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https://www.readbyqxmd.com/read/28092921/the-ligand-sas-and-its-receptor-ptp10d-drive-tumour-suppressive-cell-competition
#1
Masatoshi Yamamoto, Shizue Ohsawa, Kei Kunimasa, Tatsushi Igaki
Normal epithelial cells often exert anti-tumour effects against nearby oncogenic cells. In the Drosophila imaginal epithelium, clones of oncogenic cells with loss-of-function mutations in the apico-basal polarity genes scribble or discs large are actively eliminated by cell competition when surrounded by wild-type cells. Although c-Jun N-terminal kinase (JNK) signalling plays a crucial role in this cell elimination, the initial event, which occurs at the interface between normal cells and polarity-deficient cells, has not previously been identified...
January 16, 2017: Nature
https://www.readbyqxmd.com/read/28092686/epigenomic-reprogramming-during-pancreatic-cancer-progression-links-anabolic-glucose-metabolism-to-distant-metastasis
#2
Oliver G McDonald, Xin Li, Tyler Saunders, Rakel Tryggvadottir, Samantha J Mentch, Marc O Warmoes, Anna E Word, Alessandro Carrer, Tal H Salz, Sonoko Natsume, Kimberly M Stauffer, Alvin Makohon-Moore, Yi Zhong, Hao Wu, Kathryn E Wellen, Jason W Locasale, Christine A Iacobuzio-Donahue, Andrew P Feinberg
During the progression of pancreatic ductal adenocarcinoma (PDAC), heterogeneous subclonal populations emerge that drive primary tumor growth, regional spread, distant metastasis, and patient death. However, the genetics of metastases largely reflects that of the primary tumor in untreated patients, and PDAC driver mutations are shared by all subclones. This raises the possibility that an epigenetic process might operate during metastasis. Here we report large-scale reprogramming of chromatin modifications during the natural evolution of distant metastasis...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28092682/limited-heterogeneity-of-known-driver-gene-mutations-among-the-metastases-of-individual-patients-with-pancreatic-cancer
#3
Alvin P Makohon-Moore, Ming Zhang, Johannes G Reiter, Ivana Bozic, Benjamin Allen, Deepanjan Kundu, Krishnendu Chatterjee, Fay Wong, Yuchen Jiao, Zachary A Kohutek, Jungeui Hong, Marc Attiyeh, Breanna Javier, Laura D Wood, Ralph H Hruban, Martin A Nowak, Nickolas Papadopoulos, Kenneth W Kinzler, Bert Vogelstein, Christine A Iacobuzio-Donahue
The extent of heterogeneity among driver gene mutations present in naturally occurring metastases-that is, treatment-naive metastatic disease-is largely unknown. To address this issue, we carried out 60× whole-genome sequencing of 26 metastases from four patients with pancreatic cancer. We found that identical mutations in known driver genes were present in every metastatic lesion for each patient studied. Passenger gene mutations, which do not have known or predicted functional consequences, accounted for all intratumoral heterogeneity...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28092681/genomic-analysis-of-globally-diverse-mycobacterium-tuberculosis-strains-provides-insights-into-the-emergence-and-spread-of-multidrug-resistance
#4
Abigail L Manson, Keira A Cohen, Thomas Abeel, Christopher A Desjardins, Derek T Armstrong, Clifton E Barry, Jeannette Brand, Sinéad B Chapman, Sang-Nae Cho, Andrei Gabrielian, James Gomez, Andreea M Jodals, Moses Joloba, Pontus Jureen, Jong Seok Lee, Lesibana Malinga, Mamoudou Maiga, Dale Nordenberg, Ecaterina Noroc, Elena Romancenco, Alex Salazar, Willy Ssengooba, A A Velayati, Kathryn Winglee, Aksana Zalutskaya, Laura E Via, Gail H Cassell, Susan E Dorman, Jerrold Ellner, Parissa Farnia, James E Galagan, Alex Rosenthal, Valeriu Crudu, Daniela Homorodean, Po-Ren Hsueh, Sujatha Narayanan, Alexander S Pym, Alena Skrahina, Soumya Swaminathan, Martie Van der Walt, David Alland, William R Bishai, Ted Cohen, Sven Hoffner, Bruce W Birren, Ashlee M Earl
Multidrug-resistant tuberculosis (MDR-TB), caused by drug-resistant strains of Mycobacterium tuberculosis, is an increasingly serious problem worldwide. Here we examined a data set of whole-genome sequences from 5,310 M. tuberculosis isolates from five continents. Despite the great diversity of these isolates with respect to geographical point of isolation, genetic background and drug resistance, the patterns for the emergence of drug resistance were conserved globally. We have identified harbinger mutations that often precede multidrug resistance...
