Elucidating the Structural Impacts of Protein InDels

Autor: Muneeba Jilani, Alistair Turcan, Nurit Haspel, Filip Jagodzinski

Publikováno v: Biomolecules, Vol 12, Iss 10, p 1435 (2022)

The effects of amino acid insertions and deletions (InDels) remain a rather under-explored area of structural biology. These variations oftentimes are the cause of numerous disease phenotypes. In spite of this, research to study InDels and their stru

Externí odkaz: https://doaj.org/article/cef264d1675744409594eda8f2c2a673

The Combinational Use of CRISPR/Cas9 and Targeted Toxin Technology Enables Efficient Isolation of Bi-Allelic Knockout Non-Human Mammalian Clones

Autor: Satoshi Watanabe, Takayuki Sakurai, Shingo Nakamura, Kazuchika Miyoshi, Masahiro Sato

Publikováno v: International Journal of Molecular Sciences, Vol 19, Iss 4, p 1075 (2018)

Recent advances in genome editing systems such as clustered regularly interspaced short palindromic repeats/CRISPR-associated protein-9 nuclease (CRISPR/Cas9) have facilitated genomic modification in mammalian cells. However, most systems employ tran

Externí odkaz: https://doaj.org/article/25912a20afc94bda9ed612b743d42585

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Autor: Chaofan Zhang, Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood, Patricia Celestino Soper, Ariadne Ramalho de Lima, Bárbara Merfort Ferreira, Zeynep Coban-Akdemir, Janson White, Deborah Shears, Fraser Robert Thomson, Sarah Louise Douglas, Andrew Wainwright, Kathryn Bailey, Paul Wordsworth, Mike Oldridge, Tracy Lester, Alistair D. Calder, Katja Dumic, Siddharth Banka, Dian Donnai, Shalini N. Jhangiani, Lorraine Potocki, Wendy K. Chung, Sara Mora, Hope Northrup, Myla Ashfaq, Jill A. Rosenfeld, Kati Mason, Lynda C. Pollack, Allyn McConkie-Rosell, Wei Kelly, Marie McDonald, Natalie S. Hauser, Peter Leahy, Cynthia M. Powell, Raquel Boy, Rachel Sayuri Honjo, Fernando Kok, Lucia R. Martelli, Vicente Odone Filho, null Genomics England Research Consortium, Donna M. Muzny, Richard A. Gibbs, Jennifer E. Posey, Pengfei Liu, James R. Lupski, V. Reid Sutton, Claudia M.B. Carvalho

Publikováno v: Human Genetics and Genomics Advances
HGG Advances, Vol 3, Iss 1, Pp 100074-(2022)
Zhang, C, Jolly, A, Shayota, B J, Mazzeu, J F, Du, H, Dawood, M, Soper, P C, Ramalho de Lima, A, Ferreira, B M, Coban-Akdemir, Z, White, J, Shears, D, Thomson, F R, Wainwright, A, Wordsworth, P, Oldridge, M, Lester, T, Calder, A D, Dumic, K, Banka, S, Donnai, D, Jhangiani, S N, Potocki, L, Chung, W K, Mora, S, Northrup, H, Ashfaq, M, Rosenfeld, J A, Mason, K, Pollack, L C, McConkie-Rosell, A, Kelly, W, McDonald, M, Hauser, N S, Leahy, P, Powell, C M, Boy, R, Honjo, R S, Kok, F, Martelli, L R, Filho, V O, Genomics England Research Consortium, Muzny, D M, Gibbs, R A, Posey, J E, Liu, P, Lupski, J R & Sutton, V R 2022, ' Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome : WNT signaling perturbation and phenotypic variability ', Human Genetics and Genomics Advances, vol. 3, no. 1, 100074 . https://doi.org/10.1016/j.xhgg.2021.100074

Summary Robinow syndrome (RS) is a genetically heterogeneous disorder with six genes that converge on the WNT/planar cell polarity (PCP) signaling pathway implicated (DVL1, DVL3, FZD2, NXN, ROR2, and WNT5A). RS is characterized by skeletal dysplasia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e77b81a3eca2f20efcc27c10f904b73
https://pubmed.ncbi.nlm.nih.gov/35047859

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Direct Injection of CRISPR/Cas9-Related mRNA into Cytoplasm of Parthenogenetically Activated Porcine Oocytes Causes Frequent Mosaicism for Indel Mutations

Autor: Miyu Koriyama, Issei Saitoh, Masahiro Sato, Emi Inada, Takayuki Sakurai, Satoshi Watanabe, Masato Ohtsuka, Kazuchika Miyoshi, Shingo Nakamura

Publikováno v: International Journal of Molecular Sciences
International Journal of Molecular Sciences, Vol 16, Iss 8, Pp 17838-17856 (2015)

Some reports demonstrated successful genome editing in pigs by one-step zygote microinjection of mRNA of CRISPR/Cas9-related components. Given the relatively long gestation periods and the high cost of housing, the establishment of a single blastocys

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::befaf7ad3fe47d9a4f677f2d4543bd0c
http://europepmc.org/articles/PMC4581225