Publications:

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Inherited Disorders of Thyroid Hormone Metabolism Defect Caused by the Dysregulation of Selenoprotein Expression.

Frontiers In Endocrinology

Lee, Kyu Won KW; Shin, Yoochan Y; Lee, Sungahn S; Lee, Sihoon S

Publication Date: 2021

Variant appearance in text: SECISBP2: 235C>T; Q79X

PubMed Link: 35126314

Variant Present in the following documents:

• Main text
• fendo-12-803024.pdf

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Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology

Li, Na N; Wang, Jiahong J; Zhan, Xianquan X

Publication Date: 2021

Variant appearance in text: SECISBP2: 235C>T; Gln79Ter

PubMed Link: 34887858

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 235C>T

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

View BVdb publication page

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Human Genetic Disorders Resulting in Systemic Selenoprotein Deficiency.

International Journal Of Molecular Sciences

Schoenmakers, Erik E; Chatterjee, Krishna K

Publication Date: 2021-11-29

Variant appearance in text: SECISBP2: 235C>T

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

View BVdb publication page

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Clinical and Molecular Analysis in 2 Families With Novel Compound Heterozygous SBP2 (SECISBP2) Mutations.

The Journal Of Clinical Endocrinology And Metabolism

Fu, Jiao J; Korwutthikulrangsri, Manassawee M; Gönç, E Nazli EN; Sillers, Laura L; Liao, Xiao-Hui XH; Alikaşifoğlu, Ayfer A; Kandemir, Nurgün N; Menucci, Maria Belen MB; Burman, Kenneth D KD; Weiss, Roy E RE; Dumitrescu, Alexandra M AM

Publication Date: 2020-03-01

Variant appearance in text: SBP2: 235C>T

PubMed Link: 32084277

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: SECISBP2: Q79*

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: SECISBP2: Q79*

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 4

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: SECISBP2: 235C>T; Q79*

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Enhancement of lipid peroxidation and its amelioration by vitamin E in a subject with mutations in the SBP2 gene.

Journal Of Lipid Research

Saito, Yoshiro Y; Shichiri, Mototada M; Hamajima, Takashi T; Ishida, Noriko N; Mita, Yuichiro Y; Nakao, Shohei S; Hagihara, Yoshihisa Y; Yoshida, Yasukazu Y; Takahashi, Kazuhiko K; Niki, Etsuo E; Noguchi, Noriko N

Publication Date: 2015-11

Variant appearance in text: SBP2: Q79X

PubMed Link: 26411970

Variant Present in the following documents:

• Main text
• 2172.pdf

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: SECISBP2: Q79*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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Synthesis and decoding of selenocysteine and human health.

Croatian Medical Journal

Schmidt, Rachel L RL; Simonović, Miljan M

Publication Date: 2012-12

Variant appearance in text: SBP2: Q79X

PubMed Link: 23275319

Variant Present in the following documents:

• Main text
• CroatMedJ_53_0535.pdf

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The syndromes of reduced sensitivity to thyroid hormone.

Biochimica Et Biophysica Acta

Dumitrescu, Alexandra M AM; Refetoff, Samuel S

Publication Date: 2013-07

Variant appearance in text: SBP2: 235C>T

PubMed Link: 22986150

Variant Present in the following documents:

• Main text

View BVdb publication page

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