Zobrazeno 1 - 10
of 228
pro vyhledávání: '"Brett H Graham"'
Autor:
Benjamin M. Helm, Lindsey R. Helvaty, Erin Conboy, Gabrielle C. Geddes, Brett H. Graham, Melissa Lah, Leah Wetherill, Benjamin J. Landis, Stephanie M. Ware
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 11, Pp n/a-n/a (2024)
ABSTRACT Background Dysmorphology evaluation is important for congenital heart disease (CHD) assessment, but there are no prior investigations quantifying the screening performance compared to standardized genetics evaluations. We investigated this t
Externí odkaz:
https://doaj.org/article/551b950817c64a61b3f25def3273b75d
Autor:
Makayla S. Lancaster, Byungwook Kim, Emma H. Doud, Mason D. Tate, Ahmad D. Sharify, Hongyu Gao, Duojiao Chen, Ed Simpson, Patrick Gillespie, Xiaona Chu, Marcus J. Miller, Yue Wang, Yunlong Liu, Amber L. Mosley, Jungsu Kim, Brett H. Graham
Publikováno v:
Cell Reports, Vol 42, Iss 10, Pp 113241- (2023)
Summary: Lysine succinylation is a subtype of protein acylation associated with metabolic regulation of succinyl-CoA in the tricarboxylic acid cycle. Deficiency of succinyl-CoA synthetase (SCS), the tricarboxylic acid cycle enzyme catalyzing the inte
Externí odkaz:
https://doaj.org/article/3667fe089082442185bcfa19a5753f0c
Untargeted Metabolomics of Slc13a5 Deficiency Reveal Critical Liver–Brain Axis for Lipid Homeostasis
Autor:
Sofia Milosavljevic, Kevin E. Glinton, Xiqi Li, Cláudia Medeiros, Patrick Gillespie, John R. Seavitt, Brett H. Graham, Sarah H. Elsea
Publikováno v:
Metabolites, Vol 12, Iss 4, p 351 (2022)
Though biallelic variants in SLC13A5 are known to cause severe encephalopathy, the mechanism of this disease is poorly understood. SLC13A5 protein deficiency reduces citrate transport into the cell. Downstream abnormalities in fatty acid synthesis an
Externí odkaz:
https://doaj.org/article/e32e6342040b41ca94d5665fb28d87e4
Autor:
Geetali Pradhan, Jong Han Lee, Chia-Shan Wu, Hongying Wang, Ligen Lin, Taraka Donti, Brett H. Graham, Arun S. Rajan, Ashok Balasubramanyam, Susan L. Samson, Shaodong Guo, Yuxiang Sun
Publikováno v:
Biomolecules, Vol 12, Iss 3, p 407 (2022)
Ghrelin receptor, a growth hormone secretagogue receptor (GHS-R), is expressed in the pancreas. Emerging evidence indicates that GHS-R is involved in the regulation of glucose-stimulated insulin secretion (GSIS), but the mechanism by which GHS-R regu
Externí odkaz:
https://doaj.org/article/33947880003c4b45927751cb57382d2f
Autor:
Hui Peng, Qianqian Wang, Tanqi Lou, Jun Qin, Sungyun Jung, Vivekananda Shetty, Feng Li, Yanlin Wang, Xin-hua Feng, William E. Mitch, Brett H. Graham, Zhaoyong Hu
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-15 (2017)
Progressive tubule cell damage results in defects in mitochondrial metabolism and exercise seems to be beneficial during chronic kidney disease. Here Peng et al. show that irisin, an exercise-induced myokine, improves kidney energy metabolism by inhi
Externí odkaz:
https://doaj.org/article/2e02db7b780c4d058faf0b3bda3f1292
Autor:
