Results 11 to 20 of about 115,560 (292)
DEFECTIVE ENDOSPERM-D1 (Dee-D1) is crucial for endosperm development in hexaploid wheat
Natalia Tikhenko et al. investigate the genetic contribution of the wheat chromosome 1D to its development and evolution. They find a novel locus, DEFECTIVE ENDOSPERM-D1, on the long arm of 1D that is required for normal endosperm development as its ...
Natalia Tikhenko +13 more
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C14ORF39/SIX6OS1 is a constituent of the synaptonemal complex and is essential for mouse fertility
The synaptonemal complex is a meiosis-specific proteinaceous structure that supports homologous chromosome pairs during meiosis. Here, the authors show that SIX6OS1 (of previously unknown function) is part of the synaptonemal complex central element and ...
Laura Gómez-H +12 more
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Post-translational protein modification such as phosphorylation and ubiquitination are critical during mitosis to ensure proper timing and progression of chromosome segregation.
Lan Lin, Li Chen, Phong T. Tran
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Ultrastructural analysis in yeast reveals a meiosis-specific actin-containing nuclear bundle
Using freeze-substitution electron microscopy, Takagi et al identify nuclear actin-containing bundles within meiotic yeast cells. These bundles are absent in stages other than meiosis I and in spo11 mutants defective in homologous recombination, allowing
Tomoko Takagi +2 more
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Recently recognized chromosomal defects of clinical importance [PDF]
SummaryWe review those conditions which have recently been recognized to be associated with small, sometimes difficult to detect, chromosomal abnormalities. These include the Prader-Willi syndrome and X-linked mental retardation.
M, Pembrey, M, Baraitser
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The asymmetry of female meiosis reduces the frequency of inheritance of unpaired chromosomes
Trisomy, the presence of a third copy of one chromosome, is deleterious and results in inviable or defective progeny if passed through the germ line.
Daniel B Cortes +3 more
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Loss of Cdc13 causes genome instability by a deficiency in replication-dependent telomere capping.
In budding yeast, Cdc13, Stn1, and Ten1 form the telomere-binding heterotrimer CST complex. Here we investigate the role of Cdc13/CST in maintaining genome stability by using a Chr VII disome system that can generate recombinants, chromosome loss, and ...
Rachel E Langston +4 more
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Choroid plexus cysts and chromosomal defects
Abstract During a 4-year period, 83 pregnant women with fetal choroid plexus cysts were investigated in our unit. Abnormal karyotypes were found in 20 fetuses, including trisomy 18 (n = 16), trisomy 13 (n = 1), triploidy (n = 1) and translocation Down's syndrome (n = 2).
J G, Thorpe-Beeston +2 more
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For appropriate chromosome segregation, kinetochores on sister chromatids have to attach to microtubules from opposite spindle poles (bi-orientation).
Kinue Kuniyasu +2 more
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A novel MCPH1 isoform complements the defective chromosome condensation of human MCPH1-deficient cells. [PDF]
Biallelic mutations in MCPH1 cause primary microcephaly (MCPH) with the cellular phenotype of defective chromosome condensation. MCPH1 encodes a multifunctional protein that notably is involved in brain development, regulation of chromosome condensation,
Ioannis Gavvovidis +8 more
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