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Xu, C. HIVEP2-Related Intellectual Disability. Encyclopedia. Available online: https://encyclopedia.pub/entry/4071 (accessed on 21 September 2026).
Xu C. HIVEP2-Related Intellectual Disability. Encyclopedia. Available at: https://encyclopedia.pub/entry/4071. Accessed September 21, 2026.
Xu, Camila. "HIVEP2-Related Intellectual Disability" Encyclopedia, https://encyclopedia.pub/entry/4071 (accessed September 21, 2026).
Xu, C. (2020, December 23). HIVEP2-Related Intellectual Disability. In Encyclopedia. https://encyclopedia.pub/entry/4071
Xu, Camila. "HIVEP2-Related Intellectual Disability." Encyclopedia. Web. 23 December, 2020.
HIVEP2-Related Intellectual Disability
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hivep2-related-intellectual-disability

HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features).

genetic conditions

References

  1. Dörflinger U, Pscherer A, Moser M, Rümmele P, Schüle R, Buettner R. Activationof somatostatin receptor II expression by transcription factors MIBP1 and SEF-2in the murine brain. Mol Cell Biol. 1999 May;19(5):3736-47.
  2. Fukuda S, Yamasaki Y, Iwaki T, Kawasaki H, Akieda S, Fukuchi N, Tahira T,Hayashi K. Characterization of the biological functions of a transcriptionfactor, c-myc intron binding protein 1 (MIBP1). J Biochem. 2002Mar;131(3):349-57.
  3. Iwashita Y, Fukuchi N, Waki M, Hayashi K, Tahira T. Genome-wide repression of NF-κB target genes by transcription factor MIBP1 and its modulation by O-linkedβ-N-acetylglucosamine (O-GlcNAc) transferase. J Biol Chem. 2012 Mar23;287(13):9887-900. doi: 10.1074/jbc.M111.298521.
  4. Srivastava S, Engels H, Schanze I, Cremer K, Wieland T, Menzel M, Schubach M, Biskup S, Kreiß M, Endele S, Strom TM, Wieczorek D, Zenker M, Gupta S, Cohen J,Zink AM, Naidu S. Loss-of-function variants in HIVEP2 are a cause of intellectualdisability. Eur J Hum Genet. 2016 Apr;24(4):556-61. doi: 10.1038/ejhg.2015.151.
  5. Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van SlegtenhorstMA, Monaghan KG, Henderson LB, Chung WK. Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.Neurogenetics. 2016 Jul;17(3):159-64. doi: 10.1007/s10048-016-0479-z.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 666
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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