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https://www.readbyqxmd.com/read/29785007/characterization-and-prevalence-of-two-novel-chek2-large-deletions-in-greek-breast-cancer-patients
#1
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/29778561/severe-xanthomatosis-in-heterozygous-familial-hypercholesterolemia
#2
Sumayah Aljenedil, Isabelle Ruel, Kevin Watters, Jacques Genest
BACKGROUND: Familial hypercholesterolemia is a genetic lipoprotein disorder characterized by elevated plasma low-density lipoprotein cholesterol level, (tendinous xanthomas, xanthelasmas, and premature arcus corneus) and early onset atherosclerotic cardiovascular disease. Familial hypercholesterolemia is caused by mutations in the low-density lipoprotein receptor, apolipoprotein B or proprotein convertase subtilisin/kexin type 9 genes. Rare mutations in low-density lipoprotein receptor adapter protein 1, APOE p...
April 3, 2018: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/29765018/tracking-hiv-1-recombination-to-resolve-its-contribution-to-hiv-1-evolution-in-natural-infection
#3
Hongshuo Song, Elena E Giorgi, Vitaly V Ganusov, Fangping Cai, Gayathri Athreya, Hyejin Yoon, Oana Carja, Bhavna Hora, Peter Hraber, Ethan Romero-Severson, Chunlai Jiang, Xiaojun Li, Shuyi Wang, Hui Li, Jesus F Salazar-Gonzalez, Maria G Salazar, Nilu Goonetilleke, Brandon F Keele, David C Montefiori, Myron S Cohen, George M Shaw, Beatrice H Hahn, Andrew J McMichael, Barton F Haynes, Bette Korber, Tanmoy Bhattacharya, Feng Gao
Recombination in HIV-1 is well documented, but its importance in the low-diversity setting of within-host diversification is less understood. Here we develop a novel computational tool (RAPR (Recombination Analysis PRogram)) to enable a detailed view of in vivo viral recombination during early infection, and we apply it to near-full-length HIV-1 genome sequences from longitudinal samples. Recombinant genomes rapidly replace transmitted/founder (T/F) lineages, with a median half-time of 27 days, increasing the genetic complexity of the viral population...
May 15, 2018: Nature Communications
https://www.readbyqxmd.com/read/29764119/founder-mutations-for-early-onset-melanoma-as-revealed-by-whole-exome-sequencing-suggests-that-this-is-not-associated-with-the-increasing-incidence-of-melanoma-in-poland
#4
Tadeusz Dębniak, Rodney J Scott, Rodney A Lea, Bohdan Górski, Bartłomiej Masojć, Cezary Cybulski, Andrzej Kram, Romuald Maleszka, Tomasz Gromowski, Katarzyna Paszkowska-Szczur, Aniruddh Kashyap, Marcin R Lener, Karolina Malińska, Emilia Rogoża, Dawid Murawa, Helena Rudnicka, Jakub Deptuła, Jan Lubiński
Purpose: Germline mutations within melanoma susceptibility genes are present only in minority of melanoma patients and it is expected that additional genes will be discovered with next generation sequence technology and whole-exome sequencing. Material and Methods: Herein we performed whole-exome sequencing (WES) on a cohort of 96 unrelated Polish patients with melanoma diagnosed under the age of 40 years who all screened negative for the presence of CDKN2A-variants...
May 14, 2018: Cancer Research and Treatment: Official Journal of Korean Cancer Association
https://www.readbyqxmd.com/read/29759638/a-new-case-of-limb-girdle-muscular-dystrophy-2g-in-a-greek-patient-founder-effect-and-review-of-the-literature
#5
Roberta Brusa, Francesca Magri, Dimitra Papadimitriou, Alessandra Govoni, Roberto Del Bo, Patrizia Ciscato, Marco Savarese, Claudia Cinnante, Maggie C Walter, Angela Abicht, Stefanie Bulst, Stefania Corti, Maurizio Moggio, Nereo Bresolin, Vincenzo Nigro, Giacomo Pietro Comi
Limb girdle muscular dystrophy (LGMD) type 2G is a rare form of muscle disease, described only in a few patients worldwide, caused by mutations in TCAP gene, encoding the protein telethonin. It is characterised by proximal limb muscle weakness associated with distal involvement of lower limbs, starting in the first or second decade of life. We describe the case of a 37-year-old woman of Greek origin, affected by disto-proximal lower limb weakness. No cardiac or respiratory involvement was detected. Muscle biopsy showed myopathic changes with type I fibre hypotrophy, cytoplasmic vacuoles, lipid overload, multiple central nuclei and fibre splittings; ultrastructural examination showed metabolic abnormalities...
