Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Kevin McCall"'
Autor:
Naeimeh Tayebi, Brian Leon‐Ricardo, Kevin McCall, Elvisa Mehinovic, Kristin Engelstad, Vincent Huynh, Tychele N. Turner, Judy Weisenberg, Liu L. Thio, Paul Hruz, Robin S. B. Williams, Darryl C. De Vivo, Vincent Petit, Gabe Haller, Christina A. Gurnett
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 10, Iss 5, Pp 787-801 (2023)
Abstract Objective The goal of this study is to demonstrate the utility of a growth assay to quantify the functional impact of single nucleotide variants (SNVs) in SLC2A1, the gene responsible for Glut1DS. Methods The functional impact of 40 SNVs in
Externí odkaz:
https://doaj.org/article/8965eaa1967a46efa6f51cdbea956310
Autor:
Gabe Haller, Kevin McCall, Supak Jenkitkasemwong, Brooke Sadler, Lilian Antunes, Momchil Nikolov, Julia Whittle, Zachary Upshaw, Jimann Shin, Erin Baschal, Carlos Cruchaga, Matthew Harms, Cathleen Raggio, Jose A. Morcuende, Philip Giampietro, Nancy H. Miller, Carol Wise, Ryan S. Gray, Lila Solnica-Krezel, Mitchell Knutson, Matthew B. Dobbs, Christina A. Gurnett
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
The majority of scoliosis is considered idiopathic with onset in adolescence (AIS) and has a genetic contribution. Here, the authors perform an exome wide association study of data from 457 severe AIS cases and 987 controls, and find a missense varia
Externí odkaz:
https://doaj.org/article/04b3d3a563384542b1a9a97bf011c0d4
Autor:
Neal Bushaw, Blake Conka, Vinay Gupta, Aidan Kierans, Hudson Lafayette, Craig Larson, Kevin McCall, Andriy Mulyar, Christine Sullivan, Scott Taylor, Evan Wainright, Evan Wilson, Guanyu Wu, Sarah Loeb
Publikováno v:
Ars Mathematica Contemporanea. 23:#P3.06
Autor:
Karen Soldano, Timothy Kuensting, David D. Limbrick, Brooke Sadler, Melanie E. Garrett, Alfons Macaya, Gabe Haller, Andrew T. Hale, Marco Tartaglia, Jackson Wilborn, Stephen R Gannon, Aintzane Urbizu, Giuseppe Zampino, Donald F. Conrad, Norine Voisin, Tychele N. Turner, Gerarda Cappuccio, Nicola Brunetti-Pierri, Kevin McCall, Douglas L. Brockmeyer, Alexandre Reymond, Matthew B. Harms, Lilian Antunes, Matthew B. Dobbs, Jennifer Strahle, Chevis N. Shannon, Allison E. Ashley-Koch, Carlos Cruchaga, Chiara Leoni, Marcello Niceta, Christina A. Gurnett
Publikováno v:
Am J Hum Genet
Summary Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, includ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95ac6d2e60064bcaddc86c2e83424d58
https://europepmc.org/articles/PMC7820723/
https://europepmc.org/articles/PMC7820723/
Autor:
Lilian Antunes, Jimann Shin, Brooke Sadler, Gabe Haller, Supak Jenkitkasemwong, Mitchell D. Knutson, Zachary Upshaw, Kevin McCall, Erin E. Baschal, Matthew B. Dobbs, Christina A. Gurnett, Cathleen L. Raggio, Ryan S. Gray, Matthew B. Harms, Nancy H. Miller, Philip F. Giampietro, Jose A. Morcuende, Carol Wise, Momchil Nikolov, Lila Solnica-Krezel, Carlos Cruchaga, Julia Whittle
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-7 (2018)
Nature Communications
Nature Communications
Genetic factors predictive of severe adolescent idiopathic scoliosis (AIS) are largely unknown. To identify genetic variation associated with severe AIS, we performed an exome-wide association study of 457 severe AIS cases and 987 controls. We find a
Publikováno v:
Journal of Medical Genetics. 53:250-255
Background Deletions of the HOXC gene cluster result in variable phenotypes in mice, but have been rarely described in humans. Objective To report chromosome 12q13.13 microdeletions ranging from 13 to 175 kb and involving the 5′ HOXC genes in four
Autor:
Kyungsoo Ha, David M. Alvarado, Kevin McCall, Pradeep K. Luther, Matthew I. Goldsmith, Jillian G. Buchan, Anupama Vydyanath, Christina A. Gurnett, Matthew B. Dobbs
Publikováno v:
Human Molecular Genetics; Vol 22
Myosin-binding protein C1 (MYBPC1) is an abundant skeletal muscle protein that is expressed predominantly in slow-twitch muscle fibers. Human MYBPC1 mutations are associated with distal arthrogryposis type 1 and lethal congenital contracture syndrome
Autor:
Robert Reid, Daniel Kull, Kevin McCall, Alanna Leigh Simpson, Sofia Bettencourt, Habiba Gitay
Publikováno v:
Climate Change Adaptation Strategies – An Upstream-downstream Perspective ISBN: 9783319407715
Concurrently addressing disaster risk and the effects of climate change delivers both immediate and longer term development gains, while also reducing fragmentation of the limited human and financial capacity found in many developing countries. Over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e9bb7e4491050e3791226b457077a76d
https://doi.org/10.1007/978-3-319-40773-9_14
https://doi.org/10.1007/978-3-319-40773-9_14
Publikováno v:
Human Genomics
Human Genomics, Vol 3, Iss 4, Pp 304-307 (2009)
Human Genomics, Vol 3, Iss 4, Pp 304-307 (2009)
This paper reports the identification of a novel cytosolic aldehyde dehydrogenase 1 (ALDHIAI) allele. One hundred and sixty-two Indo-Trinidadian and 85 Afro-Trinidadian individuals were genotyped. A novel ALDHIAI allele, ALDHIAI*4, was identified in
Autor:
Robi D. Mitra, Gabe Haller, Kevin McCall, Matthew B. Dobbs, Christina A. Gurnett, David M. Alvarado
Publikováno v:
Nature Methods. 13:923-924
Large-scale mutagenesis of target DNA sequences allows researchers to comprehensively assess the effects of single-nucleotide changes. Here we demonstrate the construction of a systematic allelic series (SAS) using massively parallel single-nucleotid