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Browse "Graduate School of Medical Science & Engineering(의과학대학원)" by Author Gleeson, Joseph G.

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Showing results 1 to 11 of 11

1
CCDC41 is required for ciliary vesicle docking to the mother centriole

Joo, Kwangsic; Kim, Chang Gun; Lee, Mi-Sun; Moon, Hyun-Yi; Lee, Sang-Hee; Kim, Mi Jeong; Kweon, Hee-Seok; et al, PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, v.110, no.15, pp.5987 - 5992, 2013-04

2
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Lee, Ji Eun; Silhavy, Jennifer L.; Zaki, Maha S.; Schroth, Jana; Bielas, Stephanie L.; Marsh, Sarah E.; Olvera, Jesus; et al, NATURE GENETICS, v.44, no.2, pp.193 - 199, 2012-02

3
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly

Lee, Jeong Ho; My Huynh; Silhavy, Jennifer L.; Kim, Sangwoo; Dixon-Salazar, Tracy; Heiberg, Andrew; Scott, Eric; et al, NATURE GENETICS, v.44, no.8, pp.941 - 941, 2012-08

4
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome

Lancaster, Madeline A.; Gopal, Dipika J.; Kim, Joon; Saleem, Sahar N.; Silhavy, Jennifer L.; Louie, Carrie M.; Thacker, Bryan E.; et al, NATURE MEDICINE, v.17, no.6, pp.726 - 731, 2011-06

5
Evolutionarily Assembled cis-Regulatory Module at a Human Ciliopathy Locus

Lee, Jeong Ho; Silhavy, Jennifer L.; Lee, Ji Eun; Al-Gazali, Lihadh; Thomas, Sophie; Davis, Erica E.; Bielas, Stephanie L.; et al, SCIENCE, v.335, no.6071, pp.966 - 969, 2012-02

6
Functional genomic screen for modulators of ciliogenesis and cilium length

Kim, Joon; Lee, Ji Eun; Heynen-Genel, Susanne; Suyama, Eigo; Ono, Keiichiro; Lee, KiYoung; Ideker, Trey; et al, NATURE, v.464, no.7291, pp.1048 - 1051, 2010-04

7
Genome-wide screen identifies novel machineries required for both ciliogenesis and cell cycle arrest upon serum starvation

Kim, Ji Hyun; Ki, Soo Mi; Joung, Je-Gun; Scott, Eric; Heynen-Genel, Susanne; Aza-Blanc, Pedro; Kwon, Chang Hyuk; et al, BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH, v.1863, no.6, pp.1307 - 1318, 2016-06

8
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

Valente, Enza Maria; Logan, Clare V.; Mougou-Zerelli, Soumaya; Lee, Jeong Ho; Silhavy, Jennifer L.; Brancati, Francesco; Iannicelli, Miriam; et al, NATURE GENETICS, v.42, no.7, pp.619 - 625, 2010-07

9
The role of primary cilia in neuronal function

Lee, Jeong Ho; Gleeson, Joseph G., NEUROBIOLOGY OF DISEASE, v.38, pp.167 - 172, 2010-05

10
Virmid: accurate detection of somatic mutations with sample impurity inference

Kim, Sangwoo; Jeong, Kyowon; Bhutani, Kunal; Lee, Jeong Ho; Patel, Anand; Scott, Eric; Nam, Hojung; et al, GENOME BIOLOGY, v.14, no.8, 2013

11
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome

Martinez, Fernando Jose; Lee, Jeong Ho; Lee, Ji Eun; Blanco, Sandra; Nickerson, Elizabeth; Gabriel, Stacey; Frye, Michaela; et al, JOURNAL OF MEDICAL GENETICS, v.49, no.6, pp.380 - 385, 2012-06

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