Zobrazeno 1 - 10
of 179
pro vyhledávání: '"R DePalma"'
Autor:
Jennifer I-Hsiu Li, Sean D. Johnson, Erin Boettcher, Sebastiano Cantalupo, Hsiao-Wen Chen, Mandy C. Chen, David R. DePalma, Zhuoqi (Will) Liu, Nishant Mishra, Patrick Petitjean, Zhijie Qu, Gwen C. Rudie, Joop Schaye, Fakhri S. Zahedy
Publikováno v:
The Astrophysical Journal, Vol 965, Iss 2, p 143 (2024)
We investigate the group-scale environment of 15 luminous quasars (luminosity L _3000 > 10 ^46 erg s ^−1 ) from the Cosmic Ultraviolet Baryon Survey (CUBS) at redshift z ≈ 1. Using the Multi Unit Spectroscopic Explorer integral field spectrograph
Externí odkaz:
https://doaj.org/article/e72783ecc2704987a7c0f347b4a3d640
Autor:
Alejandro Martin-Trujillo, Nihir Patel, Felix Richter, Bharati Jadhav, Paras Garg, Sarah U Morton, David M McKean, Steven R DePalma, Elizabeth Goldmuntz, Dorota Gruber, Richard Kim, Jane W Newburger, George A Porter, Alessandro Giardini, Daniel Bernstein, Martin Tristani-Firouzi, Jonathan G Seidman, Christine E Seidman, Wendy K Chung, Bruce D Gelb, Andrew J Sharp
Publikováno v:
PLoS Genetics, Vol 16, Iss 11, p e1009189 (2020)
Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profiles might be dictated by cis-reg
Externí odkaz:
https://doaj.org/article/7a65eca1218d4480a5e676161b9f759c
GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm
Autor:
Arun Sharma, Lauren K Wasson, Jon AL Willcox, Sarah U Morton, Joshua M Gorham, Daniel M DeLaughter, Meraj Neyazi, Manuel Schmid, Radhika Agarwal, Min Young Jang, Christopher N Toepfer, Tarsha Ward, Yuri Kim, Alexandre C Pereira, Steven R DePalma, Angela Tai, Seongwon Kim, David Conner, Daniel Bernstein, Bruce D Gelb, Wendy K Chung, Elizabeth Goldmuntz, George Porter, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, Pediatric Cardiac Genomics Consortium
Publikováno v:
eLife, Vol 9 (2020)
Damaging GATA6 variants cause cardiac outflow tract defects, sometimes with pancreatic and diaphragmic malformations. To define molecular mechanisms for these diverse developmental defects, we studied transcriptional and epigenetic responses to GATA6
Externí odkaz:
https://doaj.org/article/de48ca73426c4e9e8cd88b2b87f1b9e5
Autor:
Radhika Agarwal, Hiroko Wakimoto, Joao A. Paulo, Qi Zhang, Daniel Reichart, Christopher Toepfer, Arun Sharma, Angela C. Tai, Mingyue Lun, Joshua Gorham, Steven R. DePalma, Steven P. Gygi, J.G. Seidman, Christine E. Seidman
Publikováno v:
Circulation. 146:1674-1693
Background: ALPK3 encodes α-kinase 3, a muscle-specific protein of unknown function. ALPK3 loss-of-function variants cause cardiomyopathy with distinctive clinical manifestations in both children and adults, but the molecular functions of ALPK3 rema
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f935bbe4d6c97221fd71da910ae07f0a
https://doi.org/10.1161/circulationaha.122.059688
https://doi.org/10.1161/circulationaha.122.059688
Autor:
Min Young Jang, Parth N. Patel, Alexandre C. Pereira, Jon A.L. Willcox, Alireza Haghighi, Angela C. Tai, Kaoru Ito, Sarah U. Morton, Joshua M. Gorham, David M. McKean, Steven R. DePalma, Daniel Bernstein, Martina Brueckner, Wendy K. Chung, Alessandro Giardini, Elizabeth Goldmuntz, Jonathan R. Kaltman, Richard Kim, Jane W. Newburger, Yufeng Shen, Deepak Srivastava, Martin Tristani-Firouzi, Bruce D. Gelb, George A. Porter, Christine E. Seidman, Jonathan G. Seidman
Publikováno v:
Circulation: Genomic and Precision Medicine.
