Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Amber E. Kofman"'
Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP
Autor:
Hilary S. McElligott, Aleksandra Laboski, Defne Magnetta, Alfred L. George, Elizabeth M. McNally, Amber E. Kofman, Gregory Webster, Nicoleta C. Arva, Meredith A Reynolds, Lisa Dellefave-Castillo, Megan J. Puckelwartz
Publikováno v:
Am J Med Genet A
Patients with biallelic mutations in the nuclear-encoded mitochondrial gene C1QBP/p32 have been described with syndromic features and autosomal recessive cardiomyopathy. We describe the clinical course in two siblings who developed cardiomyopathy and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e50e14fe6155ec92589ff56f4bfb31d
https://doi.org/10.1002/ajmg.a.62262
https://doi.org/10.1002/ajmg.a.62262
Autor:
Alexander Ing, Megan J. Puckelwartz, Amber E. Kofman, Alfred L. George, Steven M. White, Elizabeth M. McNally, Nora Ibrahim, Patrick Page, Samuel Kearns, Sabah Kadri, Gregory Webster, Dellefave-Castillo Lisa, Kai Lee Yap, Carlos G. Vanoye, Tess D. Pottinger, Casey Brew, Ponni Arunkumar, Lorenzo L. Pesce, Rachael Olson
Publikováno v:
Circulation. 142
Introduction: Genetic testing after sudden death in the young can identify pathogenic cardiac gene variants. Hypothesis: Genomic methods, coupled with phenotype evaluation, reveal non-Mendalian risks. Methods: We conducted clinical analysis and whole
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c7829525e9051d05b5f2abbb6e58612c
https://doi.org/10.1161/circ.142.suppl_3.16066
https://doi.org/10.1161/circ.142.suppl_3.16066
Autor:
Jan Hermen Dannenberg, Ronald A. DePinho, Christopher J. Payne, Robert E. Braun, Jessica M. Huszar, Amber E. Kofman, Shannon J. Gallagher
Publikováno v:
Developmental biology. 373(1)
Chromatin modifier Swi-independent 3a (SIN3A), together with associated histone deacetylases, influences gene expression during development and differentiation through a variety of transcription factors in a cell-specific manner. Sin3a is essential f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c44786f4f34660cd0225634d2f10cfd7
https://pubmed.ncbi.nlm.nih.gov/23085237
https://pubmed.ncbi.nlm.nih.gov/23085237
Publikováno v:
Stem cell reviews and reports. 9(1)
The differentiation of adult stem cells involves extensive chromatin remodeling, mediated in part by the gene products of histone deacetylase (HDAC) family members. While the transcriptional downregulation of HDACs can impede stem cell self-renewal i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16ce1a817790de0c86a3c7d7ee0ff0f9
https://pubmed.ncbi.nlm.nih.gov/22729928
https://pubmed.ncbi.nlm.nih.gov/22729928
Publikováno v:
Aging (Albany NY)
Balancing quiescence with proliferation is of paramount importance for adult stem cells in order to avoid hyperproliferation and cell depletion. In some models, stem cell exhaustion may be reversed with the drug rapamycin, which was shown can suppres
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b60c889fc6e61acbff05cdcdb161c55f
https://pubmed.ncbi.nlm.nih.gov/22529334
https://pubmed.ncbi.nlm.nih.gov/22529334