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https://www.readbyqxmd.com/read/29792762/genetic-profiling-in-acute-myeloid-leukemia-a-path-to-predicting-treatment-outcome
#1
Giuseppe Visani, Federica Loscocco, Alessandro Isidori, Pier Paolo Piccaluga
Despite substantial progresses in acute myeloid leukemia (AML) diagnosis and treatment, at least half of patient will eventually die for the disease. In the last decades, the use of genetic and genomic approaches allowed the identification of patients with higher risk of recurrence after and/or resistance to CHT. However, though many novel drugs have been proposed and tested, only little clinical improvements have been made concerning the treatment of the so called 'high risk' patients. Areas covered: In this article, the authors, based on their own experience and the most updated literature, review the basic knowledge of AML prognostication and treatment prediction developed throughout genetic and genomic profiling, and focus on the use of gene expression profiling as a promising predictive tool...
May 24, 2018: Expert Review of Hematology
https://www.readbyqxmd.com/read/29792313/one-gene-many-endocrine-and-metabolic-syndromes-pten-opathies-and-precision-medicine
#2
Lamis Yehia, Charis Eng
An average of 10% of all cancers (range 1-40%) are caused by heritable mutations and over the years, have become powerful models for precision medicine practice. Furthermore, such cancer predisposition genes for seemingly rare syndromes have turned out to help explain mechanisms of sporadic carcinogenesis and often inform normal development. The tumor suppressor PTEN encodes a ubiquitously expressed phosphatase that counteracts the PI3K/AKT/mTOR cascade - one of the most critical growth-promoting signaling pathways...
May 23, 2018: Endocrine-related Cancer
https://www.readbyqxmd.com/read/29792157/long-term-health-and-germline-transmission-in-transgenic-cattle-following-transposon-mediated-gene-transfer
#3
Soo-Young Yum, Song-Jeon Lee, Sin-Gi Park, In-Gang Shin, Sang-Eun Hahn, Woo-Jae Choi, Hee-Soo Kim, Hyeong-Jong Kim, Seong-Hun Bae, Je-Hyeong Lee, Joo-Yeong Moon, Woo-Sung Lee, Ji-Hyun Lee, Choong-Il Lee, Seong-Jin Kim, Goo Jang
BACKGROUND: Transposon-mediated, non-viral gene delivery is a powerful tool for generating stable cell lines and transgenic animals. However, as multi-copy insertion is the preferred integration pattern, there is the potential for uncontrolled changes in endogenous gene expression and detrimental effects in cells or animals. Our group has previously reported on the generation of several transgenic cattle by using microinjection of the Sleeping Beauty (SB) and PiggyBac (PB) transposons and seeks to explore the long-term effects of this technology on cattle...
May 23, 2018: BMC Genomics
https://www.readbyqxmd.com/read/29791857/a-cytoplasmic-argonaute-protein-promotes-the-inheritance-of-rnai
#4
Fei Xu, Xuezhu Feng, Xiangyang Chen, Chenchun Weng, Qi Yan, Ting Xu, Minjie Hong, Shouhong Guang
RNAi-elicited gene silencing is heritable and can persist for multiple generations after its initial induction in C. elegans. However, the mechanism by which parental-acquired trait-specific information from RNAi is inherited by the progenies is not fully understood. Here, we identified a cytoplasmic Argonaute protein, WAGO-4, necessary for the inheritance of RNAi. WAGO-4 exhibits asymmetrical translocation to the germline during early embryogenesis, accumulates at the perinuclear foci in the germline, and is required for the inheritance of exogenous RNAi targeting both germline- and soma-expressed genes...
May 22, 2018: Cell Reports
https://www.readbyqxmd.com/read/29791850/the-memory-of-environmental-chemical-exposure-in-c-elegans-is-dependent-on-the-jumonji-demethylases-jmjd-2-and-jmjd-3-utx-1
#5
Jessica Camacho, Lisa Truong, Zeyneb Kurt, Yen-Wei Chen, Marco Morselli, Gerardo Gutierrez, Matteo Pellegrini, Xia Yang, Patrick Allard
How artificial environmental cues are biologically integrated and transgenerationally inherited is still poorly understood. Here, we investigate the mechanisms of inheritance of reproductive outcomes elicited by the model environmental chemical Bisphenol A in C. elegans. We show that Bisphenol A (BPA) exposure causes the derepression of an epigenomically silenced transgene in the germline for 5 generations, regardless of ancestral response. Chromatin immunoprecipitation sequencing (ChIP-seq), histone modification quantitation, and immunofluorescence assays revealed that this effect is associated with a reduction of the repressive marks H3K9me3 and H3K27me3 in whole worms and in germline nuclei in the F3, as well as with reproductive dysfunctions, including germline apoptosis and embryonic lethality...
