Works matching Biochemical mutations

Results: 737

Blood glucose and insulin and correlation of SLC25A13 mutations with biochemical changes in NICCD patients.

Published in:

Experimental Biology & Medicine, 2017, v. 242, n. 12, p. 1271, doi. 10.1177/1535370217710918

By:

Lu, Chun-Ting;
Shi, Qi-Ping;
Li, Ze-Jian;
Li, Jiong;
Feng, Lie

Publication type:

Article

Biochemical characterization of two novel mutations in the human high-affinity choline transporter 1 identified in a patient with congenital myasthenic syndrome.

Published in:

Human Molecular Genetics, 2023, v. 32, n. 9, p. 1552, doi. 10.1093/hmg/ddac309

By:

Rizvi, Midhat;
Truong, Tina K;
Zhou, Janet;
Batta, Manav;
Moran, Ellen S;
Pappas, John;
Chu, Mary Lynn;
Caluseriu, Oana;
Evrony, Gilad D;
Leslie, Elaine M;
Cordat, Emmanuelle

Publication type:

Article

Structural and biochemical insights into the V/I505T mutation found in the EIAV gp45 vaccine strain

Published in:

Retrovirology, 2014, v. 11, n. 1, p. 26, doi. 10.1186/1742-4690-11-26

By:

Jiansen Du;
Xuefeng Wang;
Jing Ma;
Jianxin Wang;
Yuyin Qin;
Chunhui Zhu;
Fang Liu;
Yiming Shao;
Jianhua Zhou;
Wentao Qiao;
Xinqi Liu

Publication type:

Article

Some New and Interesting Biochemical Mutations Obtained in Ophiostoma by Selective Enrichment Technique.

Published in:

Physiologia Plantarum, 1952, v. 5, n. 1, p. 130, doi. 10.1111/j.1399-3054.1952.tb08236.x

By:

Wikberg, Eskil;
Fries, Nils

Publication type:

Article

NS5A mutations predict biochemical but not virological response to interferon-α treatment of sporadic hepatitis C virus infection in European patients.

Published in:

Journal of Viral Hepatitis, 2001, v. 8, n. 4, p. 243, doi. 10.1046/j.1365-2893.2001.00294.x

By:

Stratidaki, I.;
Skoulika, E.;
Kelefiotis, D.;
Matrella, E.;
Alexandrakis, G.;
Economou, A.;
Kouroumalis, E.

Publication type:

Article

Patient-Specific iPSC-Derived Neural Differentiated and Hepatocyte-like Cells, Carrying the Compound Heterozygous Mutation p.V1023Sfs*15/p.G992R, Present the "Variant" Biochemical Phenotype of Niemann-Pick Type C1 Disease.

Published in:

International Journal of Molecular Sciences, 2021, v. 22, n. 22, p. 12184, doi. 10.3390/ijms222212184

By:

Völkner, Christin;
Liedtke, Maik;
Untucht, Robert;
Hermann, Andreas;
Frech, Moritz J.

Publication type:

Article

Two New α-Thalassemia Point Mutations that are Undetectable by Biochemical Techniques.

Published in:

Hemoglobin, 2008, v. 32, n. 4, p. 411, doi. 10.1080/03630260802173791

By:

Joly, Philippe;
Pégourié, Brigitte;
Courby, Stéphane;
Barro, Claire;
Besson, Gérard;
Cohen, Laura;
Garcia, Caroline;
Francina, Alain

Publication type:

Article

GCK exonic mutations induce abnormal biochemical activities and result in GCK-MODY.

Published in:

Frontiers in Genetics, 2023, v. 14, p. 1, doi. 10.3389/fgene.2023.1120153

By:

Tongtong Dai;
Yun Yang;
Juanjuan Zhang;
Xiaoyu Ma;
Lifen Chen;
Caiping Zhang;
Sheng Lv;
Lin Li;
Renqiao Tang;
Ni Zhen;
Wenli Lu;
Chuanyin Li;
Ronggui Hu;
Yuan Xiao;
Zhiya Dong

Publication type:

Article

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 5, p. 460, doi. 10.1007/s10038-008-0271-5

By:

Estalella, Itziar;
Garcia-Gimeno, Maria;
Marina, Alberto;
Castaño, Luis;
Sanz, Pascual

Publication type:

Article

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 1, doi. 10.1186/s12881-015-0204-z

By:

Wortham, Noel C.;
Proud, Christopher G.

