Works matching Biochemical mutations

Results: 723

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

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

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

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

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

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

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

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

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

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

Biochemical Mutations in the Crucifer Arabidopsis thaliana (L.) Heynh.

Published in:

Nature, 1955, v. 176, n. 4475, p. 260, doi. 10.1038/176260b0

By:

LANGRIDGE, 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

Biochemical features of ceruloplasmin gene mutations linked to aceruloplasminemia.

Published in:

NeuroMolecular Medicine, 2006, v. 8, n. 3, p. 361, doi. 10.1385/NMM:8:3:361

By:

Kono, Satoshi;
Suzuki, Hitoshi;
Oda, Toshiaki;
Miyajima, Hiroaki;
Takahashi, Yoshitomo;
Shirakawa, Kentaro;
Ishikawa, Kuniko;
Kitagawa, Masatoshi

Publication type:

Article

Molecular and biochemical characterization of an induced mutation conferring imidazolinone resistance in sunflower.

Published in:

Theoretical & Applied Genetics, 2008, v. 118, n. 1, p. 105, doi. 10.1007/s00122-008-0880-6

By:

Sala, Carlos A.;
Bulos, Mariano;
Echarte, Mariel;
Whitt, Sherry R.;
Ascenzi, Robert

Publication type:

Article

Biochemical and Bioinformatic Studies of Mutations of Residues at the Monomer–Monomer Interface of Human Ornithine Aminotransferase Leading to Gyrate Atrophy of Choroid and Retina.

Published in:

International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3369, doi. 10.3390/ijms24043369

By:

Floriani, Fulvio;
Borri Voltattorni, Carla;
Cellini, Barbara;
Montioli, Riccardo

Publication type:

Article

Structural and biochemical consequences of pyridoxine‐dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1.

Published in:

FEBS Journal, 2020, v. 287, n. 1, p. 173, doi. 10.1111/febs.14997

By:

Laciak, Adrian R.;
Korasick, David A.;
Wyatt, Jesse W.;
Gates, Kent S.;
Tanner, John J.

Publication type:

Article

Parkinsonism due to A53E α-synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features.

Published in:

2018

By:

Picillo, Marina;
Lizarraga, Karlo J.;
Friesen, Erik L.;
Chau, Hien;
Zhang, Ming;
Sato, Christine;
Rooke, Grace;
Munhoz, Renato P.;
Rogaeva, Ekaterina;
Fraser, Paul E.;
Kalia, Suneil K.;
Kalia, Lorraine V.

Publication type:

journal 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 and biochemical characterization of four patients with mutations in ECHS1.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0290-1

By:

Ferdinandusse, Sacha;
Friederich, Marisa W.;
Burlina, Alberto;
Ruiter, Jos P. N.;
Coughlin II, Curtis R.;
Dishop, Megan K.;
Gallagher, Renata C.;
Bedoyan, Jirair K.;
Vaz, Frédéric M.;
Waterham, Hans R.;
Gowan, Katherine;
Chatfield, Kathryn;
Bloom, Kaitlyn;
Bennett, Michael J.;
Elpeleg, Orly;
Van Hove, Johan L. K.;
Wanders, Ronald J. A.

Publication type:

Article

Clinical and biochemical characterization of four patients with mutations in ECHS1

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 79, doi. 10.1186/s13023-015-0290-1

By:

Ferdinandusse, Sacha;
Friederich, Marisa W.;
Burlina, Alberto;
Ruiter, Jos P. N.;
Coughlin II, Curtis R.;
Dishop, Megan K.;
Gallagher, Renata C.;
Bedoyan, Jirair K.;
Vaz, Frédéric M.;
Waterham, Hans R.;
Gowan, Katherine;
Chatfield, Kathryn;
Bloom, Kaitlyn;
Bennett, Michael J.;
Elpeleg, Orly;
Van Hove, Johan L. K.;
Wanders, Ronald J. A.

Publication type:

Article

Clinical and biochemical characterization of four patients with mutations in ECHS1.

Published in:

2015

By:

Ferdinandusse, Sacha;
Friederich, Marisa W;
Burlina, Alberto;
Ruiter, Jos P N;
Coughlin 2nd, Curtis R;
Dishop, Megan K;
Gallagher, Renata C;
Bedoyan, Jirair K;
Vaz, Frédéric M;
Waterham, Hans R;
Gowan, Katherine;
Chatfield, Kathryn;
Bloom, Kaitlyn;
Bennett, Michael J;
Elpeleg, Orly;
Van Hove, Johan L K;
Wanders, Ronald J A;
Coughlin, Curtis R 2nd

Publication type:

journal 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

Identification and biochemical characterization of the novel mutation m. 8839G>C in the mitochondrial ATP6 gene associated with NARP syndrome.

Published in:

Genes, Brain & Behavior, 2013, v. 12, n. 8, p. 812, doi. 10.1111/gbb.12089

By:

Blanco‐Grau, A.;
Bonaventura‐Ibars, I.;
Coll‐Cantí, J.;
Melià, M. J.;
Martinez, R.;
Martínez‐Gallo, M.;
Andreu, A. L.;
Pinós, T.;
García‐Arumí, E.

Publication type:

Article

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein.

Published in:

Biomedicines, 2024, v. 12, n. 5, p. 929, doi. 10.3390/biomedicines12050929

By:

Al-Sadeq, Duaa W.;
Thanassoulas, Angelos;
Theodoridou, Maria;
Nasrallah, Gheyath K.;
Nomikos, Michail

Publication type:

Article

DEVELOPMENTAL AND BIOCHEMICAL EFFECTS OF THE AGROPYROIDES MUTATION IN BARLEY.

Published in:

Genetics, 1964, v. 50, n. 1, p. 65

By:

WIJEWANTHA, R. T.;
STEBBINS, G. L.

Publication type:

Article

SOME BIOCHEMICAL FACTORS IN X-RAY-INDUCED MUTATION IN BACTERIA.

Published in:

Genetics, 1961, v. 46, n. 6, p. 683

By:

KADA, TSUNEO;
DOUDNEY, C. O.;
HAAS, F. L.

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

An unusual late-onset case of propionic acidaemia: biochemical investigations, neuroradiological findings and mutation analysis.

Published in:

1998

By:

Pérez-Cerdá, C.;
Merinero, B.;
Martí, M.;
Cabrera, J. C.;
Peña, L.;
García, M. J.;
Gangoiti, J.;
Sanz, P.;
Rodríguez-Pombo, P.;
Hoenicka, J.;
Richard, E.;
Muro, S.;
Ugarte, M.

Publication type:

journal 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

Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.

Published in:

Journal of Muscle Research & Cell Motility, 2014, v. 35, n. 2, p. 161, doi. 10.1007/s10974-014-9382-0

By:

Kalyva, Athanasia;
Parthenakis, Fragiskos;
Marketou, Maria;
Kontaraki, Joanna;
Vardas, Panos

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

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

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

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

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