Dang H, Schiebel E
Open Biol. 2022; 12(10):220229.
PMID: 36285440
PMC: 9597181.
DOI: 10.1098/rsob.220229.
Allen G, Dhanda A, Julian L
Methods Mol Biol. 2022; 2515:319-342.
PMID: 35776361
DOI: 10.1007/978-1-0716-2409-8_20.
Zaqout S, Kaindl A
Front Cell Dev Biol. 2022; 9:784700.
PMID: 35111754
PMC: 8802810.
DOI: 10.3389/fcell.2021.784700.
Phan T, Holland A
Genes Dev. 2021; 35(23-24):1551-1578.
PMID: 34862179
PMC: 8653793.
DOI: 10.1101/gad.348866.121.
Iegiani G, Di Cunto F, Pallavicini G
Cell Death Dis. 2021; 12(11):956.
PMID: 34663805
PMC: 8523548.
DOI: 10.1038/s41419-021-04259-6.
Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.
Duerinckx S, Desir J, Perazzolo C, Badoer C, Jacquemin V, Soblet J
Mol Genet Genomic Med. 2021; 9(9):e1768.
PMID: 34402213
PMC: 8457702.
DOI: 10.1002/mgg3.1768.
Dissecting the Genetic and Etiological Causes of Primary Microcephaly.
Jean F, Stuart A, Tarailo-Graovac M
Front Neurol. 2020; 11:570830.
PMID: 33178111
PMC: 7593518.
DOI: 10.3389/fneur.2020.570830.
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly.
Wang L, Li Z, Sievert D, Smith D, Mendes M, Chen D
Nat Commun. 2020; 11(1):4038.
PMID: 32788587
PMC: 7424529.
DOI: 10.1038/s41467-020-17454-4.
The journey of Zika to the developing brain.
Rombi F, Bayliss R, Tuplin A, Yeoh S
Mol Biol Rep. 2020; 47(4):3097-3115.
PMID: 32128708
DOI: 10.1007/s11033-020-05349-y.
The Mitotic Apparatus and Kinetochores in Microcephaly and Neurodevelopmental Diseases.
Degrassi F, Damizia M, Lavia P
Cells. 2019; 9(1).
PMID: 31878213
PMC: 7016623.
DOI: 10.3390/cells9010049.
Effect of KNL1 on the proliferation and apoptosis of colorectal cancer cells.
Bai T, Zhao Y, Liu Y, Cai B, Dong N, Li B
Technol Cancer Res Treat. 2019; 18:1533033819858668.
PMID: 31315522
PMC: 6637841.
DOI: 10.1177/1533033819858668.
Microcephaly Modeling of Kinetochore Mutation Reveals a Brain-Specific Phenotype.
Omer Javed A, Li Y, Muffat J, Su K, Cohen M, Lungjangwa T
Cell Rep. 2018; 25(2):368-382.e5.
PMID: 30304678
PMC: 6392048.
DOI: 10.1016/j.celrep.2018.09.032.
Whole exome sequencing identifies a novel homozygous frameshift mutation in the ASPM gene, which causes microcephaly 5, primary, autosomal recessive.
Bhargav D, Sreedevi N, Swapna N, Vivek S, Kovvali S
F1000Res. 2018; 6:2163.
PMID: 29375817
PMC: 5770997.
DOI: 10.12688/f1000research.12102.1.
Adaptive evolution of interleukin-3 (IL3), a gene associated with brain volume variation in general human populations.
Li M, Huang L, Li K, Huo Y, Chen C, Wang J
Hum Genet. 2016; 135(4):377-392.
PMID: 26875095
DOI: 10.1007/s00439-016-1644-z.
A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family.
Szczepanski S, Hussain M, Sur I, Altmuller J, Thiele H, Abdullah U
Hum Genet. 2015; 135(2):157-70.
PMID: 26621532
DOI: 10.1007/s00439-015-1619-5.
Targeted Knockdown of the Kinetochore Protein D40/Knl-1 Inhibits Human Cancer in a p53 Status-Independent Manner.
Urata Y, Takeshita F, Tanaka H, Ochiya T, Takimoto M
Sci Rep. 2015; 5:13676.
PMID: 26348410
PMC: 4562263.
DOI: 10.1038/srep13676.
MCPH1: a window into brain development and evolution.
Pulvers J, Journiac N, Arai Y, Nardelli J
Front Cell Neurosci. 2015; 9:92.
PMID: 25870538
PMC: 4376118.
DOI: 10.3389/fncel.2015.00092.
Molecular and cellular basis of autosomal recessive primary microcephaly.
Barbelanne M, Tsang W
Biomed Res Int. 2014; 2014:547986.
PMID: 25548773
PMC: 4274849.
DOI: 10.1155/2014/547986.
The diverse genetic landscape of neurodevelopmental disorders.
Hu W, Chahrour M, Walsh C
Annu Rev Genomics Hum Genet. 2014; 15:195-213.
PMID: 25184530
PMC: 10591257.
DOI: 10.1146/annurev-genom-090413-025600.
Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.
Mirzaa G, Vitre B, Carpenter G, Abramowicz I, Gleeson J, Paciorkowski A
Hum Genet. 2014; 133(8):1023-39.
PMID: 24748105
PMC: 4415612.
DOI: 10.1007/s00439-014-1443-3.