Results 71 to 80 of about 38,884 (324)

A physical map of a BAC clone contig covering the entire autosome insertion between ovine MHC Class IIa and IIb

BMC Genomics, 2012
Background The ovine Major Histocompatibility Complex (MHC) harbors genes involved in overall resistance/susceptibility of the host to infectious diseases.
Li Gang, Liu Ka, Jiao Shasha, Liu Haibo, Blair Hugh T, Zhang Peng, Cui Xiaoran, Tan Pingping, Gao Jianfeng, Ma Runlin Z   +9 more
doaj   +1 more source

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Genetic variation in recombination rate in the pig

Genetics Selection Evolution, 2021
Background Meiotic recombination results in the exchange of genetic material between homologous chromosomes. Recombination rate varies between different parts of the genome, between individuals, and is influenced by genetics.
Martin Johnsson, Andrew Whalen, Roger Ros-Freixedes, Gregor Gorjanc, Ching-Yi Chen, William O. Herring, Dirk-Jan de Koning, John M. Hickey   +7 more
doaj   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

The quiescent X, the replicative Y and the Autosomes [PDF]

, 2022
Guillaume Achaz, Serge Gangloff, Benoı̂t Arcangioli   +2 more
openalex   +1 more source

Predicting Epileptogenic Tubers in Patients With Tuberous Sclerosis Complex Using a Fusion Model Integrating Lesion Network Mapping and Machine Learning

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Accurate localization of epileptogenic tubers (ETs) in patients with tuberous sclerosis complex (TSC) is essential but challenging, as these tubers lack distinct pathological or genetic markers to differentiate them from other cortical tubers.
Tinghong Liu, Qi Wang, Suhui Kuang, Dezhi Cao, Ping Ding, Shaohui Zhang, Haihua Wei, Zhirong Wei, Jinshan Xu, Xinyu Huang, Bing Liu, Shuli Liang   +11 more
wiley   +1 more source

Evolutionary pattern of karyotypes and meiosis in pholcid spiders (Araneae: Pholcidae): implications for reconstructing chromosome evolution of araneomorph spiders

BMC Ecology and Evolution, 2021
Background Despite progress in genomic analysis of spiders, their chromosome evolution is not satisfactorily understood. Most information on spider chromosomes concerns the most diversified clade, entelegyne araneomorphs.
Ivalú M. Ávila Herrera, Jiří Král, Markéta Pastuchová, Martin Forman, Jana Musilová, Tereza Kořínková, František Šťáhlavský, Magda Zrzavá, Petr Nguyen, Pavel Just, Charles R. Haddad, Matyáš Hiřman, Martina Koubová, David Sadílek, Bernhard A. Huber   +14 more
doaj   +1 more source

Island-specific evolution of a sex-primed autosome in a sexual planarian [PDF]

, 2022
Longhua Guo, Joshua S. Bloom, Daniel Dols-Serrate, James Boocock, Eyal Ben‐David, Olga T. Schubert, Kaiya Kozuma, Katarina Ho, Emily Warda, Clarice Chui, Yubao Wei, Daniel Leighton, Tzitziki Lemus, Marta Riutort, Alejandro Sánchez Alvarado, Leonid Kruglyak   +15 more
openalex   +1 more source

Patterns of Postictal Abnormalities in Relation to Status Epilepticus in Adults

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Abnormalities on peri‐ictal diffusion‐weighted magnetic resonance imaging (DWI‐PMAs) are well‐established for patients with status epilepticus (SE), but knowledge on patterns of DWI‐PMAs and their prognostic impact is sparse. Methods This systematic review and individual participant data meta‐analysis included observational studies ...
Andrea Enerstad Bolle, Silvana Sarria‐Estrada, Thomas Bonduelle, Bertram Daniel Dynesen, Manuel Toledo, Zhu Chung Che, Kjell Heuser, Anastasios Chatzikonstantinou, Jérôme Aupy, Udaya Seneviratne, Estevo Santamarina Perez, Christoph Patrick Beier   +11 more
wiley   +1 more source

A genome-wide study of Hardy–Weinberg equilibrium with next generation sequence data [PDF]

, 2017
Statistical tests for Hardy–Weinberg equilibrium have been an important tool for detecting genotyping errors in the past, and remain important in the quality control of next generation sequence data.
AM Veerappa, Bruce Weir, BS Weir, Deepti Jain, DL Hartl, G Benson, I Gomes, J Graffelman, J Graffelman, J Graffelman, JA Bailey, JA Traherne, Jan Graffelman, JE Wigginton, JF Crow, JS Beckmann, L Crooks, L Hosking, R Nielsen, RV Rohlfs, SM Leal, TH Emigh, The MHC sequencing consortium, YY Teo   +23 more
core   +3 more sources