January 16, 2017: Nature Genetics
https://www.readbyqxmd.com/read/28092658/mutation-effects-predicted-from-sequence-co-variation
#5
Thomas A Hopf, John B Ingraham, Frank J Poelwijk, Charlotta P I Schärfe, Michael Springer, Chris Sander, Debora S Marks
Many high-throughput experimental technologies have been developed to assess the effects of large numbers of mutations (variation) on phenotypes. However, designing functional assays for these methods is challenging, and systematic testing of all combinations is impossible, so robust methods to predict the effects of genetic variation are needed. Most prediction methods exploit evolutionary sequence conservation but do not consider the interdependencies of residues or bases. We present EVmutation, an unsupervised statistical method for predicting the effects of mutations that explicitly captures residue dependencies between positions...
January 16, 2017: Nature Biotechnology
https://www.readbyqxmd.com/read/28092621/cholesterol-deficiency-new-genetic-defect-transmitted-to-polish-holstein-friesian-cattle
#6
S Kamiński, A Ruść
The aim of the study was to find out whether carriers of new genetic defect Cholesterol Deficiency (CD) occur in the population of Polish Holstein-Friesian bulls. Twenty seven bulls were included in the analysis. Bulls were selected as having in the pedigree known carrier of CD (Maughlin Storm CANM000005457798). All bulls were diagnosed by the test described by Menzi et al. (2016) by using allele-specific PCR. Among 27 bulls, 9 new CD carriers were found. Our results show that causal mutation for CD is already transmitted to Polish Holstein-Friesian cattle...
December 1, 2016: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28092363/mouse-models-of-uv-induced-melanoma-genetics-pathology-and-clinical-relevance
#7
Chi-Ping Day, Rachel Marchalik, Glenn Merlino, Helen Michael
Melanocytes, a neural crest cell derivative, produce pigment to protect keratinocytes from ultraviolet radiation (UVR). Although melanocytic lesions such as nevi and cutaneous malignant melanomas are known to be associated with sun exposure, the role of UVR in oncogenesis is complex and has yet to be clearly elucidated. UVR appears to have a direct mutational role in inducing or promoting melanoma formation as well as an indirect role through microenvironmental changes. Recent advances in the modeling of human melanoma in animals have built platforms upon which prospective studies can begin to investigate these questions...
January 16, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/28092312/synchronous-presentation-of-renal-cell-carcinoma-and-hodgkin-lymphoma-in-an-adolescent
#8
Mohamed Y Elsaid, Kara G Gill, Ankush Gosain, Peter F Nichol, Charles M Leys, Darya Buehler, Catherine P Leith, Neha J Patel
BACKGROUND: Coincidence of renal cell carcinoma (RCC) and hematologic malignancies has been reported in adults but not in children. OBSERVATION: We report a case of a 16-year-old girl in whom RCC was incidentally discovered on the computed tomography scan that was performed to stage her underlying Hodgkin lymphoma. Analysis of constitutional cytogenetics for common genetic aberrations that predispose to RCC did not reveal any mutations or genetic variations. However, cytogenetics on the RCC tumor demonstrated a rare reciprocal translocation between chromosomes 6 and 11, t(6;11)(p21;q12)...
January 13, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28091917/detection-of-rare-mutations-by-routine-analysis-of-kras-nras-and-braf-oncogenes
#9
D S Mikhailenko, G D Efremov, N Yu Safronova, V V Strelnikov, B Ya Alekseev
Molecular genetic analysis of KRAS, NRAS, and BRAF genes was carried out in order to develop an optimal algorithm for detection of minor mutations. We analyzed 35 melanoma and 33 colorectal cancer specimens. Frequent G12D/V/A/C/S mutations were detected in KRAS. The most frequent BRAF mutation in melanoma was V600E, the percentage of rare mutations is significant for DNA diagnosis (24%). Identification of rare BRAF mutations 1790C→G (L597R), 1798_1799delinsAA (V600K), 1798_1799delinsAG (V600R), and 1799_1800delinsAA (V600E) and NRAS mutation 38G→T (G13V) was possible only by Sanger sequencing...