April 13, 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29758076/high-throughput-generation-and-characterization-of-replication-competent-clade-c-transmitter-founder-simian-human-immunodeficiency-viruses
#6
Debashis Dutta, Samuel Johnson, Alisha Dalal, Martin J Deymier, Eric Hunter, Siddappa N Byrareddy
Traditional restriction endonuclease-based cloning has been routinely used to generate replication-competent simian-human immunodeficiency viruses (SHIV) and simian tropic HIV (stHIV). This approach requires the existence of suitable restriction sites or the introduction of nucleotide changes to create them. Here, using an In-Fusion cloning technique that involves homologous recombination, we generated SHIVs and stHIVs based on epidemiologically linked clade C transmitted/founder HIV molecular clones from Zambia...
2018: PloS One
https://www.readbyqxmd.com/read/29749107/mutation-analysis-of-the-pah-gene-in-phenylketonuria-patients-from-rio-de-janeiro-southeast-brazil
#7
Eduardo Vieira Neto, Francisco Laranjeira, Dulce Quelhas, Isaura Ribeiro, Alexandre Seabra, Nicole Mineiro, Lilian D M Carvalho, Lúcia Lacerda, Márcia G Ribeiro
BACKGROUND: Phenylketonuria (PKU) is an autosomal recessive disease resulting from mutations in the PAH gene. Most of the patients are compound heterozygotes, and genotype is a major factor in determining the phenotypic variability of PKU. More than 1,000 variants have been described in the PAH gene. Rio de Janeiro's population has a predominance of Iberian, followed by African and Amerindian ancestries. It is expected that most PKU variants in this Brazilian state have originated in the Iberian Peninsula...
May 10, 2018: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29744787/ada-deficiency-evaluation-of-the-clinical-and-laboratory-features-and-the-outcome
#8
Deniz Cagdas, Pınar Gur Cetinkaya, Betül Karaatmaca, Saliha Esenboga, Cagman Tan, Togay Yılmaz, Ersin Gümüş, Safa Barış, Barış Kuşkonmaz, Tuba Turul Ozgur, Pawan Bali, Ines Santisteban, Diclehan Orhan, Aysel Yüce, Duygu Cetinkaya, Kaan Boztug, Michael Hershfield, Ozden Sanal, İlhan Tezcan
INTRODUCTION: Adenosine deaminase (ADA) deficiency is an autosomal recessive primary immunodeficiency. It results in the intracellular accumulation of toxic metabolites which have effects particularly on lymphocytes and the brain. The aim of this study was to evaluate the outcome of 13 ADA-deficient patients. We planned to evaluate their clinical and laboratory findings before and after enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (aHSCT), and hematopoietic stem cell gene therapy (HSCGT)...
May 9, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29738605/keratin-4-regulates-the-development-of-human-white-sponge-nevus
#9
Jianming Zhang, Jingjing Quan, Yongyuan Ren, Mengshan Chen, Jie Yang, Xu Zhang
BACKGROUND: The aim of this study was to investigate the roles of keratin 4 (KRT4) gene in the development of human white sponge nevus (WSN). METHODS: Transgenic mice were created using the microinjection method with pcDNA3.1 vectors expressing KRT4 wild-type (WT) gene and E520K mutation. Polymerase chain reaction (PCR) and western blotting were used to identify the genotype of transgenic founders and their filial generations. Expression of KRT4 in mouse oral mucosa was characterized by immunohistochemistry (IHC), and the whole epithelium layer of transgenic mice was observed by using transmission electron microscope (TEM)...
