X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
rrm2b (25) 25
index medicus (19) 19
humans (17) 17
cell cycle proteins - genetics (11) 11
ribonucleotide reductases - genetics (11) 11
female (8) 8
cancer (7) 7
cell cycle proteins - metabolism (7) 7
male (7) 7
mitochondrial dna (7) 7
mutation (7) 7
p53r2 (7) 7
ribonucleotide reductases - metabolism (7) 7
article (6) 6
clinical neurology (6) 6
genetics & heredity (6) 6
infant (6) 6
mtdna depletion (6) 6
mutations (6) 6
deficiency (5) 5
dna, mitochondrial - genetics (5) 5
gene (5) 5
genetic aspects (5) 5
muscle, skeletal - pathology (5) 5
pediatrics (5) 5
phenotype (5) 5
research (5) 5
ribonucleotide reductase (5) 5
animals (4) 4
biochemistry & molecular biology (4) 4
child (4) 4
dna mutational analysis (4) 4
dntp pools (4) 4
enzymes (4) 4
mitochondrial-dna depletion (4) 4
muscle, skeletal - metabolism (4) 4
mutation - genetics (4) 4
neurosciences (4) 4
analysis (3) 3
cell biology (3) 3
damage (3) 3
deafness (3) 3
diagnosis (3) 3
disease (3) 3
dna damage (3) 3
dna-damage (3) 3
encephalomyopathy (3) 3
fatal outcome (3) 3
gene deletion (3) 3
gene mutations (3) 3
genetic disorders (3) 3
genotype (3) 3
kinase (3) 3
medical research (3) 3
mitochondria (3) 3
mitochondrial myopathies - genetics (3) 3
mtdna (3) 3
myopathy (3) 3
oncology (3) 3
protein binding (3) 3
seizures (3) 3
tumor proteins (3) 3
tumor suppressor proteins - genetics (3) 3
tumor suppressor proteins - metabolism (3) 3
acute myeloid leukaemia (2) 2
adult (2) 2
base sequence (2) 2
biomarker (2) 2
biophysics (2) 2
biopsy (2) 2
brain - metabolism (2) 2
cell cycle proteins - chemistry (2) 2
cell line, tumor (2) 2
cell proliferation (2) 2
cells (2) 2
cohort studies (2) 2
comparative genomic hybridization (2) 2
cytochrome c (2) 2
deoxyribonucleic acid--dna (2) 2
depletion (2) 2
disorders (2) 2
dna (2) 2
dna repair (2) 2
dna replication (2) 2
dna, mitochondrial - metabolism (2) 2
expression (2) 2
genetic association studies (2) 2
genetic predisposition to disease (2) 2
hematology (2) 2
heterozygote (2) 2
homozygote (2) 2
in situ hybridization, fluorescence (2) 2
in-vitro (2) 2
infant, newborn (2) 2
medicine, experimental (2) 2
medicine, research & experimental (2) 2
mice (2) 2
mitochondrial (2) 2
mitochondrial depletion (2) 2
mitochondrial disease (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Neuropediatrics, ISSN 0174-304X, 12/2017, Volume 48, Issue 6, pp. 456 - 462
Abstract Purpose  To describe the clinical presentation and implications of mitochondrial DNA depletion disorder of two siblings with early fatal... 
Short Communication | elevated lactate | RRM2B gene mutation | seizures | deafness | tubulopathy | hypotonia | gene mutation | ADULTS | CLINICAL NEUROLOGY | RRM2B | GENE | DISEASE | PERIPHERAL NEUROPATHY | PEDIATRICS
Journal Article
British Journal of Haematology, ISSN 0007-1048, 03/2020, Volume 188, Issue 5, pp. 736 - 739
Summary Limited data are available on the incidence and impact of TP53 alterations and TP53 pathway deregulation in paediatric acute myeloid leukaemia (AML).... 
RRM2B | acute myeloid leukaemia | TP53 | HEMATOLOGY | CANCER | P53 | Cytogenetics | Karyotypes | Bone marrow | Mutation | p53 Protein | Leukemia
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 06/2019, Volume 121, pp. 143 - 149
Although hearing loss is a well-known symptom of mitochondria-related disorders, it is not clear how often it is a congenital and cochlear impairment. The... 
Deafness causing genes | Newborn hearing screening program | SERAC1 | RRM2B | Mitochondrial disease | Congenital hearing impairment | Deafness | Medical research | Genetic disorders | Analysis | Genes | Medicine, Experimental | Medical screening
Journal Article
Neuropediatrics, ISSN 0174-304X, 08/2018, Volume 49, Issue 4, pp. 231 - 237
Abstract Objectives  Genotype and phenotype of RRM2B mutation have become increasingly heterogeneous. This review aims at summarizing recent advances... 
Review Article | phenotype | RRM2B | mtDNA | myopathy | mitochondrial | muscle biopsy | genotype | CLINICAL NEUROLOGY | MITOCHONDRIAL-DNA DEPLETION | PERIPHERAL NEUROPATHY | PEDIATRICS | MUTATIONS | GENE DEFECT
Journal Article
British Journal of Haematology, ISSN 0007-1048, 10/2019
Limited data are available on the incidence and impact of TP53 alterations and TP53 pathway deregulation in paediatric acute myeloid leukaemia (AML). We... 
