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https://www.readbyqxmd.com/read/27933726/inheritance-of-evolved-clethodim-resistance-in-lolium-rigidum-populations-from-australia
#1
Rupinder Kaur Saini, Jenna Malone, Gurjeet Gill, Christopher Preston
BACKGROUND: In Australia, the extensive use of clethodim for the control of Lolium rigidum has resulted in the evolution of many clethodim-resistant L.rigidum populations. Five clethodim-resistant populations of L. rigidum were analysed for the inheritance of clethodim resistance. RESULTS: Reciprocal crosses were made between resistant (R) and susceptible (S) populations. Within crosses, dose responses of reciprocal F1 families of all populations, except A61 were similar each other, indicating clethodim resistance in these populations is encoded on the nuclear genome...
December 8, 2016: Pest Management Science
https://www.readbyqxmd.com/read/27933557/atypical-presentation-and-treatment-response-in-a-child-with-familial-hypercholesterolemia-having-a-novel-ldlr-mutation
#2
S Varma, A D McIntyre, R A Hegele
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous form (HoFH) is associated with high mortality rate by third decade of life, while individuals with HeFH begin to suffer from premature cardiovascular disease in fourth or fifth decade of life. Statin drugs have helped to improve the biochemical profile and life expectancy in HeFH, while they are only minimally effective in HoFH...
December 9, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27933413/investigation-on-genetic-thrombophilic-factors-in-ffpe-autopsy-tissue-from-subjects-who-died-from-pulmonary-embolism
#3
Francesco Brandimarti, Federica Alessandrini, Mauro Pesaresi, Chiara Catalani, Letizia De Angelis, Roberta Galeazzi, Simona Giovagnetti, Rosaria Gesuita, Elisa Righi, Raffaele Giorgetti, Adriano Tagliabracci
Venous thromboembolism (VTE) is a multifactorial disease determined by a combination of inherited and acquired factors. Inherited factors include mutations in the genes coding for coagulation factors, some of which seem to exert a differential influence on the risk of developing deep vein thrombosis (DVT) and pulmonary embolism (PE). In post-mortem studies of subjects who have died from pulmonary embolism (PE), the analysis of the factors that may have augmented the VTE risk is often limited to acquired factors...
December 9, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27933279/is-there-a-role-for-genetic-information-in-risk-assessment-and-decision-making-in-prostate-cancer
#4
Mohamadreza Nowroozi, Mohsen Ayati, Erfan Amini, Reza Mahdian, Behzad Yousefi, Amir Arbab, Mansour Jamali Zawarei, Hasan Niroomand, Hamidreza Ghorbani, Alireza Ghadian
OBJECTIVES: Prostate cancer is a neoplasm with a variable natural history and clinical behavior. There is much debate on the use of inherited genetic information in clinical application including risk assessment and treatment decisions. This study was performed to evaluate the relationship between clinical parameters of prostate cancer (PSA, Gleason score, and metastasis) and expression of NKX3.1, AMACR, TMPRSS2-ERG, ERG, and SPINK1 genes. METHODS: Newly diagnosed cases of prostate cancer were selected for this study...
November 2016: Nephro-urology Monthly
https://www.readbyqxmd.com/read/27933213/molecular-pathology-of-cancer-how-to-communicate-with-disease
#5
REVIEW
Peter Birner, Gerald Prager, Berthold Streubel
: Recent technical advances have brought insights into the biology of cancer in human, establishing it as a disease driven by genetic mutations. Beside inherited family tumour syndromes caused by germline mutations, somatic genetic alterations occur early in tumourigenesis, which accumulate during the progression of the disease and its treatment. Based on these observations, medical oncology has started to enter an era of stratified medicine, where treatment selection is becoming tailored to drugable molecular pathways...
2016: ESMO Open
https://www.readbyqxmd.com/read/27933191/genetics-of-inherited-cardiocutaneous-syndromes-a-review
#6
REVIEW
Tara Bardawil, Samar Khalil, Christina Bergqvist, Ossama Abbas, Abdul Ghani Kibbi, Fadi Bitar, Georges Nemer, Mazen Kurban
The life of a human being originates as a single cell which, under the influence of certain factors, divides sequentially into multiple cells that subsequently become committed to develop and differentiate into the different structures and organs. Alterations occurring early on in the development process may lead to fetal demise in utero. Conversely, abnormalities at later stages may result in structural and/or functional abnormalities of varying severities. The cardiovascular system and skin share certain developmental and structural factors; therefore, it is not surprising to find several inherited syndromes with both cardiac and skin manifestations...
