Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models-Reference-Cited by-同舟云学术

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models

Published:2023-03-03 Issue:7 Volume:68 Page:469-475
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Batool Tahira,Irshad Saba,Riaz Muhammad,Mahmood Baig Shahid,Nuernberg Peter,Hussain Muhammad Sajid^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-023-01132-6.pdf

Reference27 articles.

1. Jayaraman D, Bae B-I, Walsh CA. The genetics of primary microcephaly. Annu Rev Genom Hum Genet. 2018;19:177–200.

2. Woods CG, Bond J, Enard W. Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings. Am J Hum Genet. 2005;76:717–28.

3. Woods CG. and Parker A. Investigating microcephaly. Archives of Disease in Childhood. 2013;98:707–13.

4. Qvist P, Huertas P, Jimeno S, Nyegaard M, Hassan MJ, Jackson SP, et al. CtIP mutations cause Seckel and Jawad syndromes. PLoS Genet. 2011;7:e1002310.

5. Liu F, Lee W-H. CtIP activates its own and cyclin D1 promoters via the E2F/RB pathway during G1/S progression. Mol Cell Biol. 2006;26:3124–34.

Cited by 4 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Clinical genomics expands the link between erroneous cell division, primary microcephaly and intellectual disability;Neurogenetics;2024-05-25

2. Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant in RTTN Gene: A Seckel Syndrome Case Report;Children;2023-06-08

3. A commentary on “Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models”;Journal of Human Genetics;2023-06-01

4. Enhanced Multistress Tolerance of <i>Saccharomyces Cerevisiae</i> Through the Sugar Transporter-Like Protein Stl1 <sup>F427L Mutation in the Presence of Glycerol</sup>;2023