المؤلفون: Vorstman, Jacob AS, Olde Loohuis, Loes M, Kahn, René S, Ophoff, Roel A, Alizadeh, Behrooz Z, Bartels-Velthuis, Agna A, van Beveren, Nico J, Bruggeman, Richard, Cahn, Wiepke, de Haan, Lieuwe, Delespaul, Philippe, Meijer, Carin J, Myin-Germeys, Inez, Schirmbeck, Frederike, Simons, Claudia JP, van Haren, Neeltje E, van Os, Jim, van Winkel, Ruud, van Baaren, Joyce, Veermans, Erwin, Driessen, Ger, Driesen, Truda, Pos, Karin, van ’t Hag, Erna, de Nijs, Jessica, Islam, Atiqul, Beuken, Wendy, Op ’t Eijnde, Debora

المصدر: Human Molecular Genetics. 27(15)

مصطلحات موضوعية: Human Genome, Genetics, Mental Health, Brain Disorders, Schizophrenia, Aetiology, 2.1 Biological and endogenous factors, Mental health, Case-Control Studies, DNA Copy Number Variations, Female, Humans, Male, Phenotype, Point Mutation, Polymorphism, Single Nucleotide, Sequence Deletion, GROUP Investigators, GROUP investigators, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/84s4p72sTest

المؤلفون: Zhang, Ning, Tsybovsky, Yaroslav, Kolesnikov, Alexander, Rozanowska, Malgorzata, Swider, Malgorzata, Schwartz, Sharon, Stone, Edwin, Palczewska, Grazyna, Maeda, Akiko, Kefalov, Vladimir, Jacobson, Samuel, Cideciyan, Artur, Palczewski, Krzysztof

المصدر: Human Molecular Genetics. 24(11)

مصطلحات موضوعية: ATP-Binding Cassette Transporters, Adult, Age of Onset, Animals, COS Cells, Chlorocebus aethiops, Disease Progression, Gene Expression, Genetic Association Studies, HEK293 Cells, Humans, Mice, 129 Strain, Mice, Inbred C57BL, Mice, Knockout, Point Mutation, Protein Folding, Protein Transport, Retinal Degeneration

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/7dk8g9cxTest

المؤلفون: Konstantin Khrapko, Zoe Fleischmann, Maxim Braverman, Markuzon N, Jonathan L. Tilly, Douglass M. Turnbull, Sarah J Pickett, David Stein, Dori C. Woods, Konstantin Popadin, Mark Khrapko, D. Aidlen, Melissa Franco

المصدر: Human Molecular Genetics. 31:4075-4086

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Mitochondrial Diseases, Somatic cell, Point mutation, Mutant, General Medicine, Biology, Human mitochondrial genetics, DNA, Mitochondrial, Germline, Mitochondria, Germ Cells, Mutation (genetic algorithm), Mutation, Humans, Point Mutation, Molecular Biology, Selection (genetic algorithm), Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a839a2f5c569df08360250b0e656a392Test
https://doi.org/10.1093/hmg/ddac149Test

المؤلفون: Andrew J. Newman, Thibaut Imberdis, Nagendran Ramalingam, Dennis J. Selkoe, Saranna Fanning, Tae-Eun Kim, Ulf Dettmer, Arati Tripathi, Lisa Brontesi

المصدر: Human Molecular Genetics

مصطلحات موضوعية: AcademicSubjects/SCI01140, Amyloid, Cytoplasmic inclusion, Biology, Protein Aggregation, Pathological, beta-Synuclein, gamma-Synuclein, Genetics, medicine, Humans, Protein Interaction Domains and Motifs, Amino Acid Sequence, Molecular Biology, Conserved Sequence, Genetics (clinical), Inclusion Bodies, Synucleinopathies, chemistry.chemical_classification, Dementia with Lewy bodies, Point mutation, Gamma-synuclein, Cell Membrane, Neurotoxicity, General Medicine, medicine.disease, Cell biology, Amino acid, Solubility, chemistry, Mutagenesis, alpha-Synuclein, General Article, Protein Multimerization, Protein Binding

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b68a131888ea5880050feaa42030206Test
https://doi.org/10.1093/hmg/ddab188Test

