keyword
MENU ▼
Read by QxMD icon Read
search

Mutational load

keyword
https://www.readbyqxmd.com/read/28738127/early-onset-alzheimer-disease-and-candidate-risk-genes-involved-in-endolysosomal-transport
#1
Brian W Kunkle, Badri N Vardarajan, Adam C Naj, Patrice L Whitehead, Sophie Rolati, Susan Slifer, Regina M Carney, Michael L Cuccaro, Jeffery M Vance, John R Gilbert, Li-San Wang, Lindsay A Farrer, Christiane Reitz, Jonathan L Haines, Gary W Beecham, Eden R Martin, Gerard D Schellenberg, Richard P Mayeux, Margaret A Pericak-Vance
Importance: Mutations in APP, PSEN1, and PSEN2 lead to early-onset Alzheimer disease (EOAD) but account for only approximately 11% of EOAD overall, leaving most of the genetic risk for the most severe form of Alzheimer disease unexplained. This extreme phenotype likely harbors highly penetrant risk variants, making it primed for discovery of novel risk genes and pathways for AD. Objective: To search for rare variants contributing to the risk for EOAD. Design, Setting, and Participants: In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants...
July 24, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28733852/wax-crystal-sparse-leaf-4-encoding-a-%C3%AE-ketoacyl-coenzyme-a-synthase-6-is-involved-in-rice-cuticular-wax-accumulation
#2
Lu Gan, Shanshan Zhu, Zhichao Zhao, Linglong Liu, Xiaole Wang, Zhe Zhang, Xin Zhang, Jie Wang, Jiulin Wang, Xiuping Guo, Jianmin Wan
WSL4 encodes a KCS6 protein which is required for cuticular wax accumulation in rice. Very long chain fatty acids (VLCFAs) are essential precursors for cuticular wax biosynthesis. VLCFA biosynthesis occurs in the endoplasmic reticulum and requires the fatty acid elongase (FAE) complex. The β-ketoacyl-coenzyme A synthase (KCS) catalyzes the first step of FAE-mediated VLCFA elongation. Here we characterized the Wax Crystal-Sparse Leaf 4 (WSL4) gene involved in leaf cuticular wax accumulation in rice. The wsl4 mutant displayed a pleiotropic phenotype including dwarfism, less tiller numbers and reduced surface wax load...
July 21, 2017: Plant Cell Reports
https://www.readbyqxmd.com/read/28731907/oral-nucleos-t-ide-analogs-alone-after-liver-transplantation-in-chronic-hepatitis-b-with-preexisting-rt204-mutation
#3
James Fung, Tiffany Wong, Kenneth Chok, Albert Chan, Sui-Ling Sin, Tan-To Cheung, Wing-Chiu Dai, Kelvin Ng, Kevin Ng, Kwan Man, Wai-Kay Seto, Ching-Lung Lai, Man-Fung Yuen, Chung-Mau Lo
BACKGROUND: There is currently limited data regarding the use of oral antiviral therapy alone without HBIG for CHB patients with preexisting LAM-resistance (LAM-R) undergoing liver transplantation. METHODS: This is a cohort study determining the effectiveness and long-term outcome in this group of patients. RESULTS: Fifty-seven consecutive CHB patients with preexisting rt204 LAM-R mutations or virological load refractory to LAM undergoing liver transplantation were included, with a median follow-up of 73 months...
July 21, 2017: Transplantation
https://www.readbyqxmd.com/read/28727795/effect-of-therapy-switch-on-time-to-second-line-antiretroviral-treatment-failure-in-hiv-infected-patients
#4
Amanda Häggblom, Michele Santacatterina, Ujjwal Neogi, Magnus Gisslen, Bo Hejdeman, Leo Flamholc, Anders Sönnerborg
BACKGROUND: Switch from first line antiretroviral therapy (ART) to second-line ART is common in clinical practice. However, there is limited knowledge of to which extent different reason for therapy switch are associated with differences in long-term consequences and sustainability of the second line ART. MATERIAL AND METHODS: Data from 869 patients with 14601 clinical visits between 1999-2014 were derived from the national cohort database. Reason for therapy switch and viral load (VL) levels at first-line ART failure were compared with regard to outcome of second line ART...
