Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Brian Kirmse"'
Autor:
Jorune Balciuniene, Ruby Liu, Lora Bean, Babi Ramesh Reddy Nallamilli, Naga Guruju, Xiangwen Chen-Deutsch, Rizwan Yousaf, Kristina Fura, Eprem Chin, Abhinav Mathur, Zeqiang Ma, Jonathan Carmichael, Christin Collins, Cristina da Silva, Brian Kirmse, Steven Bleyl, Madhuri Hegde
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 101618- (2024)
Externí odkaz:
https://doaj.org/article/84b8713922944e74ae4f889c8f3d697e
Autor:
Rauan Kaiyrzhanov, Maha S. Zaki, Tracy Lau, Sambuddha Sen, Reza Azizimalamiri, Mina Zamani, Gözde Yeşil Sayin, Taru Hilander, Stephanie Efthymiou, Viorica Chelban, Ruth Brown, Kyle Thompson, Maria Irene Scarano, Jaya Ganesh, Kairgali Koneev, Ismail Musab Gülaçar, Richard Person, Dinara Sadykova, Yerdan Maidyrov, Tahereh Seifi, Aizhan Zadagali, Geneviève Bernard, Katrina Allis, Houda Zghal Elloumi, Amanda Lindy, Ehsan Taghiabadi, Sumit Verma, Rachel Logan, Brian Kirmse, Renkui Bai, Shaimaa M. Khalaf, Mohamed S. Abdel‐Hamid, Alireza Sedaghat, Gholamreza Shariati, Mahmoud Issa, Jawaher Zeighami, Hasnaa M. Elbendary, Garry Brown, Robert W. Taylor, Hamid Galehdari, Joseph J. Gleeson, Christopher J. Carroll, James A. Cowan, Andres Moreno‐De‐Luca, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 12, Pp 2025-2035 (2022)
Abstract Bi‐allelic variants in Iron–Sulfur Cluster Scaffold (NFU1) have previously been associated with multiple mitochondrial dysfunctions syndrome 1 (MMDS1) characterized by early‐onset rapidly fatal leukoencephalopathy. We report 19 affecte
Externí odkaz:
https://doaj.org/article/711cfaa4bbdd40c88cf90df5e876adc6
Autor:
Richard S. Bradbury, Meredith Lane, Irene Arguello, Sukwan Handali, Gretchen Cooley, Nils Pilotte, John M. Williams, Sam Jameson, Susan P. Montgomery, Kathryn Hellmann, Michelle Tharp, Lisa Haynie, Regina Galloway, Bruce Brackin, Brian Kirmse, Lisa Stempak, Paul Byers, Steven Williams, Fazlay Faruque, Charlotte V. Hobbs
Publikováno v:
Emerging Infectious Diseases, Vol 27, Iss 8, Pp 2201-2204 (2021)
Surveillance for soil-transmitted helminths, strongyloidiasis, cryptosporidiosis, and giardiasis was conducted in Mississippi, USA. PCR performed on 224 fecal samples for all soil-transmitted helminths and on 370 samples for only Necator americanus a
Externí odkaz:
https://doaj.org/article/782b055a490c43cfa66f1a27c5e153b5
Autor:
Sukhleen Kour, Deepa S. Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sangmoon Lee, Yong Beom Shin, Jong-Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah S. Barnett, Margot A. Cousin, Diana Castro, Kimberly McDonald, Brian Kirmse, Andrea H. Nemeth, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, Isabelle Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja K. Selmer, Roser Urreizti, Alberto Garcia-Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah R. McCurry, John E. Landers, Sameer Agnihotri, E. Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, Maria J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik-Schöneborn, Tim M. Strom, Steffen Leiz, Kali Juliette, Randal Richardson, Ying Yang, Yuehua Zhang, Minghui Wang, Jia Wang, Xiaodong Wang, Konrad Platzer, Sandra Donkervoort, Carsten G. Bönnemann, Matias Wagner, Mahmoud Y. Issa, Hasnaa M. Elbendary, Valentina Stanley, Reza Maroofian, Joseph G. Gleeson, Maha S. Zaki, Jan Senderek, Udai Bhan Pandey
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
GEMIN5, an RNA-binding protein, is required for formation of small nuclear ribonucleoproteins. Here, the authors identify loss of function mutations in GEMIN5 that are associated with a human neurodevelopmental disorder.
