Searching journal content for articles similar to Dietrich 11 (3): 325.

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  1. Research: Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches
    • Merel Stemerdink,
    • Tabea Riepe,
    • Nick Zomer,
    • Renee Salz,
    • Michael Kwint,
    • Jaap Oostrik,
    • Raoul Timmermans,
    • Barbara Ferrari,
    • Stefano Ferrari,
    • Alfredo Dueñas Rey,
    • Emma Delanote,
    • Suzanne E. de Bruijn,
    • Hannie Kremer,
    • Susanne Roosing,
    • Frauke Coppieters,
    • Alexander Hoischen,
    • Frans P.M. Cremers,
    • Peter A.C. ‘t Hoen,
    • Erwin van Wijk,
    • and Erik de Vrieze
    Genome Res. April 2025 35: 725-739; Published in Advance March 4, 2025, doi:10.1101/gr.280060.124
    ...by the brain. Understanding the molecular composition of the human retina, particularly the wide variety of transcript isoforms expressed there, is essential for comprehending disease mechanisms and designing effective treatment strategies for inherited retinal diseases (IRDs) (Braun et al. 2013). A key factor...
  2. Perspective: Human genomic disease variants: A neutral evolutionary explanation
    • Joel T. Dudley,
    • Yuseob Kim,
    • Li Liu,
    • Glenn J. Markov,
    • Kristyn Gerold,
    • Rong Chen,
    • Atul J. Butte,
    • and Sudhir Kumar
    Genome Res. August 2012 22: 1383-1394; Published in Advance June 4, 2012, doi:10.1101/gr.133702.111
    ...inferred for various traits associated with environmental adaptations (Hancock et al. 2010). Indeed, adaptive variation will underlie a small proportion of human genetic disease variation, many of which will be due to pressures from infectious disease or fitness tradeoffs due to antagonistic pleiotropy...
  3. RECOMB Special/Review: Protein networks in disease
    • Trey Ideker and
    • Roded Sharan
    Genome Res. April 2008 18: 644-652; doi:10.1101/gr.071852.107
    ...development has shifted from understanding networks encoded by model species to understanding the networks underlying human disease (Kann 2007). Many of these newer studies are directly inspired by earlier developments in yeast network analysis, while others are “uniquely human.” In the remainder...
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  4. REVIEW: The Role of Genomics in Studying Genetic Susceptibility to Infectious Disease
    • David Weatherall,
    • John Clegg,
    • and Dominic Kwiatkowski
    Genome Res. October 1, 1997 7: 967-973; doi:10.1101/gr.7.10.967
    ...interesting insights into the dynamics of this process. These new concepts may have considerable importance to the further understanding of drug resistance and virulence, and may have implications beyond the field of infectious disease. As pointed out by Moxon and Thaler (1997) , pathogenic bacteria face...
  5. Research: The Y chromosome as a regulatory element shaping immune cell transcriptomes and susceptibility to autoimmune disease
    • Laure K. Case,
    • Emma H. Wall,
    • Julie A. Dragon,
    • Naresha Saligrama,
    • Dimitry N. Krementsov,
    • Mohamad Moussawi,
    • James F. Zachary,
    • Sally A. Huber,
    • Elizabeth P. Blankenhorn,
    • and Cory Teuscher
    Genome Res. September 2013 23: 1474-1485; Published in Advance June 25, 2013, doi:10.1101/gr.156703.113
    ...Abstract Understanding the DNA elements that constitute and control the regulatory genome is critical for the appropriate therapeutic management of complex diseases. Here, using chromosome Y (ChrY) consomic mouse strains on the C57BL/6J (B6) background, we show that susceptibility to two diverse animal...
  6. Research: Temporal shifts in the skin microbiome associated with disease flares and treatment in children with atopic dermatitis
    • Heidi H. Kong,
    • Julia Oh,
    • Clay Deming,
    • Sean Conlan,
    • Elizabeth A. Grice,
    • Melony A. Beatson,
    • Effie Nomicos,
    • Eric C. Polley,
    • Hirsh D. Komarow,
    • NISC Comparative Sequence Program,
    • Patrick R. Murray,
    • Maria L. Turner,
    • and Julia A. Segre
    Genome Res. May 2012 22: 850-859; Published in Advance February 6, 2012, doi:10.1101/gr.131029.111
    ...of antibiotic resistance, understanding how current treatments affect bacteria and subsequent disease activitywill allow us to identify and develop directed therapies for AD thatmodify the skinmicrobiome, potentially reducing use of systemic antibiotics. Our findings highlight the importance of performing...