المؤلفون: Aliaksandr A. Yarmishyn, Yu Bai Chou, Shih Jie Chou, Tai Chi Lin, Tien Chun Yang, Shih Hwa Chiou, An Guor Wang, Mong Lien Wang, Shih-Jen Chen, De Kuang Hwang, Wei Kuang Yu, Chih Chien Hsu, Pin Chen Lu, Yi Ping Yang

المصدر: Human Molecular Genetics. 29:1454-1464

مصطلحات موضوعية: Retinal Ganglion Cells, 0301 basic medicine, Mitochondrial DNA, genetic structures, Induced Pluripotent Stem Cells, Mutant, Kinesins, Apoptosis, Optic Atrophy, Hereditary, Leber, Mitochondrion, Biology, medicine.disease_cause, DNA, Mitochondrial, Retinal ganglion, Cell Line, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Point Mutation, Molecular Biology, Genetics (clinical), Mitochondrial transport, Mutation, Electron Transport Complex I, Point mutation, Retinal Degeneration, NADH Dehydrogenase, General Medicine, eye diseases, Acetylcysteine, Mitochondria, Cell biology, Oxidative Stress, 030104 developmental biology, medicine.anatomical_structure, Gene Expression Regulation, Retinal ganglion cell, Reactive Oxygen Species, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7cbc9915e986151d7f65e256e34d7477Test
https://doi.org/10.1093/hmg/ddaa063Test

المؤلفون: Lisa Maria Riedmayr, Sybille Böhm, Martin Biel, Elvir Becirovic

المصدر: Human Molecular Genetics. 29:295-304

مصطلحات موضوعية: Rhodopsin, RNA Splicing, Mutation, Missense, Locus (genetics), Retina, Mice, 03 medical and health sciences, Exon, 0302 clinical medicine, Genetics, Animals, Humans, Missense mutation, Photoreceptor Cells, splice, Molecular Biology, Gene, Genetics (clinical), 030304 developmental biology, 0303 health sciences, biology, Point mutation, General Medicine, HEK293 Cells, RNA splicing, biology.protein, RNA Splice Sites, Retinitis Pigmentosa, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eec9fc6db7016334df7eb52e635115bTest
https://doi.org/10.1093/hmg/ddz291Test

المؤلفون: Veronica Morea, Gianni Colotti, Robert W. Taylor, Annarita Fiorillo, Carla Giordano, Elena Poser, Annalinda Pisano, Arianna Montanari, Elena Perli, Paola Grazioli, Giulia d'Amati, Ilaria Genovese, Helen A. L. Tuppen, Antonio Francesco Campese, Patrizio Di Micco, Carmela Preziuso

المصدر: Human Molecular Genetics
Human molecular genetics
25 (2016): 903–915. doi:10.1093/hmg/ddv619
info:cnr-pdr/source/autori:Perli E, Fiorillo A, Giordano C, Pisano A, Montanari A, Grazioli P, Campese AF, Di Micco P, Tuppen HA, Genovese I, Poser E, Preziuso C, Taylor RW, Morea V, Colotti G, d'Amati G./titolo:Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations./doi:10.1093%2Fhmg%2Fddv619/rivista:Human molecular genetics (Print)/anno:2016/pagina_da:903/pagina_a:915/intervallo_pagine:903–915/volume:25
Europe PubMed Central

مصطلحات موضوعية: 0301 basic medicine, Models, Molecular, RNA, Transfer, Leu, Mutant, Molecular Sequence Data, Gene Expression, Apoptosis, leucyl-tRNA synthetase, mitochondrial tRNA point mutations, Biology, MELAS syndrome, medicine.disease_cause, Protein Structure, Secondary, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, Protein Domains, Cell Line, Tumor, Genetics, medicine, MELAS Syndrome, Humans, Point Mutation, Amino Acid Sequence, Molecular Biology, Peptide sequence, Genetics (clinical), Cell Proliferation, Mutation, Osteoblasts, Point mutation, Leucyl-tRNA synthetase, MERRF syndrome, General Medicine, Articles, medicine.disease, MERRF Syndrome, 3. Good health, Mitochondria, 030104 developmental biology, Phenotype, MELAS, MERRF, leucyl tRNA synthetase, human mitochondrial diseases, mutations, peptides, mt-tRNALys, mt-tRNALeu(UUR), Transfer RNA, RNA, Transfer, Lys, Peptides, Sequence Alignment