2016: Open Heart
https://www.readbyqxmd.com/read/27933089/a-rare-inherited-15q11-2-q13-1-interstitial-duplication-with-maternal-somatic-mosaicism-renal-carcinoma-and-autism
#7
Nora Urraca, Brian Potter, Rachel Hundley, Eniko K Pivnick, Kathryn McVicar, Ronald L Thibert, Christopher Ledbetter, Reed Chamberlain, Leticia Miravalle, Carissa L Sirois, Stormy Chamberlain, Lawrence T Reiter
Chromosome 15q11-q13.1 duplication is a common copy number variant associated with autism spectrum disorder (ASD). Most cases are de novo, maternal in origin and fully penetrant for ASD. Here, we describe a unique family with an interstitial 15q11.2-q13.1 maternal duplication and the presence of somatic mosaicism in the mother. She is typically functioning, but formal autism testing showed mild ASD. She had several congenital anomalies, and she is the first 15q Duplication case reported in the literature to develop unilateral renal carcinoma...
2016: Frontiers in Genetics
https://www.readbyqxmd.com/read/27933045/what-is-the-link-between-stringent-response-endoribonuclease-encoding-type-ii-toxin-antitoxin-systems-and-persistence
#8
Bhaskar C M Ramisetty, Dimpy Ghosh, Maoumita Roy Chowdhury, Ramachandran S Santhosh
Persistence is a transient and non-inheritable tolerance to antibiotics by a small fraction of a bacterial population. One of the proposed determinants of bacterial persistence is toxin-antitoxin systems (TASs) which are also implicated in a wide range of stress-related phenomena. Maisonneuve E, Castro-Camargo M, Gerdes K. 2013. Cell 154:1140-1150 reported an interesting link between ppGpp mediated stringent response, TAS, and persistence. It is proposed that accumulation of ppGpp enhances the accumulation of inorganic polyphosphate which modulates Lon protease to degrade antitoxins...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27932852/evolutionary-connectionism-algorithmic-principles-underlying-the-evolution-of-biological-organisation-in-evo-devo-evo-eco-and-evolutionary-transitions
#9
Richard A Watson, Rob Mills, C L Buckley, Kostas Kouvaris, Adam Jackson, Simon T Powers, Chris Cox, Simon Tudge, Adam Davies, Loizos Kounios, Daniel Power
The mechanisms of variation, selection and inheritance, on which evolution by natural selection depends, are not fixed over evolutionary time. Current evolutionary biology is increasingly focussed on understanding how the evolution of developmental organisations modifies the distribution of phenotypic variation, the evolution of ecological relationships modifies the selective environment, and the evolution of reproductive relationships modifies the heritability of the evolutionary unit. The major transitions in evolution, in particular, involve radical changes in developmental, ecological and reproductive organisations that instantiate variation, selection and inheritance at a higher level of biological organisation...
2016: Evolutionary Biology
https://www.readbyqxmd.com/read/27932624/allele-rs2010963-c-of-the-vegfa-gene-is-associated-with-the-decreased-risk-of-primary-varicose-veins-in-ethnic-russians
#10
Alexandra S Shadrina, Mariya A Smetanina, Ekaterina A Sokolova, Darya V Shamovskaya, Kseniya S Sevost'ianova, Andrey I Shevela, Evgenii Y Soldatsky, Evgenii I Seliverstov, Marina Y Demekhova, Oleg A Shonov, Evgeny A Ilyukhin, Elena N Voronina, Ilya V Pikalov, Igor A Zolotukhin, Alexander I Kirienko, Maxim L Filipenko
OBJECTIVE: To study the association of polymorphisms rs699947, rs2010963, rs3025039 in the VEGFA gene region and rs1870377, rs2305949, rs2071559 in the VEGFR2 gene region with the risk of primary varicose veins in ethnic Russians. METHODS: Genotypes were determined by real-time PCR allelic discrimination. The case group consisted of 448 patients with primary varicose veins and the control group comprised 609 individuals without a history of chronic venous disease...
December 8, 2016: Phlebology
https://www.readbyqxmd.com/read/27932495/modulations-of-sir-nucleosome-interactions-of-reconstructed-yeast-silent-pre-heterochromatin-by-o-acetyl-adp-ribose-and-magnesium
#11
Shu-Yun Tung, Sue-Hong Wang, Sue-Ping Lee, Shu-Ping Tsai, Hsiao-Hsuian Shen, Feng-Jung Chen, Yu-Yi Wu, Sheng-Pin Hsiao, Gunn-Guang Liou
To study epigenetic inheritance, yeast silent heterochromatin provides an excellent model. Previously, we developed an in vitro assembly system to demonstrate the formation of filament structures with requirements that mirror yeast epigenetic gene silencing in vivo However, the properties of these filaments have not been investigated in detail. Here, we show that the assembly system requires Sir2, Sir3, Sir4, nucleosomes and O-acetyl-ADP-ribose. We also demonstrate that all Sir proteins and nucleosomes are components of these filaments to prove they are SIR-nucleosome filaments...
