Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Eric C. Swindell"'
Autor:
Ariadne Letra, Jacqueline T. Hecht, Matthew R. Greives, Ryan A. Boyer, John F. Teichgraeber, Jeffrey Dyke, John B. Mulliken, Qiuping Yuan, Eric C. Swindell, Susan H. Blanton, Lorena Maili, Robert Plant, Brett T. Chiquet
Publikováno v:
European Journal of Human Genetics. 26:1441-1450
Orofacial development is a multifaceted process involving tightly regulated genetic signaling networks, that when perturbed, lead to orofacial abnormalities including cleft lip and/or cleft palate. We and others have shown an association between the
Autor:
Limin Gong, Siddharth K. Prakash, Lawrence Yang Zhu, Regie Lyn P. Santos-Cortez, Shao Qing Kuang, Corey L. Reynolds, Ellen S. Regalado, Eric C. Swindell, Xue Yan Duan, Suzanne M. Leal, Deborah A. Nickerson, Jay Shendure, Guillaume Jondeau, Michael J. Bamshad, Catherine Boileau, Callie S. Kwartler, Milan Jamrich, Andrew M. Peters, Mark W. Majesky, Olga Medina-Martinez, Dianna M. Milewicz, Dongchuan Guo, Xiu-Rong Dong
Publikováno v:
Journal of Clinical Investigation. 126:948-961
The ascending thoracic aorta is designed to withstand biomechanical forces from pulsatile blood. Thoracic aortic aneurysms and acute aortic dissections (TAADs) occur as a result of genetically triggered defects in aortic structure and a dysfunctional
Autor:
Jacqueline T. Hecht, Eric C. Swindell, Lorena Maili, Daniel S. Wagner, Bhavna Tandon, Qiuping Yuan
Publikováno v:
genesis. 53:660-667
The CAP superfamily member, CRISPLD2, has previously been shown to be associated with nonsyndromic cleft lip and palate (NSCLP) in human populations and to be essential for normal craniofacial development in the zebrafish. Additionally, in rodent mod
Autor:
Nevena Cvjetkovic, Jacqueline T. Hecht, Lorena Maili, S. Shahrukh Hashmi, Qiuping Yuan, Katelyn S. Weymouth, Susan H. Blanton, Eric C. Swindell, Jacek Topczewski, John B. Mulliken, Ariadne Letra
Publikováno v:
Molecular Genetics & Genomic Medicine
Nonsyndromic cleft lip with or without cleft palate (NSCLP) is a common birth defect affecting 135,000 newborns worldwide each year. While a multifactorial etiology has been suggested as the cause, despite decades of research, the genetic underpinnin
Autor:
Ralph J. Johnson, Guillaume Jondeau, Dongchuan Guo, Ren Zhao, Marcia C. Willing, Limin Gong, Bo Cai, Michael J. Bamshad, C. S. Raman, Rocio Moran, Catherine Boileau, Dianna M. Milewicz, Siddharth K. Prakash, Sudha Veeraraghavan, Ellen S. Regalado, Ann Muilenburg, Eric C. Swindell, Suzanne M. Leal, Deborah A. Nickerson, Julie Debacker, Jay Shendure, Hariyadarshi Pannu, Regie Lyn P. Santos-Cortez
Publikováno v:
The American Journal of Human Genetics. 96(1):170-177
Up to 20% of individuals who have thoracic aortic aneurysms or acute aortic dissections but who do not have syndromic features have a family history of thoracic aortic disease. Significant genetic heterogeneity is established for this familial condit
Autor:
Eric C. Swindell, Renato Menezes Silva, Jacqueline T. Hecht, Anqi Zhang, Ariadne Letra, Xiaoming Liu, Lorena Maili, Qiuping Yuan, Min Zhao, Tam Tran, Bhavna Tandon, Evan H. Baugh, Daniel S. Wagner
Publikováno v:
Molecular Genetics & Genomic Medicine
Background Oligodontia is a severe form of tooth agenesis characterized by the absence of six or more permanent teeth. Oligodontia has complex etiology and variations in numerous genes have been suggested as causal for the condition. Methods We appli
