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Genetic mutations

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https://www.readbyqxmd.com/read/29166669/frequency-of-five-disease-causing-genetic-mutations-in-a-large-mixed-breed-dog-population-2011-2012
#1
Sharon Zierath, Angela M Hughes, Neale Fretwell, Mark Dibley, Kari J Ekenstedt
BACKGROUND: A large and growing number of inherited genetic disease mutations are now known in the dog. Frequencies of these mutations are typically examined within the breed of discovery, possibly in related breeds, but nearly always in purebred dogs. No report to date has examined the frequencies of specific genetic disease mutations in a large population of mixed-breed dogs. Further, veterinarians and dog owners typically dismiss inherited/genetic diseases as possibilities for health problems in mixed-breed dogs, assuming hybrid vigor will guarantee that single-gene disease mutations are not a cause for concern...
2017: PloS One
https://www.readbyqxmd.com/read/29166655/how-well-do-you-know-your-mutation-complex-effects-of-genetic-background-on-expressivity-complementation-and-ordering-of-allelic-effects
#2
Christopher H Chandler, Sudarshan Chari, Alycia Kowalski, Lin Choi, David Tack, Michael DeNieu, William Pitchers, Anne Sonnenschein, Leslie Marvin, Kristen Hummel, Christian Marier, Andrew Victory, Cody Porter, Anna Mammel, Julie Holms, Gayatri Sivaratnam, Ian Dworkin
For a given gene, different mutations influence organismal phenotypes to varying degrees. However, the expressivity of these variants not only depends on the DNA lesion associated with the mutation, but also on factors including the genetic background and rearing environment. The degree to which these factors influence related alleles, genes, or pathways similarly, and whether similar developmental mechanisms underlie variation in the expressivity of a single allele across conditions and among alleles is poorly understood...
November 22, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29166608/s-nitrosylation-of-pink1-attenuates-pink1-parkin-dependent-mitophagy-in-hipsc-based-parkinson-s-disease-models
#3
Chang-Ki Oh, Abdullah Sultan, Joseph Platzer, Nima Dolatabadi, Frank Soldner, Daniel B McClatchy, Jolene K Diedrich, John R Yates, Rajesh Ambasudhan, Tomohiro Nakamura, Rudolf Jaenisch, Stuart A Lipton
Mutations in PARK6 (PINK1) and PARK2 (Parkin) are linked to rare familial cases of Parkinson's disease (PD). Mutations in these genes result in pathological dysregulation of mitophagy, contributing to neurodegeneration. Here, we report that environmental factors causing a specific posttranslational modification on PINK1 can mimic these genetic mutations. We describe a molecular mechanism for impairment of mitophagy via formation of S-nitrosylated PINK1 (SNO-PINK1). Mitochondrial insults simulating age- or environmental-related stress lead to increased SNO-PINK1, inhibiting its kinase activity...
November 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/29166502/outcomes-of-long-term-treatments-of-type-i-hereditary-angioedema-in-a-turkish-family
#4
Gulsen Akoglu, Belgin Kesim, Gokhan Yildiz, Ahmet Metin
BACKGROUND: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. OBJECTIVE: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. METHODS: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. RESULTS: Five members had experienced recurrent swellings on the face and extremities triggered by trauma...
September 2017: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/29166454/the-clinical-genetics-of-phaeochromocytoma-and-paraganglioma
#5
P T Kavinga Gunawardane, Ashley Grossman
Phaeochromocytoma and paraganglioma are rare catecholamine-producing tumours, recognised to have one of the richest hereditary backgrounds of all neoplasms, with germline mutations seen in approximately 30% of patients. They can be a part of genetic syndromes such as MEN 2 or Neurofibromatosis type 1, or can be found as apparently sporadic tumours. Germline mutations are almost always found in syndromic patients. Nonetheless, apparently sporadic phaeochromocytoma too show high germline mutation rates. Early detection of a genetic mutation can lead to early diagnosis of further tumours via surveillance, early treatment and better prognosis...
October 2017: Archives of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29166422/-unknown-title
#6
P Stokes, J Rimmer
BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) remains a difficult disease for the ENT specialist to manage. Affected patients often report recurrent epistaxis as the most debilitating symptom. The pathogenesis of the disease is due to genetic mutations affecting angiogenesis. For this reason, the anti-angiogenic therapy bevacizumab has gained popularity in the local treatment of epistaxis in patients with HHT. OBJECTIVE: A systematic review of the efficacy of bevacizumab in local treatment of epistaxis in patients with HHT based on epistaxis duration, frequency, severity and impact on quality of life...