January 14, 2017: Bulletin of Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28091859/cancer-genetic-counselors-current-practices-and-attitudes-related-to-the-use-of-tumor-profiling
#10
LeAnne Noelle Goedde, Nathan W Stupiansky, Melissa Lah, Kimberly A Quaid, Stephanie Cohen
Tumor profiling (TP) is primarily used to identify driver mutations within a tumor for treatment purposes, but it may also identify germline mutations. Current involvement of cancer genetic counselors (GCs) in the TP process is not clear. Members of the National Society of Genetic Counselors Cancer Special Interest Group were invited to participate in a confidential, web-based survey to characterize current practices and attitudes related to the use of TP. Of 105 useable responses, 86.7% of GCs reported their institutions were using TP, although only 6...
January 13, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28091408/novel-mutation-of-cleidocranial-dysplasia-related-frameshift-runt-related-transcription-factor-2-in-a-sporadic-chinese-case
#11
Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28091403/chronic-lymphocytic-leukemia-prognostic-index-a-new-integrated-scoring-system-to-predict-the-time-to-first-treatment-in-chinese-patients-with-chronic-lymphocytic-leukemia
#12
Heng Li, Shu-Hua Yi, Wen-Jie Xiong, Hui-Min Liu, Rui Lyu, Ting-Yu Wang, Wei Liu, Shi-Zhen Zhong, Zhen Yu, De-Hui Zou, Yan Xu, Gang An, Zeng-Jun Li, Lu-Gui Qiu
BACKGROUND: The established clinical staging systems (Rai/Binet) of chronic lymphocytic leukemia (CLL) cannot accurately predict the appropriate treatment of patients in the earlier stages. In the past two decades, several prognostic factors have been identified to predict the outcome of patients with CLL, but only a few studies investigated more markers together. To predict the time to first treatment (TTFT) in patients of early stages, we evaluated the prognostic role of conventional markers as well as cytogenetic abnormalities and combined them together in a new prognostic scoring system, the CLL prognostic index (CLL-PI)...
2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28091399/sex-determination-and-maintenance-the-role-of-dmrt1-and-foxl2
#13
REVIEW
Shengsong Huang, Leping Ye, Haolin Chen
In many species, including mammals, sex determination is genetically based. The sex chromosomes that individuals carry determine sex identity. Although the genetic base of phenotypic sex is determined at the moment of fertilization, the development of testes or ovaries in the bipotential early gonads takes place during embryogenesis. During development, sex determination depends upon very few critical genes. When one of these key genes functions inappropriately, sex reversal may happen. Consequently, an individual's sex phenotype may not necessarily be consistent with the sex chromosomes that are present...
January 13, 2017: Asian Journal of Andrology
https://www.readbyqxmd.com/read/28090684/predict-pd-an-online-approach-to-prospectively-identify-risk-indicators-of-parkinson-s-disease
#14
Alastair J Noyce, Lea R'Bibo, Luisa Peress, Jonathan P Bestwick, Kerala L Adams-Carr, Niccolo E Mencacci, Christopher H Hawkes, Joseph M Masters, Nicholas Wood, John Hardy, Gavin Giovannoni, Andrew J Lees, Anette Schrag
BACKGROUND: A number of early features can precede the diagnosis of Parkinson's disease (PD). OBJECTIVE: To test an online, evidence-based algorithm to identify risk indicators of PD in the UK population. METHODS: Participants aged 60 to 80 years without PD completed an online survey and keyboard-tapping task annually over 3 years, and underwent smell tests and genotyping for glucocerebrosidase (GBA) and leucine-rich repeat kinase 2 (LRRK2) mutations...
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28090676/mutations-in-tmem230-are-not-a-common-cause-of-parkinson-s-disease
#15
Marialuisa Quadri, Guido J Breedveld, Hsiu-Chen Chang, Tu-Hsueh Yeh, Leonor Correia Guedes, Vincenzo Toni, Edito Fabrizio, Michele De Mari, Astrid Thomas, Cristina Tassorelli, Janneke P M A Rood, Valeria Saddi, Hsin Fen Chien, Anneke J A Kievit, Agnita J W Boon, Fabrizio Stocchi, Leonardo Lopiano, Giovanni Abbruzzese, Pietro Cortelli, Giuseppe Meco, Giovanni Cossu, Egberto Reis Barbosa, Joaquim J Ferreira, Chin-Song Lu, Vincenzo Bonifati
No abstract text is available yet for this article.
January 16, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28090567/the-rna-polymerase-iii-subunit-polr3b-is-required-for-the-maintenance-of-small-intestinal-crypts-in-mice
#16
Julia Kieckhaefer, Sabina Lukovac, Diana Z Ye, Dolim Lee, Danielle J Beetler, Michael Pack, Klaus H Kaestner
BACKGROUND & AIMS: The continuously self-renewing mammalian intestinal epithelium, with high cellular turnover, depends on adequate protein synthesis for its proliferative capacity. RNA polymerase III activity is closely related to cellular growth and proliferation. Here, we studied the role of Polr3b, a large RNA polymerase III subunit, in the mammalian intestinal epithelium. METHODS: We derived mice with an intestinal epithelium-specific hypomorphic mutation of the Polr3b gene, using VillinCre-mediated gene ablation...
