Results 1 to 10 of about 899,978 (192)

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
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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
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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
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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
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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
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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
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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
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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
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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
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Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes

Scientific Reports, 2021
Chronic obstructive pulmonary disease (COPD) is a destructive inflammatory disease and the genes expressed within the lung are crucial to its pathophysiology.
Anna Esteve-Codina, Thomas P. Hofer, Dorothe Burggraf, Marion S. Heiss-Neumann, Wolfgang Gesierich, Anne Boland, Robert Olaso, Marie-Therese Bihoreau, Jean-Francois Deleuze, Winfried Moeller, Otmar Schmid, María Soler Artigas, Kathrin Renner, Jens M. Hohlfeld, Tobias Welte, Thomas Fuehner, Lukas Jerrentrup, Andreas Rembert Koczulla, Timm Greulich, Antje Prasse, Joachim Müller-Quernheim, Sumit Gupta, Christopher Brightling, Deepak R. Subramanian, David G. Parr, Umme Kolsum, Vandana Gupta, Imre Barta, Balázs Döme, János Strausz, Mariarita Stendardo, Marco Piattella, Piera Boschetto, Damian Korzybski, Dorota Gorecka, Adam Nowinski, Marc Dabad, Marcos Fernández-Callejo, David Endesfelder, Wolfgang zu Castell, Pieter S. Hiemstra, Per Venge, Elfriede Noessner, Thasso Griebel, Simon Heath, Dave Singh, Ivo Gut, Loems Ziegler-Heitbrock   +47 more
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