November 22, 2017: Rhinology
https://www.readbyqxmd.com/read/29166413/comprehensive-molecular-profiling-of-718-multiple-myelomas-reveals-significant-differences-in-mutation-frequencies-between-african-and-european-descent-cases
#7
Zarko Manojlovic, Austin Christofferson, Winnie S Liang, Jessica Aldrich, Megan Washington, Shukmei Wong, Daniel Rohrer, Scott Jewell, Rick A Kittles, Mary Derome, Daniel Auclair, David Wesley Craig, Jonathan Keats, John D Carpten
Multiple Myeloma (MM) is a plasma cell malignancy with significantly greater incidence and mortality rates among African Americans (AA) compared to Caucasians (CA). The overall goal of this study is to elucidate differences in molecular alterations in MM as a function of self-reported race and genetic ancestry. Our study utilized somatic whole exome, RNA-sequencing, and correlated clinical data from 718 MM patients from the Multiple Myeloma Research Foundation CoMMpass study Interim Analysis 9. Somatic mutational analyses based upon self-reported race corrected for ancestry revealed significant differences in mutation frequency between groups...
November 2017: PLoS Genetics
https://www.readbyqxmd.com/read/29165716/targeting-bcr-abl-independent-tki-resistance-in-chronic-myeloid-leukemia-by-mtor-and-autophagy-inhibition
#8
Rebecca Mitchell, Lisa E M Hopcroft, Pablo Baquero, Elaine K Allan, Kay Hewit, Daniel James, Graham Hamilton, Arunima Mukhopadhyay, Jim O'Prey, Alan Hair, Junia V Melo, Edmond Chan, Kevin M Ryan, Véronique Maguer-Satta, Brian J Druker, Richard E Clark, Subir Mitra, Pawel Herzyk, Franck E Nicolini, Paolo Salomoni, G Vignir Helgason
Background: Imatinib and second-generation tyrosine kinase inhibitors (TKIs) nilotinib and dasatinib have statistically significantly improved the life expectancy of chronic myeloid leukemia (CML) patients; however, resistance to TKIs remains a major clinical challenge. Although ponatinib, a third-generation TKI, improves outcomes for patients with BCR-ABL-dependent mechanisms of resistance, including the T315I mutation, a proportion of patients may have or develop BCR-ABL-independent resistance and fail ponatinib treatment...
November 20, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29165687/investigation-of-the-relationship-between-radiation-dose-and-gene-mutations-and-fusions-in-post-chernobyl-thyroid-cancer
#9
Alexey A Efanov, Alina V Brenner, Tetiana I Bogdanova, Lindsey M Kelly, Pengyuan Liu, Mark P Little, Abigail I Wald, Maureen Hatch, Liudmyla Y Zurnadzy, Marina N Nikiforova, Vladimir Drozdovitch, Kiyohiko Mabuchi, Mykola D Tronko, Stephen J Chanock, Yuri E Nikiforov
Background: Exposure to ionizing radiation during childhood is a well-established risk factor for thyroid cancer. However, the genetic mechanisms of radiation-associated carcinogenesis remain not fully understood. Methods: In this study, we used targeted next-generation sequencing and RNA-Seq to study 65 papillary thyroid cancers (PTCs) from patients in the Ukrainian-American cohort with measurement-based iodine-131 (I-131) thyroid doses received as a result of the Chernobyl accident...
November 18, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29165667/braf-v600e-mutation-assisted-risk-stratification-of-solitary-intrathyroidal-papillary-thyroid-cancer-for-precision-treatment
#10
Yueye Huang, Shen Qu, Guangwu Zhu, Fei Wang, Rengyun Liu, Xiaopei Shen, David Viola, Rossella Elisei, Efisio Puxeddu, Laura Fugazzola, Carla Colombo, Barbara Jarzab, Agnieszka Czarniecka, Alfred K Lam, Caterina Mian, Federica Vianello, Linwah Yip, Garcilaso Riesco-Eizaguirre, Pilar Santisteban, Christine J O'Neill, Mingzhao Xing, Mark S Sywak, Roderick Clifton-Bligh, Bela Bendlova, Vlasta Sýkorová
Background: Precise risk stratification-based treatment of solitary intrathyroidal papillary thyroid cancer (SI-PTC) that is larger than 1.0 cm and 4.0 cm or less is undefined. Methods: A genetic-clinical risk study was performed on BRAF V600E in 955 patients (768 women and 187 men) with SI-PTC, with median age of 46 years and median clinical follow-up time of 64 months at 11 medical centers in six countries. The chi-square test or, for analyses with small numbers, Fisher's exact test was performed to compare recurrence rates...
