Results 81 to 90 of about 23,484 (271)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Runs of Homozygosity Preliminary Investigation in Pig Breeds

Animals
Runs of homozygosity (ROH) are contiguous homozygous genomic segments that provide valuable insights into population history, selection pressures, and inbreeding levels. However, the global distribution of ROH and their implications for pig domestication and breeding are not yet fully understood.
Yuqiang Liu, Guangzhen Li, Wondossen Ayalew, Zhanming Zhong, Xiaohong Liu, Jiajie Sun, Jiaqi Li   +6 more
openaire   +3 more sources

Simultaneous testing of rule- and model-based approaches for runs of homozygosity detection opens up a window into genomic footprints of selection in pigs

BMC Genomics, 2022
Background Past selection events left footprints in the genome of domestic animals, which can be traced back by stretches of homozygous genotypes, designated as runs of homozygosity (ROHs).
Jan Berghöfer, Nadia Khaveh, Stefan Mundlos, Julia Metzger   +3 more
doaj   +1 more source

Genome-wide screening for DNA variants associated with reading and language traits [PDF]

, 2014
This research was funded by: Max Planck Society, the University of St Andrews - Grant Number: 018696, US National Institutes of Health - Grant Number: P50 HD027802, Wellcome Trust - Grant Number: 090532/Z/09/Z, and Medical Research Council Hub Grant ...
Bates, Timothy C, Brandler, William M, DeFries, John C, Evans, David M, Fisher, Simon E, Francks, Clyde, Gialluisi, Alessandro, Luciano, Michelle, Monaco, Anthony P, Newbury, Dianne F, Olson, Richard K, Paracchini, Silvia, Pennington, Bruce F, Scerri, Thomas S, Simpson, Nuala H, Smith, Shelley D, Stein, John F, Talcott, Joel B, The SLI Consortium, Wilcutt, Erik G   +19 more
core   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source

Genome-Wide Population Genetic Analysis of Commercial, Indigenous, Game, and Wild Chickens Using 600K SNP Microarray Data

Frontiers in Genetics, 2020
Following chicken domestication, diversified chicken breeds were developed by both natural and artificial selection, which led to the accumulation of abundant genetic and phenotypic variations, making chickens an ideal genetic research model.
Jinxin Zhang, Changsheng Nie, Xinghua Li, Zhonghua Ning, Yu Chen, Yaxiong Jia, Jianlin Han, Liang Wang, Xueze Lv, Weifang Yang, Lujiang Qu   +10 more
doaj   +1 more source

Studies on the Hemoglobin of Cooley's Anemia and Cooley's Trait [PDF]

, 1952
The diseases sickle cell anemia and Cooley's anemia (also known as thalassemia or Mediterranean anemia) have associated with them "minor" or "trait" forms of the disease in which the symptomatology is minimal, and the abnormalities in the red cells are ...
Rich, Alexander
core  

Testing water-soluble carbohydrate QTL effects in perennial ryegrass (Lolium perenne L.) by marker selection [PDF]

Water-soluble carbohydrates (WSC) are an important factor determining the nutritional value of grass forage and development of genetic markers for selection of WSC traits in perennial ryegrass would benefit future breeding programmes.
Dolstra, O., Farrell, M., Humphreys, M.O., Turner, L.B.   +3 more
core   +3 more sources

Whole exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association [PDF]

, 2014
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most frequent cause of end-stage renal disease in children in the US.
Bartels, Enrika, Bogdanovic, Radovan, Brosens, Erwin, de Blaauw, Ivo, de Klein, Annelies, Draaken, Markus, Dworschak, Gabriel C., Esposito, Franca, Gee, Heon Yung, Grasshoff-Derr, Sabine, Heij, Hugo, Herrmann, Bernhard G., Hildebrandt, Friedhelm, Hilger, Alina C., Holland-Cunz, Stefan, Hwang, Daw-Yang, Kohl, Stefan, Ludwig, Michael, Marcelis, Carlo L.M., Matassa, Danilo S., Mäzheuser, Stefanie, Natarajan, Sivakumar, Nöhen, Markus M., Pennimpede, Tracie, Reutter, Heiko M., Saisawat, Pawaree, Schmidt, Dominik, Schmiedeke, Eberhard, Solomon, Benjamin D., Sperry, Ethan, Stajić, Nataša, Tasic, Velibor, Tibboel, Dick, van Rooij, Iris A.L.M., Wijers, Charlotte H.W.   +34 more
core   +2 more sources

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source