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  1. Article ; Online: Comprehensive analysis of geographic and breed-purpose influences on genetic diversity and inherited disease risk in the Doberman dog breed

    Claire M. Wade / Robin Nuttall / Sophie Liu

    Canine Medicine and Genetics, Vol 10, Iss 1, Pp 1-

    2023  Volume 17

    Abstract: Abstract Background Publicly available phenotype data and genotyping array data from two citizen science projects: “Doberman Health Surveys” and “The Doberman Diversity Project” were analyzed to explore relative homozygosity, diversity, and disorder risk ...

    Abstract Abstract Background Publicly available phenotype data and genotyping array data from two citizen science projects: “Doberman Health Surveys” and “The Doberman Diversity Project” were analyzed to explore relative homozygosity, diversity, and disorder risk according to geographical locale and breeding purpose in the Doberman. Results From the phenotypic data cohort, life expectancy of a Doberman at birth is 9.1 years. The leading causes of death were heart disease (accounting for 28% of deaths) and cancers (collectively accounting for 14% of deaths). By genotyping, the world Doberman population exists as four major cohorts (European exhibition-bred, Americas exhibition-bred, European work, Americas pet/informal). Considering the entire Doberman population, four genomic regions longer than 500 Kb are fixed in 90% or more of 3,226 dogs included in this study. The four fixed regions reside on two autosomal chromosomes: CFA3:0.8–2.3 Mb (1.55 Mb); CFA3: 57.9–59.8 Mb (1.8 Mb); CFA31:0–1.2 Mb (1.2 Mb); and CFA31:4.80–6.47 Mb (1.67 Mb). Using public variant call files including variants for eight Doberman pinschers, we observed 30 potentially functional alternate variants that were evolutionarily diverged relative to the wider sequenced dog population within the four strongly homozygous chromosomal regions. Effective population size (Ne) is a statistical measure of breed diversity at the time of sampling that approximates the number of unique individuals. The major identified sub-populations of Dobermans demonstrated Ne in the range 70–236. The mean level of inbreeding in the Doberman breed is 40% as calculated by the number of array variants in runs of homozygosity divided by the assayed genome size (excluding the X chromosome). The lowest observed level of inbreeding in the Dobermans assayed was 15% in animals that were first generation mixes of European and USA bred Dobermans. Array variant analysis shows that inter-crossing between European and USA-bred Dobermans has capacity to re-introduce variation at many loci ...
    Keywords Doberman ; Diversity ; Disorder ; Population genetics ; Veterinary medicine ; SF600-1100
    Subject code 630
    Language English
    Publishing date 2023-06-01T00:00:00Z
    Publisher BMC
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  2. Article ; Online: The Course of Circulating Small Extracellular Vesicles in Patients Undergoing Surgical Aortic Valve Replacement

    Andreas Weber / Shining Sophie Liu / Letizia Cardone / Philipp Rellecke / Stephan Urs Sixt / Artur Lichtenberg / Payam Akhyari

    BioMed Research International, Vol

    2020  Volume 2020

    Abstract: In the last years, increasing efforts have been devoted to investigating the role of small extracellular vesicles (sEVs) in cardiovascular diseases. These nano-sized particles (30-150 nm), secreted by different cell types, contain signalling molecules ... ...

    Abstract In the last years, increasing efforts have been devoted to investigating the role of small extracellular vesicles (sEVs) in cardiovascular diseases. These nano-sized particles (30-150 nm), secreted by different cell types, contain signalling molecules that enable participation in intercellular communication processes. In this study, we examined the course of circulating sEVs in patients undergoing surgical aortic valve replacement (SAVR) and correlated them with echocardiographic and standard blood parameters. Peripheral blood samples were collected from 135 patients undergoing SAVR preoperatively and at three follow-up points. Circulating sEVs were precipitated using Exoquick™ exosome isolation reagent and analyzed by nanoparticle tracking analysis (NTA). Our findings indicate that no more than 7 days after SAVR, there was a marked increase of circulating sEVs before returning to initial values after 3 months. Further, shear stress is not a trigger for the formation and release of circulating sEVs. Moreover, we pointed out a correlation between circulating sEVs and erythrocytes as well as LDH and creatinine levels in peripheral blood. Finally, all patients with a moderate prosthesis-patient mismatch as well as with an impaired left ventricular mass regression had lower levels of circulating sEVs 3 months after SAVR compared to their respective status before surgery. We conclude that in patients with aortic valve stenosis (AVS), sEVs may play an important part in mediating cell-cell communication and SAVR may have a crucial and lasting impact on their circulating levels. Besides, lower levels of sEVs portend to be associated with inferior recovery after major surgical interventions. The additional use of circulating sEVs beyond echocardiographic and laboratory parameters could have a prognostic value to estimate adverse outcomes in patients undergoing SAVR.
    Keywords Medicine ; R
    Subject code 610
    Language English
    Publishing date 2020-01-01T00:00:00Z
    Publisher Hindawi Limited
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Performance comparison between rapid sequencing platforms for ultra-low coverage sequencing strategy.