December 8, 2016: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/27932480/magi2-mutations-cause-congenital-nephrotic-syndrome
#12
Agnieszka Bierzynska, Katrina Soderquest, Philip Dean, Elizabeth Colby, Ruth Rollason, Caroline Jones, Carol D Inward, Hugh J McCarthy, Michael A Simpson, Graham M Lord, Maggie Williams, Gavin I Welsh, Ania B Koziell, Moin A Saleem
Steroid-resistant nephrotic syndrome (SRNS), a heterogeneous disorder of the renal glomerular filtration barrier, results in impairment of glomerular permselectivity. Inheritance of genetic SRNS may be autosomal dominant or recessive, with a subset of autosomal recessive SRNS presenting as congenital nephrotic syndrome (CNS). Mutations in 53 genes are associated with human SRNS, but these mutations explain ≤30% of patients with hereditary cases and only 20% of patients with sporadic cases. The proteins encoded by these genes are expressed in podocytes, and malfunction of these proteins leads to a universal end point of podocyte injury, glomerular filtration barrier disruption, and SRNS...
December 8, 2016: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/27932412/universal-haplotype-based-noninvasive-prenatal-testing-for-single-gene-diseases
#13
Winnie W I Hui, Peiyong Jiang, Yu K Tong, Wing-Shan Lee, Yvonne K Y Cheng, Maria I New, Rezan A Kadir, K C Allen Chan, Tak Y Leung, Y M Dennis Lo, Rossa W K Chiu
BACKGROUND: Researchers have developed approaches for the noninvasive prenatal testing of single gene diseases. One approach that allows for the noninvasive assessment of both maternally and paternally inherited mutations involves the analysis of single nucleotide polymorphisms (SNPs) in maternal plasma DNA with reference to parental haplotype information. In the past, parental haplotypes were resolved by complex experimental methods or inferential approaches, such as through the analysis of DNA from other affected family members...
December 8, 2016: Clinical Chemistry
https://www.readbyqxmd.com/read/27931829/primary-immunodeficiencies-associated-with-ebv-induced-lymphoproliferative-disorders
#14
REVIEW
Mahsima Shabani, Kim E Nichols, Nima Rezaei
Primary immunodeficiency diseases (PIDs) are a subgroup of inherited immunological disorders that increase susceptibility to viral infections. Among the range of viral pathogens involved, EBV remains a major threat because of its high prevalence of infection among the adult population and its tendency to progress to life-threatening lymphoproliferative disorders (LPDs) and/or malignancy. The high mortality in immunodeficient patients with EBV-driven LPDs, despite institution of diverse and often intensive treatments, prompts the need to better study these PIDs to identify and understand the affected molecular pathways that increase susceptibility to EBV infection and progression...
December 2016: Critical Reviews in Oncology/hematology
https://www.readbyqxmd.com/read/27931023/increased-need-for-gastrointestinal-surgery-and-increased-risk-of-surgery-related-complications-in-patients-with-ehlers-danlos-syndrome-a-systematic-review
#15
Marie-Louise Kulas Søborg, Julie Leganger, Jacob Rosenberg, Jakob Burcharth
BACKGROUND/AIMS: Ehlers-Danlos syndromes (EDSs) constitute a rare group of inherited connective tissue diseases, characterized by multisystemic manifestations and general tissue fragility. Most severe complications include vascular and gastrointestinal (GI) emergencies requiring acute surgery. The purpose of this systematic review was to assess the causes of GI-related surgery and related mortality and morbidity in patients with EDSs. METHODS: A systematic search was conducted in PubMed, Embase, and Scopus to identify relevant studies...
December 9, 2016: Digestive Surgery
https://www.readbyqxmd.com/read/27930701/natural-and-undetermined-sudden-death-value-of-post-mortem-genetic-investigation
#16
Olallo Sanchez, Oscar Campuzano, Anna Fernández-Falgueras, Georgia Sarquella-Brugada, Sergi Cesar, Irene Mademont, Jesus Mates, Alexandra Pérez-Serra, Monica Coll, Ferran Pico, Anna Iglesias, Coloma Tirón, Catarina Allegue, Esther Carro, María Ángeles Gallego, Carles Ferrer-Costa, Anna Hospital, Narcís Bardalet, Juan Carlos Borondo, Albert Vingut, Elena Arbelo, Josep Brugada, Josep Castellà, Jordi Medallo, Ramon Brugada
BACKGROUND: Sudden unexplained death may be the first manifestation of an unknown inherited cardiac disease. Current genetic technologies may enable the unraveling of an etiology and the identification of relatives at risk. The aim of our study was to define the etiology of natural deaths, younger than 50 years of age, and to investigate whether genetic defects associated with cardiac diseases could provide a potential etiology for the unexplained cases. METHODS AND FINDINGS: Our cohort included a total of 789 consecutive cases (77...
