نتائج البحث - "New mutation"

1

MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins

المؤلفون: Yi-Heng Zhu, Jian Xu Data, Fang Ge, Dong-Jun Yu, Arif Muhammad, Jiangning Song

المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss, Pp 6400-6416 (2021)
Computational and Structural Biotechnology Journal

مصطلحات موضوعية: Pred-MutHTP, prediction of mutations in human transmembrane proteins, fathmm, functional analysis through hidden markov models, 1000 Genomes, 1000 genomes project consortium, Computer science, SNAP, screening for non-acceptable polymorphisms, Condel, consensus deleteriousness score of missense mutations, ClinVar, clinical variants, medicine.disease_cause, Biochemistry, PROVEAN, protein variation effect analyzer, Structural Biology, Entprise, entropy and predicted protein structure, Feature (machine learning), Missense mutation, SwissVar, variants in UniProtKB/Swiss-Prot, REVEL, rare exome variant ensemble learner, Mutation, Cascade XGBoost, Transmembrane protein, Computer Science Applications, TMSNP, transmembrane single nucleotide polymorphisms, APOGEE, pathogenicity prediction through the logistic model tree, Cascade, New mutation, Research Article, Biotechnology, PolyPhen-2, polymorphism phenotyping v2, Mutation prediction, PredictSNP1, predict single nucleotide polymorphism v1, Biophysics, COSMIC, catalogue of somatic mutations in cancer, Computational biology, SDM, site-directed mutate, Encoding (memory), Classifier (linguistics), Genetics, medicine, ComputingMethodologies_COMPUTERGRAPHICS, PolyPhen, polymorphism phenotyping, Protein evolutionary information, BorodaTM, boosted regression trees for disease-associated mutations in transmembrane proteins, humsavar, human polymorphisms and disease mutations, SIFT, sorting intolerant from tolerant, ExAC, the exome aggregation consortium, WEKA, waikato environment for knowledge analysis, SNP&GO, single nucleotide polymorphisms and gene ontology annotations, Meta-SNP, meta single nucleotide polymorphism, Disease-associated mutations, TP248.13-248.65

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ab4583865fc088881c6f516bb043a13Test
http://www.sciencedirect.com/science/article/pii/S200103702100489XTest

2

A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB

المؤلفون: Hector Vera Cuesta, Laritza Martínez Rey, Tatiana Acosta Sánchez, Deynis Carmenate Naranjo

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20210013, Published: 09 AUG 2021

وصف الملف: text/html

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::002b0539955a481b7aeca343ab3223ebTest
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100505&tlng=enTest

3

The Adrenocortical Dysplasia (acd) Mutation, Chromosome 8

المؤلفون: Wesley G. Beamer, Hope O. Sweet, John P. Sundberg, Seth J. Orlow

مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, integumentary system, Polydactyly, business.industry, Cortical morphology, Chromosome, medicine.disease, medicine.disease_cause, Hyperpigmentation, Dysplasia, New mutation, medicine, medicine.symptom, business, Adrenocortical Insufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d9155715f2bbd074f4f1b0aeff11b94dTest
https://doi.org/10.1201/9781003068952-18Test

4

A new MEFV gene mutation in an Iranian patient with familial Mediterranean fever

المؤلفون: Shirin Farjadian, Giovanni Romeo, Francesco Bonatti, A. Soriano, Claudio Graziano, Antonio Percesepe, Mozhgan Moghtaderi, Michele Reina, Alessia Adorni, Davide Martorana

المصدر: Reumatismo, Vol 71, Iss 2 (2019)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7614f776cb9e7547814c827bd438f0fcTest
https://www.reumatismo.org/index.php/reuma/article/view/1141Test

5

Design of a New [PSI+]-No-More Mutation in SUP35 With Strong Inhibitory Effect on the [PSI+] Prion Propagation

المؤلفون: Lavrentii G. Danilov, Andrew G. Matveenko, Varvara E. Ryzhkova, Mikhail V. Belousov, Olga I. Poleshchuk, Daria V. Likholetova, Petr A. Sokolov, Nina A. Kasyanenko, Andrey V. Kajava, Galina A. Zhouravleva, Stanislav A. Bondarev

المساهمون: Centre de recherche en Biologie Cellulaire (CRBM), Université Montpellier 2 - Sciences et Techniques (UM2)-Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM)-Université Montpellier 1 (UM1), St Petersburg State University (SPbU)

المصدر: Frontiers in Molecular Neuroscience
Frontiers in Molecular Neuroscience, Frontiers Media, 2019, 12, pp.274. ⟨10.3389/fnmol.2019.00274⟩
Frontiers in Molecular Neuroscience, Vol 12 (2019)

مصطلحات موضوعية: 0301 basic medicine, Amyloid, In silico, [SDV]Life Sciences [q-bio], Saccharomyces cerevisiae, macromolecular substances, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, medicine.disease_cause, Fibril, lcsh:RC321-571, prion, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, medicine, Molecular Biology, Inhibitory effect, lcsh:Neurosciences. Biological psychiatry. Neuropsychiatry, ArchCandy, ComputingMilieux_MISCELLANEOUS, chemistry.chemical_classification, Mutation, biology, Chemistry, [PSI+], amyloid, SUP35 mutation, biology.organism_classification, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], Amino acid, 030104 developmental biology, New mutation, Biophysics, 030217 neurology & neurosurgery