May 22, 2018: Cell Reports
https://www.readbyqxmd.com/read/29791287/brca1-2-mutations-and-bevacizumab-in-the-neoadjuvant-treatment-of-breast-cancer-response-and-prognosis-results-in-patients-with-triple-negative-breast-cancer-from-the-geparquinto-study
#6
Peter A Fasching, Sibylle Loibl, Chunling Hu, Steven N Hart, Hermela Shimelis, Raymond Moore, Christian Schem, Hans Tesch, Michael Untch, Jörn Hilfrich, Mahdi Rezai, Bernd Gerber, Serban Dan Costa, Jens-Uwe Blohmer, Tanja Fehm, Jens Huober, Cornelia Liedtke, Richard M Weinshilboum, Liewei Wang, James N Ingle, Volkmar Müller, Valentina Nekljudova, Karsten E Weber, Brigitte Rack, Matthias Rübner, Gunter von Minckwitz, Fergus J Couch
Purpose BRCA1/2 mutations are frequent in patients with triple-negative breast cancer (TNBC). These patients are often treated with primary systemic chemotherapy. The aim of this study was to analyze the effects of BRCA1/2 mutations on pathologic complete response (pCR) and disease-free survival (DFS) in a cohort of patients with TNBC treated with anthracycline and taxane-containing chemotherapy, with or without bevacizumab. Patients and Methods Germline DNA was sequenced to identify mutations in BRCA1 and BRCA2 in 493 patients with TNBC from the GeparQuinto study...
May 23, 2018: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29789652/small-hypoxia-primed-mesenchymal-stem-cells-attenuate-graft-versus-host-disease
#7
YongHwan Kim, Hye Jin Jin, Jinbeom Heo, Hyein Ju, Hye-Yeon Lee, Sujin Kim, Seungun Lee, Jisun Lim, Sang Young Jeong, JiHye Kwon, Miyeon Kim, Soo Jin Choi, Wonil Oh, Yoon Sun Yang, Hyun Ho Hwang, Hwan Yeul Yu, Chae-Min Ryu, Hong Bae Jeon, Dong-Myung Shin
Mesenchymal stem cells (MSCs) are of particular interest for the treatment of immune-related diseases due to their immunosuppressive capacity. Here, we show that Small MSCs primed with Hypoxia and Calcium ions (SHC-MSCs) exhibit enhanced stemness and immunomodulatory functions for treating allogeneic conflicts. Compared with naïve cultured human umbilical cord blood-derived MSCs, SHC-MSCs were resistant to passage-dependent senescence mediated via the monocyte chemoattractant protein-1 and p53/p21 cascade and secreted large amounts of pro-angiogenic and immunomodulatory factors, resulting in suppression of T-cell proliferation...
May 22, 2018: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/29789510/functioning-mediastinal-paraganglioma-associated-with-a-germline-mutation-of-von-hippel-lindau-gene
#8
Thibault Bahougne, Pauline Romanet, Amira Mohamed, Kevin Caselles, Thomas Cuny, Anne Barlier, Patricia Niccoli
We report the case of a 21-year old woman presenting with high blood pressure and raised normetanephrine levels. Indium-111-pentetreotide single photon-emission computed tomography with computed tomography (SPECT/CT) and 2-deoxy-2-[fluorine-18]fluoro-d-glucose (FDG) positron emission tomography/computed tomography (PET/CT) imaging showing isolated tracer-uptake by a 2 cm tumor close to the costovertebral angle of the third thoracic vertebra. Thoracic surgery led to normalization of normetanephrine levels. Histological findings were consistent with the presence of a paraganglioma...
May 23, 2018: Journal of Clinical Medicine
https://www.readbyqxmd.com/read/29788428/puf60-activated-exons-uncover-altered-3-splice-site-selection-by-germline-missense-mutations-in-a-single-rrm
#9
Jana Královicová, Ivana Ševcíková, Eva Stejskalová, Mina Obuca, Michael Hiller, David Stanek, Igor Vorechovský
PUF60 is a splicing factor that binds uridine (U)-rich tracts and facilitates association of the U2 small nuclear ribonucleoprotein with primary transcripts. PUF60 deficiency (PD) causes a developmental delay coupled with intellectual disability and spinal, cardiac, ocular and renal defects, but PD pathogenesis is not understood. Using RNA-Seq, we identify human PUF60-regulated exons and show that PUF60 preferentially acts as their activator. PUF60-activated internal exons are enriched for Us upstream of their 3' splice sites (3'ss), are preceded by longer AG dinucleotide exclusion zones and more distant branch sites, with a higher probability of unpaired interactions across a typical branch site location as compared to control exons...