2017: PloS One
https://www.readbyqxmd.com/read/28726535/mismatch-repair-deficient-metastatic-colon-cancer-and-urothelial-cancer-a-case-report-of-sequential-immune-checkpoint-therapy
#5
Pooja Ghatalia, Rajeswari Nagarathinam, Harry Cooper, Daniel M Geynisman, Wafik S El-Deiry
A major recent advance in cancer therapy involves the use of immune checkpoint therapy for tumors with mismatch repair deficiency, as they have a high tumor mutation load and neoantigen burden. Approximately 4% of advanced colorectal cancer harbors a mismatch repair deficiency. When mismatch repair deficiency exists in the germline, there is increased susceptibility to a variety of cancers including colorectal cancer, uterine cancer, urothelial carcinoma, and skin cancer. Herein we report the case of a 62-year-old man with mismatch repair deficient metastatic colorectal adenocarcinoma, urothelial carcinoma and a history of sebaceous carcinomas...
July 20, 2017: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/28724958/viral-driven-epigenetic-events-alter-the-expression-of-cancer-related-genes-in-epstein-barr-virus-naturally-infected-burkitt-lymphoma-cell-lines
#6
Hector Hernandez-Vargas, Henri Gruffat, Marie Pierre Cros, Audrey Diederichs, Cécilia Sirand, Romina C Vargas-Ayala, Antonin Jay, Geoffroy Durand, Florence Le Calvez-Kelm, Zdenko Herceg, Evelyne Manet, Christopher P Wild, Massimo Tommasino, Rosita Accardi
Epstein-Barr virus (EBV) was identified as the first human virus to be associated with a human malignancy, Burkitt's lymphoma (BL), a pediatric cancer endemic in sub-Saharan Africa. The exact mechanism of how EBV contributes to the process of lymphomagenesis is not fully understood. Recent studies have highlighted a genetic difference between endemic (EBV+) and sporadic (EBV-) BL, with the endemic variant showing a lower somatic mutation load, which suggests the involvement of an alternative virally-driven process of transformation in the pathogenesis of endemic BL...
July 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28723886/prolonged-viral-replication-and-longitudinal-viral-dynamic-differences-among-respiratory-syncytial-virus-rsv-infected-infants
#7
Monica E Brint, Joshua M Hughes, Aditya Shah, Chelsea R Miller, Lisa G Harrison, Elizabeth A Meals, Jacqueline Blanch, Charlotte R Thompson, Stephania A Cormier, John P DeVincenzo
BACKGROUND: Longitudinal RSV dynamics have not been well-studied despite existence of factors favoring prolonged RSV replication including: high mutation rates allowing rapid evolution and potential escape from immune control. We therefore measured viral load in previously RSV-naïve infants over prolonged time-spans. METHODS: During 2014-2015, quantitative nasal aspirates were collected from 51 RSV-PCR+ infants. Multiple parallel assessments of viral loads were quantified at each collected time point using a well-validated real-time qRT-PCR assay...
July 19, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28723478/low-t-cell-receptor-diversity-high-somatic-mutation-burden-and-high-neoantigen-load-as-predictors-of-clinical-outcome-in-muscle-invasive-bladder-cancer
#8
Noura J Choudhury, Kazuma Kiyotani, Kai Lee Yap, Alexa Campanile, Tatjana Antic, Poh Yin Yew, Gary Steinberg, Jae Hyun Park, Yusuke Nakamura, Peter H O'Donnell
BACKGROUND: The success of cancer immunotherapies has highlighted the potent ability of local adaptive immune responses to eradicate cancer cells by targeting neoantigens generated by somatic alterations. However, how these factors interact to drive the natural history of muscle-invasive bladder cancer (MIBC) is not well understood. OBJECTIVE: To investigate the role of immune regulation in MIBC disease progression, we performed massively parallel T-cell receptor (TCR) sequencing of tumor-infiltrating T cells (TILs), in silico neoantigen prediction from exome sequences, and expression analysis of immune-related genes...