Publication type:

Article

Biochemical effects of mutations in the gene encoding the alpha subunit of eukaryotic initiation factor (eIF) 2B associated with Vanishing White Matter disease.

Published in:

BMC Medical Genetics, 2015, v. 16, n. 1, p. 64, doi. 10.1186/s12881-015-0204-z

By:

Wortham, Noel C.;
Proud, Christopher G.

Publication type:

Article

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, p. 1431, doi. 10.1093/hmg/10.13.1431

By:

Das, Amit K.;
Jui-Yun Lu;
Hofmann, Sandra L.

Publication type:

Article

Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 13, doi. 10.1093/hmg/10.13.1431

By:

Das, Amit K.

Publication type:

Article

Biochemical and structural analysis of missense mutations in N -acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 9, doi. 10.1093/hmg/9.9.1283

By:

Sukegawa, Kazuko

Publication type:

Article

Identification and Biochemical Characterization of a Novel Mutation in DDX11 Causing Warsaw Breakage Syndrome.

Published in:

Human Mutation, 2013, v. 34, n. 1, p. 103, doi. 10.1002/humu.22226

By:

Capo‐Chichi, José‐Mario;
Bharti, Sanjay Kumar;
Sommers, Joshua A.;
Yammine, Tony;
Chouery, Eliane;
Patry, Lysanne;
Rouleau, Guy A.;
Samuels, Mark E.;
Hamdan, Fadi F.;
Michaud, Jacques L.;
Brosh Jr, Robert M.;
Mégarbane, André;
Kibar, Zoha

Publication type:

Article

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Published in:

Human Mutation, 2012, v. 33, n. 8, p. 1207, doi. 10.1002/humu.22099

By:

Huppke, Peter;
Brendel, Cornelia;
Korenke, Georg Christoph;
Marquardt, Iris;
Donsante, Anthony;
Yi, Ling;
Hicks, Julia D.;
Steinbach, Peter J.;
Wilson, Callum;
Elpeleg, Orly;
Møller, Lisbeth Birk;
Christodoulou, John;
Kaler, Stephen G.;
Gärtner, Jutta

Publication type:

Article

Systematic biochemical analysis of somatic missense mutations in DNA polymerase β found in prostate cancer reveal alteration of enzymatic function.

Published in:

Human Mutation, 2011, v. 32, n. 4, p. 415, doi. 10.1002/humu.21465

By:

Chang Long An;
Desheng Chen;
Makridakis, Nick M.

Publication type:

Article

Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.

Published in:

Human Mutation, 2011, v. 32, n. 2, p. 191, doi. 10.1002/humu.21405

By:

Welti, Stefan;
Kühn, Sonja;
D'Angelo, Igor;
Brügger, Britta;
Kaufmann, Dieter;
Scheffzek, Klaus

Publication type:

Article

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

Published in:

Human Mutation, 2011, v. 32, n. 1, p. 33, doi. 10.1002/humu.21377

By:

Gremer, Lothar;
Merbitz-Zahradnik, Torsten;
Dvorsky, Radovan;
Cirstea, Ion C.;
Kratz, Christian Peter;
Zenker, Martin;
Wittinghofer, Alfred;
Ahmadian, Mohammad Reza

Publication type:

Article

A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia.

Published in:

Human Mutation, 2008, v. 29, n. 4, p. 522, doi. 10.1002/humu.20682

By:

Arnoldi, Alessia;
Tonelli, Alessandra;
Crippa, Francesca;
Villani, Gaetano;
Pacelli, Consiglia;
Sironi, Manuela;
Pozzoli, Uberto;
D'Angelo, Maria Grazia;
Meola, Giovanni;
Martinuzzi, Andrea;
Crimella, Claudia;
Redaelli, Francesca;
Panzeri, Chris;
Renieri, Alessandra;
Comi, Giacomo Pietro;
Turconi, Anna Carla;
Bresolin, Nereo;
Bassi, Maria Teresa

Publication type:

Article

Biotinidase deficiency: Novel mutations and their biochemical and clinical correlates.