May 18, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29788325/ancestral-tcdd-exposure-induces-multigenerational-histologic-and-transcriptomic-alterations-in-gonads-of-male-zebrafish
#10
Danielle N Meyer, Bridget B Baker, Tracie R Baker
TCDD (2,3,7,8-tetrachlorodibenzo-p-dioxin), the classic AhR (aryl hydrocarbon receptor) agonist, is a potent environmental toxicant and endocrine-disrupting chemical (EDC) with known developmental toxicity in humans, rodents, and fish. Early life exposure to some EDCs, including TCDD, is linked to the occurrence of adult-onset and multigenerational disease. Previous work exposing juvenile F0 zebrafish (Danio rerio) to 50 ppt (parts per trillion) TCDD during reproductive development has shown male-mediated transgenerational decreases in fertility (F0-F2) and histological and transcriptomic alterations in F0 testes...
May 21, 2018: Toxicological Sciences: An Official Journal of the Society of Toxicology
https://www.readbyqxmd.com/read/29788099/biomarkers-for-homologous-recombination-deficiency-in-cancer
#11
Michal M Hoppe, Raghav Sundar, David S P Tan, Anand D Jeyasekharan
Defective DNA repair is a common hallmark of cancer. Homologous recombination is a DNA repair pathway of clinical interest due to the sensitivity of homologous recombination-deficient cells to poly-ADP ribose polymerase (PARP) inhibitors. The measurement of homologous recombination deficiency (HRD) in cancer is therefore vital to the appropriate design of clinical trials incorporating PARP inhibitors. However, methods to identify HRD in tumors are varied and controversial. Understanding existing and new methods to measure HRD is important to their appropriate use in clinical trials and practice...
May 18, 2018: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29787722/programmed-dna-elimination-keeping-germline-genes-in-their-place
#12
Jeramiah J Smith
Each of our cells contains a full set of instructions needed to make an entire human: the genome. But a few special species buck this trend. A new study now identifies the first germline-specific gene in zebra finch, one of a small number of vertebrates that are known to undergo developmentally programmed DNA elimination.
May 21, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29786512/-kidney-full-of-stones-and-an-adrenal-gland-not-quite-normal
#13
S Regnier Le Coz, D Drui
A 31-year-old patient was followed for cystinuria, justifying CT scans. In 2006, a tissue mass of 3cm of the right adrenal gland, homogeneous, measured at 3.5cm in 2007 was noted. Blood pressure was 90/61mmHg, without orthostatic hypotension. During the clinical interview, no discomfort, sweat attack, headache, or palpitation was reported by the patient. Hormonal assays did not favor a primary hyperaldosteronism, or a hypercortisolism. Adrenal androgens were normal. 24h normetanephrines urinary excretion and metanephrines to creatinine ratio were elevated...
May 18, 2018: Annales de Cardiologie et D'angéiologie
https://www.readbyqxmd.com/read/29785135/mutation-analysis-of-brca1-2-mutations-with-special-reference-to-polymorphic-snps-in-indian-breast-cancer-patients
#14
Nidhi D Shah, Parth S Shah, Yash Y Panchal, Kalpesh H Katudia, Nikunj B Khatri, Hari Shankar P Ray, Upti R Bhatiya, Sandip C Shah, Bhavini S Shah, Mandava V Rao
Background: Germline mutations BRCA1 and BRCA2 contribute almost equally in the causation of breast cancer (BC). The type of mutations in the Indian population that cause this condition is largely unknown. Purpose: In this cohort, 79 randomized BC patients were screened for various types of BRCA1 and BRCA2 mutations including frameshift, nonsense, missense, in-frame and splice site types. Materials and methods: The purified extracted DNA of each referral patient was subjected to Sanger gene sequencing using Codon Code Analyzer and Mutation Surveyor and next-generation sequencing (NGS) methods with Ion torrent software, after appropriate care...
2018: Application of Clinical Genetics
https://www.readbyqxmd.com/read/29785007/characterization-and-prevalence-of-two-novel-chek2-large-deletions-in-greek-breast-cancer-patients
#15
Paraskevi Apostolou, Florentia Fostira, Vasiliki Mollaki, Angeliki Delimitsou, Metaxia Vlassi, George Pentheroudakis, Eleni Faliakou, Panagoula Kollia, George Fountzilas, Drakoulis Yannoukakos, Irene Konstantopoulou
Germline CHEK2 mutations confer increased cancer risk, for breast and other types, which is variable depending on the specific mutation. Of these, Large Genomic Rearrangements (LGRs) have been rarely reported; to date only eight LGRs have been published with just the Czech founder mutation, the deletion of exons 9 and 10, being molecularly characterized and studied extensively. The present study aimed to molecularly define and determine the contribution of two rare, apparently novel CHEK2 LGRs, among Greek breast cancer patients...
