Výsledky vyhledávání - "Tippi C, Mackenzie"

Akademický článek

Prenatal AAV9-GFP administration in fetal lambs results in transduction of female germ cells and maternal exposure to virus

Autor: Beltran Borges, Antonia Varthaliti, Marisa Schwab, Maria T. Clarke, Christopher Pivetti, Nalin Gupta, Cathryn R. Cadwell, Ghiabe Guibinga, Shirley Phillips, Tony Del Rio, Fatih Ozsolak, Denise Imai-Leonard, Lingling Kong, Diana J. Laird, Akos Herzeg, Charlotte J. Sumner, Tippi C. MacKenzie

Publikováno v: Molecular Therapy: Methods & Clinical Development, Vol 32, Iss 2, Pp 101263- (2024)

Prenatal somatic cell gene therapy (PSCGT) could potentially treat severe, early-onset genetic disorders such as spinal muscular atrophy (SMA) or muscular dystrophy. Given the approval of adeno-associated virus serotype 9 (AAV9) vectors in infants wi

Externí odkaz: https://doaj.org/article/d01f9d171e174897be32403a75098f3a

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Akademický článek

Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients

Autor: Marisa E. Schwab, Julia E. H. Brown, Billie Lianoglou, Chengshi Jin, Patricia C. Conroy, Renata C. Gallagher, Paul Harmatz, Tippi C. MacKenzie

Publikováno v: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)

Abstract Background Lysosomal storage diseases (LSDs) are inherited metabolic disorders that may lead to severe multi-organ disease. Current ERTs are limited by anti-drug antibodies, the blood–brain barrier, and early disease onset and progression

Externí odkaz: https://doaj.org/article/26b2ae6f02f64042b5ae5b03889d8f10

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Akademický článek

Detection of microbial cell-free DNA in maternal and umbilical cord plasma in patients with chorioamnionitis using next generation sequencing.

Autor: Russell G Witt, Lily Blair, Michela Frascoli, Michael J Rosen, Quoc-Hung Nguyen, Sivan Bercovici, Simona Zompi, Roberto Romero, Tippi C Mackenzie

Publikováno v: PLoS ONE, Vol 15, Iss 4, p e0231239 (2020)

BACKGROUND:Chorioamnionitis has been linked to spontaneous preterm labor and complications such as neonatal sepsis. We hypothesized that microbial cell-free (cf) DNA would be detectable in maternal plasma in patients with chorioamnionitis and could b

Externí odkaz: https://doaj.org/article/71a0b2f372e44344b08121971c2d35e0

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Exome sequencing of fetuses with congenital diaphragmatic hernia supports a causal role for NR2F2, PTPN11, and WT1 variants

Autor: Stephen Sanders, Billie R. Lianoglou, Tippi C. MacKenzie, Shan Dong, Mary E. Norton, Marisa E. Schwab, Alessandra F. Aguilar Lucero, Grace Schwartz

Publikováno v: The American Journal of Surgery. 223:182-186

Background To identify genes associated with congenital diaphragmatic hernia (CDH) to help understand the etiology and inform prognosis. Methods We performed exome sequencing on fetuses with CDH and their parents to identify rare genetic variants lik

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8143b14c302806723876feb97757c853
https://doi.org/10.1016/j.amjsurg.2021.07.016

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In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease

Publikováno v: The New England journal of medicine. 387(23)

Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e493405f2c4ea067d78089c3ebd715f7
https://pubmed.ncbi.nlm.nih.gov/36351280

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Prenatal Somatic Cell Gene Therapies: Charting a Path Toward Clinical Applications (Proceedings of the CERSI-FDA Meeting)

Autor: Akos Herzeg, Graça Almeida‐Porada, R. Alta Charo, Anna L. David, Juan Gonzalez‐Velez, Nalin Gupta, Larissa Lapteva, Billie Lianoglou, William Peranteau, Christopher Porada, Stephan J. Sanders, Teresa N. Sparks, David H. Stitelman, Evi Struble, Charlotte J. Sumner, Tippi C. MacKenzie

Publikováno v: Journal of clinical pharmacology. 62

We are living in a golden age of medicine in which the availability of prenatal diagnosis, fetal therapy, and gene therapy/editing make it theoretically possible to repair almost any defect in the genetic code. Furthermore, the ability to diagnose ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::58d46518c36d83bf98223efde6681732
https://pubmed.ncbi.nlm.nih.gov/36106778

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