X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
humans (35) 35
animals (33) 33
index medicus (27) 27
limb deformities, congenital - enzymology (24) 24
limb deformities, congenital - genetics (24) 24
female (22) 22
mice (22) 22
male (17) 17
mutation (15) 15
genetics & heredity (11) 11
limb deformities, congenital (11) 11
limb deformities, congenital - pathology (11) 11
developmental biology (10) 10
cell biology (9) 9
pregnancy (9) 9
biochemistry & molecular biology (8) 8
phenotype (8) 8
cell differentiation (7) 7
gene expression (7) 7
genetic disorders (7) 7
genetics (7) 7
mice, knockout (7) 7
abnormalities, multiple - enzymology (6) 6
base sequence (6) 6
genetic aspects (6) 6
infant, newborn (6) 6
molecular sequence data (6) 6
abnormalities, multiple - genetics (5) 5
child (5) 5
expression (5) 5
gene expression regulation, developmental (5) 5
medicine (5) 5
mutations (5) 5
pedigree (5) 5
physiological aspects (5) 5
research (5) 5
signal transduction (5) 5
amino acid sequence (4) 4
article (4) 4
bone and bones - abnormalities (4) 4
bone diseases, developmental - enzymology (4) 4
cells, cultured (4) 4
differentiation (4) 4
enzymes (4) 4
extremities - embryology (4) 4
fibroblasts (4) 4
gene (4) 4
genes (4) 4
infant (4) 4
limb deformities, congenital - chemically induced (4) 4
osteogenesis (4) 4
oxidoreductases acting on ch-ch group donors - metabolism (4) 4
proteins (4) 4
research article (4) 4
retinoic acid (4) 4
abnormalities, multiple - metabolism (3) 3
adolescent (3) 3
anal canal - abnormalities (3) 3
apoptosis - drug effects (3) 3
biology (3) 3
bone and bones - enzymology (3) 3
bone diseases, developmental - genetics (3) 3
cancer (3) 3
cartilage (3) 3
caspases - metabolism (3) 3
chick embryo (3) 3
child, preschool (3) 3
chondrocytes - enzymology (3) 3
congenital diseases (3) 3
defects (3) 3
deficiency (3) 3
diagnosis (3) 3
disease (3) 3
dna mutational analysis (3) 3
dysplasia (3) 3
ectodermal dysplasia - genetics (3) 3
enzyme activation (3) 3
enzymology (3) 3
gene mutations (3) 3
gene targeting (3) 3
genomics (3) 3
glycosylation (3) 3
homeodomain proteins - genetics (3) 3
homozygote (3) 3
identification (3) 3
immunohistochemistry (3) 3
intellectual disability (3) 3
intellectual disability - genetics (3) 3
intercellular signaling peptides and proteins - metabolism (3) 3
limb buds - enzymology (3) 3
limb deformities, congenital - diagnosis (3) 3
limb deformities, congenital - metabolism (3) 3
limb development (3) 3
liver - enzymology (3) 3
mandibulofacial dysostosis - enzymology (3) 3
mandibulofacial dysostosis - genetics (3) 3
metabolism (3) 3
micrognathism - enzymology (3) 3
morphogenesis (3) 3
mouse (3) 3
more...
Library Location Library Location
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Journal of Medical Genetics, ISSN 0022-2593, 09/2013, Volume 50, Issue 9, pp. 585 - 592
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 11/2009, Volume 29, Issue 21, pp. 5843 - 5857
Journal Article
Cancer Letters, ISSN 0304-3835, 01/2018, Volume 413, pp. 1 - 10
Human RecQ helicases that share homology with RecQ helicase play critical roles in diverse biological activities such as DNA replication, transcription,... 