May 22, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29785006/the-era-of-immunogenomics-immunopharmacogenomics
#16
REVIEW
Makda Zewde, Kazuma Kiyotani, Jae-Hyun Park, Hua Fang, Kai Lee Yap, Poh Yin Yew, Houda Alachkar, Taigo Kato, Tu H Mai, Yuji Ikeda, Tatsuo Matsuda, Xiao Liu, Lili Ren, Boya Deng, Makiko Harada, Yusuke Nakamura
Although germline alterations and somatic mutations in disease cells have been extensively analyzed, molecular changes in immune cells associated with disease conditions have not been characterized in depth. It is clear that our immune system has a critical role in various biological and pathological conditions, such as infectious diseases, autoimmune diseases, drug-induced skin and liver toxicity, food allergy, and rejection of transplanted organs. The recent development of cancer immunotherapies, particularly drugs modulating the immune checkpoint molecules, has clearly demonstrated the importance of host immune cells in cancer treatments...
May 21, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29784083/a-homozygous-loss-of-function-camk2a-mutation-causes-growth-delay-frequent-seizures-and-severe-intellectual-disability
#17
Poh Hui Chia, Franklin Lei Zhong, Shinsuke Niwa, Carine Bonnard, Kagistia Hana Utami, Ruizhu Zeng, Hane Lee, Ascia Eskin, Stanley F Nelson, William H Xie, Samah Al-Tawalbeh, Mohammad El-Khateeb, Mohammad Shboul, Mahmoud A Pouladi, Mohammed Al-Raqad, Bruno Reversade
Calcium/calmodulin-dependent protein kinase II (CAMK2) plays fundamental roles in synaptic plasticity that underlies learning and memory. Here, we describe a new recessive neurodevelopmental syndrome with global developmental delay, seizures and intellectual disability. Using linkage analysis and exome sequencing, we found that this disease maps to chromosome 5q31.1-q34 and is caused by a biallelic germline mutation in CAMK2A . The missense mutation, p.His477Tyr is located in the CAMK2A association domain that is critical for its function and localization...
May 22, 2018: ELife
https://www.readbyqxmd.com/read/29783979/lynch-syndrome-associated-endometrial-carcinoma-with-mlh1-germline-mutation-and-mlh1-promoter-hypermethylation-a-case-report-and-literature-review
#18
Takanori Yokoyama, Kazuhiro Takehara, Nao Sugimoto, Keika Kaneko, Etsuko Fujimoto, Mika Okazawa-Sakai, Shinichi Okame, Yuko Shiroyama, Takashi Yokoyama, Norihiro Teramoto, Shozo Ohsumi, Shinya Saito, Kazuho Imai, Kokichi Sugano
BACKGROUND: Lynch syndrome is an autosomal dominant inherited disease caused by germline mutations in mismatch repair genes. Analysis for microsatellite instability (MSI) and immunohistochemistry (IHC) of protein expressions of disease-associated genes is used to screen for Lynch syndrome in endometrial cancer patients. When losses of both MLH1 and PMS2 proteins are observed by IHC, MLH1 promoter methylation analysis is conducted to distinguish Lynch syndrome-associated endometrial cancer from sporadic cancer...
May 21, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29783802/-clinicopathologic-and-molecular-features-of-cribriform-morular-variant-of-papillary-thyroid-carcinoma
#19
X J Cui, H O Zhao, P Su, J Chen, R Y Zhang, Y Pan, X M Ouyang, J Liu, J Q Zhang, Y Yang, R Yang, L Ding, Z Y Liu
Objective: To investigate the clinicopathologic and molecular features of the rare cribriform morular variant of papillary thyroid carcinoma (CMV-PTC). Methods: The clinicopathologic data of 10 patients with CMV-PTC were retrospectively reviewed. Immunohistochemical (IHC) staining was done using LSAB method. DNA sequencing for APC were applied using Sanger method. BRAF V600E mutation was examined using ARMS method. The cytological, morphological, IHC and molecular features were analyzed. Results: All patients were female at an average age of 27 years old...
May 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/29783589/re-association-of-germline-variants-in-the-apobec3-region-with-cancer-risk-and-enrichment-with-apobec-signature-mutations-in-tumors
#20
Sam S Chang
No abstract text is available yet for this article.
June 2018: Journal of Urology
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