Výsledky vyhledávání - "Marisa Apicella"

Akademický článek

Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients.

Autor: Bai-Wei Gu, Marisa Apicella, Jason Mills, Jian-Meng Fan, Dara A Reeves, Deborah French, Gregory M Podsakoff, Monica Bessler, Philip J Mason

Publikováno v: PLoS ONE, Vol 10, Iss 5, p e0127414 (2015)

Dyskeratosis congenita (DC) is an inherited bone marrow failure syndrome characterized by the presence of short telomeres at presentation. Mutations in ten different genes, whose products are involved in the telomere maintenance pathway, have been sh

Externí odkaz: https://doaj.org/article/fa25a414ee30444c817c0548126284fa

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Akademický článek

Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia.

Autor: Jingping Ge, Marisa Apicella, Jason A Mills, Loïc Garçon, Deborah L French, Mitchell J Weiss, Monica Bessler, Philip J Mason

Publikováno v: PLoS ONE, Vol 10, Iss 8, p e0134878 (2015)

Diamond Blackfan Anemia (DBA) is an inherited bone marrow failure syndrome with clinical features of red cell aplasia and variable developmental abnormalities. Most affected patients have heterozygous loss of function mutations in ribosomal protein g

Externí odkaz: https://doaj.org/article/75d99552ab144d2ba76c4a5f76c95348

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Ribosomal and hematopoietic defects in induced pluripotent stem cells derived from Diamond Blackfan anemia patients

Autor: Loïc Garçon, Marisa Apicella, Monica Bessler, Philip J. Mason, Paul Gadue, Gregory M. Podsakoff, Mitchell J. Weiss, Shefali Parikh, Deborah L. French, Shwetha Manjunath, Jason A. Mills, Jingping Ge, Lisa M. Sullivan

Publikováno v: Blood. 122:912-921

Diamond Blackfan anemia (DBA) is a congenital disorder with erythroid (Ery) hypoplasia and tissue morphogenic abnormalities. Most DBA cases are caused by heterozygous null mutations in genes encoding ribosomal proteins. Understanding how haploinsuffi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd383c610ccceb0f1f87d0b32b83e722
https://doi.org/10.1182/blood-2013-01-478321

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Teratogenic Potential in Cultures Optimized for Oligodendrocyte Development from Mouse Embryonic Stem Cells

Autor: Mary E. Kiel, Dorota Sadowski, Marisa Apicella, Randall D. McKinnon, Cui Ping Chen, Aileen G. Arriola

Publikováno v: Stem Cells and Development. 19:1343-1353

We describe a rapid and efficient 5-step program of defined factors for the genesis of brain myelin-forming oligodendrocytes (OLs) from embryonic stem cells (ESCs). The OLs emerge on the same time frame in vitro as seen in vivo. Factors promoting neu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1756b8a19232df210fad479bf15c812f
https://doi.org/10.1089/scd.2009.0520

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Impaired Telomere Maintenance and Decreased Canonical WNT Signaling but Normal Ribosome Biogenesis in Induced Pluripotent Stem Cells from X-Linked Dyskeratosis Congenita Patients

Autor: Monica Bessler, Bai-Wei Gu, Philip J. Mason, Marisa Apicella, Dara A. Reeves, Jason A. Mills, Gregory M. Podsakoff, Deborah L. French, Jian-Meng Fan

Publikováno v: PLoS ONE
PLoS ONE, Vol 10, Iss 5, p e0127414 (2015)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e033b124a67e9ac15a872d2027693a78
https://doi.org/10.1371/journal.pone.0127414

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Phenotypic Rescue Of Induced Pluripotent Stem Cells From Dyskeratosis Congenita Patients By Ectopic Expression Of DKC1 But Not TERC

Autor: Philip J. Mason, Monica Bessler, Bai-Wei Gu, Marisa Apicella, Jason A. Mills, Deborah L. French, Jian-Meng Fan

Publikováno v: Blood. 122:2468-2468

Telomerase is a ribonucleoprotein that adds telomeric repeats onto the chromosome ends, preventing the replication-dependent loss of telomere repeats and cellular senescence in highly proliferative germ-line cells and in stem cells and cancer cells.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::c3db6f54d73eeafacdece54dce9bc339
https://doi.org/10.1182/blood.v122.21.2468.2468

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Ips Cell Lines From Members Of a Family With Variable Penetrance Of An RPS19 Mutation Recapitulate The Diamond Blackfan Anemia (DBA) Phenotype and Show Differences In Ribosome Biogenesis and TGF Beta Signaling

Autor: Jingping Ge, Marisa Apicella, Shwetha Manjunath, Jason A. Mills, Loïc Garçon, Gregory M. Podsakoff, Deborah L. French, Mitchell J. Weiss, Monica Bessler, Philip J. Mason

Publikováno v: Blood. 122:1224-1224

DBA is an inherited bone marrow failure syndrome that usually presents in the first year of life with red cell aplasia and variable developmental abnormalities. Most affected patients have heterozygous loss of function mutations in one of 11 genes en

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::b4c818c8c5c5774e4394625d9a3b6925
https://doi.org/10.1182/blood.v122.21.1224.1224

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