Elisabeth Bosch, Bernt Popp, Esther Güse, Cindy Skinner, Pleuntje J. van der Sluijs, Isabelle Maystadt, Anna Maria Pinto, Alessandra Renieri, Lucia Pia Bruno, Stefania Granata, Carlo Marcelis, Özlem Baysal, Dewi Hartwich, Laura Holthöfer, Bertrand Isidor, Benjamin Cogne, Dagmar Wieczorek, Valeria Capra, Marcello Scala, Patrizia De Marco, Marzia Ognibene, Rami Abou Jamra, Konrad Platzer, Lauren B. Carter, Outi Kuismin, Arie van Haeringen, Reza Maroofian, Irene Valenzuela, Ivon Cuscò, Julian A. Martinez-Agosto, Ahna M. Rabani, Heather C. Mefford, Elaine M. Pereira, Charlotte Close, Kwame Anyane-Yeboa, Mallory Wagner, Mark C. Hannibal, Pia Zacher, Isabelle Thiffault, Gea Beunders, Muhammad Umair, Priya T. Bhola, Erin McGinnis, John Millichap, Jiddeke M van de Kamp, Eloise J. Prijoles, Amy Dobson, Amelle Shillington, Brett H. Graham, Evan-Jacob Garcia, Maureen Kelly Galindo, Fabienne G. Ropers, Esther AR Nibbeling, Gail Hubbard, Catherine Karimov, Guido Goj, Renee Bend, Julie Rath, Michelle M Morrow, Francisca Millan, Vincenzo Salpietro, Annalaura Torella, Vincenzo Nigro, Mitja Kurki, Roger E Stevenson, Gijs W.E. Santen, Markus Zweier, Philippe M. Campeau, Mariasavina Severino, André Reis, Andrea Accogli, Georgia Vasileiou
PURPOSECoffin-Siris and Nicolaides-Baraitser syndromes, are recognisable neurodevelopmental disorders caused by germline variants in BAF complex subunits. TheSMARCC2BAFopathy was recently reported. Herein, we present clinical and molecular data on a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c27085d1605a13771b0976056173917e
https://doi.org/10.1101/2023.03.30.23287962
https://doi.org/10.1101/2023.03.30.23287962
Autor:
Jun Hyoung Park, Sajna Vithayathil, Santosh Kumar, Pi-Lin Sung, Lacey Elizabeth Dobrolecki, Vasanta Putluri, Vadiraja B. Bhat, Salil Kumar Bhowmik, Vineet Gupta, Kavisha Arora, Danli Wu, Efrosini Tsouko, Yiqun Zhang, Suman Maity, Taraka R. Donti, Brett H. Graham, Daniel E. Frigo, Cristian Coarfa, Patricia Yotnda, Nagireddy Putluri, Arun Sreekumar, Michael T. Lewis, Chad J. Creighton, Lee-Jun C. Wong, Benny Abraham Kaipparettu
Publikováno v:
Cell Reports, Vol 14, Iss 9, Pp 2154-2165 (2016)
Transmitochondrial cybrids and multiple OMICs approaches were used to understand mitochondrial reprogramming and mitochondria-regulated cancer pathways in triple-negative breast cancer (TNBC). Analysis of cybrids and established breast cancer (BC) ce
Externí odkaz:
https://doaj.org/article/28c753416ec244359418fa4cf4d08719
Publikováno v:
Cytogenetic and Genome Research. 162:40-45
The 16p11.2 duplication is a well-known cause of developmental delay and autism, but there are only 2 previously reported cases of 16p11.2 triplication. Both of the previously reported cases exhibited tandem triplication on a 16p11.2 duplication inhe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3cc19a543c89986b52b0dca54b66a400
https://doi.org/10.1159/000521297
https://doi.org/10.1159/000521297
Autor:
Manish Jaiswal, Nele A Haelterman, Hector Sandoval, Bo Xiong, Taraka Donti, Auinash Kalsotra, Shinya Yamamoto, Thomas A Cooper, Brett H Graham, Hugo J Bellen
Publikováno v:
PLoS Biology, Vol 16, Iss 3, p e1002622 (2018)
[This corrects the article DOI: 10.1371/journal.pbio.1002197.].
Externí odkaz:
https://doaj.org/article/e772bdd085444f588b496b59bce0221c
Autor:
Kuntal Sen, Lindsay C. Burrage, Kimberly A. Chapman, Ilona Ginevic, George V. Mazariegos, Brett H. Graham
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93bc2a204238a1f538db5a748602ce8e
https://pubmed.ncbi.nlm.nih.gov/36534118
https://pubmed.ncbi.nlm.nih.gov/36534118