October 2016: European Urology Focus
https://www.readbyqxmd.com/read/28721808/molecular-tests-for-the-choice-of-cancer-therapy
#9
Anna P Sokolenko, Evgeny N Imyanitov
There are over a dozen of approved cancer drugs, whose administration is tailored to predictive laboratory tests. The examples include estrogen and progesterone receptor status determination for the use of endocrine therapy, HER2 assessment for the administration of HER2-targeting agents, EGFR and ALK gene testing for lung cancer treatment, BRAF analysis in melanoma, etc. While first predictive tests relied on relatively easy laboratory procedures, more recent developments require rather sophisticated assays...
July 19, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28721032/-11-c-pib-pet-imaging-reveals-that-amyloid-deposition-in-cases-with-early-onset-alzheimer-s-disease-in-the-absence-of-known-mutations-retains-higher-levels-of-pib-in-the-basal-ganglia
#10
Young Chul Youn, Jae-Won Jang, Su-Hyun Han, HyeRyoun Kim, Ju-Won Seok, Jun Soo Byun, Kwang-Yeol Park, Seong Soo A An, In Kook Chun, SangYun Kim
PURPOSE: Early-onset Alzheimer's disease (EOAD) has a different pathologic burden and clinical features compared with late-onset Alzheimer's disease (LOAD). We examined the effects of age at onset on the burden and distribution of β-amyloid in patients with EOAD, in whom well-characterized mutations associated with Alzheimer's disease were absent. METHODS: We genotyped ApoE, APP, PSEN1 and PSEN2 in the patients with Alzheimer's disease: 9 patients with EOAD (age <65), 11 with LOAD (age >70) and 8 normal controls (NCs), all of whom had undergone (11)C-labeled Pittsburgh compound B-positron emission tomography imaging...
2017: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/28720798/neuroprotective-effect-of-5-aminolevulinic-acid-against-low-inorganic-phosphate-in-neuroblastoma-sh-sy5y-cells
#11
Naoko Takase, Masatoshi Inden, Shin-Ichiro Sekine, Yumi Ishii, Hiroko Yonemitsu, Wakana Iwashita, Hisaka Kurita, Yutaka Taketani, Isao Hozumi
PiT-1 (encoded by SLC20A1) and PiT-2 (encoded by SLC20A2) are type-III sodium-dependent phosphate cotransporters (NaPiTs). Recently, SLC20A2 mutations have been found in patients with idiopathic basal ganglia calcification (IBGC), and were predicted to bring about an inability to transport Pi from the extracellular environment. Here we investigated the effect of low Pi loading on the human neuroblastoma SH-SY5Y and the human glioblastoma A172 cell lines. The results show a different sensitivity to low Pi loading and differential regulation of type-III NaPiTs in these cells...
July 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28716227/mitochondrial-trna-genes-are-hotspots-for-mutations-in-a-cohort-of-patients-with-exercise-intolerance-and-mitochondrial-myopathy
#12
Yuanyuan Lu, Danhua Zhao, Sheng Yao, Shiwen Wu, Daojun Hong, Qingqing Wang, Jing Liu, Jan A M Smeitink, Yun Yuan, Zhaoxia Wang
OBJECTIVE: Mitochondrial myopathy (MM) is a relatively rare type of mitochondrial disorder characterized by predominant skeletal muscle involvement. Both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) mutations have been reported as the genetic causes of this disease. Here, we described the clinical and genetic features of a cohort of patients with MM. METHODS: We conducted a retrospective, single center study enrolling 22 patients with clinically and myopathologically diagnosed MM...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28714931/correlation-between-oxidative-stress-nutrition-and-cancer-initiation
#13
REVIEW
Subbroto Kumar Saha, Soo Bin Lee, Jihye Won, Hye Yeon Choi, Kyeongseok Kim, Gwang-Mo Yang, Ahmed Abdal Dayem, Ssang-Goo Cho
Inadequate or excessive nutrient consumption leads to oxidative stress, which may disrupt oxidative homeostasis, activate a cascade of molecular pathways, and alter the metabolic status of various tissues. Several foods and consumption patterns have been associated with various cancers and approximately 30-35% of the cancer cases are correlated with overnutrition or malnutrition. However, several contradictory studies are available regarding the association between diet and cancer risk, which remains to be elucidated...