Published in:

Human Mutation, 2005, v. 25, n. 4, p. 413, doi. 10.1002/humu.9329

By:

Wolf, Barry;
Jensen, Kevin P.;
Barshop, Bruce;
Blitzer, Miriam;
Carlson, Martha;
Goudie, David R.;
Gokcay, Gulden Huner;
Demirkol, Mubeccel;
Baykal, Tolunay;
Demir, F.;
Quary, Sharon;
Shih, Ling Yu;
Pedro, Helio F.;
Chen, Tsui-hua H.;
Slonim, Alfred E.

Publication type:

Article

Biochemical characterization of two GALK1 mutations in patients with galactokinase deficiency.

Published in:

Human Mutation, 2004, v. 23, n. 4, p. 396, doi. 10.1002/humu.9223

By:

Sangiuolo, Federica;
Magnani, Mauro;
Stambolian, Dwight;
Novelli, Giuseppe

Publication type:

Article

Glycogen storage disease type II: Genetic and biochemical analysis of novel mutations in infantile patients from Turkish ancestry.

Published in:

Human Mutation, 1998, v. 11, n. 3, p. 209, doi. 10.1002/(SICI)1098-1004(1998)11:3<209::AID-HUMU5>3.0.CO;2-C

By:

Hermans, Monique M. P.;
Kroos, Marian A.;
Smeitink, Jan A. M.;
van der Ploeg, Ans T.;
Kleijer, Wim J.;
Reuser, Arnold J. J.

Publication type:

Article

Association between Alzheimer's disease, MAPT gene mutation and some biochemical biomarkers.

Published in:

Nucleosides, Nucleotides & Nucleic Acids, 2024, v. 43, n. 10, p. 1139, doi. 10.1080/15257770.2024.2313573

By:

Sen, Aysenur;
Avsar, Orcun;
Eliacik, Sinan;
Uysal Tan, Funda

Publication type:

Article

Minor Impact of A258D Mutation on Biochemical and Enzymatic Properties of Leishmania infantum GDP-Mannose Pyrophosphorylase.

Published in:

Microorganisms, 2022, v. 10, n. 2, p. N.PAG, doi. 10.3390/microorganisms10020231

By:

Mao, Wei;
Lazar, Noureddine;
van Tilbeurgh, Herman;
Loiseau, Philippe M.;
Pomel, Sébastien

Publication type:

Article

MUTATIONS DURING THE GROWTH OF BIOCHEMICAL MUTANTS OF ESCHERICHIA COLI.

Published in:

Genetics, 1949, v. 34, n. 1, p. 72

By:

RYAN, FRANCIS J.;
SCHNEIDER, LILLIAN K.

Publication type:

Article

Color Mutations Alter the Biochemical Composition in the San Marzano Tomato Fruit.

Published in:

Metabolites (2218-1989), 2020, v. 10, n. 3, p. 110, doi. 10.3390/metabo10030110

By:

Dono, Gabriella;
Rambla, Jose Luis;
Frusciante, Sarah;
Granell, Antonio;
Diretto, Gianfranco;
Mazzucato, Andrea

Publication type:

Article

Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.

Published in:

Nucleic Acids Research, 2011, v. 39, n. 21, p. 9072, doi. 10.1093/nar/gkr618

By:

Euro, Liliya;
Farnum, Gregory A.;
Palin, Eino;
Suomalainen, Anu;
Kaguni, Laurie S.

Publication type:

Article

Clinical, Biochemical, Tumoural and Mutation Profile of VHL- and MEN2A-Associated Pheochromocytoma: A Comparative Study.

Published in:

World Journal of Surgery, 2022, v. 46, n. 3, p. 591, doi. 10.1007/s00268-021-06393-w

By:

Dhanda, Mallika;
Agarwal, Amit;
Mandal, Kausik;
Gupta, Sushil;
Sabaretnam, M.;
Chand, Gyan;
Mishra, Anjali;
Agarwal, Gaurav;
Mishra, Saroj Kanta

Publication type:

Article

Do the Heterozygous Carriers of a CYP24A1 Mutation Display a Different Biochemical Phenotype Than Wild Types?

Published in:

2021

By:

Brancatella, Alessandro;
Cappellani, Daniele;
Kaufmann, Martin;
Borsari, Simona;
Piaggi, Paolo;
Baldinotti, Fulvia;
Caligo, Maria Adelaide;
Jones, Glenville;
Marcocci, Claudio;
Cetani, Filomena

Publication type:

journal article

Investigations on Tomato Anthracnose IV. The Lack of a Correlation between Biochemical Mutations and Virulence in Colletotrichum coccodes (Wallr.) Hugbes.

