Functional characterisation guides classification of novel BAP1 germline variants

Functional characterisation guides classification of novel BAP1 germline variants

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 of unknown BAP1 germline variants. We found that pa...

Saved in:

書目詳細資料
Main Authors:	Hong, Jing Han, Chong, Siao Ting, Lee, Po-Hsien, Tan, Jing, Heng, Hong Lee, Nur Diana Ishak, Chan, Sock Hoai, Teh, Bin Tean, Ngeow, Joanne
其他作者:	Lee Kong Chian School of Medicine (LKCMedicine)
格式:	Article
語言:	English
出版:	2021
主題:	Science::Medicine Clinical Genetics Genetics Research
在線閱讀:	https://hdl.handle.net/10356/146677
標簽:	添加標簽沒有標簽, 成為第一個標記此記錄!

相似書籍

Functional characterisation guides classification of novel BAP1 germline variants
由: Hong, J.H., et al.
出版: (2021)

COVID-19 vaccination uptake and safety profile among germline BRCA1 and BRCA2 pathogenic variant carriers in Singapore
由: Zhang, Zewen, et al.
出版: (2023)

Functional analysis of clinical BARD1 germline variants
由: Toh, Ming Ren, et al.
出版: (2020)

Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation
由: Chan, Jason Yongsheng, et al.
出版: (2021)

Impact of variant reclassification in cancer predisposition genes on clinical care
由: Chiang, Jianbang, et al.
出版: (2023)

Functional analysis of germline RAD51C missense variants highlight the role of RAD51C in replication fork protection
由: Kolinjivadi, Arun Mouli, et al.
出版: (2023)

Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML
由: Yang F.
出版: (2023)

Identification and prioritization of myeloid malignancy germline variants in a large cohort of adult patients with AML
由: Fei Yang, et al.
出版: (2022)

Correction: Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer (vol 17, 66, 2023)
由: Lee, Ning-Yuan, et al.
出版: (2024)

Landscape of germline pathogenic variants in patients with dual primary breast and lung cancer
由: Lee, Ning-Yuan, et al.
出版: (2024)

A delayed diagnosis of Pallister-Hall syndrome in an adult male following the incidental detection of a hypothalamic hamartoma
由: Courtney, Eliza, et al.
出版: (2020)

Germline mutations in cancer predisposition genes are frequent in sporadic sarcomas
由: Chan, Sock Hoai, et al.
出版: (2018)

Germline Mutations in Cancer Predisposition Genes are Frequent in Sporadic Sarcomas
由: Chan, S.H, et al.
出版: (2020)

BAP1 regulation of the key adaptor protein NCoR1 is critical for γ-globin gene repression
由: Lei Yu, et al.
出版: (2019)

Homologues of Piwi control transposable elements and development of male germline in Penaeus monodon
由: Suchitraporn Sukthaworn, et al.
出版: (2020)

Characterisation of protein-truncating and missense variants in PALB2 in 15 768 women from Malaysia and Singapore
由: Ng, PS, et al.
出版: (2021)

Multiple functions of shutdown in Drosophila germline development
由: Chong, Jeronica Wen Hui
出版: (2014)

Vulnerability and the Ethics of Human Germline Genome Editing
由: Labude, Markus K, et al.
出版: (2022)

Functional analysis of a conserved tudor domain protein, tejas, in the germline of drosophila melanogaster
由: Veena Shivagouda Patil
出版: (2011)

An MPER antibody neutralizes HIV-1 using germline features shared among donors
由: Lei Zhang, et al.
出版: (2020)

Germline transgenesis and insertional mutagenesis in Schistosoma mansoni mediated by murine leukemia virus
由: Gabriel Rinaldi, et al.
出版: (2018)

Germline genome editing: Moratorium, hard law, or an informed adaptive consensus?
由: Kaan, Terry, et al.
出版: (2022)

Whole-genome characterisation of multidrug resistant monophasic variants of salmonella typhimurium from pig production in Thailand
由: Prapas Patchanee, et al.
出版: (2020)

Antibody germline characterization of cross-neutralizing human IgGs against 4 serotypes of dengue virus
由: Pannamthip Pitaksajjakul, et al.
出版: (2018)

Analysis of clinically relevant variants from ancestrally diverse Asian genomes
由: Chan, Sock Hoai, et al.
出版: (2023)

Viral Induction of Novel Somatic and Germline DNA Functions in Host Arthropods Opens a New Research Frontier in Biology
由: Timothy W. Flegel
出版: (2022)

Viral Induction of Novel Somatic and Germline DNA Functions in Host Arthropods Opens a New Research Frontier in Biology
由: Flegel T.W.
出版: (2023)

Germline replacement by blastula cell transplantation in the fish medaka
由: Li M., et al.
出版: (2020)

Understanding cancer predisposition in Singapore: what's next
由: Chiang, Jianbang, et al.
出版: (2023)

Common germline polymorphisms associated with breast cancer-specific survival
由: Pirie, A, et al.
出版: (2020)

Germline and somatic SDHx alterations in apparently sporadic differentiated thyroid cancer
由: Ni, Y, et al.
出版: (2020)

Characteristics of breast cancer patients tested for germline BRCA1/2 mutations by next-generation sequencing in Ramathibodi Hospital, Mahidol University
由: Oranratnachai S.
出版: (2023)

Characterisation of proteins in the storage organs of Curcuma alismatifolia Gagnep
由: Anuwong,C., et al.
出版: (2015)

Association analysis of PSAP variants in Parkinson's disease patients
由: Chao, Yin Xia, et al.
出版: (2021)

Characteristics of breast cancer patients tested for germline BRCA1/2 mutations by next-generation sequencing in Ramathibodi Hospital, Mahidol University
由: Songporn Oranratnachai, et al.
出版: (2022)

Medaka vasa gene has an exonic enhancer for germline expression
由: Li, Mingyou, et al.
出版: (2016)

Germline variation controls the architecture of somatic alterations in tumors
由: Dworkin A.M., et al.
出版: (2019)

Structural and biophysical characterization of the cytoplasmic domains of human BAP29 and BAP31
由: Löw, Christian, et al.
出版: (2013)

Peptide inhibitors of protein kinases - Discovery, characterisation and use
由: Marie A. Bogoyevitch, et al.
出版: (2018)

G-6-PD variants in laotians
由: Vicharn Panich
出版: (2018)