Results 31 to 40 of about 731,846 (342)

Bifurcation into functional niches in adaptation [PDF]

, 2004
One of the central questions in evolutionary biology concerns the dynamics of adaptation and diversification. This issue can be addressed experimentally if replicate populations adapting to identical environments Call be investigated in detail.
Adami, Christoph, White, Justin S.
core   +2 more sources

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, Hang Zhou, Yan Lu, You Wang, You Wang, Yingsi Li, Jiaxin Xue, Ken Cheng, Ken Cheng, Ruibin Huang, Jin Han   +10 more
doaj   +1 more source

O-GlcNAcase contributes to cognitive function in Drosophila [PDF]

, 2020
Contains fulltext : 219183.pdf (publisher's version ) (Open ...
Catinozzi, Marica, Eidhof, Ilse, Fenckova, Michaela, Ferenbach, Andrew, Muha, Villo, Schenck, Annette, Storkebaum, Erik, van Aalten, Daan   +7 more
core   +3 more sources

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

Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China

BMC Musculoskeletal Disorders, 2021
Background Polyglucosan body myopathy 1 (PGBM1) is a type of glycogen storage disease that can cause skeletal muscle myopathy and cardiomyopathy with or without immunodeficiency due to a pathogenic mutation in the RBCK1 gene.
Lin Chen, Nan Wang, Wenbin Hu, Xuen Yu, Renming Yang, Yongzhu Han, Yan Yan, Na Nian, Congbo Sha   +8 more
doaj   +1 more source

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency) [PDF]

, 2010
Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of L-{alpha}-aminoadipic semialdehyde/L-{Delta}
Adam, Basura, Baxter, Bennett, Bernhard Schmitt, Cheryl Hemingway, Clayton, Clayton, Cornelis Jakobs, Eduard A. Struys, Emma J. Footitt, Ernst Christensen, François Feillet, Gallagher, Gospe, Goto, Hoffmann, Hunt, Janet Rennie, Kaczorowska, Kanno, Karin Tuschl, Kevin A. Mills, Kim, Kluger, Kurlemann, Lauras, M. Imelda Hughes, Mike G. Pike, Mills, Nabbout, Neil Marlow, Olivier Dulac, Ormazabal, Pascale De Lonlay, Peduto, Perozich, Peter Baxter, Peter T. Clayton, Philippa B. Mills, Plecko, Plecko, Rankin, Rima Nabbout, Salomons, Sameer M. Zuberi, Sarah Aylett, Sophia Varadkar, Striano, Tang, William J. Craigen   +50 more
core   +3 more sources

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

A closer look at ARSA activity in a patient with metachromatic leukodystrophy. [PDF]

, 2019
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease mainly caused by a deficiency of arylsulfatase A activity. The typical clinical course of patients with the late infantile form includes a regression in motor skills ...
Childers, Anna, Clark, Matthew, Doherty, Kathleen, Duis, Jessica, Frazier, S. Barron, Pruthi, Sumit, Wenger, David A.   +6 more
core   +2 more sources

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

Regional association of pCASL-MRI with FDG-PET and PiB-PET in people at risk for autosomal dominant Alzheimer's disease. [PDF]

, 2018
Autosomal dominant Alzheimer's disease (ADAD) is a small subset of Alzheimer's disease that is genetically determined with 100% penetrance. It provides a valuable window into studying the course of pathologic processes that leads to dementia.
Coppola, Giovanni, Huang, Sung-Cheng, Jann, Kay, Liu, Collin Y, Mack, Wendy J, Ringman, John M, Wang, Danny JJ, Wong, Koon-Pong, Yan, Lirong   +8 more
core   +3 more sources