May 8, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29723101/breast-cancer-in-an-18-year-old-female-a-fatal-case-report-and-literature-review
#10
Maciej Jóźwik, Renata Posmyk, Marcin Jóźwik, Andrzej Semczuk, Magdalena Gogiel-Shields, Marta Kuś-Słowińska, Magdalena Garbowicz, Mark Klukowski, Jacek Wojciechowicz
Breast cancer (BC) is the most frequent malignancy in both pre- and postmenopausal women. However, it is exceedingly rare in very young patients, and especially in adolescents. Herein, we report a case of an 18-year-old female diagnosed with invasive BC. The proband had been found to be negative for BC in close family members. A common BC genetic screening test for the Polish population did not detect any known founder mutations in the BRCA1 gene. Further evaluation identified a p.Ile157Thr (I157T) mutation in the CHEK2 gene, a p...
May 3, 2018: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/29721912/a-middle-eastern-founder-mutation-expands-the-genotypic-and-phenotypic-spectrum-of-mitochondrial-micu1-deficiency-a-report-of-13-patients
#11
Sara Musa, Wafaa Eyaid, Kimberli Kamer, Rehab Ali, Mariam Al-Mureikhi, Noora Shahbeck, Fatma Al Mesaifri, Nawal Makhseed, Zakkiriah Mohamed, Wafaa Ali AlShehhi, Vamsi K Mootha, Jane Juusola, Tawfeg Ben-Omran
MICU1 encodes a Ca2+ sensing, regulatory subunit of the mitochondrial uniporter, a selective calcium channel within the organelle's inner membrane. Ca2+ entry into mitochondria helps to buffer cytosolic Ca2+ transients and also activates ATP production within the organelle. Mutations in MICU1 have previously been reported in 17 children from nine families with muscle weakness, fatigue, normal lactate, and persistently elevated creatine kinase, as well as variable features that include progressive extrapyramidal signs, learning disabilities, nystagmus, and cataracts...
May 3, 2018: JIMD Reports
https://www.readbyqxmd.com/read/29718149/a-common-co-morbidity-modulates-disease-expression-and-treatment-efficacy-in-inherited-cardiac-sodium-channelopathy
#12
Mathilde R Rivaud, John A Jansen, Pieter G Postema, Eline A Nannenberg, Yuka Mizusawa, Roel van der Nagel, Rianne Wolswinkel, Ingeborg van der Made, Gerard A Marchal, Sridharan Rajamani, Luiz Belardinelli, J Peter van Tintelen, Michael W T Tanck, Allard C van der Wal, Jacques M T de Bakker, Harold V van Rijen, Esther E Creemers, Arthur A M Wilde, Maarten P van den Berg, Toon A B van Veen, Connie R Bezzina, Carol Ann Remme
Aims: Management of patients with inherited cardiac ion channelopathy is hindered by variability in disease severity and sudden cardiac death (SCD) risk. Here, we investigated the modulatory role of hypertrophy on arrhythmia and SCD risk in sodium channelopathy. Methods and results: Follow-up data was collected from 164 individuals positive for the SCN5A-1795insD founder mutation and 247 mutation-negative relatives. A total of 38 (obligate) mutation-positive patients died suddenly or suffered life-threatening ventricular arrhythmia...
April 27, 2018: European Heart Journal
https://www.readbyqxmd.com/read/29686356/evolution-of-chalcone-isomerase-from-a-noncatalytic-ancestor
#13
Miriam Kaltenbach, Jason R Burke, Mirco Dindo, Anna Pabis, Fabian S Munsberg, Avigayel Rabin, Shina C L Kamerlin, Joseph P Noel, Dan S Tawfik
The emergence of catalysis in a noncatalytic protein scaffold is a rare, unexplored event. Chalcone isomerase (CHI), a key enzyme in plant flavonoid biosynthesis, is presumed to have evolved from a nonenzymatic ancestor related to the widely distributed fatty-acid binding proteins (FAPs) and a plant protein family with no isomerase activity (CHILs). Ancestral inference supported the evolution of CHI from a protein lacking isomerase activity. Further, we identified four alternative founder mutations, i.e., mutations that individually instated activity, including a mutation that is not phylogenetically traceable...