November 18, 2017: Journal of the National Cancer Institute
https://www.readbyqxmd.com/read/29165569/preferential-usage-of-specific-immunoglobulin-heavy-chain-variable-region-genes-with-unmutated-profile-and-advanced-stage-at-presentation-are-common-features-in-patients-with-chronic-lymphocytic-leukemia-from-senegal
#11
Teresa Amato, Abibatou Sall, Tandakha NDiaye Dièye, Alessandro Gozzetti, Michele Iacono, Maria Raffaella Ambrosio, Massimo Granai, Serena Somma, Saliou Diop, Awa Oumar Touré, Evelyne May, Charles Henry Gattiollat, Joëlle Wiels, Yonis Ahmed, Martine Raphael, Lorenzo Leoncini, Cristiana Bellan, Pier Paolo Piccaluga
Objectives: Chronic lymphocytic leukemia (CLL) is the most common type of leukemia in Western populations, being rarer in Asian and African people. It has been suggested that patients with CLL from Africa might have a more aggressive disease compared with white patients. In this study, we aimed to identify genetic factors that may account for this difference. Methods: We analyzed immunoglobulin heavy chain (IGH) genes' mutational status by performing next-generation sequencing in 25 Senegalese and 50 Italian patients with CLL...
November 20, 2017: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29165417/-pterygium-etiology-pathogenesis-treatment
#12
S A Malozhen, S V Trufanov, D A Krakhmaleva
Pterygium is a degenerative condition characterized by fibrovascular outgrowth of conjunctiva over the cornea. Many theories exist that try to explain its pathogenesis. The current belief is that this disease is multifactorial with ultraviolet radiation being the most important trigger. Attention is also paid to such factors as tear film changes, cytokines and growth factors disbalance, immunologic disturbances, genetic mutations, and viral infections. Modern classifications consider the rate of fibrovascular growth, its progressive potential, and histological features...
2017: Vestnik Oftalmologii
https://www.readbyqxmd.com/read/29165379/role-of-non-coding-rnas-in-the-etiology-of-bladder-cancer
#13
REVIEW
Caterina Gulìa, Stefano Baldassarra, Fabrizio Signore, Giuliano Rigon, Valerio Pizzuti, Marco Gaffi, Vito Briganti, Alessandro Porrello, Roberto Piergentili
According to data of the International Agency for Research on Cancer and the World Health Organization (Cancer Incidence in Five Continents, GLOBOCAN, and the World Health Organization Mortality), bladder is among the top ten body locations of cancer globally, with the highest incidence rates reported in Southern and Western Europe, North America, Northern Africa and Western Asia. Males (M) are more vulnerable to this disease than females (F), despite ample frequency variations in different countries, with a M:F ratio of 4...
November 22, 2017: Genes
https://www.readbyqxmd.com/read/29165358/understanding-the-molecular-genetics-of-basal-cell-carcinoma
#14
REVIEW
Cristina Pellegrini, Maria Giovanna Maturo, Lucia Di Nardo, Valeria Ciciarelli, Carlota Gutiérrez García-Rodrigo, Maria Concetta Fargnoli
Basal cell carcinoma (BCC) is the most common human cancer and represents a growing public health care problem. Several tumor suppressor genes and proto-oncogenes have been implicated in BCC pathogenesis, including the key components of the Hedgehog pathway, PTCH1 and SMO, the TP53 tumor suppressor, and members of the RAS proto-oncogene family. Aberrant activation of the Hedgehog pathway represents the molecular driver in basal cell carcinoma pathogenesis, with the majority of BCCs carrying somatic point mutations, mainly ultraviolet (UV)-induced, and/or copy-loss of heterozygosis in the PTCH1 gene...
November 22, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29165333/pressure-for-pattern-specific-intertypic-recombination-between-sabin-polioviruses-evolutionary-implications
#15
Ekaterina Korotkova, Majid Laassri, Tatiana Zagorodnyaya, Svetlana Petrovskaya, Elvira Rodionova, Elena Cherkasova, Anatoly Gmyl, Olga E Ivanova, Tatyana P Eremeeva, Galina Y Lipskaya, Vadim I Agol, Konstantin Chumakov
Complete genomic sequences of a non-redundant set of 70 recombinants between three serotypes of attenuated Sabin polioviruses as well as location (based on partial sequencing) of crossover sites of 28 additional recombinants were determined and compared with the previously published data. It is demonstrated that the genomes of Sabin viruses contain distinct strain-specific segments that are eliminated by recombination. The presumed low fitness of these segments could be linked to mutations acquired upon derivation of the vaccine strains and/or may have been present in wild-type parents of Sabin viruses...