July 17, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28710314/sarcomatoid-renal-cell-carcinoma-has-a-distinct-molecular-pathogenesis-driver-mutation-profile-and-transcriptional-landscape
#14
Zixing Wang, Tae Beom Kim, Bo Peng, Jose A Karam, Chad J Creighton, Aron Y Joon, Fumi Kawakami, Patricia Trevisan, Eric Jonasch, Chi-Wan Chow, Jaime Rodriguez-Canales, Pheroze Tamboli, Nizar M Tannir, Christopher G Wood, Federico A Monzon, Keith A Baggerly, Marileila Varella-Garcia, Bogdan Czerniak, Ignacio I Wistuba, Gordon B Mills, Kenna Shaw, Ken Chen, Kanishka Sircar
Sarcomatoid renal cell carcinoma (SRCC) ranks among the most aggressive clinicopathologic phenotypes of RCC. However, the paucity of high-quality, genome-wide molecular examinations of SRCC has hindered our understanding of this entity.<br /><br />Experimental Design: We interrogated the mutational, copy number, and transcriptional characteristics of SRCC and compared these data with those of non-sarcomatoid RCC (RCC). We evaluated whole exome sequencing, single nucleotide polymorphism, and RNA sequencing data from patients with SRCC (n=65) and RCC (n=598) across different parent RCC subtypes, including clear cell RCC, papillary RCC, and chromophobe RCC subtypes...
July 14, 2017: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/28709460/semi-quantitative-influenza-a-population-averages-from-a-multiplex-respiratory-viral-panel-rvp-potential-for-reflecting-target-sequence-changes-affecting-the-assay
#15
Kenneth H Rand, Maura Pieretti, Rodney Arcenas, Stacy G Beal, Herbert Houck, Emma Boslet, John A Lednicky
BACKGROUND: Yearly influenza virus mutations potentially affect the performance of molecular assays, if nucleic acid changes involve the sequences in the assay. Because individual patient viral loads depend on variables such as duration of illness, specimen type, age, and immunosuppression, we examined seasonal population averages of positive tests to smooth inherent variability. METHODS: We studied the population seasonal averages of the semi-quantitative nAMPs for the influenza matrix and hemagglutinin genes in the GenMark (Carlsbad, CA) Respiratory Viral Panel assay between 3 institutions over 3 Influenza seasons...
July 14, 2017: Virology Journal
https://www.readbyqxmd.com/read/28707600/a-new-potent-ns5a-inhibitor-in-the-management-of-hepatitis-c-virus-ravidasvir
#16
Enas Hafez, Tamer Elbaz, Mohamed El Kassas, Gamal Esmat
Background: Chronic hepatitis C virus (HCV) is a worldwide health problem that can lead to liver cirrhosis, liver cell failure and numerous subsequent complications such as hepatocellular carcinoma. Till the near past, pegylated interferon was the standard of care therapy. However, it was associated with suboptimal success rates and many side effects. Thereafter, direct antiviral agents (DAA) appeared and played the key role in management of HCV. One of those recent DAA is ravidasvir. Summary: It is a potent NS5A inhibitor that was formerly known as PPI-668...