April 23, 2018: Nature Chemical Biology
https://www.readbyqxmd.com/read/29685658/novel-founder-intronic-variant-in-slc39a14-in-two-families-causing-manganism-and-potential-treatment-strategies
#14
Lance H Rodan, Marissa Hauptman, Alissa M D'Gama, Anita E Qualls, Siqi Cao, Karin Tuschl, Fatma Al-Jasmi, Jozef Hertecant, Susan J Hayflick, Marianne Wessling-Resnick, Edward T Yang, Gerard T Berry, Andrea Gropman, Alan D Woolf, Pankaj B Agrawal
Congenital disorders of manganese metabolism are rare occurrences in children, and medical management of these disorders is complex and challenging. Homozygous exonic mutations in the manganese transporter SLC39A14 have recently been associated with a pediatric-onset neurodegenerative disorder characterized by brain manganese accumulation and clinical signs of manganese neurotoxicity, including parkinsonism-dystonia. We performed whole exome sequencing on DNA samples from two unrelated female children from the United Arab Emirates with progressive movement disorder and brain mineralization, identified a novel homozygous intronic mutation in SLC39A14 in both children, and demonstrated that the mutation leads to aberrant splicing...
April 6, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29678421/growth-hormone-receptor-deficient-pigs-resemble-the-pathophysiology-of-human-laron-syndrome-and-reveal-altered-activation-of-signaling-cascades-in-the-liver
#15
Arne Hinrichs, Barbara Kessler, Mayuko Kurome, Andreas Blutke, Elisabeth Kemter, Maren Bernau, Armin M Scholz, Birgit Rathkolb, Simone Renner, Sebastian Bultmann, Heinrich Leonhardt, Martin Hrabĕ de Angelis, Hiroshi Nagashima, Andreas Hoeflich, Werner F Blum, Martin Bidlingmaier, Rüdiger Wanke, Maik Dahlhoff, Eckhard Wolf
OBJECTIVE: Laron syndrome (LS) is a rare, autosomal recessive disorder in humans caused by loss-of-function mutations of the growth hormone receptor (GHR) gene. To establish a large animal model for LS, pigs with GHR knockout (KO) mutations were generated and characterized. METHODS: CRISPR/Cas9 technology was applied to mutate exon 3 of the GHR gene in porcine zygotes. Two heterozygous founder sows with a 1-bp or 7-bp insertion in GHR exon 3 were obtained, and their heterozygous F1 offspring were intercrossed to produce GHR-KO, heterozygous GHR mutant, and wild-type pigs...
March 15, 2018: Molecular Metabolism
https://www.readbyqxmd.com/read/29678143/genetic-variants-in-atm-h2afx-and-mre11-genes-and-susceptibility-to-breast-cancer-in-the-polish-population
#16
Marta Podralska, Iwona Ziółkowska-Suchanek, Magdalena Żurawek, Agnieszka Dzikiewicz-Krawczyk, Ryszard Słomski, Jerzy Nowak, Agnieszka Stembalska, Karolina Pesz, Maria Mosor
BACKGROUND: DNA damage repair is a complex process, which can trigger the development of cancer if disturbed. In this study, we hypothesize a role of variants in the ATM, H2AFX and MRE11 genes in determining breast cancer (BC) susceptibility. METHODS: We examined the whole sequence of the ATM kinase domain and estimated the frequency of founder mutations in the ATM gene (c.5932G > T, c.6095G > A, and c.7630-2A > C) and single nucleotide polymorphisms (SNPs) in H2AFX (rs643788, rs8551, rs7759, and rs2509049) and MRE11 (rs1061956 and rs2155209) among 315 breast cancer patients and 515 controls...
