Publications:

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Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Blood Advances

Koh, Jiwon J; Jang, Insoon I; Mun, Seungchan S; Lee, Cheol C; Cha, Hee Jeong HJ; Oh, Young Ha YH; Kim, Jin-Man JM; Han, Jae Ho JH; Paik, Jin Ho JH; Cho, Junhun J; Ko, Young Hyeh YH; Park, Chan-Sik CS; Go, Heounjeong H; Huh, Jooryung J; Kim, Kwangsoo K; Jeon, Yoon Kyung YK

Publication Date: 2021-10-26

Variant appearance in text: NR0B2: 637C>T; Arg213Cys; rs199976415

PubMed Link: 34535012

Variant Present in the following documents:

• advancesADV2021004562-suppl2.xlsx, sheet 8

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Up to date on cholesterol 7 alpha-hydroxylase (CYP7A1) in bile acid synthesis.

Liver Research

Chiang, John Y L JYL; Ferrell, Jessica M JM

Publication Date: 2020-06

Variant appearance in text: SHP: R213C

PubMed Link: 34290896

Variant Present in the following documents:

• Main text
• nihms-1625271.pdf

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: NR0B2: 637C>T; Arg213Cys; rs199976415

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: NR0B2: R213C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Epigenomic regulation of bile acid metabolism: emerging role of transcriptional cofactors.

Molecular And Cellular Endocrinology

Smith, Zachary Z; Ryerson, Daniel D; Kemper, Jongsook Kim JK

Publication Date: 2013-04-10

Variant appearance in text: SHP: R213C

PubMed Link: 22579755

Variant Present in the following documents:

• Main text

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A pleiotropic role for the orphan nuclear receptor small heterodimer partner in lipid homeostasis and metabolic pathways.

Journal Of Lipids

Garruti, Gabriella G; Wang, Helen H HH; Bonfrate, Leonilde L; de Bari, Ornella O; Wang, David Q-H DQ; Portincasa, Piero P

Publication Date: 2012

Variant appearance in text: NR0B2: R213C

PubMed Link: 22577560

Variant Present in the following documents:

• Main text
• JL2012-304292.pdf

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Role of nuclear receptor SHP in metabolism and cancer.

Biochimica Et Biophysica Acta

Zhang, Yuxia Y; Hagedorn, Curt H CH; Wang, Li L

Publication Date: 2011-08

Variant appearance in text: SHP: 637C>T

PubMed Link: 20970497

Variant Present in the following documents:

• Main text

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Novel polymorphisms of nuclear receptor SHP associated with functional and structural changes.

The Journal Of Biological Chemistry

Zhou, Taofeng T; Zhang, Yuxia Y; Macchiarulo, Antonio A; Yang, Zhihong Z; Cellanetti, Marco M; Coto, Eliecer E; Xu, Pingyi P; Pellicciari, Roberto R; Wang, Li L

Publication Date: 2010-08-06

Variant appearance in text: SHP: R213C

PubMed Link: 20516075

Variant Present in the following documents:

• Main text

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Functional role of G9a-induced histone methylation in small heterodimer partner-mediated transcriptional repression.

Nucleic Acids Research

Boulias, Konstantinos K; Talianidis, Iannis I

Publication Date: 2004

Variant appearance in text: SHP: R213C

PubMed Link: 15550569

Variant Present in the following documents:

• Main text

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Mutations in the small heterodimer partner gene are associated with mild obesity in Japanese subjects.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Nishigori, H H; Tomura, H H; Tonooka, N N; Kanamori, M M; Yamada, S S; Sho, K K; Inoue, I I; Kikuchi, N N; Onigata, K K; Kojima, I I; Kohama, T T; Yamagata, K K; Yang, Q Q; Matsuzawa, Y Y; Miki, T T; Seino, S S; Kim, M Y MY; Choi, H S HS; Lee, Y K YK; Moore, D D DD; Takeda, J J

Publication Date: 2001-01-16

Variant appearance in text: SHP: R213C

PubMed Link: 11136233

Variant Present in the following documents:

• Main text

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