X
Search Filters
Format Format
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (24) 24
humans (22) 22
male (11) 11
female (10) 10
animals (9) 9
endocrinology & metabolism (9) 9
mutation (9) 9
child (8) 8
fgf23 (7) 7
pediatrics (7) 7
analysis (6) 6
children (6) 6
electricity (6) 6
fibroblast-growth-factor-23 (6) 6
gene expression (6) 6
mice (6) 6
phosphate (6) 6
bone (5) 5
child, preschool (5) 5
electric communication technique (5) 5
fibroblast growth factors - blood (5) 5
infant (5) 5
adolescent (4) 4
bone and bones - metabolism (4) 4
bone mineral density (4) 4
bones (4) 4
cells (4) 4
collagen (4) 4
fibroblast growth factors (4) 4
fibroblast growth factors - metabolism (4) 4
genetic aspects (4) 4
genetics & heredity (4) 4
hek293 cells (4) 4
hypophosphatemia (4) 4
medicine & public health (4) 4
medicine, research & experimental (4) 4
metabolism (4) 4
middle aged (4) 4
orthopedics (4) 4
proteins (4) 4
transmission of digital information, e.g. telegraphiccommunication (4) 4
vitamin d (4) 4
abridged index medicus (3) 3
achondroplasia (3) 3
adult (3) 3
cell biology (3) 3
chemistry (3) 3
dietary phosphate (3) 3
endocrinology (3) 3
expression (3) 3
genes (3) 3
homeostasis (3) 3
natriuretic peptides (3) 3
osteocytes - metabolism (3) 3
osteogenesis imperfecta (3) 3
parathyroid hormone (3) 3
phosphates (3) 3
physiological aspects (3) 3
research article (3) 3
surgery (3) 3
telephonic communication (3) 3
vitamin d - blood (3) 3
age factors (2) 2
aged (2) 2
alfacalcidol (2) 2
allan-herndon-dudley syndrome (2) 2
animal models (2) 2
anopheles (2) 2
biochemistry & molecular biology (2) 2
bisphosphonate (2) 2
bone dysplasia (2) 2
calcifediol (2) 2
calcification, physiologic - physiology (2) 2
calcium (2) 2
calcium - blood (2) 2
cardiopulmonary bypass - adverse effects (2) 2
case report (2) 2
chondrocytes (2) 2
dentistry (2) 2
disease (2) 2
disease models, animal (2) 2
dna binding proteins (2) 2
dwarfism (2) 2
dysplasia (2) 2
electromigration (2) 2
fgf receptor (2) 2
fgf-23 (2) 2
fibroblast growth factor (2) 2
fibroblast growth factor 23 (2) 2
fibroblast growth factors - genetics (2) 2
gene (2) 2
gene expression regulation (2) 2
genetic research (2) 2
genetics (2) 2
genotype & phenotype (2) 2
guideline (2) 2
health aspects (2) 2
human placental choriocarcinoma cells (2) 2
hypophosphatasia (2) 2
immunohistochemistry (2) 2
more...
Language Language
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


Clinical calcium, ISSN 0917-5857, 2014, Volume 24, Issue 4, pp. 501 - 508
Osteoblasts and osteocytes originate from pluripotent mesenchymal stem cells. Mesenchymal stem cells commit to osteogenic lineage and differentiate into mature... 
Transcription Factors - metabolism | Mesenchymal Stromal Cells - cytology | Osteogenesis - physiology | Animals | Bone and Bones - metabolism | Humans | Signal Transduction - physiology | Cell Differentiation - physiology | Osteogenesis - genetics | Bone and Bones - cytology
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
Journal of Bone and Mineral Metabolism, ISSN 0914-8779, 5/2015, Volume 33, Issue 3, pp. 342 - 354
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, p. e93840
Osteocytes express multiple genes involved in mineral metabolism including PHEX, FGF23, DMP1 and FAM20C. In Hyp mice, a murine model for X-linked... 
IN-VITRO | VITAMIN-D METABOLISM | PHOSPHATE HOMEOSTASIS | X-LINKED HYPOPHOSPHATEMIA | MULTIDISCIPLINARY SCIENCES | PEX GENE | INORGANIC-PHOSPHATE | MINERAL METABOLISM | TARGETED ABLATION | DIETARY PHOSPHATE | FGF23 EXPRESSION | Calcium-Binding Proteins - metabolism | Up-Regulation | Gene Expression | Osteocytes - metabolism | Extracellular Matrix Proteins - genetics | Gene Expression Regulation | Fibroblast Growth Factors - genetics | Hypophosphatemia, Familial - metabolism | Fibroblast Growth Factors - metabolism | Sodium-Phosphate Cotransporter Proteins, Type III - genetics | Animals | Hypophosphatemia, Familial - genetics | Bone and Bones - metabolism | Mice | Sodium-Phosphate Cotransporter Proteins, Type III - metabolism | Osteoblasts - metabolism | Extracellular Matrix Proteins - metabolism | Calcium-Binding Proteins - genetics | Disease Models, Animal | Fibroblast growth factors | Gene expression | Osteoblasts | Analysis | Phosphates | Pediatrics | Fibroblast growth factor | Animal models | Fibroblast growth factor 23 | Pathogenesis | Genes | Gene regulation | Childrens health | Calcitriol | Homeostasis | Osteocytes | Kinases | Maxillofacial surgery | Proteins | Receptors | Pit1 protein | Dihydroxyvitamin D3 | Maternal & child health | Vitamin D | Mineralization | Rodents | Surgery | Fibroblasts | Biocompatibility | Bones | Hypophosphatemia | Growth factors | Genotypes | University graduates | Fibroblast growth factor 2 | Fibroblast growth factor 1 | EGR-1 protein | Fetuses | Dentistry | Metabolism | Mineral metabolism | Signaling | Sodium | Low density lipoprotein receptors | Ligands | Mutation | Transporter | Fibroblast growth factor receptors
Journal Article
Clinical Pediatric Endocrinology, ISSN 0918-5739, 2016, Volume 25, Issue 1, pp. 9 - 17
The serum levels of calcium (Ca) and phosphate are maintained higher in the fetus than in the pregnant mother, especially in late gestation, to meet the... 
