Results 1 to 10 of about 3,299,410 (331)

Functional Analysis of KIT Gene Structural Mutations Causing the Porcine Dominant White Phenotype Using Genome Edited Mouse Models [PDF]

Frontiers in Genetics, 2020
The dominant white phenotype in pigs is thought to be mainly due to a structural mutation in the KIT gene, a splice mutation (G > A) at the first base in intron 17 which leads to the deletion of exon 17 in the mature KIT mRNA. However, this hypothesis
Guanjie Sun, Xinyu Liang, Ke Qin, Yufeng Qin, Xuan Shi, Peiqing Cong, Delin Mo, Xiaohong Liu, Yaosheng Chen, Zuyong He   +9 more
doaj   +3 more sources

Mutation-Based White Box Testing of Deep Neural Networks

IEEE Access
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   +4 more sources

A retroviral insertion in the tyrosinase (TYR) gene is associated with the recessive white plumage color in the Yeonsan Ogye chicken

Journal of Animal Science and Technology, 2021
The recessive white (locus c) phenotype observed in chickens is associated with three alleles (recessive white c, albino ca, and red-eyed white cre) and causative mutations in ...
Eunjin Cho, Minjun Kim, Prabuddha Manjula, Sung Hyun Cho, Dongwon Seo, Seung-Sook Lee, Jun Heon Lee   +6 more
doaj   +2 more sources

Complete association between a retroviral insertion in the tyrosinase gene and the recessive white mutation in chickens

BMC Genomics, 2006
Background In chickens, three mutant alleles have been reported at the C locus, including the albino mutation, and the recessive white mutation, which is characterized by white plumage and pigmented eyes.
Oulmouden Ahmad, Gourichon David, Coquerelle Gérard, Coville Jean-Luc, Chang Chung-Ming, Tixier-Boichard Michèle   +5 more
doaj   +2 more sources

C34T mutation of theAMPD1gene in an elite white runner: Figure 1 [PDF]

BMJ Case Reports, 2006
The case is reported of an elite, male, white endurance runner (28 years of age), who is one of the best non-African runners in the world despite carrying the C34T mutation in the gene (AMPD1) that encodes the skeletal muscle specific isoform of AMP deaminase, an enzyme important in muscle metabolism.
Alejandro Lucı́a, Miguel A. Martı́n, Jonathan Esteve-Lanao, Alejandro F. San Juan, Carlos Rubio-Terrés, Jesús Oliván, Joaquı́n Arenas   +6 more
openalex   +11 more sources

Mutations in MITF and PAX3 cause "splashed white" and other white spotting phenotypes in horses. [PDF]

PLoS Genetics, 2012
During fetal development neural-crest-derived melanoblasts migrate across the entire body surface and differentiate into melanocytes, the pigment-producing cells. Alterations in this precisely regulated process can lead to white spotting patterns.
Regula Hauswirth, Bianca Haase, Marlis Blatter, Samantha A Brooks, Dominik Burger, Cord Drögemüller, Vincent Gerber, Diana Henke, Jozef Janda, Rony Jude, K Gary Magdesian, Jacqueline M Matthews, Pierre-André Poncet, Vilhjálmur Svansson, Teruaki Tozaki, Lorna Wilkinson-White, M Cecilia T Penedo, Stefan Rieder, Tosso Leeb   +18 more
doaj   +8 more sources

BRAF, KIT, and NRAS Mutations of Acral Melanoma in White Patients.

American Journal of Clinical Pathology, 2020
OBJECTIVES Malignant acral melanoma (AM) is relatively infrequent in white patients. Molecular investigations have returned variable results regarding the mutational pattern. We sought to describe the mutation profile and clinicopathologic features of AM.
E. Dika, Giulia Veronesi, A. Altimari, Mattia Riefolo, G. Ravaioli, B. Piraccini, M. Lambertini, E. Campione, E. Gruppioni, M. Fiorentino, B. Melotti, M. Ferracin, A. Patrizi   +12 more
semanticscholar   +5 more sources

A MITF mutation associated with a dominant white phenotype and bilateral deafness in German Fleckvieh cattle. [PDF]

PLoS ONE, 2011
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, Bettina Lupp, Stefanie Mömke, Veronika Stein, Andrea Tipold, Johanna Corinna Eule, Jürgen Rehage, Ottmar Distl   +7 more
doaj   +2 more sources

Association analysis of melanophilin (MLPH) gene expression and polymorphism with plumage color in quail [PDF]

Archives Animal Breeding, 2023
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, X. Zhang, X. Zhang, Y. Pang, Y. Pang, Y. Qi, Y. Qi, Q. Wang, Y. Hu, Y. Zhao, S. Ren, L. Huo   +11 more
doaj   +1 more source

Production of mutations in the white-spore strain

Fungal Genetics Reports, 1971
S. S. Wang, Jane M. Magill, Robert L. Phillips   +2 more
openalex   +4 more sources