Published in:

Journal of Phytopathology, 1964, v. 51, n. 2, p. 170, doi. 10.1111/j.1439-0434.1964.tb03422.x

By:

Loprieno, N.;
Guglielminetti, R.;
Michel, E.

Publication type:

Article

Biochemical characterization of four novel mutations in the thyroid hormone receptor β gene in patients with resistance to thyroid hormone.

Published in:

Scandinavian Journal of Clinical & Laboratory Investigation, 2008, v. 68, n. 7, p. 563, doi. 10.1080/00365510701884592

By:

Asadi, B. A.;
Torjesen, P. A.;
Haug, E.;
Berg, J. P.

Publication type:

Article

How do Shp2 mutations that oppositely influence its biochemical activity result in syndromes with overlapping symptoms?

Published in:

Cellular & Molecular Life Sciences, 2007, v. 64, n. 13, p. 1585, doi. 10.1007/s00018-007-6509-0

By:

Edouard, T.;
Montagner, A.;
Dance, M.;
Conte, F.;
Yart, A.;
Parfait, B.;
Tauber, M.;
Salles, J. P.;
Raynal, P.

Publication type:

Article

Biochemical Characterization of SARS‐CoV‐2 Spike RBD Mutations and Their Impact on ACE2 Receptor Binding.

Published in:

FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4678

By:

Hoter, Abdullah;
Naim, Hassan Y.

Publication type:

Article

A cell culture model/mimic to investigate the biochemical consequences of cdkal1 mutations that result in unprocessed, non‐functional insulin and Type 2 Diabetes Mellitus.

Published in:

FASEB Journal, 2021, v. 35, p. N.PAG, doi. 10.1096/fasebj.2021.35.S1.02449

By:

Ramachandran, Sheetal

Publication type:

Article

Structural and biochemical investigation of disease causing mutations in human mitochondrial tRNA<sup>Met</sup>.

Published in:

FASEB Journal, 2007, v. 21, n. 5, p. A279, doi. 10.1096/fasebj.21.5.a279-b

By:

Jones, Christie Nicole;
Spremulli, Linda L.;
Agris, Paul F.

Publication type:

Article

Molecular and biochemical characterisation of a novel mutation in POLG associated with Alpers syndrome.

Published in:

BMC Neurology, 2011, v. 11, n. 1, p. 1, doi. 10.1186/1471-2377-11-4

By:

Schaller, André;
Hahn, Dagmar;
Jackson, Christopher B.;
Kern, Ilse;
Chardot, Christophe;
Belli, Dominique C.;
Gallati, Sabina;
Nuoffer, Jean-Marc

Publication type:

Article

SLC10A1 rs2296651 variant (S267F mutation) predicts biochemical traits, hepatitis B virus infection susceptibility and the risk of gallstone disease.

Published in:

Molecular Genetics & Genomics, 2024, v. 299, n. 1, p. 1, doi. 10.1007/s00438-024-02153-2

By:

Ko, Yu-Lin;
Tuan, Wei-Lun;
Teng, Ming-Sheng;
Su, Wei-Chih;
Wang, Chia‑Chi;
Er, Leay-Kiaw;
Wu, Semon;
Hsu, Lung-An

Publication type:

Article

Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.

Published in:

Nutrients, 2019, v. 11, n. 2, p. 461, doi. 10.3390/nu11020461

By:

Wanes, Dalanda;
Husein, Diab M.;
Naim, Hassan Y.

Publication type:

Article

Biochemical consequences of glucocerebrosidase 1 mutations in Parkinson’s disease.

Published in:

Neural Regeneration Research, 2024, v. 19, n. 4, p. 725, doi. 10.4103/1673-5374.382238

By:

Yoon, Jeong Hyun;
Lee, Chiao-Yin;
Schapira, Anthony HV

Publication type:

Article

Mutation analysis of the LH receptor gene in Leydig cell adenoma and hyperplasia and functional and biochemical studies of activating mutations of the LH receptor gene.

Published in:

2011

By:

Boot, Annemieke M;
Lumbroso, Serge;
Verhoef-Post, Miriam;
Richter-Unruh, Annette;
Looijenga, Leendert H J;
Funaro, Ada;
Beishuizen, Auke;
van Marle, André;
Drop, Stenvert L S;
Themmen, Axel P N

Publication type:

journal article

An Intragenic Suppressor of a Calmodulin Mutation in Paramecium: Genetic and Biochemical Characterization.