    Shengpei Chen / Sheng Li / Weiwei Xie / Xuchao Li / Chunlei Zhang / Haojun Jiang / Jing Zheng / Xiaoyu Pan / Hancheng Zheng / Jia Sophie Liu / Yongqiang Deng / Fang Chen / Hui Jiang

    PLoS ONE, Vol 9, Iss 3, p e

    2014  Volume 92192

    Abstract: Ultra-low coverage sequencing (ULCS) is one of the most promising strategies for sequencing based clinical application. These clinical applications, especially prenatal diagnosis, have a strict requirement of turn-around-time; therefore, the application ... ...

    Abstract Ultra-low coverage sequencing (ULCS) is one of the most promising strategies for sequencing based clinical application. These clinical applications, especially prenatal diagnosis, have a strict requirement of turn-around-time; therefore, the application of ULCS is restricted by current high throughput sequencing platforms. Recently, the emergence of rapid sequencing platforms, such as MiSeq and Ion Proton, brings ULCS strategy into a new era. The comparison of their performance could shed lights on their potential application in large-scale clinic trials. In this study, we performed ULCS (<0.1X coverage) on both MiSeq and Ion Proton platforms for 18 spontaneous abortion fetuses carrying aneuploidy and compared their performance on different levels. Overall basic data and GC bias showed no significant difference between these two platforms. We also found the sex and aneuploidy detection indicated 100% sensitivity and 100% specificity on both platforms. Our study generated essential data from these two rapid sequencing platforms, which provides useful reference for later research and potentially accelerates the clinical applications of ULCS.
    Keywords Medicine ; R ; Science ; Q
    Language English
    Publishing date 2014-01-01T00:00:00Z
    Publisher Public Library of Science (PLoS)
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  4. Article ; Online: External validation and recalibration of an incidental meningioma prognostic model – IMPACT