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::093c14cb67d014bcd987fa3b56bf3797Test
http://europepmc.org/articles/PMC4754043Test

المؤلفون: Gianluca Lopez, Alessio Di Fonzo, Sara Bonato, Stefania Corti, Alessandra Pittaro, Giacomo P. Comi, Emanuele Frattini, Giacomo Bitetto, Sabrina Salani, Fulvia Milena Cribiù, Dario Ronchi, Andreina Bordoni, Giacomo Monzio Compagnoni, Nereo Bresolin

المصدر: Human molecular genetics. 28(23)

مصطلحات موضوعية: 0301 basic medicine, Central Nervous System, Male, Allgrove Syndrome, Central nervous system, Down-Regulation, Nerve Tissue Proteins, Biology, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Point Mutation, Nuclear membrane, Age of Onset, Molecular Biology, Genetics (clinical), Aged, Cerebellar ataxia, Neurodegeneration, General Medicine, Sequence Analysis, DNA, Motor neuron, Fibroblasts, medicine.disease, Cell biology, Esophageal Achalasia, Nuclear Pore Complex Proteins, Autonomic nervous system, 030104 developmental biology, medicine.anatomical_structure, Amino Acid Substitution, Nucleoporin, medicine.symptom, 030217 neurology & neurosurgery, Adrenal Insufficiency

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::07faba2b82dfad5bdeb2edf2717da9dcTest
https://pubmed.ncbi.nlm.nih.gov/31600784Test

المؤلفون: Dragana Trifunović, Stylianos Michalakis, Christian Schön, Vithiyanjali Sothilingam, Elena Buena-Atienza, Angelique Heckmann, Kangwei Jiao, Marina Garcia Garrido, Sukirthini Balendran, Mathias W. Seeliger, Martin Biel, Bernd Wissinger, Regine Mühlfriedel, Tanja Koepfli, François Paquet-Durand, Ayse Sahaboglu, Susanne C. Beck

المصدر: Human Molecular Genetics. 24:5486-5499

مصطلحات موضوعية: Retinal degeneration, Cell Survival, Biology, Compound heterozygosity, medicine.disease_cause, Retina, Photoreceptor cell, Mice, Retinal Rod Photoreceptor Cells, Locus heterogeneity, Retinitis pigmentosa, Genetics, medicine, Animals, Humans, Point Mutation, Eye Proteins, Molecular Biology, Genetics (clinical), Cyclic Nucleotide Phosphodiesterases, Type 6, Mutation, Calpain, Genetic heterogeneity, Point mutation, General Medicine, medicine.disease, Disease Models, Animal, medicine.anatomical_structure, Caspases, Retinitis Pigmentosa

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b23656dfb30713d922aeb7c52d683aaTest
https://doi.org/10.1093/hmg/ddv275Test

المؤلفون: Taimoor I. Sheikh, Iltaf Ahmed, Tanveer Nasr, M. Qasim Brohi, Kirti Mittal, André Reis, Melissa T. Carter, Rebecca Buchert, Anna Mikhailov, Nasim Vasli, Ute Scheller, Steffen Uebe, John B. Vincent, Muhammad Ayub, Rami Abou Jamra, Muhammad Rafiq, Xinfu Jiao, Heinrich Sticht, Peter John, Muhammad Ayaz, Attya Bhatti, Megerditch Kiledjian, Mi Zhou

المصدر: Human Molecular Genetics. 24:3172-3180

مصطلحات موضوعية: Male, Adolescent, DCPS, Mutation, Missense, Genes, Recessive, Biology, medicine.disease_cause, Polymorphism, Single Nucleotide, Consanguinity, Young Adult, Medizinische Fakultät, Intellectual Disability, Endoribonucleases, Genetics, medicine, Humans, Point Mutation, Protein Isoforms, Missense mutation, RNA, Messenger, ddc:610, RNA Processing, Post-Transcriptional, Child, Molecular Biology, Gene, Genetic Association Studies, Genetics (clinical), Messenger RNA, Mutation, Point mutation, RNA, Articles, General Medicine, Ribonucleoproteins, Small Nuclear, Pedigree, RNA splicing, Female, RNA Splice Sites

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::474355f94bb0a5ccecb733507b0d9326Test
https://doi.org/10.1093/hmg/ddv069Test