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by Duan, X and Yang, S and Zhang, H and Wu, J and Zhang, Y and Ji, D and Tie, L and Boerkoel, C.F
Journal of Dental Research, ISSN 0022-0345, 7/2019, Volume 98, Issue 8, pp. 870 - 878
Amelogenesis imperfecta (AI) is a group of genetic disorders of defective dental enamel. Mutation of AMELX encoding amelogenin on the X chromosome is a major... 
ultrastrure | exome analysis | lyonization | amelogenin | heterogeneity | amelogenesis imperfecta | DEFECTS | GENOTYPE | LINKED AMELOGENESIS IMPERFECTA | MOUSE | DELETION | GENE | DENTISTRY, ORAL SURGERY & MEDICINE | EXPRESSION
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2015, Volume 93, Issue S255, p. n/a
To discover the reason behind two sisters being born blind with retinal detachment and microphthalmia with later findings of severe osteoporosis with low... 
OPHTHALMOLOGY | Osteoporosis | Genetic aspects | Genetic disorders | Genes | Blindness
Journal Article
Journal Article
Nature communications, ISSN 2041-1723, 2014, Volume 5, Issue 1, pp. 3251 - 3251
Journal Article
CLINICAL JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, ISSN 1555-9041, 04/2013, Volume 8, Issue 4, pp. 649 - 657
Background and objectives Elevated serum vitamin D with hypercalciuria can result in nephrocalcinosis and nephrolithiasis. This study evaluated the cause of... 
VITAMIN-D | SUBSTRATE-BINDING | METABOLISM | UNDIAGNOSED DISEASES | HUMAN CYP27A1 | UROLOGY & NEPHROLOGY | NEPHROCALCINOSIS | IDIOPATHIC INFANTILE HYPERCALCEMIA | KIDNEY-STONES | STONE DISEASE | INSIGHTS
Journal Article
PLoS Genetics, ISSN 1553-7390, 02/2017, Volume 13, Issue 2, pp. e1006481 - e1006481
Journal Article
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, ISSN 1552-4825, 12/2017, Volume 173, Issue 12, pp. 3172 - 3181
Journal Article
Nature Communications, ISSN 2041-1723, 12/2017, Volume 8, Issue 1, pp. 1257 - 15
Polyamines are tightly regulated polycations that are essential for life. Loss-of-function mutations in spermine synthase (SMS), a polyamine biosynthesis... 
STORAGE | MENTAL-RETARDATION | DROSOPHILA-MELANOGASTER | MULTIDISCIPLINARY SCIENCES | MISSENSE MUTATION | ALDEHYDE LOAD | POLYAMINE CATABOLISM | AUTOPHAGY | CEREBRAL-ISCHEMIA | MOUSE MODELS | BRAIN | Reactive Oxygen Species - metabolism | Humans | Spermidine - metabolism | Electron Transport Complex IV - metabolism | Brain - metabolism | Retinal Neurons - ultrastructure | Mental Retardation, X-Linked - genetics | Spermine Synthase - metabolism | Lysosomes - metabolism | Brain - ultrastructure | Spermine Synthase - deficiency | Autophagy - genetics | Retinal Neurons - drug effects | Disease Models, Animal | Electroretinography | Microscopy, Electron, Transmission | Synapses - drug effects | Animals, Genetically Modified | Oxidative Stress - genetics | Survival Rate | Synapses - ultrastructure | Antioxidants - pharmacology | Polyamines - metabolism | Brain - drug effects | Animals | Spermine Synthase - genetics | Drosophila Proteins - genetics | Drosophila melanogaster | Mental Retardation, X-Linked - metabolism | Neuropathogenesis | Oxidative stress | Intellectual disabilities | Nervous system | Biosynthesis | Polyamines | Defects | Antioxidants | Mitochondria | Metabolites | Polycations | Spermidine | Spermine synthase | Degeneration | Stresses | Drosophila | Pharmacology | Metabolism | Stress | Neurological diseases | Spermine | Insects | Catabolism | Mutation | Phagocytosis | Autophagy | Therapeutic applications | Index Medicus
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2015, Volume 93, Issue S255
  Purpose To discover the reason behind two sisters being born blind with retinal detachment and microphthalmia with later findings of severe osteoporosis with... 
Osteoporosis | Blindness
Journal Article
Acta Ophthalmologica, ISSN 1755-375X, 10/2015, Volume 93, p. n/a
Journal Article