P044: Congenital erythropoietic porphyria: Disease recurrence after hematopoietic stem cell transplantation

Autor: Angelika Erwin, Allison Schreiber, Robert Desnick

Publikováno v: Genetics in Medicine Open, Vol 2, Iss , Pp 100921- (2024)

Externí odkaz: https://doaj.org/article/70fcd118973540718f2f920adcc483a7

TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development

Autor: Mari Rossi, Melissa K. Gabriel, Rolph Pfundt, Ange Line Bruel, Sonal Mahida, Daniel Groepper, Kristin W. Barañano, Tjitske Kleefstra, Saskia Brulleman, Charlotte de Konink, Angelika Erwin, Aida Telegrafi, Kristin Lindstrom, Amy Blevins, Marjon van Slegtenhorst, Katherine G. Langley, David A. Koolen, Geeske M. van Woerden, Anna Chassevent, Louisa Kalsner, A. Micheil Innes, Ype Elgersma, David R. FitzPatrick, Kristin G. Monaghan, Allison Goodwin, Ben Distel, Karen W. Gripp, Alice S. Brooks, Natasha Shur, Fatima Rehman, Rossella Avagliano Trezza, Amanda Noyes, Melanie Bos, Jane Juusola, Gwynna de Geus, Jennifer B. Humberson, Andrew O.M. Wilkie, Jessica Hoffman, Marleen Simon, David Johnson, Róisín McCormack, Sumit Punj, Maria J. Guillen Sacoto, Julie Fleischer, Eduardo Calpena, Arthur Sorlin, Allison Schreiber

Publikováno v: Human Mutation, 42(4), 445-459. Wiley-Liss Inc.
Human Mutation, 42, 445-459
Human Mutation, 42, 4, pp. 445-459
Human Mutation
Human mutation, 42(4), 445-459. Wiley-Liss Inc.

Thousand and one amino‐acid kinase 1 (TAOK1) is a MAP3K protein kinase, regulating different mitogen‐activated protein kinase pathways, thereby modulating a multitude of processes in the cell. Given the recent finding of TAOK1 involvement in neur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd52b60cd16ed1747221a17833ce9f16
http://www.scopus.com/inward/record.url?scp=85101812177&partnerID=8YFLogxK

Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium

Autor: Brendan M. McGuire, Robert J. Desnick, Herbert L. Bonkovsky, Bruce Wang, Behnam Saberi, Karl E. Anderson, Hetanshi Naik, Angelika Erwin, D. Montgomery Bissell, Manisha Balwani, Ashwani K. Singal, Jessica Overbey, John D. Phillips

Publikováno v: Hepatology. 73:1736-1746

BACKGROUND AND AIMS The risk for hepatocellular carcinoma (HCC) is increased in acute hepatic porphyrias (AHP). The aim of this study was to explore the clinicopathologic characteristics, outcomes, and frequency of HCC in patients with AHP in the Uni

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::96df36f5bd02497d647a5ab4c9d61233
https://doi.org/10.1002/hep.31460

Psychometric Properties of the Patient Reported Outcomes Measurement Information System (PROMIS) Scales in Acute Intermittent Porphyria Patients

Autor: Hetanshi Naik, Guy H. Montgomery, Jessica R. Overbey, Gary Winkel, Karl E. Anderson, Manisha Balwani, Bruce Wang, Brendan McGuire, Herbert L. Bonkovsky, Sioban Keel, Cynthia Levy, Angelika Erwin, John D. Phillips, Robert J. Desnick

Background: Acute Intermittent Porphyria (AIP) is a rare inborn error of heme biosynthesis characterized clinically by life-threatening acute neurovisceral attacks. Few studies have assessed quality of life (QoL) tools in the AIP population, and none

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7a4837df1df842ebec9d43540430c482
https://doi.org/10.21203/rs.3.rs-1393058/v1

Chromosome 3p Inverted Duplication with Terminal Deletion: Second Postnatal Case Report with Additional Clinical Features

Autor: Angelika Erwin, Jacquelyn D. Riley, Caroline Astbury, Catherine M. Stefaniuk, Francine Erenberg, Lauren Palange

Publikováno v: Case Reports in Genetics
Case Reports in Genetics, Vol 2019 (2019)

Distal deletions and duplications of 3p are individually well-characterized chromosome abnormalities. Here, we report an inverted duplication of 3p with an adjacent terminal 3p deletion in a 17-month-old girl who had prenatal intrauterine growth rest

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff323e7c94e4957b2480c470fa087333
https://doi.org/10.1155/2019/5384295