phosphate | placenta | calcium | fetus | Fetus | Placenta | Calcium | Phosphate | Review
Journal Article
Clinical calcium, ISSN 0917-5857, 2013, Volume 23, Issue 10, pp. 1421 - 1428
Rickets and osteomalacia are disorders of calcification characterized by defects of bone and cartilage mineralization during growth, and bone mineralization in... 
Fibroblast Growth Factors - blood | Bone and Bones - metabolism | Humans | Rickets - blood | Calcification, Physiologic - physiology | Vitamin D - analogs & derivatives | Practice Guidelines as Topic | Rickets - diagnosis | Vitamin D - blood
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2018, Volume 176, Issue 12, pp. 2882 - 2886
Cole‐Carpenter syndrome is a rare skeletal dysplasia associated with low‐bone mass or an osteogenesis imperfecta (OI)‐like syndrome. Only 3 and 6 variants in... 
osteogenesis imperfecta | SEC24D | Cole‐carpenter syndrome | Cole-carpenter syndrome | COPII | REDUCTION | GENETICS & HEREDITY | OSTEOGENESIS-IMPERFECTA | BASILAR INVAGINATION | MUTATIONS | Hypoplasia | Bone mass | Bone dysplasia | Osteogenesis imperfecta | Skeleton | Bone mineral density | Osteogenesis
Journal Article
Human genome variation, ISSN 2054-345X, 2019, Volume 6, Issue 1, pp. 16 - 4
Basal cell nevus syndrome (BCNS) is a rare, multisystem, autosomal dominant disorder that is characterized by various phenotypes, including multiple basal cell... 
Genotype & phenotype | Genetic counseling | Genes | Genetics | Genomes | Dentistry | Mutation | Patients | Orthodontics
Journal Article
Journal of Bone and Mineral Research, ISSN 0884-0431, 07/2014, Volume 29, Issue 7, pp. 1627 - 1638
ABSTRACT Fibroblast growth factor 23 (FGF23) functions in an endocrine fashion and requires α‐Klotho to exert its effects on the target organs. We have... 
GENETIC ANIMAL MODELS | SYSTEMS BIOLOGY‐BONE INTERACTORS | FGF23 | VITAMIN D | OSTEOMALACIA AND RICKETS | SYSTEMS BIOLOGY-BONE INTERACTORS | KLOTHO | HOMEOSTASIS | HUMAN PLASMA | FIBROBLAST-GROWTH-FACTOR-23 | PEX GENE | TANDEM MASS-SPECTROMETRY | FGF RECEPTOR | PHOSPHATE | LINKED HYPOPHOSPHATEMIC RICKETS | IN-VIVO | ENDOCRINOLOGY & METABOLISM | Vitamin D3 24-Hydroxylase - genetics | Kidney - embryology | Humans | Fetus - metabolism | Glucuronidase - metabolism | 25-Hydroxyvitamin D3 1-alpha-Hydroxylase - genetics | Male | Maternal-Fetal Exchange - genetics | Calcium - blood | Familial Hypophosphatemic Rickets - blood | Familial Hypophosphatemic Rickets - genetics | Kidney - metabolism | Time Factors | Receptors, Fibroblast Growth Factor - genetics | Phosphates - blood | Female | Minerals - metabolism | Maternal-Fetal Exchange - drug effects | Organ Culture Techniques | Vitamin D3 24-Hydroxylase - metabolism | Gene Expression Regulation, Developmental - drug effects | 25-Hydroxyvitamin D3 1-alpha-Hydroxylase - metabolism | Antibodies, Neutralizing - pharmacology | Signal Transduction - genetics | Recombinant Proteins - pharmacology | Vitamin D - blood | Fetus - drug effects | Placenta - drug effects | Placenta - metabolism | Pregnancy | Animals | Glucuronidase - genetics | Signal Transduction - drug effects | Fibroblast Growth Factors - blood | Receptors, Fibroblast Growth Factor - metabolism | Vitamin D - metabolism | Mice | Early Growth Response Protein 1 - metabolism | Vitamin D | Analysis | Cytochrome P-450 | Physiological aspects | Calcifediol | Fibroblast growth factors | Alfacalcidol | Gene expression
Journal Article
Journal Article
Journal Article
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 01/2020, Volume 105, Issue 1, pp. 116 - 125
Abstract Objective IGF2 is a paternally expressed growth-promoting gene. Here, we report five cases with IGF2 mutations and review IGF2 mutation-positive... 
Journal Article
Journal Article