November 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28090565/thbs2-is-a-candidate-modifier-of-liver-disease-severity-in-alagille-syndrome
#17
Ellen A Tsai, Melissa A Gilbert, Christopher M Grochowski, Lara A Underkoffler, He Meng, Xiaojie Zhang, Michael M Wang, Hailu Shitaye, Kurt D Hankenson, David Piccoli, Henry Lin, Binita M Kamath, Marcella Devoto, Nancy B Spinner, Kathleen M Loomes
BACKGROUND & AIMS: Alagille syndrome is an autosomal-dominant, multisystem disorder caused primarily by mutations in JAG1, resulting in bile duct paucity, cholestasis, cardiac disease, and other features. Liver disease severity in Alagille syndrome is highly variable, however, factors influencing the hepatic phenotype are unknown. We hypothesized that genetic modifiers may contribute to the variable expressivity of this disorder. METHODS: We performed a genome-wide association study in a cohort of Caucasian subjects with known pathogenic JAG1 mutations, comparing patients with mild vs severe liver disease, followed by functional characterization of a candidate locus...
September 2016: Cellular and Molecular Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/28090303/genotype-phenotype-effects-of-bmpr2-mutations-on-disease-severity-in-mouse-models-of-pulmonary-hypertension
#18
Andrea L Frump, Arunima Datta, Sampa Ghose, James West, Mark P de Caestecker
More than 350 mutations in the type-2 BMP (bone morphogenetic protein) receptor, BMPR2, have been identified in patients with heritable pulmonary arterial hypertension (HPAH). However, only 30% of BMPR2 mutation carriers develop PAH, and we cannot predict which of these carriers will develop clinical disease. One possibility is that the nature of the BMPR2 mutation affects disease severity. This hypothesis has been difficult to test clinically, given the rarity of HPAH and the complexity of the confounding genetic and environmental risk factors...
December 2016: Pulmonary Circulation
https://www.readbyqxmd.com/read/28090092/the-clonal-origins-of-leukemic-progression-of-myelodysplasia
#19
T H Kim, M S Tyndel, H J Kim, J-S Ahn, S H Choi, H J Park, Y-K Kim, D-H Yang, J-J Lee, S-H Jung, S Y Kim, Y H Min, J-W Cheong, S K Sohn, J H Moon, M Choi, M Lee, Z Zhang, D Dong Hwan Kim
The genetics behind the progression of myelodysplasia to secondary acute myeloid leukemia (sAML) is poorly understood. In this study, we profiled somatic mutations and their dynamics using next generation sequencing on serial samples from a total of 124 patients, consisting of a 31 patient discovery cohort and 93 patients from two validation cohorts. Whole-exome analysis on the discovery cohort revealed that 29 of 31 patients carry mutations related to at least one of 8 commonly mutated pathways in AML. Mutations in genes related to DNA methylation and splicing machinery were found in T-cell samples, which expand at the initial diagnosis of the myelodysplasia, suggesting their importance as early disease events...
January 16, 2017: Leukemia: Official Journal of the Leukemia Society of America, Leukemia Research Fund, U.K
https://www.readbyqxmd.com/read/28089908/human-aml-ipscs-reacquire-leukemic-properties-after-differentiation-and-model-clonal-variation-of-disease
#20
Mark P Chao, Andrew J Gentles, Susmita Chatterjee, Feng Lan, Andreas Reinisch, M Ryan Corces, Seethu Xavy, Jinfeng Shen, Daniel Haag, Soham Chanda, Rahul Sinha, Rachel M Morganti, Toshinobu Nishimura, Mohamed Ameen, Haodi Wu, Marius Wernig, Joseph C Wu, Ravindra Majeti
Understanding the relative contributions of genetic and epigenetic abnormalities to acute myeloid leukemia (AML) should assist integrated design of targeted therapies. In this study, we generated induced pluripotent stem cells (iPSCs) from AML patient samples harboring MLL rearrangements and found that they retained leukemic mutations but reset leukemic DNA methylation/gene expression patterns. AML-iPSCs lacked leukemic potential, but when differentiated into hematopoietic cells, they reacquired the ability to give rise to leukemia in vivo and reestablished leukemic DNA methylation/gene expression patterns, including an aberrant MLL signature...
December 26, 2016: Cell Stem Cell
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