    Julie Woodfield / Boris Krischek / Giles Critchley / Damian Holliman / Angelos Kolias / Thomas Santarius / Ola Rominiyi / Michael McDermott / Michael D Jenkinson / Jörg-Christian Tonn / Mohsen Javadpour / Andrea Saladino / Tiit Illimar Mathiesen / Rory Piper / Michael Vogelbaum / Chaya Brodie / Sara Venturini / Daniel M Fountain / Roland Goldbrunner /
    Elliot Tilling / Felix Sahm / Priscilla Brastianos / Rory J Piper / Antonio Santoro / Sylvia Kurz / Pierfrancesco Lapolla / Andrea Mingoli / Jennifer Brown / Debraj Mukherjee / Simon Walling / Andrew Morokoff / Patrick Wen / Ghazaleh Tabatabai / Jill Barnholtz-Sloan / Ryan K Mathew / Alexander Smedley / Helen Shih / William Taylor / Minh Nguyen / Bryony Ford / Samantha J Mills / Tamara Ali / Ruwanthi Kolamunnage-Dona / Josephine Jung / Muhammed Elhadi / Erminia Albanese / Aswin Chari / David Rowland / Melissa Gough / Michael Cearns / Simon Lammy / Yasir Chowdhury / Christian Mawrin / Mahmoud Saleh / Jens Schittenhelm / Farshad Nassiri / Raymond Huang / Pietro Familiari / Manfred Westphal / Warren Selman / Daniel Brown / Nathan McSorley / Oliver Hanemann / Richard Pullicino / Francesco Gaillard / Mirjam Renovanz / Chris Barrett / Christine Jungk / Aaron Cohen-Gadol / Javier Martín-Alonso / Gelareh Zadeh / Hytham Hamid / Abdurrahman I Islim / Christopher P Millward / Shaveta Mehta / Usama Ali / Shelli Diane Koszdin / Theo Georgious / Andrew R Brodbelt / Mohamed Abdelsadg / Suhaib Abualsaud / Amro Abuleil / Kevin Agyemang / Hanan Akbari / Likhith Alakandy / Clarissa Alfonso / Arousa Ali / Michael Amoo / Mohamed A. R. Arbab / Mutiu Asha / Kareem Austin / Khaled Badran / Jarnail Bal / Parameswaran Bhattathiri / Paul M. Brennan / Andrew R. Brodbelt / Ferran Brugada-Bellsolà / Placido Bruzzaniti / Annabel Butcher / Rory S. Cairns / Michael Canty / Sachiv Chakravarti / Rebecca Chave-Cox / Anna Craig-McQuade / Peter Crossley / Elizabeth Culpin / Alessia D'Amico / Bassam Dabbous / Pedro David Delgado-López / Mohamed Draz / Katharine J. Drummond / Rusiru T. Ekanayaka / Ibrahim Elmaadawi / Omar Elmandouh / Mazin Elsharif / Daisy Evans / Andreas Fahlström / Fleur L. Fisher / Daniel M. Fountain / Keiko Fox / Chloé Gelder / Shamayitri Ghosh / Aimee Goel / Athanasios Grivas / Andrew Gvozdanovic / Allan Hall / Liv Hartrick / Samih Hassan / Jack Henry / Abdurrahman I. Islim / Asgeir S. Jakola / Michael D. Jenkinson / Sanjeeva Jeyaretna / Adrian Jimenez / Andranik Kahramanian / Neeraj Kalra / David O. Kamson / Oliver Kennion / Adham M. Khalafallah / Sarah Kingdon / Howra Ktayen / Aditaya Kumar / Jun Yi Lau / Jing Xian Lee / Ryan Leyden / Patricia Littlechild / Sophie Liu / Darmanin Lora-Kay / Vivia Lung / Stephen T. Magill / Hani J. Marcus / Fawaz E. Marhoom / Ryan K. Mathew / Calan Mathieson / Tobias Mederer / Torstien R. Meling / Samantha J. Mills / Christopher P. Millward / Mujtaba Mohammad / Amir H. Zamanipoor Najafabadi / Olivia Näslund / Imran Noorani / Gildas Patet / Omar N. Pathmanaban / Andrea Perera / Amit Persad / See Yung Phang / Rory J. Piper / Jonathan Pollock / Benjamin Price / Martin Proescholdt / James Robins / Bobby Sachdev / Fozia Saeed / Ieva Sataite / Antony Kevin Scafa / Verena Schadewaldt / Syed Wajahat Shah / Mustafa El Sheikh / Zenab Sher / Bente Sandvei Skeie / Agbolahan Sofela / Jerome St George / Torbjørn Strømsnes / Nigel Suttner / Philip Theodosopoulos / Manjul Tripathi / Ismail Ughratdar / James Ulrich / Adithya Varma / Anil Varma / Maria Velicu / Esther Wu / Jacob Young / Giuseppa Zancana / Catherine Zhang / Karolyn Au / Felix Behling / Linda Bi / Nicholas Butowski / Ana Castro / Marta Couce / Francesco Dimeco / Katherine J. Drummond / Ian Dunn / Craig Erker / Michelle Felicella / Eva Galanis / Norbert Galldiks / Caterina Giannini / Christel Herold-Mende / Luke Hnenny / Craig Horbinski / Gerhard Jungwirth / Timothy Kaufmann / Daniel Lachance / Christian Lafougere / Katrin Lamszus / Serge Makarenko / Tathiana Malta / Jennifer Moliterno-Gunel / HK Ng / Houtan Noushmehr / Arie Perry / Laila Poisson / Bianco Pollo / Aditya Ragunathan / David Raleigh / Franz Ricklefs / Antonio Santacroce / Christian Schichor / Nils Schimdt / Andrew Sloan / Matija Snuderl / Jim Snyder / Erik Sulman / Suganth Suppiah / Marcos Tatagiba / Marco Timmer / Andreas Von Deimling / Tobias Walbert / Justin Z. Wang / Stephen Yip / Gabriel Zada / Viktor Zherebitskiy / Michael T.C. Poon

    BMJ Open, Vol 12, Iss

    protocol for an international multicentre retrospective cohort study

    2022  Volume 1

    Keywords Medicine ; R
    Language English
    Publishing date 2022-01-01T00:00:00Z
    Publisher BMJ Publishing Group
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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