April 20, 2018: BMC Cancer
https://www.readbyqxmd.com/read/29666116/critical-influences-on-the-pathogenesis-of-follicular-lymphoma
#17
Ralf Küppers, Freda K Stevenson
The development of follicular lymphoma (FL) from a founder B cell with an upregulation of BCL2, via the t(14;18) translocation, to a proliferating clone, poised to undergo further transformation to an aggressive lymphoma, illustrates the opportunistic Darwinian process of tumorigenesis. Protection against apoptosis allows an innocent cell to persist and divide, with dangerous accumulation of further mutational changes, commonly involving inactivation of chromatin-modifying genes. But this is not all. FL cells reflect normal B cells in relying on expression of surface Ig...
April 17, 2018: Blood
https://www.readbyqxmd.com/read/29665772/evolutionary-history-of-mexican-domesticated-and-wild-meleagris-gallopavo
#18
Gabriela Padilla-Jacobo, Horacio Cano-Camacho, Rigoberto López-Zavala, María E Cornejo-Pérez, María G Zavala-Páramo
BACKGROUND: The distribution of the wild turkey (Meleagris gallopavo) extends from Mexico to southeastern Canada and to the eastern and southern regions of the USA. Six subspecies have been described based on morphological characteristics and/or geographical variations in wild and domesticated populations. In this paper, based on DNA sequence data from the mitochondrial D-loop, we investigated the genetic diversity and structure, genealogical relationships, divergence time and demographic history of M...
April 17, 2018: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/29653316/clinical-variability-and-onset-age-modifiers-in-an-extended-belgian-grn-founder-family
#19
Eline Wauters, Sara Van Mossevelde, Kristel Sleegers, Julie van der Zee, Sebastiaan Engelborghs, Anne Sieben, Rik Vandenberghe, Stéphanie Philtjens, Marleen Van den Broeck, Karin Peeters, Ivy Cuijt, Wouter De Coster, Tim Van Langenhove, Patrick Santens, Adrian Ivanoiu, Patrick Cras, Jan L De Bleecker, Jan Versijpt, Roeland Crols, Nina De Klippel, Jean-Jacques Martin, Peter P De Deyn, Marc Cruts, Christine Van Broeckhoven
We previously reported a granulin (GRN) null mutation, originating from a common founder, in multiple Belgian families with frontotemporal dementia. Here, we used data of a 10-year follow-up study to describe in detail the clinical heterogeneity observed in this extended founder pedigree. We identified 85 patients and 40 unaffected mutation carriers, belonging to 29 branches of the founder pedigree. Most patients (74.4%) were diagnosed with frontotemporal dementia, while others had a clinical diagnosis of unspecified dementia, Alzheimer's dementia or Parkinson's disease...
March 10, 2018: Neurobiology of Aging
https://www.readbyqxmd.com/read/29629945/clonal-evolution-in-primary-diffuse-large-b-cell-lymphoma-of-the-central-nervous-system
#20
Julia Garcia-Reyero, Nerea Martinez Magunacelaya, Ainara Gonzalez Pereña, Sara Marcos Gonzalez, Nuria Teran-Villagra, Ainara Azueta, Ana Batlle, Sonia Gonzalez de Villambrosia, Jose Revert Arce, Santiago Montes-Moreno
Primary diffuse large B-cell lymphoma (DLBCL) of the central nervous system (CNS) is an aggressive subtype of DLBCL with characteristic clinicopathologic features. Relapse outside the CNS involving extranodal locations has been found in a fraction of cases (16%). Here we describe a case of DLBCL arising in the CNS that relapsed 18 months after the initial diagnosis in the testis and bilateral adrenal glands. Both tumors showed equivalent morphology, phenotype, cytogenetic features, and clonal relationship. Somatic mutation analysis by next generation sequencing demonstrated MYD88L265P mutation in both tumors and de novo CD79B Y196S mutation exclusive to the relapse...
April 7, 2018: Applied Immunohistochemistry & Molecular Morphology: AIMM
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