Results 21 to 30 of about 3,299,410 (331)
White matter involvement in a family with a novel PDGFB mutation [PDF]
Neurology Genetics, 2016 Primary familial brain calcification (PFBC) (formerly idiopathic basal ganglia calcification; Fahr disease) is an autosomal dominant cerebral microvascular calcifying disorder with variable clinical and imaging features.(1) Four causative genes have been identified: SLC20A2,(2) PDGFRB,(3) PDGFB,(4) and XPR1.(5).
BIANCHERI, ROBERTA +9 more
openaire +4 more sources
Drosophila melanogaster White Mutant w1118 Undergo Retinal Degeneration
Frontiers in Neuroscience, 2018 Key scientific discoveries have resulted from genetic studies of Drosophila melanogaster, using a multitude of transgenic fly strains, the majority of which are constructed in a genetic background containing mutations in the white gene.
María José Ferreiro +8 more
doaj +1 more source
Frontiers in Fungal Biology, 2022 Aspergillus fumigatus is a potentially deadly opportunistic human pathogen. A. fumigatus has evolved a variety of mechanisms to evade detection by the immune system. For example, the conidium surface is covered in a layer of 1,8-dihydroxynaphthalene (DHN)
John G. Gibbons +8 more
doaj +1 more source
Scientific Reports, 2022 Sable (Martes zibellina) and American mink (Neogale vison) are valuable species characterized by a variety of coat colour produced on fur farms. Black crystal fur phenotype is Mendelian codominant trait: heterozygous animals (C r / +) have white guard ...
Andrey D. Manakhov +5 more
doaj +1 more source
White pupae phenotype of tephritids is caused by parallel mutations of a MFS transporter [PDF]
Nature Communications, 2021 AbstractMass releases of sterilized male insects, in the frame of sterile insect technique programs, have helped suppress insect pest populations since the 1950s. In the major horticultural pests Bactrocera dorsalis, Ceratitis capitata, and Zeugodacus cucurbitae, a key phenotype white pupae (wp) has been used for decades to selectively remove females ...
Carlos E Cáceres-Barrios +26 more
openaire +6 more sources
Italian Journal of Animal Science, 2020 The Italian Asinara donkey and the White Austro-Hungarian Baroque donkey share an identical coat colour phenotype which is characterised by unpigmented skin, white hair, white hooves and blue eyes.
Gertrud Grilz-Seger +5 more
doaj +1 more source
A Frameshift Mutation in KIT is Associated with White Spotting in the Arabian Camel [PDF]
Genes, 2017 While the typical Arabian camel is characterized by a single colored coat, there are rare populations with white spotting patterns. White spotting coat patterns are found in virtually all domesticated species, but are rare in wild species. Theories suggest that white spotting is linked to the domestication process, and is occasionally associated with ...
Heather Holl +8 more
openaire +3 more sources
A highly mutable GST is essential for bract colouration in Euphorbia pulcherrima Willd. Ex Klotsch
BMC Genomics, 2021 Background Mutation breeding is an extraordinary tool in plant breeding to increase the genetic variability, where mutations in anthocyanin biosynthesis are targets to generate distinctive phenotypes in ornamental species.
Vinicius Vilperte +2 more
doaj +1 more source
Neurocase, 2018 White matter hyperintensities (WMH) are often seen on MRI brain scans in frontotemporal dementia (FTD) due to progranulin (GRN) mutations, but their pathological correlates are unknown.
I. Woollacott +14 more
semanticscholar +1 more source
Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy
Frontiers in Neurology, 2022 The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the ...
Guilan Chen +10 more
doaj +1 more source