Results 41 to 50 of about 717,864 (344)

Clinical disorders affecting mesopic vision [PDF]

, 2006
Vision in the mesopic range is affected by a number of inherited and acquired clinical disorders. We review these conditions and summarize the historical background, describing the clinical characteristics alongside the genetic basis and molecular ...
Abramowicz M., Ahmed F., Ahmed F., Al-Kubaisy W., Asrat Y., Ayyagari R., Baillie I., Bergen H. R., Berson E., Bloem M., Bordley J., Bret-Dibat C., Brink E., Burstedt M., Burstedt M., Capon M., Carr R., Carr R., Chisholm C., Christian P., Cunier F., de Pee S., DOG, Donnen P., Duke-Elder S., Fishman G., Fuchs A., Fuchs A., Gross-Jendroska M., Guy J., Haidar J., Hartmann E., Hayashi T., Hayashi T., Heckenlively J., Kalloniatis M., Kamei M., Kellner U., Kolling G., Lauber H., Lei B., Lorenz B., Main A., Marmor M., Marmor M., McBain V., Mele L., Milam A., Miyake Y., Miyake Y., Miyake Y., Mizuo A., Morimura H., Nabakwe E., Nettleship E., Oguchi C., Onder C., Parker W., Perlman I., Pesudovs K., Phelan J., Polans A., Polkinghorne P., Ramalho R., Reiner J., Resnikoff S., Ripps H., Rosen D., Rosen D., Rougier M., Ruiz-Martin M., Saunders C., Sawyer R., Schaumberg D., Schemann J., Schlote T., Schubert G., Sharp D., Shaw C., Skinner H., Smith R. A. J., Sommer A., Somner A., Sorsby A., Souied E., Spalton D., Stephenson S., Stockman A., Tabata Y., Takeuchi T., Taren D., Thirkill C., Tielsch J., Underwood B., Uyemura M., Weinstein J., Weiss J., Weiss N., Wolf G., Wolf G., Wolfe J. E.   +100 more
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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

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

Comparative transcriptomic analysis unveils interactions between the regulatory CarS protein and light response in Fusarium [PDF]

, 2019
Background The orange pigmentation of the agar cultures of many Fusarium species is due to the production of carotenoids, terpenoid pigments whose synthesis is stimulated by light.
Limón Mirón, María del Carmen, Pardo Medina, Javier, Parra Rivero, Obdulia, Romero Campero, Francisco José, Ruger Herreros, María Macarena, Ávalos Cordero, Francisco Javier   +5 more
core   +1 more source

Brain MR Spectroscopy Changes Precede Frontotemporal Lobar Degeneration Phenoconversion in Mapt Mutation Carriers. [PDF]

, 2019
Background and purposeThe objective of this study was to longitudinally investigate the trajectory of change in 1 H MRS measurements in asymptomatic MAPT mutation carriers who became symptomatic during follow-up, and to determine the time at which the ...
Boeve, Bradley F, Boxer, Adam L, Brushaber, Danielle, Chen, Qin, Dheel, Christina, Fields, Julie, Forsberg, Leah, Gavrilova, Ralitza, Gearhart, Debra, Graff-Radford, Jonathan, Graff-Radford, Neill, Gunter, Jeffrey L, Haley, Dana, Jones, David, Kantarci, Kejal, Knopman, David, Kraft, Ruth, Lapid, Maria, Lesnick, Timothy, Rademakers, Rosa, Rosen, Howie, Tosakulwong, Nirubol, Wszolek, Zbigniew K   +22 more
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Whole genome sequencing for mutation discovery in a single case of lysosomal storage disease (MPS type 1) in the dog. [PDF]

, 2020
Mucopolysaccharidosis (MPS) is a metabolic storage disorder caused by the deficiency of any lysosomal enzyme required for the breakdown of glycosaminoglycans.
Aguilar, Miriam, Ancona, Devin, Bannasch, Danika, Brown, C. Titus, Cowan, Tina, Knipe, Marguerite, Mansour, Tamer, Moore, Bret, Seada, Haitham, Sebbag, Lionel, Sebbag, Lionel, Thomasy, Sara, Vernau, Karen, Woolard, Kevin   +13 more
core   +3 more sources

Mutations in the RB1 Gene in Argentine Retinoblastoma Patients and Uncommon Clinical Presentations [PDF]

, 2015
Background: Retinoblastoma, the most common ocular cancer of childhood, is caused by inactivation of the RB1 tumor suppressor gene in the developing retina.
Alonso, Cristina, Ferrer, Marcela Maria, Giliberto, Florencia, Luce, Leonela Natalia, Ottaviani, Daniela, Parma, Diana Lidia, Szijan, Irena   +6 more
core   +1 more source

Cortical connectivity in the face of congenital structural changes—A case of homozygous LAMC3 mutation

Brain and Behavior, 2021
The homozygous LAMC3 gene mutation is associated with severe bilateral smoothening and thickening of the lateral occipital cortex . Despite this and further significant changes in gray matter structure, a patient harboring this mutation exhibited a range
Pinar Demirayak, Kader Karli Oguz, Fatma Seyhun Ustun, Buse Merve Urgen, Yasemin Topac, Irtiza Gilani, Tulay Kansu, Serap Saygi, Tayfun Ozcelik, Huseyin Boyaci, Katja Doerschner   +10 more
doaj   +1 more source

Mutations in pathways depending on BRCA1 and BRCA2 may increase cancer risks from an environmental carcinogen [PDF]

, 2011
Recently, the President’s Cancer Panel [2008-2009] protested that preventive action is not taken when uncertainty exists about potential harm from a chemical, because the US regulatory approach demands that a hazard be incontrovertibly ...
Bernard Friedenson
core   +2 more sources

Large-scale structural alteration of brain in epileptic children with SCN1A mutation

NeuroImage: Clinical, 2017
Objective: Mutations in SCN1A gene encoding the alpha 1 subunit of the voltage gated sodium channel are associated with several epilepsy syndromes including genetic epilepsy with febrile seizures plus (GEFS+) and severe myoclonic epilepsy of infancy ...
Yun-Jeong Lee, Mi-Sun Yum, Min-Jee Kim, Woo-Hyun Shim, Hee Mang Yoon, Il Han Yoo, Jiwon Lee, Byung Chan Lim, Ki Joong Kim, Tae-Sung Ko   +9 more
doaj   +1 more source