Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model

Jeremy C. McIntyre, Erica E. Davis, Ariell M. Joiner, +21

Nature Medicine

Gene TherapiesNeuroregenerationDevelopmental BiologyRestores Olfactory FunctionGene Therapy Rescues +7

Regulation of Casein Kinase Iϵ Activity by Wnt Signaling

Wojciech Swiatek, I-Chun Tsai, Laura Klimowski, +4

Journal of Biological Chemistry

Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators

Yangfan P. Liu, I-Chun Tsai, Manuela Morleo, +9

Journal of Clinical Investigation

Proteasomal DegradationSignal TransductionDevelopmental BiologyGliomaProtein Function +12

Recurrent CNVs and SNVs at the NPHP1 Locus Contribute Pathogenic Alleles to Bardet-Biedl Syndrome

Anna Lindstrand, Erica E. Davis, Claudia M.B. Carvalho, +14

The American Journal of Human Genetics

Allelic VariantAutoimmune DiseaseGenetic DisorderGeneticsPathogenesis +6

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome

Nina Bögershausen, I-Chun Tsai, Esther Pohl, +25

Journal of Clinical Investigation

A hypomorphic inherited pathogenic variant in DDX3X causes male intellectual disability with additional neurodevelopmental and neurodegenerative features

Georgios Kellaris, Kamal Khan, Shahid Mahmood Baig, +5

Human Genomics

A Wnt-CKIɛ-Rap1 Pathway Regulates Gastrulation by Modulating SIPA1L1, a Rap GTPase Activating Protein

I-Chun Tsai, Jeffrey D. Amack, Zhonghua Gao, +3

Developmental Cell

Signal TransductionDevelopmental BiologySignaling PathwayMolecular PathwayNatural Sciences +6

<em>In Vivo</em> Modeling of the Morbid Human Genome using <em>Danio rerio</em>

Adrienne R. Niederriter, Erica E. Davis, Christelle Golzio, +3

Journal of Visualized Experiments

Germline-Activating RRAS2 Mutations Cause Noonan Syndrome

Tetsuya Niihori, Koki Nagai, Atsushi Fujita, +16

The American Journal of Human Genetics

Genetic DisorderMedicineGeneticsPathogenesisPathology +2

Small molecule inhibition of RAS/MAPK signaling ameliorates developmental pathologies of Kabuki Syndrome

I-Chun Tsai, Kelly McKnight, Spencer U. McKinstry, +8

Scientific Reports

Developmental BiologySignal TransductionMolecular NeuroscienceSignaling PathwayReceptor Tyrosine Kinase +12