Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Olivia Wenger"'
Autor:
Sarah Ehrenberg, Catherine Walsh Vockley, Paige Heiman, Zineb Ammous, Olivia Wenger, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100936- (2022)
Propionic acidemia (PA) in the Amish is caused by a homozygous pathogenic variant (c.1606A>G; p.Asn536Asp) in the PCCB gene. Amish patients can have borderline or normal newborn screening (NBS) results and symptoms can present at any time from early
Externí odkaz:
https://doaj.org/article/46a41536862d448d9beb397b376e26f7
Autor:
Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self
Publikováno v:
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-11 (2022)
Abstract Oculocutaneous albinism type 1 (OCA1) is caused by pathogenic variants in the TYR (tyrosinase) gene which encodes the critical and rate-limiting enzyme in melanin synthesis. It is the most common OCA subtype found in Caucasians, accounting f
Externí odkaz:
https://doaj.org/article/8ddc9109fec74dd780fb8658772b15c8
Autor:
Zineb Ammous, Lettie E Rawlins, Hannah Jones, Joseph S Leslie, Olivia Wenger, Ethan Scott, Jim Deline, Tom Herr, Rebecca Evans, Angela Scheid, Joanna Kennedy, Barry A Chioza, Ryan M Ames, Harold E Cross, Erik G Puffenberger, Lorna Harries, Emma L Baple, Andrew H Crosby
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findi
Externí odkaz:
https://doaj.org/article/2f9a3a5365ad4563a237423cdb93c9ca
Autor:
Maria O. Levitin, Lettie E Rawlins, Gabriela Sanchez-Andrade, Osama A. Arshad, Stephan C. Collins, Stephen J. Sawiak, Phillip H. Iffland, Malin H.L. Andersson, Caleb Bupp, Emma L. Cambridge, Eve L. Coomber, Ian Ellis, Johanna C. Herkert, Holly Ironfield, Logan Jory, Perrine F. Kretz, Sarina G. Kant, Alexandra Neaverson, Esther Nibbeling, Christine Rowley, Emily Relton, Mark Sanderson, Ethan M. Scott, Helen Stewart, Andrew Y. Shuen, John Schreiber, Liz Tuck, James Tonks, Thorkild Terkelsen, Conny van Ravenswaaij-Arts, Pradeep Vasudevan, Olivia Wenger, Michael Wright, Andrew Day, Adam Hunter, Minal Patel, Christopher J. Lelliott, Peter B. Crino, Binnaz Yalcin, Andrew Crosby, Emma L. Baple, Darren W. Logan, Matthew E. Hurles, Sebastian S. Gerety
KPTN-related disorder (KRD) is an autosomal recessive disorder associated with germline variants in KPTN (kaptin), a component of the mTOR regulatory complex KICSTOR. To gain further insights into the pathogenesis of KRD, we analysed mouse knockout a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c4cbb0278fd0279fd1689af80476ba3a
https://doi.org/10.1101/2022.07.15.500213
https://doi.org/10.1101/2022.07.15.500213
Autor:
Susan Ferry, Oleg A Shchelochkov, Olivia Wenger, Paul Juneau, Samantha McCoy, Jeffrey B. Kopp, Mark D. Levin, Charles P. Venditti, Alexandra Pass, Irini Manoli, Laryssa A. Huryn, Megan Schoenfeld, Joseph Snow, Audrey Thurm, Colby Chlebowski, Wadih M. Zein, Kong Y. Chen, Jennifer L. Sloan, Jennifer Myles, Carol Van Ryzin
Publikováno v:
Genetics in Medicine
To conduct a proof-of-principle study to identify subtypes of propionic acidemia (PA) and associated biomarkers. Data from a clinically diverse PA patient population ( https://clinicaltrials.gov/ct2/show/NCT02890342 ) were used to train and test mach
Autor:
Olivia Wenger, Jennifer Hershberger, Rachel E. Stein, Miraides Brown, Elizabeth M. Scott, Ethan M. Scott
Publikováno v:
Vaccine
Objectives The Holmes County Amish have low vaccination rates, an increasingly diverse population, and have an increased incidence of certain inherited diseases. The objectives were to evaluate; the rate and influences of vaccine hesitancy compared t
Autor:
Olivia Wenger, Matteo P. Ferla, Ilka Warshawsky, Martin Munteanu, Cas Simons, Matthew Wakeling, Claire G. Salter, Joshua A. Lees, Bernice Lo, Pietro De Camilli, Emma L. Baple, Sara Van Meerbeke, G. Christoph Korenke, Frederico Zara, Barry A. Chioza, Catherine Ward Melver, Manish J. Butte, M. Traverso, Henry Taylor, Marjo S. van der Knaap, Andrew H. Crosby, Matthew Keisling, Joseph S Leslie, Christin Deal, James Fasham, Helen Cox, Ethan M. Scott, Guy Helman, Amber J. McCartney, Yiying Cai, Mamoun Elawad, Tamas Marton, Nicole I. Wolf, Dirk Holzinger, Harold E. Cross, Holm H. Uhlig, Deyana Valcheva, Tamas Balla, Urania Kotzaeridou, Joanna Crawford, Andrea Accogoli, Utkucan Acar, Stephan Tippelt, Dimitris P. Agamanolis, Catherine Walsh Vockley