Premature aging syndromes | Aneuploidy | DNA replication | RecQ helicases | Mitotic checkpoint | Cancer | OXIDATIVE STRESS | MCM PROTEINS | SYNDROME GENE-PRODUCT | DNA-DAMAGE | RAPADILINO SYNDROME | P53 | REPAIR | ONCOLOGY | ROTHMUND-THOMSON-SYNDROME | EXPRESSION | BALLER-GEROLD-SYNDROME | Limb Deformities, Congenital - enzymology | Genomic Instability | Limb Deformities, Congenital - genetics | Cell Proliferation | RecQ Helicases - metabolism | Humans | Rothmund-Thomson Syndrome - enzymology | Craniosynostoses - enzymology | RecQ Helicases - genetics | Antineoplastic Agents - therapeutic use | DNA, Mitochondrial - genetics | Neoplasms - genetics | Cell Transformation, Neoplastic - genetics | Patella - abnormalities | Biomarkers, Tumor - metabolism | Heart Septal Defects, Atrial - genetics | Anal Canal - enzymology | Patella - enzymology | Biomarkers, Tumor - antagonists & inhibitors | Heart Septal Defects, Atrial - enzymology | Genetic Predisposition to Disease | DNA, Mitochondrial - metabolism | Craniosynostoses - genetics | Neoplasms - enzymology | DNA Replication | Radius - abnormalities | Cell Transformation, Neoplastic - metabolism | Enzyme Inhibitors - therapeutic use | Neoplasms - drug therapy | Anal Canal - abnormalities | Rothmund-Thomson Syndrome - genetics | Dwarfism - genetics | Phenotype | Radius - enzymology | RecQ Helicases - antagonists & inhibitors | DNA Repair | Dwarfism - enzymology | Biomarkers, Tumor - genetics | Mutation | Cell Transformation, Neoplastic - pathology | Neoplasms - pathology | Medical research | Genomics | Cancer cells | Medicine, Experimental | Genetic aspects | Disease susceptibility | Genetic transcription | Recombination | Transcription | DNA damage | Homology | Rothmund-Thomson syndrome | Inactivation | Carcinogenesis | DNA helicase | Proteins | Carcinogens | Aging | Deoxyribonucleic acid--DNA | Stability | Deactivation | Gene expression | Patients | RecQ protein | Cells | DNA biosynthesis | Bone cancer | Bloom's syndrome | Werner's syndrome | Lymphomas | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 08/2012, Volume 7, Issue 8, p. e42180
We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene... 
ENDOCHONDRAL OSSIFICATION | OVEREXPRESSION | TRANSLOCATION | NPPC | PATHWAY | ROLES | MULTIDISCIPLINARY SCIENCES | MOUSE | CYCLASE-B RECEPTOR | DWARFISM | CARTILAGE | Limb Deformities, Congenital - enzymology | Chondrocytes - pathology | Limb Deformities, Congenital - genetics | Gene Expression | Growth Disorders - pathology | Receptors, Atrial Natriuretic Factor - metabolism | Humans | Male | Mice, Transgenic | Fingers - pathology | Mutation, Missense | Chondrocytes - enzymology | Animals | Cyclic GMP | Adolescent | Growth Disorders - enzymology | HEK293 Cells | Receptors, Atrial Natriuretic Factor - genetics | Mice | Fingers - abnormalities | Growth Disorders - genetics | Amino Acid Substitution | DNA, Complementary | Limb Deformities, Congenital - pathology | Scoliosis | Genes | Therapeutics | Genetic aspects | Comparative analysis | Cyclic guanylic acid | Natriuretic peptides | Homeopathy | Materia medica and therapeutics | Pediatrics | Peptides | Guanosine | Atrial natriuretic peptide | Kinases | Cartilage | Genotype & phenotype | Maternal & child health | Transgenic animals | Collagen (type XI) | Rodents | Fingers & toes | Bones | Height | Elongation | Age | University graduates | Phenotypes | Medical treatment | Transgenic mice | Gene expression | Patients | Medicine | Fractures | Orthopedics | Collagen | Chondrocytes | Mutation
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 03/2014, Volume 22, Issue 3, pp. 374 - 378
Journal Article
MOLECULAR AND CELLULAR BIOLOGY, ISSN 0270-7306, 01/2008, Volume 28, Issue 2, pp. 529 - 538
Thalidomide, a drug used for the treatment of multiple myeloma and inflammatory diseases, is also a teratogen that causes birth defects, such as limb... 
SURVIVAL | TRANSLOCATION | KAPPA-B ACTIVATION | SIGNALING PATHWAYS | PROTEIN-KINASE-B | INDUCED APOPTOSIS | BIOCHEMISTRY & MOLECULAR BIOLOGY | INHIBITORS | INSULIN-RECEPTOR SUBSTRATE-1 | EXPRESSION | CARCINOMA | CELL BIOLOGY | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 09/2012, Volume 21, Issue 18, pp. 3969 - 3983
Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo pyrimidine biosynthesis, have been... 
