Results 1 to 10 of about 488,818 (245)

Prevalence of loss-of-function, gain-of-function and dominant-negative mechanisms across genetic disease phenotypes [PDF]

Nature Communications
Molecular disease mechanisms caused by mutations in protein-coding regions are diverse, but they can be broadly categorised into loss-of-function, gain-of-function and dominant-negative effects.
Mihaly Badonyi, Joseph A. Marsh
doaj   +2 more sources

Whole‐genome sequencing bulked segregant analysis uncovered FW7, a Fusarium wilt resistance gene masked by epistasis in octoploid strawberry [PDF]

The Plant Genome
Fusarium wilt, a vascular disease of strawberry (Fragaria × ananassa) caused by the soilborne fungal pathogen Fusarium oxysporum f. sp. fragariae, has emerged over the past 20 years as a leading cause of severe plant wilt and death in California and many
Mishi V. Vachev, Marta Bjornson, Dominique D. A. Pincot, Randi A. Famula, John T. Lovell, Avril M. Harder, Lori H. Handley, Jane Grimwood, Hillel Brukental, Cindy M. Lòpez, Glenn S. Cole, Mitchell J. Feldmann, Steven J. Knapp   +12 more
doaj   +2 more sources

Candidate genes in ocular dominance plasticity [PDF]

Frontiers in Neuroscience, 2012
Many studies have been devoted to the identification of genes involved in experience-dependent plasticity in the visual cortex. To discover new candidate genes, we have reexamined data from one such study on ocular dominance (OD) plasticity in recombinant inbred BXD mouse strains. We have correlated the level of plasticity with the gene expression data
Rietman, M.L., Sommeijer, J.-P., Levelt, C.N., Heimel, J.A., Brussaard, A.B., Borst, J.G.G., Elgersma, Y., Galjart, N., van der Horst, G.T., Pennartz, C.M., Smit, A.B., Spruijt, B.M., Verhage, M., de Zeeuw, C.I.   +13 more
openaire   +6 more sources

Mapping of leaf rust resistance genes in common wheat ‘Guinong08-6’

Semina: Ciências Agrárias, 2023
Wheat leaf rust (Puccinia triticina Eriks.), a devastating disease of wheat in the world, causes severe yield losses and therefore the development of resistant cultivars is very important.
Luhua Li, Jianshu Sui, Mingjian Ren, Ruhong Xu   +3 more
doaj   +1 more source

Phenotypic and molecular screening of dry bean (Phaseolus vulgaris L.) breeding lines for resistance to bean common mosaic virus and bean common mosaic necrosis virus

Acta Scientiarum Polonorum: Hortorum Cultus, 2021
Bean common mosaic virus (BCMV) and bean common mosaic necrosis virus (BCMNV) are among the most economically important virus species infecting common bean.
İlyas Deligoz, Miray Arlı-Sökmen, Mucella Tekeoglu   +2 more
doaj   +1 more source

Multiple minute digitate hyperkeratosis - a peculiar entity [PDF]

Anais Brasileiros de Dermatologia, 2015
Multiple minute digitate hyperkeratosis is a rare, non-follicular dermatosis, with fewer than 30 cases described worldwide. It can be either acquired or inherited in an autosomal dominant pattern.
Inês Coutinho, Ana Rita Gameiro, Miguel Pinto Gouveia, José Carlos Cardoso, Américo Figueiredo   +4 more
doaj   +1 more source

ITGB5 mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome

Open Life Sciences, 2021
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal-dominant genetic disorder, and mutations in the forkhead box L2 (FOXL2) gene are one of the major genetic causes.
Cheng Tianling, Yuan Xiaobin, Yuan Shaopeng, Zhu Jianying, Tang Shengjian, Zhang Yujie   +5 more
doaj   +1 more source

Differential Expression of -Associated Genes in Autosomal Dominant Polycystic Kidney Disease [PDF]

Genomics & Informatics, 2012
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by formation of multiple fluid-filled cysts that expand over time and destroy renal architecture. The proteins encoded by the PKD1 and PKD2 genes, mutations in which account for nearly
Yeon Joo Yook, Yu Mi Woo, Moon Hee Yang, Je Yeong Ko, Bo Hye Kim, Eun Ji Lee, Eun Sun Chang, Min Joo Lee, Sunyoung Lee, Jong Hoon Park   +9 more
doaj   +1 more source

Dominance from the perspective of gene–gene and gene–chemical interactions [PDF]

Genetica, 2015
In this study, we used genetic interaction (GI) and gene-chemical interaction (GCI) data to compare mutations with different dominance phenotypes. Our analysis focused primarily on Saccharomyces cerevisiae, where haploinsufficient genes (HI; genes with dominant loss-of-function mutations) were found to be participating in gene expression processes ...
Gladki, Arkadiusz, Zielenkiewicz, Piotr, Kaczanowski, Szymon   +2 more
openaire   +2 more sources

DNA hypomethylation characterizes genes encoding tissue-dominant functional proteins in liver and skeletal muscle

Scientific Reports, 2023
Each tissue has a dominant set of functional proteins required to mediate tissue-specific functions. Epigenetic modifications, transcription, and translational efficiency control tissue-dominant protein production.
Hideki Maehara, Toshiya Kokaji, Atsushi Hatano, Yutaka Suzuki, Masaki Matsumoto, Keiichi I. Nakayama, Riku Egami, Takaho Tsuchiya, Haruka Ozaki, Keigo Morita, Masaki Shirai, Dongzi Li, Akira Terakawa, Saori Uematsu, Ken-ichi Hironaka, Satoshi Ohno, Hiroyuki Kubota, Hiromitsu Araki, Fumihito Miura, Takashi Ito, Shinya Kuroda   +20 more
doaj   +1 more source