Results 71 to 80 of about 66,200 (304)

Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancer

open access: yesMolecular Oncology, EarlyView.
Tumour heterogeneity and clonal evolution of metastatic salivary gland cancer were evaluated in two patients with adenoid carcinoma and one patient with myoepithelial carcinoma. Radiology‐guided autopsy enabled multi‐region sampling (total samples n = 149), followed by whole‐genome sequencing and phylogenetic reconstruction (17 tumour samples, 4–7 per ...
Gerben Lassche   +10 more
wiley   +1 more source

Low Heterozygosity and Historical Bottleneck Effect Depicted From the Genome Assembly of the Indus River Dolphin (Platanista minor)

open access: yesEcology and Evolution
The Indus River dolphin (Platanista minor) is a highly endangered freshwater dolphin endemic to the Indus River system of the Indian subcontinent. We reported a de novo assembly and characterization of the draft genome of the Indus River dolphin by using
Aamir Ibrahim   +9 more
doaj   +1 more source

Improvement of methods of creating hybrids of cabbage

open access: yesОвощи России, 2019
Relevance One of the basic directions of the cabbage crop breeding is the creation of F1 hybrids with a complex of economically valuable traits. This process is difficult and time-consuming as to get pure lines must be within 6-12 years hold inbreeding ...
Anna I. Mineykina   +4 more
doaj   +1 more source

The C‐terminal region of KIF26B is indispensable for nephron progenitor condensation and kidney formation in mice

open access: yesFEBS Open Bio, EarlyView.
KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura   +19 more
wiley   +1 more source

Homozygosity in piebald trait. [PDF]

open access: yesJournal of Medical Genetics, 1987
A severely affected child born to consanguineous parents is interpreted as being a homozygote for the dominantly inherited piebald trait. The striking phenotypic difference between the parents and the child implies intermediate inheritance of this condition, and the family also illustrates that consanguinity should not always be taken to indicate ...
M A, Hultén   +3 more
openaire   +2 more sources

Homozygosity For HLA‐B27 [PDF]

open access: yesArthritis & Rheumatism, 1977
AbstractThe effect of homozygosity for HLA‐B27 on the clinical expression of rheumatic disease was studied in two families. The 1 homozygous patient in each of two families demonstrated extraordinarily severe peripheral and axial arthritis compared to other affected heterozygous relatives.
Frank C. Arnett   +4 more
openaire   +1 more source

Genome-wide scan for runs of homozygosity identifies potential candidate genes associated with local adaptation in Valle del Belice sheep

open access: yesGenetics Selection Evolution, 2017
Because very large numbers of single nucleotide polymorphisms (SNPs) are now available throughout the genome, they are particularly suitable for the detection of genomic regions where a reduction in heterozygosity has occurred and they offer new ...
S. Mastrangelo   +6 more
semanticscholar   +1 more source

Avidin is evolutionarily conserved in fish but dispensable for development and resistance against Streptococcus agalactiae in zebrafish

open access: yesFEBS Open Bio, EarlyView.
The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti   +5 more
wiley   +1 more source

Mutant NPM1 in Acute Myeloid Leukemia Initiation and Maintenance

open access: yesAging and Cancer, EarlyView.
NPM1 mutations drive acute myeloid leukemia by acting as neomorphic transcriptional regulators that cooperate with Menin–MLL and XPO1 to sustain HOX/MEIS1 expression and block differentiation. Targeting these mutant‐specific transcriptional dependencies provides a rational therapeutic strategy for NPM1‐mutated AML.
Yanan Jiang   +3 more
wiley   +1 more source

Long runs of homozygosity are associated with Alzheimer’s disease

open access: yesTranslational Psychiatry, 2021
Long runs of homozygosity (ROH) are contiguous stretches of homozygous genotypes, which are a footprint of inbreeding and recessive inheritance. The presence of recessive loci is suggested for Alzheimer’s disease (AD); however, their search has been ...
Sonia Moreno-Grau   +45 more
doaj   +1 more source

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