Externí odkaz:
https://doaj.org/article/89c11aed01764fe28b3d252a2c5bccf7
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 30, Iss , Pp 100844- (2022)
Individuals with LPIN1 deficiency have early recurrent, life-threatening rhabdomyolysis but the full phenotypic spectrum and optimal treatment of the disorder remains unknown. Here we report the clinical details and treatment outcomes of 6 patients f
Externí odkaz:
https://doaj.org/article/b753f2ea078b422f952285e592c84874
Autor:
Deepa S. Rajan, Sukhleen Kour, Tyler R. Fortuna, Margot A. Cousin, Sarah S. Barnett, Zhiyv Niu, Dusica Babovic-Vuksanovic, Eric W. Klee, Brian Kirmse, Micheil Innes, Siri Lynne Rydning, Kaja K. Selmer, Magnus Dehli Vigeland, Anne Kjersti Erichsen, Andrea H. Nemeth, Francisca Millan, Catherine DeVile, Katherine Fawcett, Adrien Legendre, David Sims, Ricardo Parolin Schnekenberg, Lydie Burglen, Sandra Mercier, Somayeh Bakhtiari, Rosario Francisco-Velilla, Azman Embarc-Buh, Encarnacion Martinez-Salas, Kristen Wigby, Jerica Lenberg, Jennifer R. Friedman, Michael C. Kruer, Udai Bhan Pandey
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 10 (2022)
The hereditary ataxias are a heterogenous group of disorders with an increasing number of causative genes being described. Due to the clinical and genetic heterogeneity seen in these conditions, the majority of such individuals endure a diagnostic od
Externí odkaz:
https://doaj.org/article/5d4040678c7b47c1897c45d67b96d069
Autor:
Greg S. Gojanovich, Denise L. Jacobson, Carly Broadwell, Brad Karalius, Brian Kirmse, Mitchell E. Geffner, Jennifer Jao, Russell B. Van Dyke, Elizabeth J. McFarland, Margarita Silio, Marilyn Crain, Mariana Gerschenson, for the Pediatric HIV/AIDS Cohort Study
Publikováno v:
PLoS ONE, Vol 16, Iss 12 (2021)
Background In persons living with HIV, mitochondrial disease (MD) is difficult to diagnose, as clinical signs are non-specific with inconsistent patterns. Fibroblast growth factor 21 (FGF21) and growth differentiation factor 15 (GDF15) are mitokines
Externí odkaz:
https://doaj.org/article/84c5a070b98d4f768e45b5fa8c04122e
Autor:
Brian, Kirmse, Charlotte, Hobbs, Lisa, Aaron, Grace, Montepiedra, Marshall, Summar, Paige L, Williams, Caitlin J, Smith, Russell, Van Dyke, Chunli, Yu, Kelli K, Ryckman, William, Borkowsky, Anai, Cuadra
Publikováno v:
The Pediatric infectious disease journal. 41(8)
Mitochondrial toxicity resulting in myopathy and lactic acidosis has been described in antiretroviral (ARV)-exposed patients. We hypothesized that myopathy in HIV-infected, ARV-treated children would be associated with metabolic (acylcarnitines) and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9f8eb9e8790ad6104ecd890b1a277e7
https://pubmed.ncbi.nlm.nih.gov/35622436
https://pubmed.ncbi.nlm.nih.gov/35622436
Autor:
Brian Kirmse, Juan Cabrerra-Luque, Omar Ayyub, Kristina Cusmano, Kimberly Chapman, Marshall Summar
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 13, Iss C, Pp 52-54 (2017)
Fibroblast growth factor-21 (FGF21) levels are elevated in patients with primary mitochondrial disorders but have not been studied in patients with inborn errors of metabolism (IEM) known to have secondary mitochondrial dysfunction. We measured plasm
Externí odkaz:
https://doaj.org/article/9d209d9c70ae4a5189cf1377e3b36273
Autor:
Timothy Visclosky, Huda B. Al-Kouatly, Mona Makhamreh, Kengo Inagaki, Natella Rakhmanina, Rachel K. Scott, Gary Cunningham, Brian Ingram, Brian Kirmse
Publikováno v:
AIDS Res Hum Retroviruses
It is unknown whether antiretroviral (ARV) drugs in women living with HIV (WLHIV) are associated with mitochondrial toxicity and altered fat oxidation and branched-chain amino acid metabolism in the placenta and fetus. Immediately after delivery, we
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b36be40f48cdd4799b872fba30046716
https://doi.org/10.1089/aid.2021.0056
https://doi.org/10.1089/aid.2021.0056