Autor:
Eric C. Swindell, Ming Ming Jiang, Annick Raas-Rothschild, Nurit Magal, Adetutu T. Egunsola, Richard A. Gibbs, Shan Chen, Lisette Nevarez, Brendan Lee, Daniel H. Cohn, Terry Bertin, Philippe M. Campeau, James T. Lu, Mordechai Shohat, Yangjin Bae, Yuqing Chen-Evenson, David S. Liu
Shohat-type spondyloepimetaphyseal dysplasia (SEMD) is a skeletal dysplasia that affects cartilage development. Similar skeletal disorders, such as spondyloepiphyseal dysplasias, are linked to mutations in type II collagen (COL2A1), but the causative
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ea163e75e2a487dd361ae6be3c03c75b
https://europepmc.org/articles/PMC5373861/
https://europepmc.org/articles/PMC5373861/
Autor:
Eric C. Swindell, Caroline Pinto, Anne Riu, Abdel Bouhlatouf, Philip Jonsson, Catherine W. McCollum, Sharanya Maanasi Kalasekar, Patrick Balaguer, Maria Bondesson, Jan-Åke Gustafsson, Justin Lopez
Publikováno v:
Molecular and Cellular Endocrinology
Molecular and Cellular Endocrinology, Elsevier, 2016, 419, pp.29-43. ⟨10.1016/j.mce.2015.09.030⟩
Molecular and Cellular Endocrinology, Elsevier, 2016, 419, pp.29-43. ⟨10.1016/j.mce.2015.09.030⟩
International audience; The Liver X Receptors (LXRs) play important roles in multiple metabolic pathways, including fatty acid, cholesterol, carbohydrate and energy metabolism. To expand the knowledge of the functions of LXR signaling during embryoni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff905a0e16b6135a7f69e7791d04d2e8
https://hal.umontpellier.fr/hal-02317962
https://hal.umontpellier.fr/hal-02317962
Autor:
Eric C. Swindell, Hong Ping Xu, Milan Jamrich, Michael C. Crair, Shigeyoshi Itohara, Onkar S. Dhande, Shivani Bhatt, Anastacia Anishchenko, Marla B. Feller, Justin Elstrott, Takuji Iwasato
Publikováno v:
The Journal of Comparative Neurology. 520:1562-1583
The development of topographic maps of the sensory periphery is sensitive to the disruption of adenylate cyclase 1 (AC1) signaling. AC1 catalyzes the production of cAMP in a Ca2+/calmodulin-dependent manner, and AC1 mutant mice (AC1−/−) have diso
Autor:
B. Park, M. W. Seeliger, Celso H. Alves, Naoyuki Tanimoto, Jan Klooster, Till F. M. Andlauer, A. le Bivic, Eric C. Swindell, Susanne C. Beck, Fabrice Richard, Gesine Huber, Milan Jamrich, Ditte M. S. Lundvig, Jan Wijnholds
Publikováno v:
Journal of Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2011, 31 (47), pp.17230-41. ⟨10.1523/JNEUROSCI.4430-11.2011⟩
Journal of Neuroscience; Vol 31
Journal of Neuroscience, 2011, 31 (47), pp.17230-41. ⟨10.1523/JNEUROSCI.4430-11.2011⟩
The Journal of Neuroscience, 31, 17230-17241
The Journal of Neuroscience, 31, pp. 17230-17241
Journal of Neuroscience, 31, 17230-17241. Society for Neuroscience
Journal of Neuroscience, Society for Neuroscience, 2011, 31 (47), pp.17230-41. ⟨10.1523/JNEUROSCI.4430-11.2011⟩
Journal of Neuroscience; Vol 31
Journal of Neuroscience, 2011, 31 (47), pp.17230-41. ⟨10.1523/JNEUROSCI.4430-11.2011⟩
The Journal of Neuroscience, 31, 17230-17241
The Journal of Neuroscience, 31, pp. 17230-17241
Journal of Neuroscience, 31, 17230-17241. Society for Neuroscience
The membrane-associated palmitoylated protein 5 (MPP5 or PALS1) is thought to organize intracellular PALS1-CRB-MUPP1 protein scaffolds in the retina that are involved in maintenance of photoreceptor–Müller glia cell adhesion. In humans, the Crumbs