July 13, 2017: Current Drug Discovery Technologies
https://www.readbyqxmd.com/read/28707069/variants-in-the-prpf8-gene-are-associated-with-glaucoma
#17
Shazia Micheal, Barend F Hogewind, Muhammad Imran Khan, Sorath Noorani Siddiqui, Saemah Nuzhat Zafar, Farah Akhtar, Raheel Qamar, Carel B Hoyng, Anneke I den Hollander
Glaucoma is the cause of irreversible blindness worldwide. Mutations in six genes have been associated with juvenile- and adult-onset familial primary open angle glaucoma (POAG) prior to this report but they explain only a small proportion of the genetic load. The aim of the study is to identify the novel genetic cause of the POAG in the families with adult-onset glaucoma. Whole exome sequencing (WES) was performed on DNA of two affected individuals, and predicted pathogenic variants were evaluated for segregation in four affected and three unaffected Dutch family members by Sanger sequencing...
July 13, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28706143/integrated-analysis-of-somatic-mutations-and-immune-microenvironment-of-multiple-regions-in-breast-cancers
#18
Taigo Kato, Jae-Hyun Park, Kazuma Kiyotani, Yuji Ikeda, Yasuo Miyoshi, Yusuke Nakamura
Next-generation sequencing technology enables us to analyze the complexity of intra- and inter-tumoral heterogeneity, which may influence to prognosis of cancer patients. In this study, we collected surgically-resected tumor tissues from five breast cancer patients and characterized three different portions of individual tumors through somatic mutation analysis by whole exome sequencing, T cell receptor beta (TCRB) repertoire analysis of tumor-infiltrating lymphocytes (TILs), and the expression analysis of immune-related genes at 15 different sites...
June 28, 2017: Oncotarget
https://www.readbyqxmd.com/read/28701419/proviral-features-of-human-t-cell-leukemia-virus-type-1-in-carriers-with-indeterminate-western-blot-results
#19
Madoka Kuramitsu, Tsuyoshi Sekizuka, Tadanori Yamochi, Sanaz Firouzi, Tomoo Sato, Kazumi Umeki, Daisuke Sasaki, Hiroo Hasegawa, Ryuji Kubota, Rieko Sobata, Chieko Matsumoto, Noriaki Kaneko, Haruka Momose, Kumiko Araki, Masumichi Saito, Kisato Nosaka, Atae Utsunomiya, Ki-Ryang Koh, Masao Ogata, Kaoru Uchimaru, Masako Iwanaga, Yasuko Sagara, Yoshihisa Yamano, Akihiko Okayama, Kiyonori Miura, Masahiro Satake, Shigeru Saito, Kazuo Itabashi, Kazunari Yamaguchi, Makoto Kuroda, Toshiki Watanabe, Kazu Okuma, Isao Hamaguchi
Western blot (WB) for human T cell leukemia virus type 1 is performed to confirm anti-HTLV-1 antibodies detected at the initial screening of blood donors and in pregnant women. However, the frequent occurrence of indeterminate results is a problem with this test. We therefore assessed the cause of WB-indeterminate results by analyzing the genomic sequences of HTLV-1 provirus. Quantitative PCR measuring HTLV-1 provirus in WB-indeterminate samples revealed that the median proviral load was approximately 100-fold lower than that of WB-positive samples (0...
July 12, 2017: Journal of Clinical Microbiology
https://www.readbyqxmd.com/read/28700046/association-between-tgf%C3%AE-1-polymorphisms-and-chronic-hepatitis-b-infection-in-an-iranian-population
#20
Ebrahim Eskandari, Malihe Metanat, Elham Pahlevani, Tooba Nakhzari-Khodakheir
INTRODUCTION: Transforming growth factor-beta 1 (TGFβ1) is a potent suppressive cytokine that contributes to chronic hepatitis B (CHB) infection. Disparities in TGFβ1 production among individuals have been attributed to TGFβ1 genetic polymorphisms. We examined whether three putative polymorphisms in TGFβ1[-509 C/T (rs1800469), +869 C/T (rs1800470), and +11929 C/T (rs1800472)]are associated with CHB infection in a South-Eastern Iranian population. METHODS: In total, 341 subjects were recruited, including 178 patients with CHB and 163 healthy individuals as controls...
May 2017: Revista da Sociedade Brasileira de Medicina Tropical
keyword
keyword
101882
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"