Publications:

---

Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.

International Journal Of Molecular Sciences

Li, Menglin M; Li, Zhuo Z; Chen, Miaomiao M; Hu, Zhiqing Z; Zhou, Miaojin M; Wu, Lingqian L; Zhang, Chunhua C; Liang, Desheng D

Publication Date: 2023-01-02

Variant appearance in text: SBP2: R128X

PubMed Link: 36614229

Variant Present in the following documents:

• ijms-24-00786.pdf

View BVdb publication page

---

Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications

Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL

Publication Date: 2022-11-07

Variant appearance in text: SECISBP2: R128X

PubMed Link: 36344544

Variant Present in the following documents:

• 41467_2022_34523_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

---

High-Resolution Ribosome Profiling Reveals Gene-Specific Details of UGA Re-Coding in Selenoprotein Biosynthesis.

Biomolecules

Bohleber, Simon S; Fradejas-Villar, Noelia N; Zhao, Wenchao W; Reuter, Uschi U; Schweizer, Ulrich U

Publication Date: 2022-10-17

Variant appearance in text: SBP2: R128X

PubMed Link: 36291713

Variant Present in the following documents:

• biomolecules-12-01504.pdf

View BVdb publication page

---

Genetic disorders of thyroid development, hormone biosynthesis and signalling.

Clinical Endocrinology

Moran, Carla C; Schoenmakers, Nadia N; Visser, W Edward WE; Schoenmakers, Erik E; Agostini, Maura M; Chatterjee, Krishna K

Publication Date: 2022-10

Variant appearance in text: SBP2: R128X

PubMed Link: 35999191

Variant Present in the following documents:

• CEN-97-502.pdf

View BVdb publication page

---

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: 382C>T; R128X

PubMed Link: 35126314

Variant Present in the following documents:

• Main text
• fendo-12-803024.pdf

View BVdb publication page

---

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: 382C>T

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

View BVdb publication page

---

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: 382C>T

PubMed Link: 34884733

Variant Present in the following documents:

• Main text
• ijms-22-12927.pdf

View BVdb publication page

---

The Neurobiology of Selenium: Looking Back and to the Future.

Frontiers In Neuroscience

Schweizer, Ulrich U; Bohleber, Simon S; Zhao, Wenchao W; Fradejas-Villar, Noelia N

Publication Date: 2021

Variant appearance in text: SBP2: R128X

PubMed Link: 33732108

Variant Present in the following documents:

• fnins-15-652099.pdf

View BVdb publication page

---

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: 382C>T

PubMed Link: 32084277

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back.

Frontiers In Endocrinology

Rurale, Giuditta G; Di Cicco, Emery E; Dentice, Monica M; Salvatore, Domenico D; Persani, Luca L; Marelli, Federica F; Luongo, Cristina C

Publication Date: 2019

Variant appearance in text: SBP2: R128X

PubMed Link: 32038483

Variant Present in the following documents:

• fendo-10-00912.pdf

View BVdb publication page

---

SBP2 deficiency in adipose tissue macrophages drives insulin resistance in obesity.

Science Advances

Wang, Ning N; Tan, Hor-Yue HY; Li, Sha S; Wang, Di D; Xu, Yu Y; Zhang, Cheng C; Xia, Wen W; Che, Chi-Ming CM; Feng, Yibin Y

Publication Date: 2019-08

Variant appearance in text: SBP2: R128X

PubMed Link: 31453320

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of the Selenoprotein S Positive UGA Recoding (SPUR) element and its position-dependent activity.

Rna Biology

Cockman, Eric M EM; Narayan, Vivek V; Willard, Belinda B; Shetty, Sumangala P SP; Copeland, Paul R PR; Driscoll, Donna M DM

Publication Date: 2019-12

Variant appearance in text: SBP2: R128X

PubMed Link: 31432740

Variant Present in the following documents:

• krnb-16-12-1653681.pdf

View BVdb publication page

---

Ribosome profiling of selenoproteins in vivo reveals consequences of pathogenic Secisbp2 missense mutations.

The Journal Of Biological Chemistry

Zhao, Wenchao W; Bohleber, Simon S; Schmidt, Henrik H; Seeher, Sandra S; Howard, Michael T MT; Braun, Doreen D; Arndt, Simone S; Reuter, Uschi U; Wende, Hagen H; Birchmeier, Carmen C; Fradejas-Villar, Noelia N; Schweizer, Ulrich U

Publication Date: 2019-09-27

Variant appearance in text: SECISBP2: R128X

PubMed Link: 31350336

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Selenium and Selenoproteins in Immune Mediated Thyroid Disorders.

