Results 91 to 100 of about 58,203 (304)

Comparative assessment of methods for estimating individual genome-wide homozygosity-by-descent from human genomic data

BMC Genomics, 2010
Background Genome-wide homozygosity estimation from genomic data is becoming an increasingly interesting research topic. The aim of this study was to compare different methods for estimating individual homozygosity-by-descent based on the information ...
McQuillan Ruth, Saftić Vanja, Kolčić Ivana, Vitart Veronique, Bellenguez Celine, Hayward Caroline, Polašek Ozren, Gyllensten Ulf, Wilson James F, Rudan Igor, Wright Alan F, Campbell Harry, Leutenegger Anne-Louise   +12 more
doaj   +1 more source

Genome-wide SNP genotyping as a simple and practical tool to accelerate the development of inbred lines in outbred tree species: An example in cacao (Theobroma cacao L.).

PLoS ONE, 2022
Cacao is a globally important crop with a long history of domestication and selective breeding. Despite the increased use of elite clones by cacao farmers, worldwide plantations are established mainly using hybrid progeny material derived from ...
Uilson Vanderlei Lopes, José Luis Pires, Karina Peres Gramacho, Dario Grattapaglia   +3 more
doaj   +1 more source

SPG4 and Dementia: Expanding the Clinical Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza, Arun Meyyazhagan, Eliseo Picchi, Gustavo Ribas, Ingrid Faber, Ryosuke Miyamoto, Preethi Basavaraju, Paolo Eusebi, Haripriya Kuchi Bhotla, Mario Stasi, Fabrizio Gaudiello, Francesco Patti, Filippo Maria Santorelli, Marcondes Cavalcante França Jr, José Luiz Pedroso, Orlando Graziani Povoas Barsottini, Hélio Afonso Ghizoni Teive, Peter Henry St George‐Hyslop, Toshitaka Kawarai, Antonio Orlacchio   +19 more
wiley   +1 more source

Multi-locus homozygosity promotes actuarial senescence in a wild mammal.

, 2023
Genome-wide homozygosity, caused for example by inbreeding, is expected to have deleterious effects on survival and/or reproduction. Evolutionary theory predicts that any fitness costs are likely to be detected in late life because natural selection will
DW Hudson (21921122), R Delahay (21828308), TJ McKinley (21855602), CH Benton (21854513), RA McDonald (16310592), DJ Hodgson (14460636)   +5 more
core  

ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan, Yan Jiang, Yuxuan Yong, Tianshuo Zhang, Niannian Zhang, Qianqian Zeng, Xue Gong, Li Meng, Fangfang Bi, Yongmin Liu   +9 more
wiley   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Finnish HLA studies confirm the increased risk conferred by HLA-B27 homozygosity in ankylosing spondylitis

, 2006
Objective: To determine the influence of HLA-B27 homozygosity and HLA-DRB1 alleles in the susceptibility to, and severity of, ankylosing spondylitis in a Finnish population.
Pointon, JJ, Herzberg, I., Tuomilehto, J, Tuomilehto-Wolf, E., Laiho, Kari, Herzberg, Ibi, Jaakkola, E, Laiho, K., Barnardo, M. C. N. M., Jaakkola, E., Laiho, K, Brown, Matthew A., Tuomilehto, J., Wordsworth, B. P., Pointon, Jennifer J., Wordsworth, B. Paul, Wordsworth, Bryan, Kaarela, Kalevi, Herzberg, I, Kauppi, M, Kaarela, K., Barnardo, MC, Jaakkola, Elisa, Brown, M A, Kaarela, K, Kauppi, Markku, Tuomilehto-Wolf, E, Brown, MA, Kauppi, M., Wordsworth, BP, Tuomilehto-Wolf, Eva, Pointon, J. J., Barnardo, Martin C.N.M., Tuomilehto, Jaakko   +33 more
core   +1 more source

Low Heterozygosity and Historical Bottleneck Effect Depicted From the Genome Assembly of the Indus River Dolphin (Platanista minor)

Ecology and Evolution
The Indus River dolphin (Platanista minor) is a highly endangered freshwater dolphin endemic to the Indus River system of the Indian subcontinent. We reported a de novo assembly and characterization of the draft genome of the Indus River dolphin by using
Aamir Ibrahim, Simin Chai, Cuijuan Zhong, Kang Jieqiong, Ahsaan Ali, Sajjad Hussain, Hassan Ali, Tanveer Hussain, Umer Waqas, Guang Yang   +9 more
doaj   +1 more source

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING

, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
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