2016: PloS One
https://www.readbyqxmd.com/read/27930654/whole-organism-developmental-expression-profiling-identifies-rab-28-as-a-novel-ciliary-gtpase-associated-with-the-bbsome-and-intraflagellar-transport
#17
Victor L Jensen, Stephen Carter, Anna A W M Sanders, Chunmei Li, Julie Kennedy, Tiffany A Timbers, Jerry Cai, Noemie Scheidel, Breandán N Kennedy, Ryan D Morin, Michel R Leroux, Oliver E Blacque
Primary cilia are specialised sensory and developmental signalling devices extending from the surface of most eukaryotic cells. Defects in these organelles cause inherited human disorders (ciliopathies) such as retinitis pigmentosa and Bardet-Biedl syndrome (BBS), frequently affecting many physiological and developmental processes across multiple organs. Cilium formation, maintenance and function depend on intracellular transport systems such as intraflagellar transport (IFT), which is driven by kinesin-2 and IFT-dynein motors and regulated by the Bardet-Biedl syndrome (BBS) cargo-adaptor protein complex, or BBSome...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27930647/allelic-variation-in-cxcl16-determines-cd3-t-lymphocyte-susceptibility-to-equine-arteritis-virus-infection-and-establishment-of-long-term-carrier-state-in-the-stallion
#18
Sanjay Sarkar, Ernest Bailey, Yun Young Go, R Frank Cook, Ted Kalbfleisch, John Eberth, R Lakshman Chelvarajan, Kathleen M Shuck, Sergey Artiushin, Peter J Timoney, Udeni B R Balasuriya
Equine arteritis virus (EAV) is the causative agent of equine viral arteritis (EVA), a respiratory, systemic, and reproductive disease of horses and other equid species. Following natural infection, 10-70% of the infected stallions can become persistently infected and continue to shed EAV in their semen for periods ranging from several months to life. Recently, we reported that some stallions possess a subpopulation(s) of CD3+ T lymphocytes that are susceptible to in vitro EAV infection and that this phenotypic trait is associated with long-term carrier status following exposure to the virus...
December 2016: PLoS Genetics
https://www.readbyqxmd.com/read/27930511/four-year-follow-up-of-a-wilson-disease-pedigree-complicated-with-epilepsy-and-hypopituitarism-case-report-with-a-literature-review
#19
Qi-Jie Zhang, Liu-Qing Xu, Chong Wang, Wei Hu, Ning Wang, Wan-Jin Chen
RATIONALE: Wilson's disease (WD) is an autosomal recessive inherited disorder of copper metabolism with excellent prognosis if treated timely. However, WD is usually prone to neglect and misdiagnosis at an early stage. We reported a rare WD pedigree, and the clinical features, laboratory tests, and gene mutations were analyzed in detail. PATIENT CONCERNS: The patient was a 17-year-old and 136-cm-tall girl who presented with limb weakness, combined with multi-organ disorders including blind eye, epilepsy, and hypopituitarism...
December 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27930337/genetic-immunological-and-clinical-features-of-patients-with-bacterial-and-fungal-infections-due-to-inherited-il-17ra-deficiency
#20
Romain Lévy, Satoshi Okada, Vivien Béziat, Kunihiko Moriya, Caini Liu, Louis Yi Ann Chai, Mélanie Migaud, Fabian Hauck, Amein Al Ali, Cyril Cyrus, Chittibabu Vatte, Turkan Patiroglu, Ekrem Unal, Marie Ferneiny, Nobuyuki Hyakuna, Serdar Nepesov, Matias Oleastro, Aydan Ikinciogullari, Figen Dogu, Takaki Asano, Osamu Ohara, Ling Yun, Erika Della Mina, Didier Bronnimann, Yuval Itan, Florian Gothe, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Natalia Tahuil, Caner Aytekin, Aicha Salhi, Saleh Al Muhsen, Masao Kobayashi, Julie Toubiana, Laurent Abel, Xiaoxia Li, Yildiz Camcioglu, Fatih Celmeli, Christoph Klein, Suzan A AlKhater, Jean-Laurent Casanova, Anne Puel
Chronic mucocutaneous candidiasis (CMC) is defined as recurrent or persistent infection of the skin, nails, and/or mucosae with commensal Candida species. The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient. We report here 21 patients with complete AR IL-17RA deficiency, including this first patient. Each patient is homozygous for 1 of 12 different IL-17RA alleles, 8 of which create a premature stop codon upstream from the transmembrane domain and have been predicted and/or shown to prevent expression of the receptor on the surface of circulating leukocytes and dermal fibroblasts...
December 7, 2016: Proceedings of the National Academy of Sciences of the United States of America
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