RRM2B | Hematology | acute myeloid leukaemia | TP53
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 8/2012, Volume 109, Issue 33, pp. 13302 - 13307
In postmitotic mammalian cells, protein p53R2 substitutes for protein R2 as a subunit of ribonucleotide reductase. In human patients with mutations in RRM2B,... 
Ribonucleotides | DNA damage | DNA | Cell lines | Fibroblasts | Irradiation | Fluorescence | Mitochondrial DNA | DNA repair | Genetic mutation | Mitochondrial disease | Cell cycle | DNA precursors | dNTP de novo synthesis | cell cycle | MULTIDISCIPLINARY SCIENCES | DEPLETION | mitochondrial disease | DAMAGE | FIBROBLASTS | NUCLEOTIDE EXCISION-REPAIR | STRAND BREAKS | INHIBITION | HISTONE H2AX PHOSPHORYLATION | GENE | RRM2B | MUTATIONS | Hydroxyurea - pharmacology | Fibroblasts - enzymology | DNA Replication - drug effects | Humans | DNA Repair - radiation effects | Ethidium - metabolism | DNA Repair - genetics | Fluorometry | Protein Subunits - metabolism | DNA, Mitochondrial - genetics | Ultraviolet Rays | Mitochondria - genetics | DNA Replication - radiation effects | Nucleotides - pharmacology | Mitochondria - radiation effects | Phosphorylation - drug effects | Nucleic Acid Conformation | Mammals - metabolism | DNA Repair - drug effects | Cell Cycle Proteins - metabolism | Mitochondria - drug effects | Fibroblasts - pathology | Mutation - genetics | Phosphorylation - radiation effects | Animals | Fibroblasts - radiation effects | Fibroblasts - drug effects | Ribonucleotide Reductases - metabolism | DNA Replication - genetics | Histones - metabolism | Hydroxyurea - metabolism | DNA replication | Physiological aspects | Research | Health aspects | Biological Sciences
Journal Article
Molecular Cell, ISSN 1097-2765, 04/2017, Volume 66, Issue 2, pp. 206 - 220.e9
Cells exposed to hypoxia experience replication stress but do not accumulate DNA damage, suggesting sustained DNA replication. Ribonucleotide reductase (RNR)... 
hypoxia | replication stress | RRM2B | DNA damage response | RNR | radiosensitivity | nucleotides | P53 | GENOMIC INSTABILITY | COLON-CANCER | IN-VITRO | DAMAGE RESPONSE | CANCER DEVELOPMENT | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENE-EXPRESSION | PHASE-II | CELL-CYCLE | MOLECULAR-DYNAMICS SIMULATIONS | FREE-ENERGY | CELL BIOLOGY | Colonic Neoplasms - radiotherapy | Colonic Neoplasms - genetics | Ribonucleotide Reductases - chemistry | Humans | Radiation Tolerance | Oxygen - metabolism | Cell Cycle Proteins - chemistry | Tumor Hypoxia | DNA, Neoplasm - biosynthesis | Transfection | RNA Interference | Time Factors | Tumor Suppressor Proteins - chemistry | Tumor Suppressor Proteins - genetics | Cell Cycle Proteins - genetics | Female | Ribonucleoside Diphosphate Reductase - metabolism | Tumor Suppressor Proteins - metabolism | HCT116 Cells | Cell Cycle Proteins - metabolism | DNA Replication | Tumor Burden | Xenograft Model Antitumor Assays | Animals | Mice, Nude | Colonic Neoplasms - pathology | Ribonucleotide Reductases - metabolism | Colonic Neoplasms - enzymology | Mice, Inbred BALB C | Ribonucleotide Reductases - genetics | DNA Damage | DNA, Neoplasm - genetics | Apoptosis | Medicine, Experimental | Enzymes | Medical research | DNA replication | Research institutes | DNA | Analysis | Nucleotides | Tumor proteins | DNA repair
Journal Article
Brain, ISSN 0006-8950, 2012, Volume 135, Issue 11, pp. 3392 - 3403
Journal Article
BBA - Molecular Basis of Disease, ISSN 0925-4439, 12/2009, Volume 1792, Issue 12, pp. 1109 - 1112
These tables list both published and a number of unpublished mutations in genes associated with early onset defects in mitochondrial DNA (mtDNA) maintenance... 
DGUOK | SUCLA2 | RRM2B | mtDNA | C10orf2 | mtDNA depletion | SUCLG1 | TK2 | MPV17 | TYMP | RESPIRATORY-CHAIN | THYMIDINE PHOSPHORYLASE GENE | DEOXYGUANOSINE KINASE GENE | BIOCHEMISTRY & MOLECULAR BIOLOGY | ECGF1 MUTATION | MPV17 GENE | BIOPHYSICS | TK2 GENE | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE | HEPATOCEREBRAL FORM | SUCLA2 MUTATIONS | PATIENT | Neurosciences | Anopheles | Mitochondrial DNA | Genetic aspects
Journal Article
Journal Article