Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Charul Gijavanekar"'
Autor:
Ameya S. Walimbe, Keren Machol, Stephen F. Kralik, Elizabeth A. Mizerik, Yoel Gofin, Mir Reza Bekheirnia, Charul Gijavanekar, Sarah H. Elsea, Lisa T. Emrick, Fernando Scaglia
Publikováno v:
BMC Neurology, Vol 24, Iss 1, Pp 1-8 (2024)
Abstract Background RARS2-related mitochondrial disorder is an autosomal recessive mitochondrial encephalopathy caused by biallelic pathogenic variants in the gene encoding the mitochondrial arginyl-transfer RNA synthetase 2 (RARS2, MIM *611524, NM_0
Externí odkaz:
https://doaj.org/article/c1565656a57247c794a00bb588623cd0
Autor:
Kevin E. Glinton, Charul Gijavanekar, Abbhirami Rajagopal, Laura P. Mackay, Kirt A. Martin, Phillip L. Pearl, K. Michael Gibson, Theresa A. Wilson, V. Reid Sutton, Sarah H. Elsea
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Genomic sequencing offers an untargeted, data-driven approach to genetic diagnosis; however, variants of uncertain significance often hinder the diagnostic process. The discovery of rare genomic variants without previously known functional evidence o
Externí odkaz:
https://doaj.org/article/29eec710b9ad4cdf9ea448935aba96f4
Autor:
Ameya Walimbe, Emily Waskow, Laura Mackay, Charul Gijavanekar, Marcus Miller, Sarah Elsea, Fernando Scaglia
Publikováno v:
Genetics in Medicine Open, Vol 2, Iss , Pp 100893- (2024)
Externí odkaz:
https://doaj.org/article/606f43b9c31a4fb29ebf91a77a21eeb4
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100025- (2023)
Externí odkaz:
https://doaj.org/article/e3fe213b9f7642a0a3ee6749c46fe394
Autor:
Laura Mackay, Charul Gijavanekar, Haley Streff, Jack F. Price, Sarah H. Elsea, Fernando Scaglia
Publikováno v:
American Journal of Medical Genetics Part A. 191:1366-1372
Autor:
Charul Gijavanekar, Sarah H. Elsea
Publikováno v:
Current Protocols. 3
Autor:
E El-Anany, Jennifer E. Posey, Shalini N. Jhangiani, S Guliyeva, Jill A. Rosenfeld, Khalid A. Fakhro, Vasiliki Karageorgou, A A Subhi, R. A. Gibbs, A Al-Maraghi, Sarah H. Elsea, Amal Alhashem, Henry Houlden, Charul Gijavanekar, M S Breilyn, Dana Marafi, Joseph G. Gleeson, Christian Beetz, E Sites, Hessa S. Alsaif, Vernon R. Sutton, Jill V. Hunter, Fowzan S. Alkuraya, M Zakkariah, C Gaba, James R. Lupski, Erin Torti, Davut Pehlivan, Z. Coban Akdemir, Matteo P. Ferla, S Duberstein, Haowei Du, Mohamed S. Abdel-Hamid, Ulviyya Guliyeva, M Sebastin, Jenny C. Taylor, E Danish, Reza Maroofian, A Haseeb, Rauan Kaiyrzhanov, Maha S. Zaki, Mohammed Al-Owain, S V Mullegama, Ning Liu, Jawid M Fatih, Tadahiro Mitani
Publikováno v:
Brain
The solute carrier (SLC) superfamily encompasses >400 transmembrane transporters involved in the exchange of amino acids, nutrients, ions, metals, neurotransmitters and metabolites across biological membranes. SLCs are highly expressed in the mammali
Autor:
Sarah H. Elsea, Amber Meshell Mayfield Yates, Charul Gijavanekar, Yuezhen Lin, Fernando Scaglia, Hitha Amin, Lorraine Potocki, Stephen F. Kralik, Javier Chinen, John D Odom, Elizabeth Mizerik
Publikováno v:
American Journal of Medical Genetics Part A. 188:259-268
Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD; MIM #616084) is an autosomal recessive disorder of mitochondrial and cytosolic tRNA processing caused by pathogenic, biallelic variants in TRNT1. Other features of thi
Autor:
Joshua Manor, Daniel Calame, Charul Gijavanekar, Kristen Fisher, Jill Hunter, Elizabeth Mizerik, Carlos Bacino, Fernando Scaglia, Sarah H. Elsea
Publikováno v:
Mol Genet Metab
The NAD(P)HX repair system is a metabolite damage repair mechanism responsible for restoration of NADH and NADPH after their inactivation by hydration. Deficiency in either of its two enzymes, NAD(P)HX dehydratase (NAXD) or NAD(P)HX epimerase (NAXE),
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da1a9438dde05cad193e1051f65bb4db
https://europepmc.org/articles/PMC9893913/
https://europepmc.org/articles/PMC9893913/
Autor:
Charul Gijavanekar, Kevin E. Glinton, Kirt A. Martin, Theresa A. Wilson, Vernon R. Sutton, Sarah H. Elsea
Publikováno v:
Molecular Genetics and Metabolism. 138:107415