Zobrazeno 1 - 10
of 50
pro vyhledávání: '"Paul Yan"'
Autor:
Colin McGaw, Anthony J. Garrity, Gabrielle Z. Munoz, Jeffrey R. Haswell, Sejuti Sengupta, Elise Keston-Smith, Pratyusha Hunnewell, Alexa Ornstein, Mishti Bose, Quinton Wessells, Noah Jakimo, Paul Yan, Huaibin Zhang, Lauren E. Alfonse, Roy Ziblat, Jason M. Carte, Wei-Cheng Lu, Derek Cerchione, Brendan Hilbert, Shanmugapriya Sothiselvam, Winston X. Yan, David R. Cheng, David A. Scott, Tia DiTommaso, Shaorong Chong
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-11 (2022)
Cas12i is a genome editing platform with compact size that fits in AAV vector with short 43-mer gRNA, absence of tracrRNA, ability to process pre-crRNA, and high specificity. Here the authors present an unbiased mutational scanning approach to engine
Externí odkaz:
https://doaj.org/article/b34236ad23cc4e1cb4a7c8a576cc399b
Publikováno v:
PLoS Genetics, Vol 14, Iss 8, p e1007588 (2018)
Recursive splicing, a process by which a single intron is removed from pre-mRNA transcripts in multiple distinct segments, has been observed in a small subset of Drosophila melanogaster introns. However, detection of recursive splicing requires obser
Externí odkaz:
https://doaj.org/article/d0908a0b30c34360be862b7909c81a92
Publikováno v:
Journal of Pediatric Hematology/Oncology. 45:41-43
Hereditary hemolytic anemias are a heterogenous group of disorders that include membranopathies, enzymopathies, and hemoglobinopathies. Genetic testing is helpful in the diagnostic workup when the clinical and laboratory workup is not conclusive. Her
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfeac7bb3433f6b00f2bc5b36511534a
https://doi.org/10.1097/mph.0000000000002544
https://doi.org/10.1097/mph.0000000000002544
Autor:
Geoff Eaton, Kaitlyn Howden, Julie M. Deleemans, Alyson L. Mahar, Abha A Gupta, Karine Chalifour, Sapna Oberoi, Camille Glidden, Ian Scott, Adam Paul Yan, James M. Bolton, Razvan G. Romanescu, Sheila N Garland
Publikováno v:
Supportive Care in Cancer
Background Adolescents and young adults (AYAs) diagnosed with cancer are at an increased risk of experiencing social isolation and loneliness secondary to their cancer and its treatment. The physical distancing measures implemented during the COVID-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8fd1d08cbf5c7801611e240205386395
https://doi.org/10.1007/s00520-021-06628-5
https://doi.org/10.1007/s00520-021-06628-5
Publikováno v:
The Ochsner Journal
Background: Sickle cell disease (SCD) has a significant psychosocial impact on affected children. Summer camp has been shown to improve psychological and physical states for children with diabetes and cancer. However, opportunities to attend camp for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::702217b125b778afcdc22e49ad38d0c0
https://doi.org/10.31486/toj.20.0149
https://doi.org/10.31486/toj.20.0149
Autor:
Tara O. Henderson, Lindsay M. Morton, Michael M. Hawkins, Smita Bhatia, Paul C. Nathan, Adam Paul Yan, Jop C Teepen
Publikováno v:
Pediatric Clinics of North America. 67:1135-1154
The authors' objective is to provide a brief update on recent advances in knowledge relating to subsequent primary neoplasms developing in survivors of childhood cancer. This includes a summary of established large-scale cohorts, risks reported, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49b368e5d47ff6aa7294db3c122fcb8a
https://doi.org/10.1016/j.pcl.2020.07.006
https://doi.org/10.1016/j.pcl.2020.07.006
Autor:
Paul Yangho Park, Lauren Elizabeth Bleakley, Nadia Saraya, Reem Al-Jawahiri, Josefine Eck, Marc Anthony Aloi, Holly Melland, Kate Baker, Sarah Louise Gordon
Publikováno v:
EBioMedicine, Vol 109, Iss , Pp 105416- (2024)
Summary: Background: Pathogenic missense variants in the essential synaptic vesicle protein synaptotagmin-1 (SYT1) cause a neurodevelopmental disorder characterised by motor delay and intellectual disability, hyperkinetic movement disorder, episodic
Externí odkaz:
https://doaj.org/article/d0beee659cc34aa19b071a4a9701d3c3
Autor:
Ryan M. Mosavi-Hecht, Paul Yang, Barrett Heyer, Christopher R. Rosenberg, Elizabeth White, Elizabeth G. Berry, Robert M. Duvoisin, Catherine W. Morgans
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
Melanoma-associated retinopathy (MAR) is a paraneoplastic syndrome associated with cutaneous metastatic melanoma in which patients develop vision deficits that include reduced night vision, poor contrast sensitivity, and photopsia. MAR is caused by a
Externí odkaz:
https://doaj.org/article/339a26a8f1224ae285b4fe93ad29cdcf
Autor:
Balajikarthick Subramanian, Henry N. Higgs, Seth L. Alper, Chandra Perez-Gill, Justin Chun, Johannes Schlondorff, Martin R. Pollak, Isaac E. Stillman, Paul Yan
Publikováno v:
J Am Soc Nephrol
Background Mutations in the gene encoding inverted formin-2 (INF2), a member of the formin family of actin regulatory proteins, are among the most common causes of autosomal dominant FSGS. INF2 is regulated by interaction between its N-terminal diaph
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b8cdd8ad5284ff8c680b510ac712be4b
https://doi.org/10.1681/asn.2019050443
https://doi.org/10.1681/asn.2019050443
Publikováno v:
Pediatric bloodcancerREFERENCES. 69(8)
Progressive transformation of the germinal center (PTGC) is a common and underrecognized cause of pediatric lymphadenopathy. PTGC may be associated with numerous systemic medical conditions that require further workup and management, including malign
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::440e6dc848a43798647604fb189c19d3
https://pubmed.ncbi.nlm.nih.gov/35293684
https://pubmed.ncbi.nlm.nih.gov/35293684