Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: PDGFB: 356T>C; Leu119Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Seronegative neuromyelitis optica spectrum disorder in primary familial brain calcification with PDGFB variant.

Eneurologicalsci

Biyajima, Masahiro M; Kobayashi, Yuya Y; Nakafuji, Kiyoshi K; Watanabe, Rie R; Tazawa, Koichi K; Ishii, Wataru W; Satoh, Shunichi S; Hoshi, Kenichi K; Kurita, Hisaka H; Hozumi, Isao I; Yahikozawa, Hiroyuki H

Publication Date: 2022-06

Variant appearance in text: PDGFB: Leu119Pro

PubMed Link: 35647329

Variant Present in the following documents:

• Main text
• main.pdf

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Case Report: Two Novel Frameshift Mutations in SLC20A2 and One Novel Splice Donor Mutation in PDGFB Associated With Primary Familial Brain Calcification.

Frontiers In Genetics

Shen, Yuqi Y; Shu, Shi S; Ren, Yaqiong Y; Xia, Weibo W; Chen, Jianhua J; Dong, Liling L; Ge, Haijun H; Fan, Shiqi S; Shi, Lei L; Peng, Bin B; Zhang, Xue X

Publication Date: 2021

Variant appearance in text: PDGFB: 356T>C

PubMed Link: 34025715

Variant Present in the following documents:

• Main text
• fgene-12-643452.pdf

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Single C-to-T substitution using engineered APOBEC3G-nCas9 base editors with minimum genome- and transcriptome-wide off-target effects.

Science Advances

Lee, Sangsin S; Ding, Ning N; Sun, Yidi Y; Yuan, Tanglong T; Li, Jing J; Yuan, Qichen Q; Liu, Lizhong L; Yang, Jie J; Wang, Qian Q; Kolomeisky, Anatoly B AB; Hilton, Isaac B IB; Zuo, Erwei E; Gao, Xue X

Publication Date: 2020-07

Variant appearance in text: PDGFB: 356T>C; Leu119Pro

PubMed Link: 32832622

Variant Present in the following documents:

• aba1773_Data_file_S1.xlsx, sheet 2

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Clinical and radiological diversity in genetically confirmed primary familial brain calcification.

Scientific Reports

Koyama, Shingo S; Sato, Hidenori H; Kobayashi, Ryota R; Kawakatsu, Shinobu S; Kurimura, Masayuki M; Wada, Manabu M; Kawanami, Toru T; Kato, Takeo T

Publication Date: 2017-09-21

Variant appearance in text: PDGFB: Leu119Pro

PubMed Link: 28935882

Variant Present in the following documents:

• Main text
• 41598_2017_Article_11595.pdf

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Progressive brain calcifications and signs in a family with the L9R mutation in the PDGFB gene.

Neurology. Genetics

Paucar, Martin M; Almqvist, Håkan H; Saeed, Ahmed A; Bergendal, Gösta G; Ygge, Jan J; Holmin, Staffan S; Björkhem, Ingemar I; Svenningsson, Per P

Publication Date: 2016-08

Variant appearance in text: PDGFB: 356T>C

PubMed Link: 27433546

Variant Present in the following documents:

• supp_2.4.e84_Tables_e-1-e-11.pdf

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Primary brain calcification in patients undergoing treatment with the biphosphanate alendronate.

Scientific Reports

Oliveira, J R M JR; Oliveira, M F MF

Publication Date: 2016-03-15

Variant appearance in text: PDGFB: 356T>C

PubMed Link: 26976513

Variant Present in the following documents:

• Main text

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Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification.

Plos One

Vanlandewijck, Michael M; Lebouvier, Thibaud T; Andaloussi Mäe, Maarja M; Nahar, Khayrun K; Hornemann, Simone S; Kenkel, David D; Cunha, Sara I SI; Lennartsson, Johan J; Boss, Andreas A; Heldin, Carl-Henrik CH; Keller, Annika A; Betsholtz, Christer C

Publication Date: 2015

Variant appearance in text: PDGFB: 356T>C; L119P

PubMed Link: 26599395

Variant Present in the following documents:

• Main text
• pone.0143407.pdf

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