Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Stop Gain"'
Autor:
Ke Wang, María Gracia Luigi-Sierra, Anna Castelló, Taina Figueiredo-Cardoso, Anna Mercadé, Amparo Martínez, Juan Vicente Delgado, Javier Fernández Álvarez, Antonia Noce, Mingjing Wang, Jordi Jordana, Marcel Amills
Publikováno v:
Journal of Dairy Science, Vol 107, Iss 12, Pp 11224-11238 (2024)
ABSTRACT: Nonsense variants can inactivate gene function by causing the synthesis of truncated proteins or by inducing nonsense mediated decay of messenger RNAs. The occurrence of such variants in the genomes of livestock species is modulated by mult
Externí odkaz:
https://doaj.org/article/7462219c89634531835de9c1a10db23a
Publikováno v:
Botanical Studies, Vol 65, Iss 1, Pp 1-13 (2024)
Abstract Quinoa (Chenopodium quinoa, 2n = 4x = 36), a super pseudocereal crop, has been introduced into China nearly 60 years. Many excellent varieties have been developed through massive selection; however, few are developed through mutagenesis bree
Externí odkaz:
https://doaj.org/article/c5b34947c27e413c8ab63ed2dc0d345e
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 11, Pp n/a-n/a (2023)
Abstract Background BICRA, a transcript regulator, was identified as the genetic factor of Coffin–Siris syndrome 12 (CSS12) recently, which was characterized by diverse neurodevelopmental delays. Up to now, limited studies of BICRA in neurodevelopm
Externí odkaz:
https://doaj.org/article/f6799c22f0b1482481e11adcc56d58b5
Akademický článek
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Akademický článek
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Autor:
Malihe Mirzaei, Arghavan Kavosi, Mahboobeh Sharifzadeh, Ghazale Mahjoub, Mohammad Ali Faghihi, Parham Habibzadeh, Majid Yavarian
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Dihidropyrimidinase (DHP) deficiency is an inherited inborn error of pyrimidine metabolism with a variable clinical presentation and even asymptomatic subjects. Dihydropyrimidinase is encoded by the DPYS gene, thus pathogenic muta
Externí odkaz:
https://doaj.org/article/869381773d4e409f843b18e28ac102ba
Autor:
Anh N. L. Phan, Thuy T. T. Pham, Nghia Huynh, Tuan M. Nguyen, Cuc T. T. Cao, Duong T. Nguyen, Duc T. Le, Chi‐Bao Bui
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 5, Pp n/a-n/a (2020)
Abstract Background Lipopolysaccharide‐responsive and beige‐like anchor (LRBA) deficiency is a rare autosomal recessive common variable immunodeficiency (CVID), affecting 1:25,000–1:50,000 people worldwide. Biallelic mutations in the gene LRBA
Externí odkaz:
https://doaj.org/article/8bde6b5ce82d483bbbbca531205f69f2
Akademický článek
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Autor:
Sujayendra Kulkarni, Rajat Hegde, Smita Hegde, Suyamindra S Kulkarni, Suresh Hanagvadi, Kusal K Das, Sanjeev Kolagi, Pramod B Gai, Rudragouda Bulagouda
Publikováno v:
Blood research
Background Hemophilia B (HB) is an X-linked bleeding disorder resulting from coagulation factor IX defects. Over 3,000 pathogenic, HB-associated mutations in the F9 gene have been identified. We aimed to investigate the role of F9 variants in 150 HB
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::287a7f64bdf818233a9a7fbf54311983
https://doi.org/10.5045/br.2021.2021016
https://doi.org/10.5045/br.2021.2021016
Publikováno v:
World Journal of Clinical Cases
BACKGROUND Alström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::546f3bee49672d643d9f4083bca4dbd6
http://europepmc.org/articles/PMC8080750
http://europepmc.org/articles/PMC8080750