Works matching Biochemical mutations

Results: 730

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

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

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

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 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

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

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

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

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

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

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

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 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

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

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

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

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 characterization of clinically relevant mutations of human Translin.

Published in:

Molecular & Cellular Biochemistry, 2023, v. 478, n. 4, p. 821, doi. 10.1007/s11010-022-04556-4

By:

Pillai, Vinayaki;
Gupta, Alka;
Rao, AVSSN;
Chittela, Rajani Kant

Publication type:

Article

p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

Published in:

Movement Disorders, 2006, v. 21, n. 2, p. 245, doi. 10.1002/mds.20671

By:

Gromadzka, Graznya;
Schmidt, Harmut H.J.;
Genschel, Janine;
Bochow, Bettina;
Rodo, M.;
Tarnacka, Beatek;
Litwin, Thomas;
Chabik, Grzegorz;
Członkowska, Anna

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

Biochemical evidence that an S431F mutation in acetylcholinesterase-1 of Aphis gossypii mediates resistance to pirimicarb and omethoate.

Published in:

Pest Management Science, 2004, v. 60, n. 11, p. 1051, doi. 10.1002/ps.971

By:

Benting, Jürgen;
Nauen, Ralf

Publication type:

Article

A combined biochemical screen and TILLING approach identifies mutations in Sorghum bicolor L. Moench resulting in acyanogenic forage production.

Published in:

Plant Biotechnology Journal, 2012, v. 10, n. 1, p. 54, doi. 10.1111/j.1467-7652.2011.00646.x

By:

Blomstedt, Cecilia K.;
Gleadow, Roslyn M.;
O'Donnell, Natalie;
Naur, Peter;
Jensen, Kenneth;
Laursen, Tomas;
Olsen, Carl Erik;
Stuart, Peter;
Hamill, John D.;
Møller, Birger Lindberg;
Neale, Alan D.

Publication type:

Article

Single Arginine Mutation in Two Yeast Isocitrate Dehydrogenases: Biochemical Characterization and Functional Implication.

Published in:

PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0115025

By:

Song, Ping;
Wei, Huanhuan;
Cao, Zhengyu;
Wang, Peng;
Zhu, Guoping

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

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

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

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

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2148, doi. 10.1093/brain/awh299

By:

P.A. Wilkinson;
A.H. Crosby;
C. Turner;
L.J. Bradley;
L. Ginsberg;
N.W. Wood;
A.H. Schapira;
T.T. Warner

Publication type:

Article

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Published in:

2004

By:

Wilkinson PA;
Crosby AH;
Turner C;
Bradley LJ;
Ginsberg L;
Wood NW;
Schapira AH;
Warner TT

Publication type:

Journal Article

A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia.

Published in:

Brain: A Journal of Neurology, 2004, v. 127, n. 5, p. 973, doi. 10.1093/brain/awh125

By:

Philip A. Wilkinson;
Andrew H. Crosby;
Christopher Turner;
Lloyd J. Bradley;
Lionel Ginsberg;
Nicholas W. Wood;
Anthony H. Schapira;
Thomas T. Warner

Publication type:

Article

Modeling the Biochemical Phenotype of MCT8 Mutations In Vitro : Resolving a Troubling Inconsistency.

Published in:

Endocrinology, 2019, v. 160, n. 6, p. 1536, doi. 10.1210/en.2019-00069

By:

Braun, Doreen;
Reuter, Uschi;
Schweizer, Ulrich

Publication type:

Article

RESPONSE: re: biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.

Published in:

2000

By:

Yarbrough, WG

Publication type:

journal article

Re: Biologic and Biochemical Analyses of p16INK4a Mutations From Primary Tumors.

Published in:: JNCI: Journal of the National Cancer Institute, 2000, v. 92, n. 9, p. 758, doi. 10.1093/jnci/92.9.758A
Publication type:: Article

Biologic and biochemical analyses of p16(INK4a) mutations from primary tumors.

Published in:

1999

By:

Yarbrough, W G;
Buckmire, R A;
Bessho, M;
Liu, E T

Publication type:

journal article

Biologic and Biochemical Analyses of p16[sup INK4a] Mutations From Primary Tumors.

Published in:

JNCI: Journal of the National Cancer Institute, 1999, v. 91, n. 18, p. 1569, doi. 10.1093/jnci/91.18.1569

By:

Yarbrough, Wendell G.;
Buckmire, Robert A.;
Bessho, Mika;
Liu, Edison T.

Publication type:

Article

Imatinib response in two GIST patients carrying two hitherto functionally uncharacterized PDGFRA mutations: An imaging, biochemical and molecular modeling study.

Published in:

International Journal of Cancer, 2011, v. 128, n. 4, p. 983, doi. 10.1002/ijc.25418

By:

Dileo, Palma;
Pricl, Sabrina;
Tamborini, Elena;
Negri, Tiziana;
Stacchiotti, Silvia;
Gronchi, Alessandro;
Posocco, Paola;
Laurini, Erik;
Coco, Paola;
Fumagalli, Elena;
Casali, Paolo G.;
Pilotti, Silvana

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 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