BACKGROUND: Known genetic causes of congenital heart disease (CHD) explain METHODS: We tested de novo variants from trio studies of 2649 CHD probands and their parents, as well as rare (allele frequency, − 6 ) variants from 4472 CHD probands in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3850b1978608906ee6433dfae530c335
https://doi.org/10.1161/circgen.122.003924
https://doi.org/10.1161/circgen.122.003924
Autor:
David M. McKean, Jason Homsy, Hiroko Wakimoto, Neil Patel, Joshua Gorham, Steven R. DePalma, James S. Ware, Samir Zaidi, Wenji Ma, Nihir Patel, Richard P. Lifton, Wendy K. Chung, Richard Kim, Yufeng Shen, Martina Brueckner, Elizabeth Goldmuntz, Andrew J. Sharp, Christine E. Seidman, Bruce D. Gelb, J. G. Seidman
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-9 (2016)
Congenital heart disease (CHD) is a disorder that occurs in ∼1% of live births. Here the authors describe a genome-wide allele-specific expression analyses in CHD patients, identifying five new genes involved in CHD and showing that paternally-expr
Externí odkaz:
https://doaj.org/article/b181fb4180d74c2d91f9090c30c74f4a
Autor:
Joshua M. Gorham, Christine E. Seidman, Christopher S. Chen, Jonathan G. Seidman, Subramanian Sundaram, Christopher N. Toepfer, Radhika Agarwal, Jourdan K. Ewoldt, Steven P. Gygi, Joao A. Paulo, Steven R. DePalma, Qi Zhang, Anant Chopra
Publikováno v:
Circ Res
Rationale: Dominant heterozygous variants in filamin C ( FLNC ) cause diverse cardiomyopathies, although the underlying molecular mechanisms remain poorly understood. Objective: We aimed to define the molecular mechanisms by which FLNC variants alter
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d52388e1e32f951f89c01d30cc4b3c6
https://doi.org/10.1161/circresaha.120.317076
https://doi.org/10.1161/circresaha.120.317076
Autor:
Daniel Quiat, Andrew T. Timberlake, Justin J. Curran, Michael L. Cunningham, Barbara McDonough, Maria A. Artunduaga, Steven R. DePalma, Milagros M. Duenas-Roque, Joshua M. Gorham, Jonas A. Gustafson, Usama Hamdan, Anne V. Hing, Paula Hurtado-Villa, Yamileth Nicolau, Gabriel Osorno, Harry Pachajoa, Gloria L. Porras-Hurtado, Lourdes Quintanilla-Dieck, Luis Serrano, Melissa Tumblin, Ignacio Zarante, Daniela V. Luquetti, Roland D. Eavey, Carrie L. Heike, Jonathan G. Seidman, Christine E. Seidman
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics. 25(1)
Craniofacial microsomia (CFM) represents a spectrum of craniofacial malformations, ranging from isolated microtia with or without aural atresia to underdevelopment of the mandible, maxilla, orbit, facial soft tissue, and/or facial nerve. The genetic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::255fcb447561e47784a9098764ba9e65
https://pubmed.ncbi.nlm.nih.gov/36260083
https://pubmed.ncbi.nlm.nih.gov/36260083
Autor:
Daniel, Quiat, Seong Won, Kim, Qi, Zhang, Sarah U, Morton, Alexandre C, Pereira, Steven R, DePalma, Jon A L, Willcox, Barbara, McDonough, Daniel M, DeLaughter, Joshua M, Gorham, Justin J, Curran, Melissa, Tumblin, Yamileth, Nicolau, Maria A, Artunduaga, Lourdes, Quintanilla-Dieck, Gabriel, Osorno, Luis, Serrano, Usama, Hamdan, Roland D, Eavey, Christine E, Seidman, J G, Seidman
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America. 119(21)
Microtia is a congenital malformation that encompasses mild hypoplasia to complete loss of the external ear, or pinna. Although the contribution of genetic variation and environmental factors to microtia remains elusive, Amerindigenous populations ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b27d3e53278ed2af4f5b3a817d416e98
https://pubmed.ncbi.nlm.nih.gov/35584116
https://pubmed.ncbi.nlm.nih.gov/35584116
Autor:
Daniel Bernstein, Martin Tristani-Firouzi, Jane W. Newburger, Sarah U. Morton, Diane E. Dickel, Lauren K. Wasson, Seong Won Kim, Jonathan G. Seidman, Martina Brueckner, Hongjian Qi, Elizabeth Goldmuntz, George A. Porter, Eric E. Schadt, Olga G. Troyanskaya, Kathryn B. Manheimer, Jian Zhou, Jason Homsy, Michael Parfenov, Steven R. DePalma, Bruce D. Gelb, Andrew Farrell, Alexander Kitaygorodsky, Matt Velinder, Gabor T. Marth, Richard B. Kim, Nihir Patel, Jonathan R. Kaltman, Felix Richter, Deepak Srivastava, Kathleen M. Chen, Yufeng Shen, Joshua M. Gorham, Christine E. Seidman, Alessandro Giardini, Wendy K. Chung
Publikováno v:
Nature Genetics. 52:769-777
A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f24be7160476aa52e32f103edff9347b
https://doi.org/10.1038/s41588-020-0652-z
https://doi.org/10.1038/s41588-020-0652-z