Published in:

Genetics, 1991, v. 129, n. 3, p. 717

By:

Hinrichsen, Robert D.;
Pollock, Michael;
Hennessey, Todd;
Russell, Chris

Publication type:

Article

Investigation of the Differences in Antithrombin to Heparin Binding among Antithrombin Budapest 3, Basel, and Padua Mutations by Biochemical and In Silico Methods.

Published in:

Biomolecules (2218-273X), 2021, v. 11, n. 4, p. 544, doi. 10.3390/biom11040544

By:

Gindele, Réka;
Pénzes-Daku, Krisztina;
Balogh, Gábor;
Kállai, Judit;
Bogáti, Réka;
Bécsi, Bálint;
Erdődi, Ferenc;
Katona, Éva;
Bereczky, Zsuzsanna

Publication type:

Article

Biochemical characterization of cardiac α‐actin mutations A21V and D26N implicated in hypertrophic cardiomyopathy.

Published in:

Cytoskeleton, 2024, v. 81, n. 12, p. 815, doi. 10.1002/cm.21852

By:

Greve, Johannes N.;
Schwäbe, Frederic V.;
Taft, Manuel H.;
Manstein, Dietmar J.

Publication type:

Article

A Pediatric Patient with a CYP24A1 Mutation: Four Years of Clinical, Biochemical, and Imaging Follow-Up.

Published in:

Hormone Research in Paediatrics, 2017, v. 87, n. 3, p. 1, doi. 10.1159/000450947

By:

Ertl, Diana-alexandra;
Raimann, adalbert;
Csaicsich, Dagmar;
Patsch, Janina M.;
Laccone, Franco;
Haeusler, Gabriele

Publication type:

Article

Clinical Features of a New Acid-Labile Subunit (IGFALS) Heterozygous Mutation: Anthropometric and Biochemical Characterization and Response to Growth Hormone Administration.

Published in:

Hormone Research in Paediatrics, 2014, v. 81, n. 1, p. 67, doi. 10.1159/000355017

By:

Grandone, anna;
Miraglia del Giudice, Emanuele;
Cirillo, Grazia;
abbondanza, Ciro;
Cioffi, Michele;
Romano, Tiziana;
Micillo, Flora;
Marzuillo, Pierluigi;
Perrone, Laura

Publication type:

Article

Dynamics of HBV DNA Levels, HBV Mutations and Biochemical Parameters during Antiviral Therapy in a Patient with HBeAg-Negative Chronic Hepatitis B.

Published in:

Asian Pacific Journal of Allergy & Immunology, 2007, v. 25, n. 2/3, p. 183

By:

Sa-nguanmoo, Pattaratida;
Tangkijvanich, Pisit;
Payungporn, Sunchai;
Chieochansin, Thaweesak;
Thawornsuk, Nutchanart;
Chongsrisawat, Voranush;
Poovorawan, Yong

Publication type:

Article

Biochemical characterization of naturally occurring mutations in SARS‐CoV‐2 RNA‐dependent RNA polymerase.

Published in:

Protein Science: A Publication of the Protein Society, 2024, v. 33, n. 9, p. 1, doi. 10.1002/pro.5103

By:

Danda, Matěj;
Klimešová, Anna;
Kušková, Klára;
Dostálková, Alžběta;
Pagáčová, Aneta;
Prchal, Jan;
Kapisheva, Marina;
Ruml, Tomáš;
Rumlová, Michaela

Publication type:

Article

BIOCHEMICAL ANALYSIS OF TREM2 DISEASE MUTATIONS.

Published in:

Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2016, v. 12, p. P1149, doi. 10.1016/j.jalz.2016.07.046

By:

Sirkis, Daniel W.;
Aparicio, Renan E.;
Schekman, Randy

Publication type:

Article

P2-191: Neuropathological and biochemical characterization of GRN mutation carriers and GRN conditional mice

Published in:

2008

By:

Wils, Hans;
Kleinberger, Gernot;
Joris, Geert;
Cuijt, Ivy;
Engelborghs, Sebastiaan;
De Deyn, Peter;
Martin, Jean-Jaques;
De Vijlder, Thomas;
Witters, Erwin;
Van Broeckhoven, Christine;
Kumar-Singh, Samir

Publication type:

Abstract