Publikováno v:
Salter, C G, Cai, Y, Lo, B, Helman, G, Taylor, H, McCartney, A, Leslie, J S, Accogli, A, Zara, F, Traverso, M, Fasham, J, Lees, J A, Ferla, M P, Chioza, B A, Wenger, O, Scott, E, Cross, H E, Crawford, J, Warshawsky, I, Keisling, M, Agamanolis, D, Ward Melver, C, Cox, H, Elawad, M, Marton, T, Wakeling, M N, Holzinger, D, Tippelt, S, Munteanu, M, Valcheva, D, Deal, C, van Meerbeke, S, Walsh Vockley, C, Butte, M J, Acar, U, van der Knaap, M S, Korenke, G C, Kotzaeridou, U, Balla, T, Simons, C, Uhlig, H H, Crosby, A H, de Camilli, P, Wolf, N I & Baple, E L 2021, ' Biallelic PI4KA variants cause neurological, intestinal and immunological disease ', Brain, vol. 144, no. 12, pp. 3597-3610 . https://doi.org/10.1093/brain/awab313
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Press
Brain
Brain: a journal of neurology, vol 144, iss 12
Brain, 144(12), 3597-3610. Oxford University Press
Phosphatidylinositol 4-kinase IIIα (PI4KIIIα/PI4KA/OMIM:600286) is a lipid kinase generating phosphatidylinositol 4-phosphate (PI4P), a membrane phospholipid with critical roles in the physiology of multiple cell types. PI4KIIIα’s role in PI4P g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e4d2ffb57a785b47391a6347add81c
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8
https://research.vumc.nl/en/publications/e126a072-33f6-48db-9efb-ecd71589d3d8
Autor:
Joseph S. Leslie, Rim Hjeij, Asaf Vivante, Elizabeth A. Bearce, Laura Dyer, Jiaolong Wang, Lettie Rawlins, Joanna Kennedy, Nishanka Ubeyratna, James Fasham, Zoe H. Irons, Samuel B. Craig, Julia Koenig, Sebastian George, Ben Pode-Shakked, Yoav Bolkier, Ortal Barel, Shrikant Mane, Kathrine K. Frederiksen, Olivia Wenger, Ethan Scott, Harold E. Cross, Esben Lorentzen, Dominic P. Norris, Yair Anikster, Heymut Omran, Daniel T. Grimes, Andrew H. Crosby, Emma L. Baple
Publikováno v:
Leslie, J S, Hjeij, R, Vivante, A, Bearce, E A, Dyer, L, Wang, J, Rawlins, L, Kennedy, J, Ubeyratna, N, Fasham, J, Irons, Z H, Craig, S B, Koenig, J, George, S, Pode-Shakked, B, Bolkier, Y, Barel, O, Mane, S, Frederiksen, K K, Wenger, O, Scott, E, Cross, H E, Lorentzen, E, Norris, D P, Anikster, Y, Omran, H, Grimes, D T, Crosby, A H & Baple, E L 2022, ' Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities ', Genetics in Medicine, vol. 24, no. 11, pp. 2249-2261 . https://doi.org/10.1016/j.gim.2022.07.019
Purpose: The clinical spectrum of motile ciliopathies includes laterality defects, hydrocephalus, and infertility as well as primary ciliary dyskinesia when impaired mucociliary clearance results in otosinopulmonary disease. Importantly, approximatel
Autor:
Hannah Jones, Tom Herr, Lorna W. Harries, Erik G. Puffenberger, Rebecca Evans, Harold E. Cross, Olivia Wenger, Angela Scheid, Ethan M. Scott, Jim Deline, Joanna Kennedy, Emma L. Baple, Lettie E. Rawlins, Zineb Ammous, Ryan M. Ames, Joseph S Leslie, Andrew H. Crosby, Barry A. Chioza
Publikováno v:
PLoS Genetics, Vol 17, Iss 9, p e1009803 (2021)
PLoS Genetics
PLoS Genetics
SNIP1 (Smad nuclear interacting protein 1) is a widely expressed transcriptional suppressor of the TGF-β signal-transduction pathway which plays a key role in human spliceosome function. Here, we describe extensive genetic studies and clinical findi
Autor:
Anthony G. Robson, Claire G. Salter, James Fasham, Gaurav V. Harlalka, Olivia Wenger, Amelia Lane, F. Lucy Raymond, Sarah Hull, Rui Chen, Emma L. Baple, Lynn Schema, Gavin Arno, Mingchu Xu, Anthony T. Moore, Andrew R. Webster, Siying Lin, Michael E. Cheetham, Timothy J. Moss, Keren J. Carss, Jay E. Self, Andrew H. Crosby
Publikováno v:
American Journal of Medical Genetics. Part a
Author(s): Fasham, James; Arno, Gavin; Lin, Siying; Xu, Mingchu; Carss, Keren J; Hull, Sarah; Lane, Amelia; Robson, Anthony G; Wenger, Olivia; Self, Jay E; Harlalka, Gaurav V; Salter, Claire G; Schema, Lynn; Moss, Timothy J; Cheetham, Michael E; Moor