SECISBP2 c.358C>T ;(p.R120*)

Variant ID: 9-91940517-C-T

NM_024077.3(SECISBP2):c.358C>T;(p.R120*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: 358C>T
PubMed Link: 35126314
Variant Present in the following documents:
  • Main text
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: 358C>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: 358C>T
PubMed Link: 34884733
Variant Present in the following documents:
  • Main text
  • ijms-22-12927.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: 358C>T
PubMed Link: 32084277
Variant Present in the following documents:
  • Main text
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: R120X
PubMed Link: 31453320
Variant Present in the following documents:
  • Main text
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: R120X
PubMed Link: 31350336
Variant Present in the following documents:
  • Main text
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: R120X
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: 358C>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: R120X
PubMed Link: 21511232
Variant Present in the following documents:
  • Main text
View BVdb publication page