Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Siao Ting Chong"'
Autor:
Arun Mouli Kolinjivadi, Siao Ting Chong, Ramveer Choudhary, Haresh Sankar, Ee Ling Chew, Claresta Yeo, Sock Hoai Chan, Joanne Ngeow
Publikováno v:
Human Molecular Genetics. 32:1401-1409
Monoallelic or biallelic RAD51C germline mutations results in chromosome instability disorders such as fanconi anemia (FA) and cancers. The bona fide function of RAD51C is to assist RAD51 nucleoprotein filament onto single strand DNA to complete Homo
Autor:
Tze Hao Chia, Sock Hoai Chan, Siao Ting Chong, Tarryn Shaw, Jeanette Yuen, Ee Ling Chew, Joanne Ngeow, Nur Diana Binte Ishak, Jianbang Chiang, Shao-Tzu Li
Publikováno v:
JCO precision oncology. 5
PURPOSE Genetic testing has clinical utility in the management of patients with hereditary cancer syndromes. However, the increased likelihood of encountering a variant of uncertain significance in individuals of non-European descent such as Asians m
Autor:
Longjie Li, Arun Mouli Kolinjivadi, Kok Haur Ong, David M Young, Gabriel Pik Liang Marini, Sock Hoai Chan, Siao Ting Chong, Ee Ling Chew, Haoda Lu, Laurent Gole, Weimiao Yu, Joanne Ngeow
Motivation DNA fibre assay has a potential application in genomic medicine, cancer and stem cell research at the single-molecule level. A major challenge for the clinical and research implementation of DNA fibre assays is the slow speed in which manu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97942eadae10fcde42e271141a58020e
https://hdl.handle.net/10356/164980
https://hdl.handle.net/10356/164980
Publikováno v:
Endocrine-related cancer. 28(2)
Co-ordinated oscillation of mammalian circadian clock and cell cycle is essential for cellular and organismal homeostasis. Existing preclinical, epidemiological, molecular and biochemical evidence reveals a robust interplay between circadian clock, g
Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation
Autor:
Li Shao-Tzu, Joanne Ngeow, Sock Hoai Chan, Arnoud Boot, Min-Hoe Chew, Nur Diana Binte Ishak, Ming Ren Toh, Jason Yongsheng Chan, Arun Mouli Kolinjivadi, Siao Ting Chong, Elizabeth Lee
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-6 (2020)
Gitelman syndrome is a rare, recessively inherited disease characterized by chronic hypokalemia and hypomagnesemia as a result of defective electrolyte co-transport at the level of the distal convoluted tubule of the kidney. Here, we present the firs
Autor:
Soo-Chin Lee, Weng Khong Lim, Zoe Li Ting Ang, Arun Mouli Kolinjivadi, Diana Ishak, Jianbang Chiang, Sock Hoai Chan, Haresh Sankar, Tarryn Shaw, Jing Xian Teo, Eliza Courtney, Siao Ting Chong, Marie Loh, Hui-Yuan Yeh, Joanne Ngeow, Li Zhou, Shao-Tzu Li
Publikováno v:
International journal of cancerREFERENCES. 148(3)
Identification of ancestry-specific pathogenic variants is imperative for diagnostic, treatment, management and prevention strategies, and to understand penetrance/modifiers on risk. Our study aimed to determine the clinical significance of a recurre
Autor:
Amélie Rodrigue, Jean-Yves Masson, Eliza Courtney, Nur Diana Binte Ishak, Chen Ee Low, Siao Ting Chong, Joanne Ngeow, Sock Hoai Chan, Arun Mouli Kolinjivadi, Ming Ren Toh
Publikováno v:
Familial cancer. 19(2)
The PALB2 protein is essential to RAD51-mediated homologous recombination (HR) repair. Germline monoallelic PALB2 pathogenic variants confer significant risks for breast cancer. However, the majority of PALB2 variants remain classified as variants of
Autor:
Jason Yongsheng, Chan, Ming Ren, Toh, Siao Ting, Chong, Nur Diana Binte, Ishak, Arun Mouli, Kolinjivadi, Sock Hoai, Chan, Elizabeth, Lee, Arnoud, Boot, Li, Shao-Tzu, Min-Hoe, Chew, Joanne, Ngeow
Publikováno v:
NPJ Genomic Medicine
Gitelman syndrome is a rare, recessively inherited disease characterized by chronic hypokalemia and hypomagnesemia as a result of defective electrolyte co-transport at the level of the distal convoluted tubule of the kidney. Here, we present the firs
Autor:
Sock Hoai Chan, Hong Lee Heng, Po-Hsien Lee, Siao Ting Chong, Bin Tean Teh, Joanne Ngeow, Jing Han Hong, Jing Tan, Nur Diana Binte Ishak
Publikováno v:
npj Genomic Medicine, Vol 5, Iss 1, Pp 1-10 (2020)
NPJ Genomic Medicine
NPJ Genomic Medicine
We have identified six patients harbouring distinct germline BAP1 mutations. In this study, we functionally characterise known BAP1 pathogenic and likely benign germline variants out of these six patients to aid in the evaluation and classification o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d68896387808b07937a2bb57a3bd279b
https://hdl.handle.net/10356/146677
https://hdl.handle.net/10356/146677
Autor:
Charis Eng, Joanne Ngeow, Siang Hui Lai, Khee Ming Tan, Cindy Lim, Shou Ping Guan, Paula Y.P. Lam, Siao Ting Chong, Jiancheng Hu, Catherine Y L Kok, Charles D. Sturgis
Publikováno v:
The Journal of clinical endocrinology and metabolism. 104(11)
Context The interleukin-13 receptor alpha2 (IL13RA2), which is known to be overexpressed in glioblastoma multiforme, plays a role in various cellular processes such as cell migration that may contribute to tumor progression. Studies have attributed I