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Comprehensive functional characterization of complement factor I rare variant genotypes identified in the SCOPE geographic atrophy cohort
Hallam, Thomas M., Andreadi, Anneliza, Sharp, Scott J., Brocklebank, Vicky, Gardenal, Emanuela, Dreismann, Anna, Arora, Rashi, Dennis, Marcus, Flaxel, Christina, Hall, Edward, Hoyng, Carel, Charbel Issa, Peter, Leveziel, Nicolas, Molnár, Fanni, Navarro, Rafael, Schneiderman, Todd, Steel, David, Tadayoni, Ramin, Tezel, Tongalp, Weber, Michel, Lotery, Andrew J., Marchbank, Kevin J., Harris, Claire L., Jones, Amy V., Kavanagh, David
Published in The Journal of biological chemistry (01.07.2024)
Published in The Journal of biological chemistry (01.07.2024)
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Adenosine deaminase deficiency with normal immune function. An acidic enzyme mutation
Daddona, P E, Mitchell, B S, Meuwissen, H J, Davidson, B L, Wilson, J M, Koller, C A
Published in The Journal of clinical investigation (01.08.1983)
Published in The Journal of clinical investigation (01.08.1983)
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Effects of Angiotensin-I-Converting Enzyme (ACE) Mutations Associated with Alzheimer’s Disease on Blood ACE Phenotype
Kryukova, Olga V., Islanov, Igor O., Zaklyazminskaya, Elena V., Korostin, Dmitry O., Belova, Vera A., Cheranev, Valery V., Repinskaia, Zhanna A., Tonevitskaya, Svetlana A., Petukhov, Pavel A., Dudek, Steven M., Kost, Olga A., Rebrikov, Denis V., Danilov, Sergei M.
Published in Biomedicines (01.10.2024)
Published in Biomedicines (01.10.2024)
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Causes of death in mucopolysaccharidoses
Rintz, Estera, Banacki, Marcin, Ziemian, Maja, Kobus, Barbara, Wegrzyn, Grzegorz
Published in Molecular genetics and metabolism (01.07.2024)
Published in Molecular genetics and metabolism (01.07.2024)
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Methylenetetrahydrofolate Reductase Enzyme Mutations and Relationship of Homocysteine Vitamin B12 and Folate Blood Levels
Tuba Günebak Şahin, Berkan Sayal, Erdal Coşgun, Tanju Besler, Sinan Beksaç
Published in Gynecology, obstetrics & reproductive medicine : GORM (01.04.2013)
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Published in Gynecology, obstetrics & reproductive medicine : GORM (01.04.2013)
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Detection of the relationship between clinical features consist of psychopathy levels and MTHFR mutation among subjects with antisocial personality disorder
Basoglu, C, Ozgur Meral, G, Ates, A, Algul, A, Muftuoglu, T, Tutuncu, R, Balibey, H, Ipcioglu, O
Published in European psychiatry (01.03.2016)
Published in European psychiatry (01.03.2016)
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Role of Proline Residues in the Folding of Serine Hydroxymethyltransferase
Fu, Tzu-Fun, Boja, Emily S., Safo, Martin K., Schirch, Verne
Published in The Journal of biological chemistry (15.08.2003)
Published in The Journal of biological chemistry (15.08.2003)
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Metabolism of chylomicron-like emulsions in carriers of the S447X lipoprotein lipase polymorphism
Almeida, Katia A., Schreiber, Roberto, Amâncio, Rosângela F., Bydlowski, Sérgio P., Debes-Bravo, Adriana, Issa, Jacqueline S., Strunz, Célia M.C., Maranhão, Raul C.
Published in Clinica chimica acta (01.09.2003)
Published in Clinica chimica acta (01.09.2003)
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DNA replication / repair is impaired in a temperature-sensitive ubiquitin-activating enzyme mutant of mouse cells, but enhanced mutation frequency is not accompanied-budding yeast mutant rad6-like phenotype
Aoki, F., Sudha, T., Seno, T.
Published in Mutation Research/Environmental Mutagenesis and Related Subjects (01.04.1996)
Published in Mutation Research/Environmental Mutagenesis and Related Subjects (01.04.1996)
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Drug Repurposing and Lysosomal Storage Disorders: A Trick to Treat
Hay Mele, Bruno, Rossetti, Federica, Cubellis, Maria Vittoria, Monticelli, Maria, Andreotti, Giuseppina
Published in Genes (25.02.2024)
Published in Genes (25.02.2024)
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Sphingolipids: From Pathology to Therapeutic Perspectives - A Themed Honorary Issue to Prof. Lina Obeid
Year of Publication 2021
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Rapid Genetic Adaptation during the First Four Months of Survival under Resource Exhaustion
Avrani, Sarit, Bolotin, Evgeni, Katz, Sophia, Hershberg, Ruth
Published in Molecular biology and evolution (01.07.2017)
Published in Molecular biology and evolution (01.07.2017)
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Phosphorylation of Yeast Plasma Membrane H+-ATPase by Casein Kinase I
Estrada, Enrique, Agostinis, Patrizia, Vandenheede, Jackie R., Goris, Jozef, Merlevede, Wilfried, François, Jean, Goffeau, André, Ghislain, Michel
Published in The Journal of biological chemistry (13.12.1996)
Published in The Journal of biological chemistry (13.12.1996)
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The role of the glucuronoxylan carboxyl groups in the action of endoxylanases of three glycoside hydrolase families: A study with two substrate mutants
Biely, P., Malovíková, A., Hirsch, J., Morkeberg Krogh, K.B.R., Ebringerová, A.
Published in Biochimica et biophysica acta (01.11.2015)
Published in Biochimica et biophysica acta (01.11.2015)
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Detection of enzyme mutants with charge alterations in Mus musculus
Pretsch, W., Charles, D.J.
Published in Mutation Research/Environmental Mutagenesis and Related Subjects (01.10.1985)
Published in Mutation Research/Environmental Mutagenesis and Related Subjects (01.10.1985)
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Role of the Hereditary Thrombophilic Abnormalities in Retinal Vein Occlusion
Handan Canan, Ayse Nihal Demircan
Published in Çukurova Üniversitesi tip fakültesi dergisi (01.12.2015)
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Published in Çukurova Üniversitesi tip fakültesi dergisi (01.12.2015)
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Purine Synthesis De Novo in Lymphocytes from Patients with Gout
Gordon, R. B., Counsilman, A. C., Cross, S. M. C., Emmerson, B. T.
Published in Clinical science (1979) (01.11.1982)
Published in Clinical science (1979) (01.11.1982)
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