Results 1 to 10 of about 769,507 (169)

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Genome Medicine
Background A subset of developmental disorders (DD) is characterized by disease-specific genome-wide methylation changes. These episignatures inform on the underlying pathogenic mechanisms and can be used to assess the pathogenicity of genomic variants ...
Mathilde Geysens, Benjamin Huremagic, Erika Souche, Jeroen Breckpot, Koenraad Devriendt, Hilde Peeters, Griet Van Buggenhout, Hilde Van Esch, Kris Van Den Bogaert, Joris Robert Vermeesch   +9 more
doaj   +1 more source

The Opportunities and Challenges of Integrating Population Histories Into Genetic Studies for Diverse Populations: A Motivating Example From Native Hawaiians

Frontiers in Genetics, 2021
There is a well-recognized need to include diverse populations in genetic studies, but several obstacles continue to be prohibitive, including (but are not limited to) the difficulty of recruiting individuals from diverse populations in large numbers and
Charleston W. K. Chiang, Charleston W. K. Chiang   +1 more
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The FAIR data point populator: collaborative FAIRification and population of FAIR data points

BMC Medical Informatics and Decision Making
Background Use of the FAIR principles (Findable, Accessible, Interoperable and Reusable) allows the rapidly growing number of biomedical datasets to be optimally (re)used. An important aspect of the FAIR principles is metadata.
Daphne Wijnbergen, Rajaram Kaliyaperumal, Kees Burger, Luiz Olavo Bonino da Silva Santos, Barend Mons, Marco Roos, Eleni Mina   +6 more
doaj   +1 more source

Partial LPL deletions: rare copy-number variants contributing towards severe hypertriglyceridemia

Journal of Lipid Research, 2019
Severe hypertriglyceridemia (HTG) is a relatively common form of dyslipidemia with a complex pathophysiology and serious health complications. HTG can develop in the presence of rare genetic factors disrupting genes involved in the triglyceride (TG ...
Jacqueline S. Dron, Jian Wang, Adam D. McIntyre, Henian Cao, John F. Robinson, P. Barton Duell, Priya Manjoo, James Feng, Irina Movsesyan, Mary J. Malloy, Clive R. Pullinger, John P. Kane, Robert A. Hegele   +12 more
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Drosophila Toxicogenomics: genetic variation and sexual dimorphism in susceptibility to 4-Methylimidazole

Human Genomics
Background 4-methylimidazole is a ubiquitous and potentially carcinogenic environmental toxicant. Genetic factors that contribute to variation in susceptibility to its toxic effects are challenging to assess in human populations.
Katelynne M. Collins, Elisabeth Howansky, Sarah C. Macon-Foley, Maria E. Adonay, Vijay Shankar, Richard F. Lyman, Nestor Octavio Nazario-Yepiz, Jordyn K. Brooks, Rachel A. Lyman, Trudy F. C. Mackay, Robert R. H. Anholt   +10 more
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Zebrafish: A Powerful Model for Understanding the Functional Relevance of Noncoding Region Mutations in Human Genetic Diseases

Biomedicines, 2019
Determining aetiology of genetic disorders caused by damaging mutations in protein-coding genes is well established. However, understanding how mutations in the vast stretches of the noncoding genome contribute to genetic abnormalities remains a huge ...
Anita Mann, Shipra Bhatia
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BMPR1B gene in brachydactyly type 2–A family with de novo R486W mutation and a disease phenotype

Molecular Genetics & Genomic Medicine, 2021
Background Brachydactylies are a group of inherited conditions, characterized mainly by the presence of shortened fingers and toes. Based on the patients’ phenotypes, brachydactylies have been subdivided into 10 subtypes.
Marcin Bednarek, Marek Trybus, Monika Kolanowska, Mateusz Koziej, Beata Kiec‐Wilk, Artur Dobosz, Marta Kotlarek‐Łysakowska, Anna Kubiak‐Dydo, Ewelina Użarowska‐Gąska, Julia Staręga‐Rosłan, Paweł Gaj, Izabela Górzyńska, Katarzyna Serwan, Michał Świerniak, Adam Kot, Krystian Jażdżewski, Anna Wójcicka   +16 more
doaj   +1 more source

Identification of Genomic Predictors of Muscle Fiber Size

Cells
The greater muscle fiber cross-sectional area (CSA) is associated with greater skeletal muscle mass and strength, whereas muscle fiber atrophy is considered a major feature of sarcopenia.
João Paulo L. F. Guilherme, Ekaterina A. Semenova, Naoki Kikuchi, Hiroki Homma, Ayumu Kozuma, Mika Saito, Hirofumi Zempo, Shingo Matsumoto, Naoyuki Kobatake, Koichi Nakazato, Takanobu Okamoto, George John, Rinat A. Yusupov, Andrey K. Larin, Nikolay A. Kulemin, Ilnaz M. Gazizov, Edward V. Generozov, Ildus I. Ahmetov   +17 more
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Behinderung – Genetik – Vorsorge. Sterilisationspraxis und humangenetische Beratung in der Bundesrepublik

Zeithistorische Forschungen, 2013
To this day, there is no comprehensive account of the history of genetic counseling in the FRG. This is surprising, as studying the connections between counseling practice and disability as well as concepts and critique of Human Genetics allows for an ...
Britta-Marie Schenk
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Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

eLife, 2016
Premature fusion of the cranial sutures (craniosynostosis), affecting 1 in 2000 newborns, is treated surgically in infancy to prevent adverse neurologic outcomes.
Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton   +23 more
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