DIHYDROOROTATE-DEHYDROGENASE | GENE | PHOSPHORYLATION | CLONING | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | TERATOGENICITY | MUTATIONS | LEFLUNOMIDE | SYNDROME TYPE RODRIGUEZ | PRENATAL-DIAGNOSIS | ROBIN-SEQUENCE | Limb Deformities, Congenital - enzymology | Limb Buds - pathology | Limb Deformities, Congenital - genetics | Mandibulofacial Dysostosis - urine | Schizosaccharomyces - growth & development | Humans | Child, Preschool | Micrognathism - enzymology | Multienzyme Complexes - metabolism | Infant | Male | Mutation, Missense | Genetic Complementation Test | Embryo, Mammalian - metabolism | Oxidoreductases Acting on CH-CH Group Donors - deficiency | Schizosaccharomyces - genetics | Mandibulofacial Dysostosis - genetics | Reference Standards | Micrognathism - urine | DNA Mutational Analysis | Gene Expression Regulation, Developmental | Base Sequence | Limb Deformities, Congenital - urine | Mandibulofacial Dysostosis - enzymology | Orotate Phosphoribosyltransferase - metabolism | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Abnormalities, Multiple - genetics | Orotidine-5'-Phosphate Decarboxylase - metabolism | Orotic Acid - analogs & derivatives | Embryo, Mammalian - pathology | Schizosaccharomyces pombe Proteins - genetics | Genetic Association Studies | Abnormalities, Multiple - urine | Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) - metabolism | Micrognathism - genetics | Orotate Phosphoribosyltransferase - genetics | Multienzyme Complexes - genetics | Carbamoyl-Phosphate Synthase (Glutamine-Hydrolyzing) - genetics | Oxidoreductases Acting on CH-CH Group Donors - metabolism | Orotidine-5'-Phosphate Decarboxylase - genetics | Animals | Limb Buds - metabolism | Pedigree | Abnormalities, Multiple - enzymology | Mice | Gas Chromatography-Mass Spectrometry - standards | Orotic Acid - urine | Complementation
Journal Article
Molecular and Cellular Biology, ISSN 0270-7306, 05/2009, Volume 29, Issue 10, pp. 2716 - 2729
Journal Article
European Journal of Oral Sciences, ISSN 0909-8836, 2016, Volume 124, Issue 3, pp. 241 - 245
Journal Article
Bioscience Reports, ISSN 0144-8463, 12/2012, Volume 32, Issue 6, pp. 631 - 639
Miller syndrome is a recessive inherited disorder characterized by postaxial acrofacial dysostosis. It is caused by dysfunction of the DHODH (dihydroorotate... 
Mitochondrion | Miller syndrome | Protein stability | Dihydro-orotate dehydrogenase (DHODH) | Missense mutation | MITOCHONDRIAL-DNA MUTATIONS | METHOTREXATE | protein stability | missense mutation | mitochondrion | CELL BIOLOGY | SYNTHASE | GENE | BIOSYNTHESIS | DISEASE | dihydro-orotate dehydrogenase (DHODH) | NEURAL CREST | INHIBITOR | LEFLUNOMIDE | Abnormalities, Multiple - metabolism | Limb Deformities, Congenital - enzymology | Limb Deformities, Congenital - genetics | Mitochondria - enzymology | Electron Transport Complex III - metabolism | Humans | Micrognathism - genetics | Limb Deformities, Congenital - metabolism | Micrognathism - enzymology | Ubiquinone - metabolism | Mitochondria - metabolism | Mutation, Missense | Oxidoreductases Acting on CH-CH Group Donors - metabolism | Micrognathism - metabolism | Mandibulofacial Dysostosis - genetics | Oxidoreductases Acting on CH-CH Group Donors - analysis | Mandibulofacial Dysostosis - enzymology | Abnormalities, Multiple - enzymology | Oxidoreductases Acting on CH-CH Group Donors - genetics | Succinate Dehydrogenase - metabolism | HeLa Cells | Mandibulofacial Dysostosis - metabolism | Protein Stability | Abnormalities, Multiple - genetics | anti-HA, anti-haemagglutinin | DCPIP, dichlorophenolindophenol | LFN, leflunomide | UMPS, UMP synthase | CHX, cycloheximide | DHODH-HA, DHODH with a C-terminal HA tag | FBS, fetal bovine serum | Original Paper | DHFR, dihydrofolate reductase | DHO, dihydroorotate | DOX, doxycycline | DMEM, Dulbecco’s modified Eagle’s medium | OXPHOS, oxidative phosphorylation | DHODH, dihydro-orotate dehydrogenase | TFAM, mitochondrial transcription factor A
Journal Article