Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Yanzhen Pan"'
Autor:
Yong-Hui Jiang, Yanzhen Pan, Li Zhu, Luis Landa, Jong Yoo, Corinne Spencer, Isabel Lorenzo, Murray Brilliant, Jeffrey Noebels, Arthur L Beaudet
Publikováno v:
PLoS ONE, Vol 5, Iss 8, p e12278 (2010)
Angelman syndrome (AS) is a neurobehavioral disorder associated with mental retardation, absence of language development, characteristic electroencephalography (EEG) abnormalities and epilepsy, happy disposition, movement or balance disorders, and au
Externí odkaz:
https://doaj.org/article/cf9e44e7a9b84b429dc98bd102bb00eb
Autor:
Chieh-Hsi Lin, Brandon E Lukas, Ali Rajabi-Estarabadi, Julia Rome May, Yanzhen Pang, Carolina Puyana, Maria Tsoukas, Kamran Avanaki
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
Abstract Epidermal thickness (ET) changes are associated with several skin diseases. To measure ET, segmentation of optical coherence tomography (OCT) images is essential; manual segmentation is very time-consuming and requires training and some unde
Externí odkaz:
https://doaj.org/article/457cf691bf104d96bc6d3f053e16b0e8
Publikováno v:
Energies, Vol 17, Iss 17, p 4430 (2024)
Inertia is the measure of a power system’s ability to resist power interference. The accurate estimation and prediction of inertia are crucial for the safe operation of the power system. To obtain the accurate power system inertia provided by gener
Externí odkaz:
https://doaj.org/article/f61bdfbfccbe4c528976ea3e73abe86b
Publikováno v:
Molecular Genetics and Metabolism. 78:11-16
Argininosuccinate lyase (AL) has several roles in intermediary metabolism. It is an essential component of the urea cycle, providing a pathway for the disposal of excess nitrogen in mammals. AL links the urea cycle to the tricarboxylic acid (TCA) cyc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1175e5f56255209185ba770b9d355028
https://doi.org/10.1016/s1096-7192(02)00206-8
https://doi.org/10.1016/s1096-7192(02)00206-8
Autor:
Yanzhen Pan, John Hicks, Katherine H. Thompson, Christopher McCaskill, William J. Craigen, Brett Casey, Lisa G. Shaffer
Publikováno v:
The American Journal of Human Genetics. 62(6):1551-1555
The authors thank the family for their cooperation. This work was supported in part by the Baylor College of Medicine Mental Retardation Research Center (National Institute of Child Health and Human Development [NICHD] 2P30-HD24064) and Child Health
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::135f51e8ff8575fb07c8d4b7ff2ee9db
Autor:
Jie Tan, Marilyn M. Lusk, Yanzhen Pan, Young Soo Hong, Mulchand S. Patel, Douglas S. Kerr, William J. Craigen
Publikováno v:
Human Molecular Genetics. 5:1925-1930
An infant girl with elevated blood lactate, pyruvate, and plasma branched-chain amino acids was diagnosed with dihydrolipoamide dehydrogenase (E3; dihydrolipoamide: NAD+ oxidoreductase, EC 1.8.1.4) deficiency. Activities of the pyruvate dehydrogenase
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e7b9c96626f1e6062ff6c3c471c895
https://doi.org/10.1093/hmg/5.12.1925
https://doi.org/10.1093/hmg/5.12.1925
Autor:
Michael D. Ehlers, Portia A. McCoy, Yong-hui Jiang, Isabel Lorenzo, Janet Berrios, Adam C. Roberts, Arthur L. Beaudet, Yanzhen Pan, Richard J. Weinberg, Gang Yi Wu, Ramona M. Rodriguiz, Danielle Bousquet-Moore, William C. Wetsel, Jennifer S. Colvin, H. Shawn Je, Xiaoming Wang, Benjamin D. Philpot, Caroline J. Kim
Publikováno v:
Human molecular genetics. 20(15)
SHANK3 is a synaptic scaffolding protein enriched in the postsynaptic density (PSD) of excitatory synapses. Small microdeletions and point mutations in SHANK3 have been identified in a small subgroup of individuals with autism spectrum disorder (ASD)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36c13301b6ec1e02a8128959231709d6
https://pubmed.ncbi.nlm.nih.gov/21558424
https://pubmed.ncbi.nlm.nih.gov/21558424
Autor:
Madeline J. Hooper, Tessa M. LeWitt, Francesca L. Veon, Yanzhen Pang, George E. Chlipala, Leo Feferman, Stefan J. Green, Dagmar Sweeney, Katherine T. Bagnowski, Michael B. Burns, Patrick C. Seed, Joan Guitart, Xiaolong A. Zhou
Publikováno v:
JID Innovations, Vol 2, Iss 5, Pp 100132- (2022)
The nasal microbiome of patients with cutaneous T-cell lymphoma (CTCL) remains unexplored despite growing evidence connecting nasal bacteria to skin health and disease. Nasal swabs from 45 patients with CTCL (40 with mycosis fungoides, 5 with Sézary
Externí odkaz:
https://doaj.org/article/6a81b3a31cc5488688e774cda9e186f2
Autor:
William J. Craigen, Amit K. Maiti, Jean-Louis Blouin, Nathalie Scamuffa, Mark Jorissen, C. D. DeLozier-Blanchet, Yanzhen Pan, Eddie M. K. Chung, Lucia Bartoloni, M Meeks, Colette Rossier, Miguel Armengot, Hannah M. Mitchison, Stylianos E. Antonarakis, Corinne Gehrig
Publikováno v:
Proceedings of the National Academy of Sciences, Vol. 99, No 16 (2002) pp. 10282-10286
Primary ciliary dyskinesia (PCD; MIM 242650) is an autosomal recessive disorder of ciliary dysfunction with extensive genetic heterogeneity. PCD is characterized by bronchiectasis and upper respiratory tract infections, and half of the patients with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc4267bf81e86624880e56ffde0dbae5
https://europepmc.org/articles/PMC124905/
https://europepmc.org/articles/PMC124905/
Autor:
Corinne M. Spencer, Li Zhu, Yong-hui Jiang, Luis Landa, Yanzhen Pan, Arthur L. Beaudet, Isabel Lorenzo, Murray H. Brilliant, Jeffrey L. Noebels, Jong Yoo
Publikováno v:
PLoS ONE
PLoS ONE, Vol 5, Iss 8, p e12278 (2010)
PLoS ONE, Vol 5, Iss 8, p e12278 (2010)
Angelman syndrome (AS) is a neurobehavioral disorder associated with mental retardation, absence of language development, characteristic electroencephalography (EEG) abnormalities and epilepsy, happy disposition, movement or balance disorders, and au
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::09630cc3be5e021da07de7785fef8cb6
https://doi.org/10.1371/journal.pone.0012278
https://doi.org/10.1371/journal.pone.0012278