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A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling
Published 2015-04-01“…This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1). …”
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KIT Mutation Associated with Depigmented Patches Regression and Multiple Café-au-lait Macules Development in a Patient with Piebaldism: A Case Report
Published 2024-03-01“…The likely pathogenic, heterozygous KIT c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of KIT mutations for piebaldism etiology and presentation.Keywords: genotype, phenotype, melanocyte, autosomal, rare disease…”
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Whole-Genome Sequencing for Identifying Candidate Genes Related to the Special Phenotypes of the Taihu Dianzi Pigeon
Published 2024-03-01Subjects: Get full text
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Semantyc Analysis of Zoonyms Motivated by the Coloured Coat (Based on the Cow Names in Polish and Ukrainian)
Published 2016-04-01Subjects: Get full text
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Transpositional features of the word ala «potty, spotted, piebald» (about the color of animals); «motley, multi-colored; spotted»; «light» in the Turkic languages (based on Bashkir and Karachay-Balkarian languages)
Published 2020-12-01“…The article is devoted to a comprehensive study of the lexico-semantic, derivational, word-composition, inflectional features of the attributive component of descriptive phrases, the indicator of variegated color designation, the term-forming unit of the word ala «potty, spotted, piebald» (about the color of animals) (Bashkir); «motley, multicolored, spotted; light» (Karachay-Balkarian) in Bashkir and Karachay-Balkarian languages, participating in the categorization of mixed segments of the lingua-color space. …”
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Anomalous Coloration of Indo-Pacific Humpback Dolphins off Southern China
Published 2023-02-01Subjects: Get full text
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Você conhece esta síndrome? Do you know this syndrome?
Published 2007-04-01Subjects: Get full text
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A genome-wide association study of deafness in three canine breeds.
Published 2020-01-01“…Congenital deafness in the domestic dog is usually related to the presence of white pigmentation, which is controlled primarily by the piebald locus on chromosome 20 and also by merle on chromosome 10. …”
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Characteristics and controlling factors of beach-controlled karst reservoirs in Cambrian Longwangmiao Formation, Moxi-Gaoshiti area, Sichuan Basin, NW China
Published 2014-12-01“…The reservoirs can be subdivided into four types according to the different types of reservoir space and their combination with the “piebald” karst system: pinhole, “piebald” pinhole, cave, and “piebald” cave. …”
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On the role of TFEC in reptilian coloration
Published 2024-02-01“…Here, I focus on the role of the TFEC transcription factor in snake and lizard coloration based on a study on wild-type and piebald ball pythons. Genomic mapping previously identified a TFEC mutation linked to the piebald ball python phenotype. …”
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Using regulatory and epistatic networks to extend the findings of a genome scan: identifying the gene drivers of pigmentation in merino sheep.
Published 2011-01-01“…Extending genome wide association analysis by the inclusion of gene expression data may assist in the dissection of complex traits. We examined piebald, a pigmentation phenotype in both human and Merino sheep, by analysing multiple data types using a systems approach. …”
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Relatedness Among Three Native Geese in Erbil Governorate Using Hematological and Molecular Methods
Published 2019-04-01“…Overall genetic distance among native geese arrived 64.122 and phylogenetic dendrograms showed that 3 clusters, the first cluster content only white geese (Male and Female) breed, the second one cluster is included piebald geese breed (Male and female) and the third one was including gray geese (Male and female) breed. …”
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Are dogs with congenital hearing and/or vision impairments so different from sensory normal dogs? A survey of demographics, morphology, health, behaviour, communication, and activi...
Published 2020-01-01“…The births of domestic dogs with pigment deletion and associated congenital hearing and/or vision impairments are increasing, as a result of mutations of certain genes expressing popular coat colour patterns (Merle, piebald, Irish spotting). The future of these dogs is often pessimistic (early euthanasia or placement in rescues/fosters, lack of interactions and activities for adults). …”
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Dar dėl<em> Kárvaičių</em> vardo kilmės
Published 2011-12-01“…<em>šárvas, šìrvas/šir̃vas</em> ‘gray’ (by postulating an interchange of consonants *<em>k</em> : *<em>k’</em>), on the other hand, it can be compared with Lith. <em>kéršas</em> ‘piebald, dapple’, OPruss. <em>kirsnan</em> (swarcz) E 460, Slav. …”
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Names of horse coat colors in the Bashkir language: Genesis, development, and semantics
Published 2021-02-01“…Based on the results of the analysis, the following color names were identified as the most common ones: qola ‘dun’, saptar ‘skewbald’, burtä ‘dark bay’, turï ‘bay’, burїl ‘roan’, kir ‘bay with yellowish markings’, buð/kük ‘gray’, ala ‘piebald’, sïbar ‘motley’. The above color names are mainly independent lexemes meaning exclusively the colors of horse coats (except for buð, kük, ala, sïbar). …”
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The Artistic Universe of Chingiz Aytmatov: From Bilinguality to Transculture
Published 2024-03-01“…, “The White Steamer”, “The Piebald Dog Running by the Edge of the Sea” and ending with his “epic” novel, reveals the artistic evolution of the writer: from bilingualism to transculture. …”
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Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Using Genome Edited Mouse Models
Published 2020-03-01“…We found that the splice mutation homozygote is lethal and the heterozygous mice have a piebald coat. Slightly increased expression of KIT in KIT Dup/+mice did not confer the patched phenotype and had no obvious impact on coat color. …”
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