Results 11 to 20 of about 736,700 (337)

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   +7 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   +3 more sources

MAP1B mutations cause intellectual disability and extensive white matter deficit [PDF]

Nature Communications, 2018
AbstractDiscovery of coding variants in genes that confer risk of neurodevelopmental disorders is an important step towards understanding the pathophysiology of these disorders. Whole-genome sequencing of 31,463 Icelanders uncovers a frameshift variant (E712KfsTer10) in microtubule-associated protein 1B (MAP1B) that associates with ID/low IQ in a large
G. Bragi Walters, Ómar Gústafsson, Garðar Sveinbjörnsson, Valgerdur Kristin Eiriksdottir, Arna B. Agustsdottir, Guðrún A. Jónsdóttir, Stacy Steinberg, Arni F. Gunnarsson, Magnus I. Magnusson, Unnur Unnsteinsdóttir, Amy L. Lee, Aðalbjörg Jónasdóttir, Ásgeir Sigurðsson, Áslaug Jónasdóttir, Ástrós Skúladóttir, Lina Jönsson, Muhammad Sulaman Nawaz, Patrick Sulem, Mike Frigge, Andrés Ingason, Áskell Löve, Gudmundur L. Norddhal, Mark Zervas, Daníel F. Guðbjartsson, Magnús Ö. Úlfarsson, Evald Sæmundsen, Hreinn Stefánsson, Kāri Stefánsson   +27 more
openalex   +5 more sources

White-matter abnormalities in presymptomaticGRNandC9orf72mutation carriers [PDF]

Brain Communications, 2022
AbstractA large proportion of familial frontotemporal dementia is caused by TAR DNA-binding protein 43 (transactive response DNA-binding protein 43 kDa) proteinopathies. Accordingly, carriers of autosomal dominant mutations in the genes associated with TAR DNA-binding protein 43 aggregation, such as Chromosome 9 open reading frame 72 (C9orf72) or ...
Hyunwoo Lee, Ian R. Mackenzie, Mirza Faisal Beg, Karteek Popuri, Rosa Rademakers, Dana Wittenberg, Ging‐Yuek Robin Hsiung   +6 more
openalex   +4 more sources

Association Analysis Between Polymorphism of Gonadotrophin Releasing Hormone Genes and Growth Traits of Quail (Coturnix Coturnix) [PDF]

Brazilian Journal of Poultry Science, 2021
This study investigated SNP mutation sites of Gonadotrophin releasing hormone (GnRH) gene in China yellow quail, Beijing white quail and Korean quail through PCR amplification and DNA sequencing technologies.
J Bai, ZH Dong, Y Lei, YB Yang, XP Jia, JY Li   +5 more
doaj   +1 more source

Molecular Marker-Assisted Selection of Green Shank and White Feather Traits in Chickens

Guangdong nongye kexue, 2023
【Objective】The shank and feather color, as the characteristic traits of breeds, which remains an important selective trait in the breeding process of new varieties.
Xuewen CHAI, Jishang GONG, Fangfang CUI, Zhaofeng KANG, Yanping WU, Min ZHOU, Xuemei SUN, Jiguo XU   +7 more
doaj   +1 more source

Control of astrocyte progenitor specification, migration and maturation by Nkx6.1 homeodomain transcription factor. [PDF]

, 2014
Although astrocytes are the most abundant cell type in the central nervous system (CNS), little is known about their molecular specification and differentiation.
Chen, Yidan, Hu, Xuemei, Huang, Hao, Qiu, Mengsheng, Sander, Maike, Teng, Peng, Xie, Binghua, Zhang, Zunyi, Zhao, Xiaofeng, Zheng, Kang, Zhu, Qiang   +10 more
core   +6 more sources

Molecular characterization of mutations in white-flowered torenia plants [PDF]

BMC Plant Biology, 2014
Torenia (Torenia fournieri Lind.) is a model plant increasingly exploited in studies in various disciplines, including plant engineering, biochemistry, physiology, and ecology. Additionally, cultivars with different flower colors have been bred and made commercially available.
Nishihara, Masahiro, Yamada, Eri, Saito, Misa, Fujita, Kohei, Takahashi, Hideyuki, Nakatsuka, Takashi   +5 more
openaire   +2 more sources

CT and MRI findings in infantile vanishing white matter

Radiology Case Reports, 2021
Infantile vanishing white matter disease is an uncommon cause of developmental delay and seizures in children. Presented here is a case of vanishing white matter disease diagnosed at 6 months of age.
Kyle Robbins, BS, Patrick Arraj, BS, Lauren Dengle Sanchez, MD, Nikhil Godiyal, Daniel L. Veltkamp, MD, Cory M. Pfeifer, MD, MPH   +5 more
doaj   +1 more source

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

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   +1 more source