The "silver" Japanese quail and the
Background The MITF (microphthalmia-associated transcription factor) gene has been investigated in mice and various vertebrates but its variations and associated effects have not yet been explored much in birds.
Ito Shin'ichi+5 more
doaj +5 more sources
Peripheral Innate Immune Activation Correlates With Disease Severity in GRN Haploinsufficiency [PDF]
Objective: To investigate associations between peripheral innate immune activation and frontotemporal lobar degeneration (FTLD) in progranulin gene (GRN) haploinsufficiency.Methods: In this cross-sectional study, ELISA was used to measure six markers of ...
Peter A. Ljubenkov+18 more
doaj +5 more sources
Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain [PDF]
Differential splicing of COL4A5 mRNA in kidney and white blood cells: A complex mutation in the COL4A5 gene of an Alport patient deletes the NC1 domain.
Cassiman, Jean-Jacques+5 more
core +2 more sources
A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. [PDF]
A dominantly inherited syndrome associated with hypopigmentation, heterochromia irides, colobomatous eyes and bilateral hearing loss has been ascertained in Fleckvieh cattle (German White Fleckvieh syndrome).
Ute Philipp+7 more
doaj +2 more sources
Stabilization of hen egg white lysozyme by a cavity‐filling mutation [PDF]
AbstractStabilization of a protein using cavity‐filling strategy has hardly been successful because of unfavorable van der Waals contacts. We succeeded in stabilizing lysozymes by cavity‐filling mutations. The mutations were checked by a simple energy minimization in advance.
Tadahiro Ohmura+4 more
openalex +4 more sources
Mutation-Based White Box Testing of Deep Neural Networks
Deep Neural Networks (DNNs) are used in many critical areas, such as autonomous vehicles, generative AI systems, etc. Therefore, testing DNNs is vital, especially for models used in critical areas.
Gokhan Cetiner, Ugur Yayan, Ahmet Yazici
doaj +2 more sources
Association analysis of melanophilin (MLPH) gene expression and polymorphism with plumage color in quail [PDF]
We explore the relationship between the melanophilin (MLPH) gene and quail plumage color and provide a reference for subsequent quail plumage color breeding.
Z. Yuan+11 more
doaj +1 more source
Production of mutations in the white-spore strain
S. S. Wang+2 more
openalex +4 more sources
The causal mutation leading to sweetness in modern white lupin cultivars [PDF]
Lupins are high-protein crops that are rapidly gaining interest as hardy alternatives to soybean; however, they accumulate antinutritional alkaloids of the quinolizidine type (QAs). Lupin domestication was enabled by the discovery of genetic loci conferring low QA levels (sweetness), but the precise identity of the underlying genes remains
Davide Mancinotti+16 more
openaire +5 more sources
Predicting Isocitrate Dehydrogenase Mutation Status in Glioma Using Structural Brain Networks and Graph Neural Networks [PDF]
Glioma is a common malignant brain tumor with distinct survival among patients. The isocitrate dehydrogenase (IDH) gene mutation provides critical diagnostic and prognostic value for glioma.
Chen, Xi+5 more
core +7 more sources