Zobrazeno 1 - 10
of 105
pro vyhledávání: '"Chon-Hwa Tsai Morris"'
Autor:
Wei-Chia Tseng, Hannah E. Loeb, Wuhong Pei, Chon-Hwa Tsai-Morris, Lisha Xu, Celine V. Cluzeau, Christopher A. Wassif, Benjamin Feldman, Shawn M. Burgess, William J. Pavan, Forbes D. Porter
Publikováno v:
Disease Models & Mechanisms, Vol 11, Iss 9 (2018)
Niemann-Pick disease type C1 (NPC1) is a rare autosomal recessive lysosomal storage disease primarily caused by mutations in NPC1. NPC1 is characterized by abnormal accumulation of unesterified cholesterol and glycolipids in late endosomes and lysoso
Externí odkaz:
https://doaj.org/article/56fcfa5c85bd4a1eb7330a4d2e257a35
Autor:
Raghuveer Kavarthapu, Chon-Hwa Tsai Morris, Rajakumar Anbazhagan, Murugananthkumar Raju, James Pickel, Maria L. Dufau
Publikováno v:
Hum Mol Genet
Gonadotropin-regulated testicular RNA helicase (GRTH/DDX25) is a testis specific member of the DEAD-box family of RNA helicases expressed in meiotic and haploid germ cells which plays an essential role in spermatogenesis. There are two species of GRT
Autor:
Ryan K. Dale, James R. Iben, Rosario Y, Kaler Sg, Chang E, Hertafeld S, Yi L, Benjamin Feldman, Chon-Hwa Tsai-Morris, Steve Coon
CRISPR/Cas9 is a powerful tool for producing genomic insertions and deletions (indels) to interrogate gene function. Modified CRISPR/Cas9 protocols can produce targeted genetic changes that are more precise than indels, but founder recovery is less e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::caff6b87c4b220ab8d5c8af336967291
https://doi.org/10.1101/2021.04.20.440537
https://doi.org/10.1101/2021.04.20.440537
Autor:
Benjamin Feldman, Laura C. Hernández-Ramírez, Giampaolo Trivellin, Harold A. Burgess, Amit Tirosh, Constantine A. Stratakis, Chon Hwa Tsai-Morris, Fabio R. Faucz, Tripti Gupta
Publikováno v:
Mol Cell Endocrinol
We recently described X-linked acrogigantism (X-LAG), a condition of early childhood-onset pituitary gigantism associated with microduplications of the GPR101 receptor. The expression of GPR101 in hyperplastic pituitary regions and tumors in X-LAG pa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::754bb9afaec2d6f7cd3d3b9c33034f32
https://europepmc.org/articles/PMC8771005/
https://europepmc.org/articles/PMC8771005/
Autor:
Chon-Hwa Tsai-Morris, Margolin, Gennady, R Dale, D Chauss, Kemper, Claudia, B Afzali, Feldman, Benjamin
CD-46 plays a crucial role in the human immune system. We wish to illuminate the role of zebrafish rca2.1, a CD-46 ortholog, in development and health. The sequence and expression of rca2.1 suggests it is a better orthologue to human CD-46 than murin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9148679948cbf2d91b403f2f49bc38cd
Autor:
Wei-Chia Tseng, Escauriza, Ana, Chon-Hwa Tsai-Morris, Feldman, Benjamin, Wassif, Christopher A., Porter, Forbes D.
Poster presentation of Wei-Chia Tseng 1698C
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19b86651fe02e7e3cb5e1d5ccfd85424
Publikováno v:
PLoS ONE, Vol 7, Iss 3, p e32470 (2012)
Gonadotropin Regulated Testicular RNA Helicase (GRTH/Ddx25) is a testis-specific multifunctional RNA helicase and an essential post-transcriptional regulator of spermatogenesis. GRTH transports relevant mRNAs from nucleus to cytoplasmic sites of meio
Externí odkaz:
https://doaj.org/article/8522baf43a994053b0df50e0197808df
Autor:
Andrea Gutierrez Maria, Laura Hernandez-Ramirez, Giampaolo Trivellin, Fanny Chasseloup, Margarita Dionysiou, Gabriela Vasques, Benjamin Feldman, Chon-Hwa Tsai-Morris, Fabio Faucz, Alexander Jorge, Constantine Stratakis
Publikováno v:
Journal of the Endocrine Society
Background: Short stature is a common pediatric disorder, affecting 3% of the population; however, the identification of its cause is limited by its largely variable clinical presentation and genetic heterogeneity. Identification of novel genetic cau
Autor:
Chon-Hwa Tsai-Morris, Christopher A. Wassif, Wei-Chia Tseng, Benjamin Feldman, Ana J Johnson Escauriza, Forbes D. Porter, Ryan K. Dale
Publikováno v:
Development
Niemann-Pick disease type C (NPC) is a rare, fatal, neurodegenerative lysosomal disease caused by mutations of either NPC1 or NPC2. NPC2 is a soluble lysosomal protein which functions in coordination with NPC1 to efflux cholesterol from the lysosomal
Publikováno v:
Current Women's Health Reviews. 10:93-106