Results 81 to 90 of about 15,343 (276)

Gene expression in Leishmania is regulated predominantly by gene dosage [PDF]

, 2017
Leishmania tropica, a unicellular eukaryotic parasite present in North and East Africa, the Middle East, and the Indian subcontinent, has been linked to large outbreaks of cutaneous leishmaniasis in displaced populations in Iraq, Jordan, and Syria. Here,
Berriman, Matthew, Beverley, Stephen M., Cotton, James A., Durrant, Caroline, Grigg, Michael E., Iantorno, Stefano A., Khan, Asis, Myler, Peter, Ouellette, Marc, Sacks, David L., Sanders, Mandy J., Warren, Wesley C., Weiss, Louis M.   +12 more
core   +3 more sources

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

The inference of gray whale (Eschrichtius robustus) historical population attributes from whole-genome sequences

BMC Evolutionary Biology, 2018
Background Commercial whaling caused extensive demographic declines in many great whale species, including gray whales that were extirpated from the Atlantic Ocean and dramatically reduced in the Pacific Ocean.
Anna Brüniche-Olsen, Rick Westerman, Zuzanna Kazmierczyk, Vladimir V. Vertyankin, Celine Godard-Codding, John W. Bickham, J. Andrew DeWoody   +6 more
doaj   +1 more source

Runs of homozygosity and distribution of functional variants in the cattle genome [PDF]

BMC Genomics, 2015
Recent developments in sequencing technology have facilitated widespread investigations of genomic variants, including continuous stretches of homozygous genomic regions. For cattle, a large proportion of these runs of homozygosity (ROH) are likely the result of inbreeding due to the accumulation of elite alleles from long-term selective breeding ...
Zhang, Qianqian, Guldbrandtsen, Bernt, Bosse, Mirte, Lund, Mogens S., Sahana, Goutam   +4 more
openaire   +5 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

Heterozygosity-Rich Regions in Canine Genome: Can They Serve as Indicators of Balancing Selection?

Animals
Compared to the negative effect of directional selection on genetic diversity, balancing selection acts oppositely and maintains variability across the genome.
Adrián Halvoník, Nina Moravčíková, Luboš Vostrý, Hana Vostra-Vydrova, Gábor Mészáros, Eymen Demir, Monika Chalupková, Radovan Kasarda   +7 more
doaj   +1 more source

Association of CDKN2A/B Homozygous Deletion and Extent of Resection With Survival of Patients With WHO CNS5 Grade 4 Astrocytoma

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives WHO grade 4 astrocytomas are associated with poor prognosis, and their prognostic factors remain controversial. This study aimed to identify the prognostic factors and develop a management algorithm for these patients. Methods This study retrospectively included 151 CNS5 adult grade 4 astrocytomas from two medical centers.
Jiawei Cai, Guanglin Zhu, Qiu He, Chen Luo, Lingyun Zhuo, Xingfu Wang, Yiming Chen, Xiaoyong Chen, Wendong You, Jiaheng Xu, Yuanxiang Lin, Dezhi Kang, Shuai Wu, Zanyi Wu   +13 more
wiley   +1 more source

Genome-wide detection of runs of homozygosity and heterozygosity in Tunchang pigs

Animal
Tunchang pigs, mainly distributed throughout Hainan Province of China, are well-known for their superior meat quality, crude feed tolerance, and adaptability to high temperatures and humidity.
S.Q. Liu, Y.J. Xu, Z.T. Chen, H. Li, Z. Zhang, Q.S. Wang, Y.C. Pan   +6 more
doaj   +1 more source

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Genome-wide homozygosity and multiple sclerosis in Orkney and Shetland Islanders [PDF]

, 2011
There is strong evidence for both genetic and environmental risk factors comprising the aetiology of multiple sclerosis (MS). While much progress has been made in recent years in identifying common genetic variants using genome-wide association studies ...
Counsell, Carl, McQuillan, Ruth, McWhirter, Rebekah E, Visser, Elizabeth, Wilson, James F   +4 more
core   +1 more source