Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Patroula Smpokou"'
Autor:
Yuen Yi Hon, Jie Wang, Henrietta Abodakpi, Anand Balakrishnan, Michael Pacanowski, Sushanta Chakder, Patroula Smpokou, Kathleen Donohue, Yow‐Ming C. Wang
Publikováno v:
Clinical and Translational Science, Vol 16, Iss 12, Pp 2438-2457 (2023)
Abstract This paper summarizes key features of the dose‐finding strategies used in the development of 11 approved new molecular entities that are first‐in‐class enzyme replacement therapy (ERT), with a goal to gain insight into the dose explora
Externí odkaz:
https://doaj.org/article/1de7a515a1ad422dad1cb6819654c91f
Autor:
Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high do
Externí odkaz:
https://doaj.org/article/8721ed92ba104616bb40317896b771f5
Autor:
Mari Suzuki, Linda J.B. Jeng, Solomon Chefo, Yan Wang, Dionne Price, Xiaohui Li, Jie Wang, Ruo-Jing Li, Lian Ma, Yuching Yang, Xinyuan Zhang, Nan Zheng, Ke Zhang, David B. Joseph, Hitesh Shroff, Jenny Doan, Michael Pacanowski, Patroula Smpokou, Kathleen Donohue, Hylton V. Joffe
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
The U.S. Food and Drug Administration recently approved lonafarnib as the first treatment for Hutchinson-Gilford progeria syndrome (HGPS) and processing-deficient progeroid laminopathies. This approval was primarily based on a comparison of patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cde26b782cea7a7fc4a8e97e3842b05e
https://pubmed.ncbi.nlm.nih.gov/36507973
https://pubmed.ncbi.nlm.nih.gov/36507973
Autor:
Patroula Smpokou, Paula L. Hyland, Robert Lim, Wendy W. Wu, James L. Weaver, Michael Pacanowski
Publikováno v:
Clinical pharmacology and therapeutics. 112(1)
In vitro cell-based data can be used to support the extension of pharmaceutical approval to patient subsets with unique genetic variants. A set of conditions should be satisfied to support the extension of approval. The disease mechanism should be we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f745a488dfd02f1179ea1939fa0c2aa
https://pubmed.ncbi.nlm.nih.gov/34496049
https://pubmed.ncbi.nlm.nih.gov/34496049
Autor:
Chester B. Whitley, Lalitha Belur, Brian Bigger, Elizabeth Braunlin, Philip J. Brooks, Amber R. Brown, Brenda Diethelm-Okita, Roberto Giugliani, Jeanine R. Jarnes, Angela Meader, Jill A. Morris, Uma Ramaswami, Dawn C. Saterdalen, Maurizio Scarpa, Ellen Sidransky, Patroula Smpokou, Danilo Tagle
Publikováno v:
Molecular Genetics and Metabolism. 135:S1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b8db48098a33eabee816962d12a1d01
https://doi.org/10.1016/j.ymgme.2021.11.013
https://doi.org/10.1016/j.ymgme.2021.11.013
Autor:
Verena Kolbe, Bridget Russo, Heather Hanson, David A. Stevenson, Laura C. Baker, Nick Gardner, Gail E. Graham, David Viskochil, Karen W. Gripp, Georg Rosenberger, Patroula Smpokou, Deborah L. Stabley, Katia Sol-Church
Publikováno v:
American Journal of Medical Genetics Part A. 167:2085-2097
Heterozygous germline mutations in the proto-oncogene HRAS cause Costello syndrome (CS), an intellectual disability condition with severe failure to thrive, cardiac abnormalities, predisposition to tumors, and neurologic abnormalities. More than 80%
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c1965b40e6bbc99b51a3e991c3030865
https://doi.org/10.1002/ajmg.a.37128
https://doi.org/10.1002/ajmg.a.37128
Publikováno v:
Clinical Genetics. 88:516-522
Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with varia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::813ec5975d6e845c6caac654ed6a44b2
https://doi.org/10.1111/cge.12568
https://doi.org/10.1111/cge.12568
Autor:
Kimberly A. Chapman, Laura Cramp, Dina J. Zand, Sandra Yang, Gilbert Vezina, Patroula Smpokou, Jamie L. Fraser, Taeun Chang, Adeline Vanderver, Kristina Cusmano-Ozog, Uta Lichter-Konecki
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f14e72b7241992e9b52e873f2a98733
http://europepmc.org/articles/PMC5121315
http://europepmc.org/articles/PMC5121315
Publikováno v:
Journal of pediatric hematology/oncology. 38(8)
Childhood rhabdomyosarcoma (RMS) accounts for approximately 3.5% of cancer cases among children 0 to 14 years of age. Genetic conditions associated with high risk of childhood RMS include Li-Fraumeni syndrome, pleuropulmonary blastoma, Beckwith-Wiede
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ee943e7e8ccb3937cc8dcb4dbd6fc75
https://pubmed.ncbi.nlm.nih.gov/27258033
https://pubmed.ncbi.nlm.nih.gov/27258033
Autor:
Joseph T, Alaimo, Arnaud, Besse, Charlotte L, Alston, Ki, Pang, Vivek, Appadurai, Monisha, Samanta, Patroula, Smpokou, Robert, McFarland, Robert W, Taylor, Penelope E, Bonnen
Publikováno v:
Human Mutation
Iron–sulfur (Fe–S) clusters are essential cofactors for proteins that participate in fundamental cellular processes including metabolism, DNA replication and repair, transcriptional regulation, and the mitochondrial electron transport chain (ETC)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cc1d14c47918b3e3e15c3591ee8da871
https://pubmed.ncbi.nlm.nih.gov/29297947
https://pubmed.ncbi.nlm.nih.gov/29297947