Genotype‒phenotype correlation in recessive DNAJB4 myopathy

Autor: Michio Inoue, Divya Jayaraman, Rocio Bengoechea, Ankan Bhadra, Casie A. Genetti, Abdulrahman A. Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco, Almundher Al-Maawali, Nadia Al Hashmi, Ayşe Gül Zamani, Emine Göktaş, Sevgi Pekcan, Hanife Tuğçe Çağlar, Heather True, Alan H. Beggs, Conrad C. Weihl

Publikováno v: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-10 (2024)

Abstract Protein aggregate myopathies can result from pathogenic variants in genes encoding protein chaperones. DNAJB4 is a cochaperone belonging to the heat shock protein-40 (HSP40) family and plays a vital role in cellular proteostasis. Recessive l

Externí odkaz: https://doaj.org/article/e80b65429e294678b2ab23a55f25523b

Mild/asymptomatic COVID-19 in unvaccinated pregnant mothers impairs neonatal immune responses

Autor: Brianna M. Doratt, Suhas Sureshchandra, Heather True, Monica Rincon, Nicole E. Marshall, Ilhem Messaoudi

Publikováno v: JCI Insight, Vol 8, Iss 19 (2023)

Maternal SARS-CoV-2 infection triggers placental inflammation and alters cord blood immune cell composition. However, most studies focus on outcomes of severe maternal infection. Therefore, we analyzed cord blood and chorionic villi from newborns of

Externí odkaz: https://doaj.org/article/500fdc209fcf45b8bc9da69962e90f03

Mild/Asymptomatic Maternal SARS-CoV-2 Infection Leads to Immune Paralysis in Fetal Circulation and Immune Dysregulation in Fetal-Placental Tissues

Autor: Brianna M. Doratt, Suhas Sureshchandra, Heather True, Monica Rincon, Nicole Marshall, Ilhem Messaoudi

SUMMARYFew studies have addressed the impact of maternal mild/asymptomatic SARS-CoV-2 infection on the developing neonatal immune system. In this study, we analyzed umbilical cord blood and placental chorionic villi from newborns of unvaccinated moth

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a6b50752ab6476d2a306d0bee31b4764
https://doi.org/10.1101/2023.05.10.540233

SARS-CoV-2 Vaccine Booster Elicits Robust Prolonged Maternal Antibody Responses and Passive Transfer Via The Placenta And Breastmilk

Autor: Nicole E. Marshall, Madison B. Blanton, Brianna M. Doratt, Delphine C. Malherbe, Monica Rincon, Heather True, Taylor Mcdonald, Caroline Beauregard, Reuben Adatorwovor, Ilhem Messaoudi

Publikováno v: bioRxiv

BackgroundInfection during pregnancy can result in adverse outcomes for both pregnant persons and offspring. Maternal vaccination is an effective mechanism to protect both mother and neonate into post-partum. However, our understanding of passive tra

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::739a530c95f9e5758de0e6fefa9b397a
https://doi.org/10.1101/2022.11.29.518385

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Autor: Conrad C. Weihl, Ana Töpf, Rocio Bengoechea, Jennifer Duff, Richard Charlton, Solange Kapetanovic Garcia, Cristina Domínguez-González, Abdulaziz Alsaman, Aurelio Hernández-Laín, Luis Varona Franco, Monica Elizabeth Ponce Sanchez, Sarah J. Beecroft, Hayley Goullee, Jil Daw, Ankan Bhadra, Heather True, Michio Inoue, Andrew R. Findlay, Nigel Laing, Montse Olivé, Gianina Ravenscroft, Volker Straub

Publikováno v: ACTA NEUROPATHOLOGICA
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Acta Neuropathol

DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This identified

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::244a691706cb645a7b30177cc8485ecf
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13854