Incidental melanoma and thyroid cancer lead to diagnosis of Lynch syndrome and endometrial cancer: A case report

Autor: Molly E. Kuo, BS, Emily H. Smith, MD, Jaclyn Plotzke, MD, May Chan, MD, Tobias Else, MD, Kelly B. Cha, MD, PhD

Publikováno v: JAAD Case Reports, Vol 51, Iss , Pp 66-68 (2024)

Externí odkaz: https://doaj.org/article/406708b0de76442d8c4f18e906dcb642

Skin-limited Langerhans cell histiocytosis in an adult presenting as isolated, eroded, 'kissing' intergluteal plaques

Autor: Molly E. Kuo, BS, Andrew Schuler, MD, Asra Ahmed, MD, Emily Smith, MD, Frank Wang, MD

Publikováno v: JAAD Case Reports, Vol 42, Iss , Pp 16-19 (2023)

Externí odkaz: https://doaj.org/article/c1c1b4716c5941cf9bde9a28435193bb

Infectious pseudochromhidrosis in the setting of dupilumab use

Autor: Molly E. Kuo, Naomi F. Briones, Yolanda R. Helfrich

Publikováno v: JAAD Case Reports. 25:27-29

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f99a788939ed8574aa35418224f2f7ae
https://doi.org/10.1016/j.jdcr.2022.05.007

Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails

Autor: Grazia M.S. Mancini, Wim Vermeulen, Rebecca Meyer-Schuman, Marjon van Slegtenhorst, Marisa I. Mendes, Catherine Groden, Shino Shimada, Thomas Christian, Anja Raams, Desirée E.C. Smith, Ya-Ming Hou, L.M. Hussaarts-Odijk, Gajja S. Salomons, May Christine V. Malicdan, Martina Wilke, Molly E. Kuo, Eric van der Meijden, Anthony Antonellis, Arjan F. Theil, William A. Gahl, Frans W. Verheijen, Anneke Kievit, Wendy J. Introne

Publikováno v: Kuo, M E, Theil, A F, Kievit, A, Malicdan, M C, Introne, W J, Christian, T, Verheijen, F W, Smith, D E C, Mendes, M I, Hussaarts-Odijk, L, van der Meijden, E, van Slegtenhorst, M, Wilke, M, Vermeulen, W, Raams, A, Groden, C, Shimada, S, Meyer-Schuman, R, Hou, Y M, Gahl, W A, Antonellis, A, Salomons, G S & Mancini, G M S 2019, ' Cysteinyl-tRNA Synthetase Mutations Cause a Multi-System, Recessive Disease That Includes Microcephaly, Developmental Delay, and Brittle Hair and Nails ', American journal of human genetics, vol. 104, no. 3, pp. 520-529 . https://doi.org/10.1016/j.ajhg.2019.01.006
American journal of human genetics, 104(3), 520-529. Cell Press
American Journal of Human Genetics, 104(3), 520-529. Cell Press

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes responsible for charging tRNA molecules with cognate amino acids. Consistent with the essential function and ubiquitous expression of ARSs, mutations in 32 of the 37 ARS-encoding loci cause seve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2d8d271dba76b194308ad16b8fa219
https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85062280875&origin=inward

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multi-system ataxic syndrome

Autor: Alessandro Filla, Patrick Mullen, Molly E. Kuo, Maria Lieto, Daniele Galatolo, Rebecca Meyer-Schuman, Alessandra Tessa, Christopher S. Francklyn, Filippo M. Santorelli, Roberta Battini, Anthony Antonellis, Stefano Doccini

Publikováno v: Hum Mutat

Mutations in histidyl-tRNA synthetase (HARS1), an enzyme that charges transfer RNA with the amino acid histidine in the cytoplasm, have only been associated to date with autosomal recessive Usher syndrome type III and autosomal dominant Charcot-Marie

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ab9f94c1bda0b32cb60d49e7adbf599
https://europepmc.org/articles/PMC7323910/