Diagnostics (Basel, Switzerland)

Santos, Liliana R LR; Neves, Celestino C; Melo, Miguel M; Soares, Paula P

Publication Date: 2018-10-04

Variant appearance in text: SECISBP2: R128X

PubMed Link: 30287753

Variant Present in the following documents:

• Main text
• diagnostics-08-00070.pdf

View BVdb publication page

---

Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism.

Scientific Reports

Park, Eunkuk E; Jung, Jaehoon J; Araki, Osamu O; Tsunekawa, Katsuhiko K; Park, So Young SY; Kim, Jeonghyun J; Murakami, Masami M; Jeong, Seon-Yong SY; Lee, Sihoon S

Publication Date: 2018-07-04

Variant appearance in text: SBP2: R128X

PubMed Link: 29973617

Variant Present in the following documents:

• 41598_2018_Article_28480.pdf

View BVdb publication page

---

A Novel Homozygous Selenocysteine Insertion Sequence Binding Protein 2 (SECISBP2, SBP2) Gene Mutation in a Turkish Boy.

Thyroid : Official Journal Of The American Thyroid Association

Çatli, Gönül G; Fujisawa, Haruki H; Kirbiyik, Özgür Ö; Mimoto, Mizuho S MS; Gençpinar, Pinar P; Özdemir, Taha Reşid TR; Dündar, Bumin Nuri BN; Dumitrescu, Alexandra M AM

Publication Date: 2018-09

Variant appearance in text: SECISBP2: R128*

PubMed Link: 29882503

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Thyroid hormone status in patients with severe selenium deficiency.

Clinical Pediatric Endocrinology : Case Reports And Clinical Investigations : Official Journal Of The Japanese Society For Pediatric Endocrinology

Kawai, Masanobu M; Shoji, Yasuko Y; Onuma, Shinsuke S; Etani, Yuri Y; Ida, Shinobu S

Publication Date: 2018

Variant appearance in text: SBP2: R128X

PubMed Link: 29662265

Variant Present in the following documents:

• cpe-27-067.pdf

View BVdb publication page

---

Selenium Status Is Positively Associated with Bone Mineral Density in Healthy Aging European Men.

Plos One

Beukhof, Carolien M CM; Medici, Marco M; van den Beld, Annewieke W AW; Hollenbach, Birgit B; Hoeg, Antonia A; Visser, W Edward WE; de Herder, Wouter W WW; Visser, Theo J TJ; Schomburg, Lutz L; Peeters, Robin P RP

Publication Date: 2016

Variant appearance in text: SBP2: R128X

PubMed Link: 27055238

Variant Present in the following documents:

• pone.0152748.pdf

View BVdb publication page

---

Characterization of the UGA-recoding and SECIS-binding activities of SECIS-binding protein 2.

Rna Biology

Bubenik, Jodi L JL; Miniard, Angela C AC; Driscoll, Donna M DM

Publication Date: 2014

Variant appearance in text: SBP2: R128X

PubMed Link: 25692238

Variant Present in the following documents:

• krnb-11-11-996472.pdf

View BVdb publication page

---

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: R128*

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1
• NIHMS630249-supplement-5.xlsx, sheet 1

View BVdb publication page

---

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: R128X

PubMed Link: 23275319

Variant Present in the following documents:

• Main text
• CroatMedJ_53_0535.pdf

View BVdb publication page

---

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: 382C>T

PubMed Link: 22986150

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Inherited defects of thyroid hormone metabolism.

Annales D'Endocrinologie

Dumitrescu, A M AM; Refetoff, S S

Publication Date: 2011-04

Variant appearance in text: SBP2: R128X

PubMed Link: 21511232

Variant Present in the following documents:

• Main text

View BVdb publication page

---

The syndrome of inherited partial SBP2 deficiency in humans.

Antioxidants & Redox Signaling

Dumitrescu, Alexandra M AM; Di Cosmo, Caterina C; Liao, Xiao-Hui XH; Weiss, Roy E RE; Refetoff, Samuel S

Publication Date: 2010-04-01

Variant appearance in text: SBP2: R128X

PubMed Link: 19769464

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X).

The Journal Of Clinical Endocrinology And Metabolism

Di Cosmo, Caterina C; McLellan, Neil N; Liao, Xiao-Hui XH; Khanna, Kum Kum KK; Weiss, Roy E RE; Papp, Laura L; Refetoff, Samuel S

Publication Date: 2009-10

Variant appearance in text: SBP2: R128X

PubMed Link: 19602558

Variant Present in the following documents:

• Main text

View BVdb publication page

---