Results 31 to 40 of about 3,299,410 (331)

Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes

Nature Communications, 2020
Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of the most recurrently de novo mutated genes in patients with neurodevelopmental disorders (NDDs), including autism spectrum disorder (ASD), intellectual disability and ...
Kensuke Matsumura, K. Seiriki, Shota Okada, Masashi Nagase, Shinya Ayabe, Ikuko Yamada, T. Furuse, Hirotoshi Shibuya, Y. Yasuda, H. Yamamori, M. Fujimoto, K. Nagayasu, Kana Yamamoto, Kohei Kitagawa, Hiroki Miura, N. Gotoda-Nishimura, Hisato Igarashi, Misuzu Hayashida, Masayuki Baba, M. Kondo, Shigeru Hasebe, Kosei Ueshima, A. Kasai, Y. Ago, Atsuko Hayata-Takano, N. Shintani, Tokuichi Iguchi, Makoto Sato, S. Yamaguchi, Masaru Tamura, S. Wakana, A. Yoshiki, A. M. Watabe, H. Okano, K. Takuma, R. Hashimoto, H. Hashimoto, T. Nakazawa   +37 more
semanticscholar   +1 more source

Case Report: A Homozygous Mutation (p.Y62X) of Phospholipase D3 May Lead to a New Leukoencephalopathy Syndrome

Frontiers in Aging Neuroscience, 2021
Leukodystrophies are a heterogeneous group of inherited disorders with highly variable clinical manifestations and pathogenetic backgrounds. At present, variants in more than 20 genes have been described and may be responsible for different types of ...
Yi-Hui Liu, Yi-Hui Liu, Hai-Feng Zhang, Jie-Yuan Jin, Yan-Qiu Wei, Chen-Yu Wang, Liang-Liang Fan, Liang-Liang Fan, Liang-Liang Fan, Lv Liu, Lv Liu   +10 more
doaj   +1 more source

The albinism of the feral Asinara white donkeys (Equus asinus) is determined by a missense mutation in a highly conserved position of the tyrosinase (TYR) gene deduced protein.

Animal Genetics, 2016
A feral donkey population (Equus asinus), living in the Asinara National Park (an island north-west of Sardinia, Italy), includes a unique white albino donkey subpopulation or colour morph that is a major attraction of this park.
V. J. Utzeri, F. Bertolini, A. Ribani, G. Schiavo, S. Dall'Olio, L. Fontanesi   +5 more
semanticscholar   +1 more source

Mutation as a Toxicological Endpoint for Regulatory Decision‐Making

Environmental and Molecular Mutagenesis, 2019
Mutations induced in somatic cells and germ cells are responsible for a variety of human diseases, and mutation per se has been considered an adverse health concern since the early part of the 20th Century.
R. Heflich, G. Johnson, A. Zeller, F. Marchetti, G. Douglas, K. Witt, B. Gollapudi, P. White   +7 more
semanticscholar   +1 more source

Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders.

Blood, 2005
The analysis of rare chromosomal translocations in myeloproliferative disorders has highlighted the importance of aberrant tyrosine kinase signaling in the pathogenesis of these diseases.
A. Jones, S. Kreil, K. Zoi, K. Waghorn, Claire Curtis, Lingyan Zhang, J. Score, R. Seear, A. Chase, F. Grand, H. White, C. Zoi, D. Loukopoulos, E. Terpos, Elisavet-Christine Vervessou, B. Schultheis, M. Emig, T. Ernst, E. Lengfelder, R. Hehlmann, A. Hochhaus, D. Oscier, R. Silver, A. Reiter, N. Cross   +24 more
semanticscholar   +1 more source

Racial differences in characteristics and prognoses between Asian and white patients with nonsmall cell lung cancer receiving atezolizumab: An ancillary analysis of the POPLAR and OAK studies

International Journal of Cancer, 2020
This study aimed to compare the differences in characteristics and prognoses between Asian and white patients receiving immunotherapy for nonsmall cell lung cancer (NSCLC).
J. Qian, W. Nie, Jun Lu, Le-le Zhang, Yanwei Zhang, Bo Zhang, Shu-yuan Wang, Min-juan Hu, Jianlin Xu, Y. Lou, Yu Dong, Y. Niu, B. Yan, R. Zhong, Wei Zhang, T. Chu, H. Zhong, B. Han   +17 more
semanticscholar   +1 more source

Triple-Negative Breast Cancer in Georgia: Burden, Disparities, and Connections to Georgia's Breast Cancer Genomics Project

Journal of the Georgia Public Health Association, 2017
Background: Triple negative breast cancer (TNBC) is typically aggressive and unresponsive to traditional cancer treatment, and disproportionately affects young and Black women. Approximately 60%-80% of breast cancers in women with the breast cancer gene (
Alissa Berzen, Rana Bayakly
doaj   +1 more source

A 14-bp insertion in endothelin receptor B-like (EDNRB2) is associated with white plumage in Chinese geese

BMC Genomics, 2020
Background Gang goose is a native species with gray plumage in Sichuan, China. As a result of overhunting, the number of gray Gang geese has decreased dramatically. To keep the species from extinction, conservation work for Gang geese was undertaken.
Yang Xi, Lei Wang, Hehe Liu, Shengchao Ma, Yanying Li, Liang Li, Jiwen Wang, Han Chunchun, Lili Bai, Ahsan Mustafa, Hua He   +10 more
doaj   +1 more source

A machine learning approach for somatic mutation discovery

Science Translational Medicine, 2018
A machine learning approach to detect somatic mutations in cancer patients outperforms existing methods and may improve clinical outcome. Calling it like the algorithm sees it Somatic mutation calling is essential for the proper diagnosis and treatment ...
Derrick E. Wood, James A. White, Andrew P. Georgiadis, B. O. V. Emburgh, S. Parpart-Li, Jason S. Mitchell, V. Anagnostou, N. Niknafs, R. Karchin, E. Papp, Christine McCord, P. LoVerso, David R. Riley, L. Diaz, Siân Jones, M. Sausen, V. Velculescu, Samuel V. Angiuoli   +17 more
semanticscholar   +1 more source

The "silver" Japanese quail and the MITF gene: causal mutation, associated traits and homology with the "blue" chicken plumage

BMC Genetics, 2010
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, Coville Jean-Luc, Bed'hom Bertrand, Minvielle Francis, Inoue-Murayama Miho, Gourichon David   +5 more
doaj   +1 more source