blood banking have received much popularity among general public and medical professionals in the recent past. But information about the scientific aspects, its utility and limitations is incomplete amongst laypersons as well as many medical practitioners. Stem cells differ from all other types of cells in the human body because of their ability to multiply in order to self perpetuate and differentiate into specialized cells. Stems cells could be totipotent, multipotent, pluripotent, oligopotent or unipotent depending on the type of cells that can arise or differentiate from them...
March 20, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29478615/neurofibromatosis-type-1
#12
Patrick J Cimino, David H Gutmann
The neurofibromatoses are a group of three heterogeneous disorders that include neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. NF1 is the most common of these three conditions, and represents one of the most frequently diagnosed cancer predisposition disorders involving the nervous system. While NF1 primarily affects the central and peripheral nervous system, multisystem involvement is the rule, with dermatologic, cardiovascular, gastrointestinal, and orthopedic affectation often reported...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29475968/mirna-processing-gene-methylation-and-cancer-risk
#13
Brian T Joyce, Yinan Zheng, Zhou Zhang, Lei Liu, Masha Kocherginsky, Robert Murphy, Chad J Achenbach, Jonah Musa, Firas Wehbe, Allan Just, Jincheng Shen, Pantel Vokonas, Joel Schwartz, Andrea A Baccarelli, Lifang Hou
Background: Dysregulation of miRNA and methylation levels are epigenetic hallmarks of cancer, potentially linked via miRNA-processing genes. Studies have found genetic alterations to miRNA-processing genes in cancer cells and human population studies. Our objective was to prospectively examine changes in DNA methylation of miRNA-processing genes and their associations with cancer risk. Methods: We examined cohort data from the Department of Veterans' Affairs Normative Aging Study. Participants were assessed every 3 to 5 years starting in 1999 through 2013 including questionnaires, medical record review, and blood collection...
May 2018: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/29461977/mosaic-ras-mapk-variants-cause-sporadic-vascular-malformations-which-respond-to-targeted-therapy
#14
Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, Katrina A Andrews, Paulina Stadnik, Agnel P Joseph, Rachel Knox, Alan Pittman, Graeme Clark, William Baird, Neil Bulstrode, Mary Glover, Kristiana Gordon, Darren Hargrave, Susan M Huson, Thomas S Jacques, Gregory James, Hannah Kondolf, Loshan Kangesu, Kim M Keppler-Noreuil, Amjad Khan, Marjorie J Lindhurst, Mark Lipson, Sahar Mansour, Justine O'Hara, Caroline Mahon, Anda Mosica, Celia Moss, Aditi Murthy, Juling Ong, Victoria E Parker, Jean-Baptiste Rivière, Julie C Sapp, Neil J Sebire, Rahul Shah, Branavan Sivakumar, Anna Thomas, Alex Virasami, Regula Waelchli, Zhiqiang Zeng, Leslie G Biesecker, Alex Barnacle, Maya Topf, Robert K Semple, E Elizabeth Patton, Veronica A Kinsler
BACKGROUND: Sporadic vascular malformations (VMs) are complex congenital anomalies of blood vessels that lead to stroke, life-threatening bleeds, disfigurement, overgrowth, and/or pain. Therapeutic options are severely limited, and multidisciplinary management remains challenging, particularly for high-flow arteriovenous malformations (AVM). METHODS: To investigate the pathogenesis of sporadic intracranial and extracranial VMs in 160 children in which known genetic causes had been excluded, we sequenced DNA from affected tissue and optimized analysis for detection of low mutant allele frequency...
April 2, 2018: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/29456740/an-obligatory-anaerobic-salmonella-typhimurium-strain-redirects-m2-macrophages-to-the-m1-phenotype
#15
Mei Yang, Juan Xu, Qi Wang, An-Qin Zhang, Kun Wang
A genetically engineered Salmonella typhimurium strain that may be applied in the medically useful therapeutic strategy of using bacterial agents to target breast cancer in a tumor-bearing nude mouse model has been previously reported. Furthermore, immune cell accumulation in breast tumor types has been observed, particularly distributed in regions surrounding the bacteria. M2 macrophages are associated with breast cancer aggressiveness, whereas M1 macrophages are prone to devouring bacteria and killing cancer cells...
