BTK Gene

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Zhou, V. BTK Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5006 (accessed on 22 September 2026).

Zhou V. BTK Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5006. Accessed September 22, 2026.

Zhou, Vicky. "BTK Gene" Encyclopedia, https://encyclopedia.pub/entry/5006 (accessed September 22, 2026).

Zhou, V. (2020, December 24). BTK Gene. In Encyclopedia. https://encyclopedia.pub/entry/5006

Zhou, Vicky. "BTK Gene." Encyclopedia. Web. 24 December, 2020.

BTK Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/btk

Bruton tyrosine kinase

genes

References

Alatzoglou KS, Dattani MT. Genetic causes and treatment of isolated growthhormone deficiency-an update. Nat Rev Endocrinol. 2010 Oct;6(10):562-76. doi:10.1038/nrendo.2010.147. Review.
Broides A, Yang W, Conley ME. Genotype/phenotype correlations in X-linkedagammaglobulinemia. Clin Immunol. 2006 Feb-Mar;118(2-3):195-200.
Conley ME, Farmer DM, Dobbs AK, Howard V, Aiba Y, Shurtleff SA, Kurosaki T. A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease. Clin Exp Immunol. 2008 Apr;152(1):39-44. doi:10.1111/j.1365-2249.2008.03593.x.
Jyonouchi H, Geng L, Törüner GA, Vinekar K, Feng D, Fitzgerald-Bocarsly P.Monozygous twins with a microdeletion syndrome involving BTK, DDP1, and two othergenes; evidence of intact dendritic cell development and TLR responses. Eur JPediatr. 2008 Mar;167(3):317-21.
Maas A, Hendriks RW. Role of Bruton's tyrosine kinase in B cell development.Dev Immunol. 2001;8(3-4):171-81. Review.
Richter D, Conley ME, Rohrer J, Myers LA, Zahradka K, Kelecić J, Sertić J,Stavljenić-Rukavina A. A contiguous deletion syndrome of X-linkedagammaglobulinemia and sensorineural deafness. Pediatr Allergy Immunol. 2001Apr;12(2):107-11.
Sedivá A, Smith CI, Asplund AC, Hadac J, Janda A, Zeman J, Hansíková H,Dvoráková L, Mrázová L, Velbri S, Koehler C, Roesch K, Sullivan KE, Futatani T,Ochs HD. Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes. J Clin Immunol. 2007 Nov;27(6):640-6.
Smith CIE, Berglöf A. X-Linked Agammaglobulinemia. 2001 Apr 5 [updated 2016Aug 4]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K,Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University ofWashington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1453/
Väliaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-linkedagammaglobulinemia. Hum Mutat. 2006 Dec;27(12):1209-17. Review.
Wit JM, Kiess W, Mullis P. Genetic evaluation of short stature. Best Pract ResClin Endocrinol Metab. 2011 Feb;25(1):1-17. doi: 10.1016/j.beem.2010.06.007.Review.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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