Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Hyunpil, Lee"'
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)
Abstract Background Autism spectrum disorder (ASD) has a strong genetic etiology. Germline mutation in the tumor suppressor gene PTEN is one of the best described monogenic risk cases for ASD. Animal modeling of cell-specific Pten loss or mutation ha
Externí odkaz:
https://doaj.org/article/c33ea060a4a940da90836b4b7b2a3d90
Autor:
Shin Chung Kang, Ritika Jaini, Masahiro Hitomi, Hyunpil Lee, Nick Sarn, Stetson Thacker, Charis Eng
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-16 (2020)
Abstract Background PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we continue to have a limi
Externí odkaz:
https://doaj.org/article/21bd71636b7445fa91f64efb5e54f5e7
Publikováno v:
Molecular Autism, Vol 12, Iss 1, Pp 1-19 (2021)
Molecular Autism
Molecular Autism
Background Autism spectrum disorder (ASD) has a strong genetic etiology. Germline mutation in the tumor suppressor gene PTEN is one of the best described monogenic risk cases for ASD. Animal modeling of cell-specific Pten loss or mutation has provide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87126feca434accdd1d4732910d05b95
https://doaj.org/article/c33ea060a4a940da90836b4b7b2a3d90
https://doaj.org/article/c33ea060a4a940da90836b4b7b2a3d90
Publikováno v:
Molecular Psychiatry
Germline mutations in PTEN account for ~10% of cases of autism spectrum disorder (ASD) with coincident macrocephaly. To explore the importance of nuclear PTEN in the development of ASD and macrocephaly, we previously generated a mouse model with pred
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e01c08106251c4eee001b42f7b6ff3d5
https://doi.org/10.1038/s41380-020-0681-0
https://doi.org/10.1038/s41380-020-0681-0
Effect of SPARC Suppression in Mice, Perfused Human Anterior Segments, and Trabecular Meshwork Cells
Autor:
William W, MacDonald, Swarup S, Swaminathan, Jae Young, Heo, Alexandra, Castillejos, Jessica, Hsueh, Brian J, Liu, Diane, Jo, Annie, Du, Hyunpil, Lee, Min Hyung, Kang, Douglas J, Rhee
Publikováno v:
Investigative Opthalmology & Visual Science. 63:8
Secreted protein, acidic and rich in cysteine (SPARC) elevates intraocular pressure (IOP), increases certain structural extracellular matrix (ECM) proteins in the juxtacanalicular trabecular meshwork (JCT), and decreases matrix metalloproteinase (MMP
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2bfd112adc2dc0264637ad54054be74
https://doi.org/10.1167/iovs.63.6.8
https://doi.org/10.1167/iovs.63.6.8
Autor:
Nick Sarn, Shin Chung Kang, Hyunpil Lee, Ritika Jaini, Charis Eng, Stetson Thacker, Masahiro Hitomi
Publikováno v:
Molecular Autism, Vol 11, Iss 1, Pp 1-16 (2020)
Molecular Autism
Molecular Autism
Background PTEN, a syndromic autism spectrum disorder (ASD) risk gene, is mutated in approximately 10% of macrocephalic ASD cases. Despite the described genetic association between PTEN and ASD and ensuing studies, we continue to have a limited under
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9147f20e1b075208fe2893f1e1d2db5
https://doi.org/10.1186/s13229-020-00337-2
https://doi.org/10.1186/s13229-020-00337-2
Autor:
Kang, Shin Chung, Ritika Jaini, Hitomi, Masahiro, Hyunpil Lee, Sarn, Nick, Stetson Thacker, Eng, Charis
Additional file 1: Supplementary Information. Decreased nuclear Pten in neural stem cells contributes to deficits in neuronal maturation. Figure S1. Neural stem cells (NSCs) derived from Ptenm3m4 mice have higher stemness characteristics. a NSCs deri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f6194de1f118efe53c371338e624fc4
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Vol 9, Iss 1, Pp 1-12 (2019)
Translational Psychiatry, Vol 9, Iss 1, Pp 1-12 (2019)
There is a strong genetic association between germline PTEN mutation and autism spectrum disorder (ASD), making Pten-mutant models exemplary for the study of ASD pathophysiology. We developed the Ptenm3m4 mouse, where Pten is largely restricted from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f32fa362179ac60d2f671c62d96818d1
https://doi.org/10.1038/s41398-018-0364-7
https://doi.org/10.1038/s41398-018-0364-7
Autor:
Liu, Zhigang, Xin, Baozhong, Smith, Iris N, Sency, Valerie, Szekely, Julia, Alkelai, Anna, Shuldiner, Alan, Efthymiou, Stephanie, Rajabi, Farrah, Coury, Stephanie, Brownstein, Catherine A, Rudnik-Schöneborn, Sabine, Bruel, Ange-Line, Thevenon, Julien, Zeidler, Shimriet, Jayakar, Parul, Schmidt, Axel, Cremer, Kirsten, Engels, Hartmut, Peters, Sophia O
Publikováno v:
Human Molecular Genetics; 10/15/2023, Vol. 32 Issue 20, p2981-2995, 15p
Autor:
Kang, Shin Chung1 (AUTHOR), Jaini, Ritika1,2,3 (AUTHOR), Hitomi, Masahiro1,2 (AUTHOR), Lee, Hyunpil1 (AUTHOR), Sarn, Nick1,4 (AUTHOR), Thacker, Stetson1,2 (AUTHOR), Eng, Charis1,2,3,4,5 (AUTHOR) engc@ccf.org
Publikováno v:
Molecular Autism. 6/1/2020, Vol. 11 Issue 1, p1-16. 16p.