March 2018: Oncology Letters
https://www.readbyqxmd.com/read/29439875/consensus-document-on-the-implementation-of-next-generation-sequencing-in-the-genetic-diagnosis-of-hereditary-cancer
#16
José Luis Soto, Ignacio Blanco, Orland Díez, Javier García Planells, Isabel Lorda, Gert Matthijs, Mercedes Robledo, Erika Souche, Conxi Lázaro
Genetic diagnosis of hereditary cancer syndromes offers the opportunity to establish more effective predictive and preventive measures for the patient and their families. The ultimate objective is to decrease cancer morbidity and mortality in high genetic risk families. Next Generation Sequencing (NGS) offers an important improvement in the efficiency of genetic diagnosis, allowing an increase in diagnostic yield with a substantial reduction in response times and economic costs. Consequently, the implementation of this new technology is a great opportunity for improvement in the clinical management of affected families...
February 10, 2018: Medicina Clínica
https://www.readbyqxmd.com/read/29392648/the-first-two-confirmed-sub-saharan-african-families-with-germline-tp53-mutations-causing-li-fraumeni-syndrome
#17
Shelley Macaulay, Quintin Clive Goodyear, Mia Kruger, Wenlong Chen, Fahmida Essop, Amanda Krause
Li-Fraumeni syndrome is a rare inherited cancer syndrome characterised by the early onset of specific cancers. Li-Fraumeni syndrome (LFS) is associated with germline mutations in the tumour suppressor gene, TP53. This study reports the first cases of molecularly confirmed LFS germline mutations in sub-Saharan Africa. Three black African patients, all with LFS-associated cancers, were seen through the Clinical and Counselling Section of the Division of Human Genetics at the National Health Laboratory Service and University of the Witwatersrand in Johannesburg, South Africa, during 2011-2012...
February 1, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29342165/increased-colon-cancer-risk-after-severe-salmonella-infection
#18
Lapo Mughini-Gras, Michael Schaapveld, Jolanda Kramers, Sofie Mooij, E Andra Neefjes-Borst, Wilfrid van Pelt, Jacques Neefjes
BACKGROUND: Colon cancer constitutes one of the most frequent malignancies. Previous studies showed that Salmonella manipulates host cell signaling pathways and that Salmonella Typhimurium infection facilitates colon cancer development in genetically predisposed mice. This epidemiological study examined whether severe Salmonella infection, usually acquired from contaminated food, is associated with increased colon cancer risk in humans. METHODS AND FINDINGS: We performed a nationwide registry-based study to assess colon cancer risk after diagnosed Salmonella infection...
2018: PloS One
https://www.readbyqxmd.com/read/29330528/application-of-weighted-gene-co-expression-network-analysis-for-data-from-paired-design
#19
Jianqiang Li, Doudou Zhou, Weiliang Qiu, Yuliang Shi, Ji-Jiang Yang, Shi Chen, Qing Wang, Hui Pan
Investigating how genes jointly affect complex human diseases is important, yet challenging. The network approach (e.g., weighted gene co-expression network analysis (WGCNA)) is a powerful tool. However, genomic data usually contain substantial batch effects, which could mask true genomic signals. Paired design is a powerful tool that can reduce batch effects. However, it is currently unclear how to appropriately apply WGCNA to genomic data from paired design. In this paper, we modified the current WGCNA pipeline to analyse high-throughput genomic data from paired design...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29325489/creating-effective-biocontainment-facilities-and-maintenance-protocols-for-raising-specific-pathogen-free-severe-combined-immunodeficient-scid-pigs
#20
Ellis J Powell, Sara Charley, Adeline N Boettcher, Lisa Varley, Justin Brown, Martine Schroyen, Malavika K Adur, Susan Dekkers, Dean Isaacson, Mary Sauer, Joan Cunnick, N Matthew Ellinwood, Jason W Ross, Jack Cm Dekkers, Christopher K Tuggle
Severe combined immunodeficiency (SCID) is defined by the lack of an adaptive immune system. Mutations causing SCID are found naturally in humans, mice, horses, dogs, and recently in pigs, with the serendipitous discovery of the Iowa State University SCID pigs. As research models, SCID animals are naturally tolerant of xenotransplantation and offer valuable insight into research areas such as regenerative medicine, cancer therapy, as well as immune cell signaling mechanisms. Large-animal biomedical models, particularly pigs, are increasingly essential to advance the efficacy and safety of novel regenerative therapies on human disease...
January 1, 2018: Laboratory Animals
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