Zobrazeno 1 - 10
of 405
pro vyhledávání: '"disease mechanism"'
Autor:
T. Michael Yates, Morad Ansari, Louise Thompson, Sarah E. Hunt, Elena Cibrian Uhalte, Rachel J. Hobson, Joseph A. Marsh, Caroline F. Wright, Helen V. Firth
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-8 (2024)
Abstract Genetically determined disorders are highly heterogenous in clinical presentation and underlying molecular mechanism. The evidence underpinning these conditions in the peer-reviewed literature requires robust critical evaluation for diagnost
Externí odkaz:
https://doaj.org/article/ee6d9b1086e44976b7f5f6692a8193e2
Publikováno v:
Clinical and Translational Medicine, Vol 14, Iss 5, Pp n/a-n/a (2024)
Abstract Cerebrovascular diseases (CVDs) are a major threat to global health. Elucidation of the molecular mechanisms underlying the pathology of CVDs is critical for the development of efficacious preventative and therapeutic approaches. Accumulatin
Externí odkaz:
https://doaj.org/article/64deddfaba324a42870df83ccda83eed
Autor:
Min-Gyoung Shin, Alexander R. Pico
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-13 (2023)
Abstract Pathway Figure OCR (PFOCR) is a novel kind of pathway database approaching the breadth and depth of Gene Ontology while providing rich, mechanistic diagrams and direct literature support. Here, we highlight the utility of PFOCR in disease re
Externí odkaz:
https://doaj.org/article/2a32d59966b440feb6469bc17b297e39
Autor:
Katherine S. Josephs, Angharad M. Roberts, Pantazis Theotokis, Roddy Walsh, Philip J. Ostrowski, Matthew Edwards, Andrew Fleming, Courtney Thaxton, Jason D. Roberts, Melanie Care, Wojciech Zareba, Arnon Adler, Amy C. Sturm, Rafik Tadros, Valeria Novelli, Emma Owens, Lucas Bronicki, Olga Jarinova, Bert Callewaert, Stacey Peters, Tom Lumbers, Elizabeth Jordan, Babken Asatryan, Neesha Krishnan, Ray E. Hershberger, C. Anwar A. Chahal, Andrew P. Landstrom, Cynthia James, Elizabeth M. McNally, Daniel P. Judge, Peter van Tintelen, Arthur Wilde, Michael Gollob, Jodie Ingles, James S. Ware
Publikováno v:
Genome Medicine, Vol 15, Iss 1, Pp 1-15 (2023)
Abstract Background As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in
Externí odkaz:
https://doaj.org/article/b19fec6981b54abc9f8f6edd48178160
Akademický článek
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Autor:
Qaiser Shakeel, Mustansar Mubeen, Muhammad Aamir Sohail, Sajjad Ali, Yasir Iftikhar, Rabia Tahir Bajwa, Muhammad Anjum Aqueel, Sudhir K. Upadhyay, Praveen Kumar Divvela, Lei Zhou
Publikováno v:
Frontiers in Microbiology, Vol 14 (2023)
Rice production is severely hampered by the bakanae disease (Fusarium fujikuroi), formerly recognized as Fusarium moniliforme. F. moniliforme was called the F. fujikuroi species complex (FFSC) because it was later discovered that it had some separate
Externí odkaz:
https://doaj.org/article/8ceaf23af122463f8fdad7404fb7c249
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/7f445ccad92a42bd8e830480c51df32f
Autor:
Shannon E Wright, Peter K Todd
Publikováno v:
eLife, Vol 12 (2023)
Over a third of the human genome is comprised of repetitive sequences, including more than a million short tandem repeats (STRs). While studies of the pathologic consequences of repeat expansions that cause syndromic human diseases are extensive, the
Externí odkaz:
https://doaj.org/article/d6ee6555c6094abfa19a965c7fe389ef
Publikováno v:
Frontiers in Molecular Medicine, Vol 3 (2023)
Amyotrophic lateral sclerosis (ALS) is the most common motor neuron disease in adults, causing progressive degeneration of motor neurons, which results in muscle atrophy, respiratory failure and ultimately death of the patients. The pathogenesis of A
Externí odkaz:
https://doaj.org/article/23873111c7614b4587e356e8f71bb8d4
Akademický článek
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