Results 151 to 160 of about 78,400 (304)

Guideline for the Diagnosis and Management of Heritable IFNAR1 Deficiency in Oceania

Journal of Paediatrics and Child Health, EarlyView.
ABSTRACT Autosomal recessive interferon alpha and beta receptor subunit 1 (IFNAR1) deficiency is a rare and heritable inborn error of immunity (IEI) predisposing individuals to severe and life‐threatening viral infections. It is more common in people of Western Polynesian ancestry, with estimates of around one in six thousand live births affected, due ...
Cecilia Verryt, Paul Gray, Peter McNaughton, Jane Peake, Melanie Wong, George Aho, Emma Best, Maia Brewerton, Flora Lutui, Litara Esera Tulifau, Rebecca Qin, Satupa‘itea Viali, Petine White, Andrew Wood, See‐Tarn Woon, Theresa Cole, Alberto Pinzon Charry, Kuang‐Chih Hsiao   +17 more
wiley   +1 more source

Full‐length coding sequence analysis of the voltage‐gated sodium channel and acetylcholinesterase genes reveals target‐site mutations and acetylcholinesterase gene duplication in housefly (Musca domestica) populations in Japanese livestock barns

Medical and Veterinary Entomology, EarlyView.
We simultaneously analysed insecticide resistance mutations in VGSC and AChE using NGS and hybridization probe capture in houseflies collected from livestock facilities for the first time. Resistance mutations in both VGSC and AChE were detected in most wild populations, suggesting widespread distribution of resistance genes.
Mikie Nakagawa, Kentaro Itokawa, Nozomi Uemura, Yasuhiro Tomioka, Tsutomu Tanikawa, Kyo Itoyama, Shinji Kasai, Osamu Komagata   +7 more
wiley   +1 more source

Burden of heterozygote carriers for autosomal recessive conditions in the Middle East: A study of 14,392 genomes. [PDF]

HGG Adv
Nkrumah E, Al-Mulla H, Bashar A, Soman V, Saad C, Wang J, Darabi H, Yatsenko SA, Rajkovic A, Chandran U, Mbarek H, Aarabi M.   +11 more
europepmc   +1 more source

Evaluation of the contribution of trio-exome sequencing in selected prenatal indications. [PDF]

Front Genet
Chretien M, Osouf J, Abel C, Afenjar A, Attie-Bitach T, Brischoux-Boucher E, Burglen L, Calmels N, Chassaing N, Courtin T, Delanne J, Doco-Fenzy M, Dubourg C, Durand B, Chehadeh SE, Faivre L, Garde A, Ginglinger E, Haushalter V, Haye D, Heide S, Heidet L, Heron D, Jacquin C, Lambert L, Lamouche JB, Laugel V, Bechec AL, Lehalle D, Michel-Calemard L, Ramirez EM, Muller J, Odent S, Patat O, Piard J, Poirsier C, Putoux A, Quelin C, Racine C, Sananes N, Schalk A, Scheidecker S, Thauvin-Robinet C, Valence S, Weingertner AS, Wourms J, Dollfus H, Gerard B, Schluth-Bolard C, Schaefer E.   +49 more
europepmc   +1 more source

Harnessing Bulk‐Segregant Mapping to Identify Trait‐Associated Genes in the Allopolyploid Model Plant Nicotiana benthamiana

Plant Biotechnology Journal, EarlyView.
ABSTRACT Forward genetics has been instrumental in identifying genes underlying desirable traits, yet its application to polyploid plants, many of which are key agricultural crops, remains challenging due to their genomic complexity. Therefore, we developed BenthMap, a bulk segregant analysis platform for high‐throughput trait mapping and gene ...
Zuba Ahmed, Jiyuan An, Satomi Hayashi, Julia Bally, Chris Winefield, Peter M. Waterhouse   +5 more
wiley   +1 more source

Genetic variation of CBS (844ins68) and MTHFR A1298C among aluminum-exposed workers with emphasis on the role of oxidative stress. [PDF]

J Egypt Public Health Assoc
Aziz NSA, Shahy EM, Taha MM, Mahdy-Abdallah H, Ibrahim KS, Mahdy GM, Ellaithy LS.   +6 more
europepmc   +1 more source

Rice EMF3 Alleles Adjust Flower Opening Time to Enhance the Seed Setting Rate Under High Temperature Stress

Plant Biotechnology Journal, EarlyView.
ABSTRACT To safeguard global food security against rapid population growth and a warming world, the effective genetic improvement of cereals is imperative. Flower opening time (FOT) critically affects the seed setting rate. In this study, we identified a gene, EARLY‐MORNING FLOWERING 3 (EMF3), in which single‐nucleotide substitutions strongly modulate ...
Takuma Ishizaki, Yoichi Hashida, Hideyuki Hirabayashi, Kazuhiro Sasaki, Hiroki Tokunaga, Eliza Vie M. Simon‐Ada, Masataka Wakayama, Toshiyuki Takai, Hiroki Saito, Atsushi J. Nagano, Hitoshi Sakakibara, Mikiko Kojima, Yumiko Takebayashi, Sung‐Ryul Kim, Ryo Matsushima, Michael J. Thomson, Kazuhiko Sugimoto, Ken‐Ichiro Hibara, Tsutomu Ishimaru   +18 more
wiley   +1 more source

Genetic insights into unexplained infant jaundice: a study from northern Guangdong, China. [PDF]

Front Pediatr
Gao F, Li S, Chen Y, Zhou Y, Hu L, Qiu J.   +5 more
europepmc   +1 more source

IrregulAB: An open‐source rule‐based engine for automated red cell antibody panel interpretation

Transfusion, EarlyView.
Abstract Background Interpretation of antibody identification panels remains a manual, expertise‐intensive step in transfusion testing; interpretive errors and long turnaround times persist even in well‐equipped hospitals. Existing commercial software is closed source and often omits enzyme‐phase, cold‐phase, and dosage‐sensitive exclusion rules ...
Davide Crucitti, Violeta Vidal Ballester, Jesús Gómez Fernández, Eugenia Fernandez Mellid, Angie Lizeth Ruge Perdomo, Carlos Pérez Míguez, Adrián Mosquera Orgueira   +6 more
wiley   +1 more source

Genetic Footprints of Seasonal Fluctuating Selection: A Comparison With Established Selection Forms. [PDF]

Genome Biol Evol
Johnson OL, Tobler R, Schmidt JM, Huber CD.   +3 more
europepmc   +1 more source