November 22, 2017: Viruses
https://www.readbyqxmd.com/read/29164969/accuracy-of-self-reported-family-history-of-cancer-mutation-status-and-tumor-characteristics-in-patients-with-early-onset-breast-cancer
#16
Annelie Augustinsson, Carolina Ellberg, Ulf Kristoffersson, Åke Borg, Håkan Olsson
BACKGROUND: The main objectives of this study were to evaluate the concordance between self-reported and registry-reported information regarding family history of breast cancer (BC), ovarian cancer (OvC) and other types of cancer in first-degree relatives of patients with early onset BC, and to determine the frequency of mutation carriers and non-mutation carriers. The secondary objective was to describe tumor characteristics for each mutation group. MATERIAL AND METHODS: Between 1993 and 2013, 231 women who were ≤35 years old when diagnosed with BC were registered at the Oncogenetic Clinic at Skåne University Hospital in Lund, Sweden...
November 22, 2017: Acta Oncologica
https://www.readbyqxmd.com/read/29164808/a-universal-approach-to-correct-various-hbb-gene-mutations-in-human-stem-cells-for-gene-therapy-of-beta-thalassemia-and-sickle-cell-disease
#17
Liuhong Cai, Hao Bai, Vasiliki Mahairaki, Yongxing Gao, Chaoxia He, Yanfei Wen, You-Chuan Jin, You Wang, Rachel L Pan, Armaan Qasba, Zhaohui Ye, Linzhao Cheng
Beta-thalassemia is one of the most common recessive genetic diseases, caused by mutations in the HBB gene. Over 200 different types of mutations in the HBB gene containing three exons have been identified in patients with β-thalassemia (β-thal) whereas a homozygous mutation in exon 1 causes sickle cell disease (SCD). Novel therapeutic strategies to permanently correct the HBB mutation in stem cells that are able to expand and differentiate into erythrocytes producing corrected HBB proteins are highly desirable...
November 21, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/29164703/clinicopathological-characteristics-of-patients-with-upper-urinary-tract-urothelial-cancer-with-loss-of-immunohistochemical-expression-of-the-dna-mismatch-repair-proteins-in-universal-screening
#18
Shinji Urakami, Naoko Inoshita, Suguru Oka, Yu Miyama, Sachio Nomura, Masami Arai, Kazushige Sakaguchi, Kazuhiro Kurosawa, Toshikazu Okaneya
OBJECTIVES: To assess the detection rate of putative Lynch syndrome-associated upper urinary tract urothelial cancer among all upper urinary tract urothelial cancers and to examine its clinicopathological characteristics. METHODS: A total of 143 patients with upper urinary tract urothelial cancer who had received total nephroureterectomy were immunohistochemically stained for the expression of mismatch repair proteins MLH1, PMS2, MSH2 and MSH6. For all suspected mismatch repair-deficient cases, MMR genetic testing was recommended and clinicopathological features were examined...
November 22, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/29164420/brcasearch-written-pre-test-information-and-brca1-2-germline-mutation-testing-in-unselected-patients-with-newly-diagnosed-breast-cancer
#19
Martin P Nilsson, Therese Törngren, Karin Henriksson, Ulf Kristoffersson, Anders Kvist, Barbro Silfverberg, Åke Borg, Niklas Loman
PURPOSE: To evaluate a simplified method of pre-test information and germline BRCA1/2 mutation testing. METHODS: In a prospective, single-arm study, comprehensive BRCA1/2 testing was offered to unselected patients with newly diagnosed breast cancer at three hospitals in south Sweden (BRCAsearch, ClinicalTrials.gov Identifier: NCT02557776). Pre-test information was provided by a standardized invitation letter, but the patients could contact a genetic counselor for telephone genetic counseling if they felt a need for that...
November 21, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/29164309/pathologic-diagnosis-and-genetic-analysis-of-a-lung-tumor-needle-biopsy-specimen-obtained-immediately-after-radiofrequency-ablation
#20
Takaaki Hasegawa, Chiaki Kondo, Yozo Sato, Yoshitaka Inaba, Hidekazu Yamaura, Mina Kato, Shinichi Murata, Yui Onoda, Hiroaki Kuroda, Yukinori Sakao, Yasushi Yatabe
PURPOSE: To evaluate the possibility of pathologic diagnosis and genetic analysis of percutaneous core-needle biopsy (CNB) lung tumor specimens obtained immediately after radiofrequency ablation (RFA). MATERIALS AND METHODS: Patients who underwent CNB of lung tumors immediately after RFA from May 2013 to May 2016 were analyzed. There were 19 patients (8 men and 11 women; median age, 69 years; range, 52-88 years) and 19 lung tumors measuring 0.5-2.6 cm (median, 1...
November 21, 2017: Cardiovascular and Interventional Radiology
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