  7. Research: Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes
    • Leen Abu-Safieh,
    • May Alrashed,
    • Shamsa Anazi,
    • Hisham Alkuraya,
    • Arif O. Khan,
    • Mohammed Al-Owain,
    • Jawahir Al-Zahrani,
    • Lama Al-Abdi,
    • Mais Hashem,
    • Salwa Al-Tarimi,
    • Mohammed-Adeeb Sebai,
    • Ahmed Shamia,
    • Mohamed D. Ray-zack,
    • Malik Nassan,
    • Zuhair N. Al-Hassnan,
    • Zuhair Rahbeeni,
    • Saad Waheeb,
    • Abdullah Alkharashi,
    • Emad Abboud,
    • Selwa A.F. Al-Hazzaa,
    • and Fowzan S. Alkuraya
    Genome Res. February 2013 23: 236-247; Published in Advance October 26, 2012, doi:10.1101/gr.144105.112
    ...improved our understanding of the molecular machinery that enables the retina to play a critical role in the perception of visual stimuli (Inglehearn 1998). While some of the genes were predicted to cause RD based on established physiological roles of the protein they encode, e.g., phototransduction genes...
  8. Research: Comparative genomics of Cryptosporidium parvum reveals the emergence of an outbreak-associated population in Europe and its spread to the United States
    • Greta Bellinzona,
    • Tiago Nardi,
    • Michele Castelli,
    • Gherard Batisti Biffignandi,
    • Karim Adjou,
    • Martha Betson,
    • Yannick Blanchard,
    • Ioana Bujila,
    • Rachel Chalmers,
    • Rebecca Davidson,
    • Nicoletta D'Avino,
    • Tuulia Enbom,
    • Jacinto Gomes,
    • Gregory Karadjian,
    • Christian Klotz,
    • Emma Östlund,
    • Judith Plutzer,
    • Ruska Rimhanen-Finne,
    • Guy Robinson,
    • Anna Rosa Sannella,
    • Jacek Sroka,
    • Christen Rune Stensvold,
    • Karin Troell,
    • Paolo Vatta,
    • Barbora Zalewska,
    • Claudio Bandi,
    • Davide Sassera,
    • and Simone M. Cacciò
    Genome Res. June 2024 34: 877-887; Published in Advance July 8, 2024, doi:10.1101/gr.278830.123
    ...cuniculus, Cryptosporidium ubiquitum, Cryptosporidium meleagridis, and others (Zahedi and Ryan 2020).With no effective drugs and no vaccine, control of cryptosporidiosis is heavily dependent on the prevention of infection, which has to be informed by a detailed understanding of the epidemiology, population...
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  9. Research: Global loss of cellular m6A RNA methylation following infection with different SARS-CoV-2 variants
    • Roshan Vaid,
    • Akram Mendez,
    • Ketan Thombare,
    • Rebeca Burgos-Panadero,
    • Rémy Robinot,
    • Barbara F. Fonseca,
    • Nikhil R. Gandasi,
    • Johan Ringlander,
    • Mohammad Hassan Baig,
    • Jae-June Dong,
    • Jae Yong Cho,
    • Björn Reinius,
    • Lisa A. Chakrabarti,
    • Kristina Nystrom,
    • and Tanmoy Mondal
    Genome Res. March 2023 33: 299-313; Published in Advance March 1, 2023, doi:10.1101/gr.276407.121
    ..., Gothenburg 41345, Sweden ↵9 These authors contributed equally to this work. Corresponding author: tanmoy.mondal@gu.seAbstractInsights into host–virus interactions during SARS-CoV-2 infection are needed to understand COVID-19 pathogenesis and may help to guide the design of novel antiviral therapeutics. N6...
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  10. Research: Comprehensive global genome dynamics of Chlamydia trachomatis show ancient diversification followed by contemporary mixing and recent lineage expansion
    • James Hadfield,
    • Simon R. Harris,
    • Helena M.B. Seth-Smith,
    • Surendra Parmar,
    • Patiyan Andersson,
    • Philip M. Giffard,
    • Julius Schachter,
    • Jeanne Moncada,
    • Louise Ellison,
    • María Lucía Gallo Vaulet,
    • Marcelo Rodríguez Fermepin,
    • Frans Radebe,
    • Suyapa Mendoza,
    • Sander Ouburg,
    • Servaas A. Morré,
    • Konrad Sachse,
    • Mirja Puolakkainen,
    • Suvi J. Korhonen,
    • Chris Sonnex,
    • Rebecca Wiggins,
    • Hamid Jalal,
    • Tamara Brunelli,
    • Patrizia Casprini,
    • Rachel Pitt,
    • Cathy Ison,
    • Alevtina Savicheva,
    • Elena Shipitsyna,
    • Ronza Hadad,
    • Laszlo Kari,
    • Matthew J. Burton,
    • David Mabey,
    • Anthony W. Solomon,
    • David Lewis,
    • Peter Marsh,
    • Magnus Unemo,
    • Ian N. Clarke,
    • Julian Parkhill,
    • and Nicholas R. Thomson
    Genome Res. July 2017 27: 1220-1229; Published in Advance June 6, 2017, doi:10.1101/gr.212647.116
    ...due to its obligate intracellular lifestyle, the difficulties in growing strains in vitro, and, until recently, a lack of genetic tools formanipulation and transformation (Wang et al. 2011; Song et al. 2013). Genomics has provided an alternative route to understanding this disease and has shown that...
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