Peanut Allergen Powder-dnfp: A Novel Oral Immunotherapy to Mitigate Peanut Allergy

Autor: Justin D Wagner, Megan C Stanton, John A Dougherty

Publikováno v: Annals of Pharmacotherapy. 55:344-353

Objective To review data on efficacy and safety of peanut allergen powder-dnfp (PAP; Palforzia), a novel oral immunotherapy for peanut allergy, a common food allergy. Data Sources A PubMed/CINAHL search in English was performed from inception to June

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e608191a94c9ed542d1c2a0958fb3bc6
https://doi.org/10.1177/1060028020944370

Compound heterozygous mutations in the gene PIGP are associated with early infantile epileptic encephalopathy

Autor: Taila Hartley, Thi-Tuyet-Mai Nguyen, Jacek Majewski, Anik St-Denis, Philippe M. Campeau, David A. Dyment, Taroh Kinoshita, Françoise Le Deist, Devon L. Johnstone, Yoshiko Murakami, Asif Doja, Claire Goldsmith, Martine Tétreault, Justin D. Wagner, Kym M. Boycott, Kristin D. Kernohan, Dennis E. Bulman, Lijia Huang

Publikováno v: Human Molecular Genetics. 26:1706-1715

There are over 150 known human proteins which are tethered to the cell surface via glycosylphosphatidylinositol (GPI) anchors. These proteins play a variety of important roles in development, and particularly in neurogenesis. Not surprisingly, mutati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::965fa0c3eaa94e5d578facedbdfec4f5
https://doi.org/10.1093/hmg/ddx077

De Novo Mutations in the Motor Domain of KIF1A Cause Cognitive Impairment, Spastic Paraparesis, Axonal Neuropathy, and Cerebellar Atrophy

Autor: Fadi F. Hamdan, Karin M E J Oberndorff, Eunjoon Kim, Randal Richardson, Guy A. Rouleau, Jae-Ran Lee, Rocio Moran, Henna Tyynismaa, Elisa Rahikkala, Nienke E. Verbeek, Doyoun Kim, Catherine Brunel-Guitton, So Hee Lim, Joost Nicolai, Tjitske Kleefstra, Sonja A. de Munnik, Michèl A.A.P. Willemsen, Connie T.R.M. Stumpel, Allison Schreiber, Kym M. Boycott, Justin D. Wagner, Jean Claude Décarie, Grant A. Mitchell, Elsa Rossignol, Jacques L. Michaud, Nella Junna, Inge Cuppen, Keith Van Haren, Myriam Srour, Erik-Jan Kamsteeg

Publikováno v: Human Mutation, 36, 1, pp. 69-78
Human Mutation, 36(1), 69. Wiley-Liss Inc.
Human Mutation, 36, 69-78
Human Mutation, 36(1), 69-78. Wiley

Item does not contain fulltext KIF1A is a neuron-specific motor protein that plays important roles in cargo transport along neurites. Recessive mutations in KIF1A were previously described in families with spastic paraparesis or sensory and autonomic

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d54bfe832a35a7c9aa8c8ccc7801298e
https://doi.org/10.1002/humu.22709

Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature

Autor: Justin D. Wagner, Erick Sell, Daniela Pohl, David A. Dyment, Hussein Daoud, Stephanie M. Luco

Publikováno v: BMC Medical Genetics

Background Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrome characterized by microcep

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::411e2395d160578de5f9b67ae77f9b1c
http://europepmc.org/articles/PMC4769499

Homozygous mutations in MFN2 cause multiple symmetric lipomatosis associated with neuropathy

Autor: Martine Tétreault, Garth A. Nicholson, A. Micheil Innes, David A. Dyment, Sarah L. Sawyer, Justin D. Wagner, Kym M. Boycott, Andy Cheuk-Him Ng, Robert A. Screaton, Jacek Majewski

Publikováno v: Human molecular genetics. 24(18)

Multiple symmetric lipomatosis (MSL) is a mitochondrial disorder with impaired brown fat metabolism that has been associated with MERRF mutations in some, but not all, patients. We studied a sibling pair and an unrelated indiviadual who presented wit

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bff7f1647b6877f6475b7cf3fb09c2df
https://pubmed.ncbi.nlm.nih.gov/26085578