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mandibuloacral dysplasia (158) 158
humans (112) 112
index medicus (75) 75
mutation (63) 63
lamin type a - genetics (56) 56
genetics & heredity (49) 49
lamin a/c (48) 48
progeria - genetics (43) 43
familial partial lipodystrophy (42) 42
female (40) 40
hutchinson-gilford-progeria (38) 38
male (38) 38
zmpste24 (38) 38
phenotype (37) 37
progeria (36) 36
cell biology (35) 35
dreifuss muscular-dystrophy (35) 35
lmna (35) 35
restrictive dermopathy (34) 34
membrane proteins - genetics (32) 32
nuclear-envelope (31) 31
animals (30) 30
integumentary system (30) 30
biochemistry & molecular biology (29) 29
laminopathies (28) 28
lipodystrophy (28) 28
adult (26) 26
lamin a (24) 24
prelamin-a (24) 24
congenital, hereditary, and neonatal diseases and abnormalities (23) 23
dilated cardiomyopathy (22) 22
lipodystrophy - genetics (22) 22
genetic aspects (21) 21
hutchinson-gilford progeria (21) 21
lamin type a - metabolism (21) 21
mandible - abnormalities (21) 21
nuclear proteins - metabolism (21) 21
child (20) 20
encoding lamin a/c (20) 20
endocrinology & metabolism (20) 20
lamin a/c gene (20) 20
mice (20) 20
a-type lamins (19) 19
article (19) 19
metalloendopeptidases - genetics (19) 19
partial lipodystrophy (19) 19
protein precursors - metabolism (19) 19
syndrome (19) 19
child, preschool (17) 17
gene (17) 17
laminopathy (17) 17
muscular-dystrophy (17) 17
proteins (17) 17
dna mutational analysis (16) 16
hutchinson-gilford progeria syndrome (16) 16
aging (15) 15
metalloproteinase (15) 15
pedigree (15) 15
prelamin a (15) 15
adolescent (14) 14
membrane proteins - metabolism (14) 14
amino acid sequence (13) 13
biology (13) 13
cells, cultured (13) 13
disease (13) 13
dysplasia (13) 13
homozygote (13) 13
mutation, missense (13) 13
nuclear proteins - genetics (13) 13
nutritional and metabolic diseases (13) 13
heterozygote (12) 12
lamin type a (12) 12
lmna mutation (12) 12
medicine, research & experimental (12) 12
molecular sequence data (12) 12
nuclear envelope (12) 12
nuclear lamins (12) 12
skin (12) 12
abnormalities, multiple - genetics (11) 11
fibroblasts (11) 11
fibroblasts - metabolism (11) 11
in-vitro (11) 11
lamin-a (11) 11
lamins (11) 11
life sciences (11) 11
nuclear lamina (11) 11
progeria - pathology (11) 11
zinc metalloproteinase (11) 11
genes (10) 10
gilford progeria syndrome (10) 10
insulin resistance (10) 10
lamin (10) 10
lamins - genetics (10) 10
lmna mutations (10) 10
middle aged (10) 10
mouse model (10) 10
mutations (10) 10
nuclear envelope - metabolism (10) 10
prelamin (10) 10
protein precursors - genetics (10) 10
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Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2019, Volume 179, Issue 6, pp. 893 - 895
We report the first case of mandibuloacral dysplasia with type B lipodystrophy (MADB) in Chile, South America. MADB is a very rare illness, characterized by... 
progeria | mandibuloacral dysplasia | acro‐osteolysis | lipodystrophy | ZMPSTE24 | acro-osteolysis | GENETICS & HEREDITY | Lipodystrophy | Dysplasia | Knee | Hypoplasia | Mandible | Phenotypes | Calcinosis | Pigments | Skin | Osteolysis | Genotypes
Journal Article
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 06/2011, Volume 19, Issue 6, pp. 647 - 654
Mutation in ZMPSTE24 gene, encoding a major metalloprotease, leads to defective prelamin A processing and causes type B mandibuloacral dysplasia, as well as... 
prelamin A | mandibuloacral dysplasia | secondary laminopathies | congenital myopathy | ZMPSTE24 | LMNA MUTATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | MUSCULAR-DYSTROPHY | PHENOTYPE | RESTRICTIVE DERMOPATHY | PROGERIA-SYNDROME | GENE | MOUSE MODEL | GENETICS & HEREDITY | PRELAMIN-A | LAMIN A/C | ZMPSTE24-DEFICIENT MICE | Metalloendopeptidases - genetics | Myopathies, Structural, Congenital - physiopathology | Humans | Molecular Sequence Data | Metalloendopeptidases - metabolism | Myopathies, Structural, Congenital - genetics | Acro-Osteolysis - genetics | Mutation, Missense | Myopathies, Structural, Congenital - complications | Muscular Dystrophies - genetics | Progeria - physiopathology | Mandible - physiopathology | Fibroblasts | Adult | Female | Lipodystrophy - physiopathology | Membrane Proteins - metabolism | Cell Culture Techniques | Nuclear Proteins - genetics | Abnormalities, Multiple - genetics | Mandible - abnormalities | Amino Acid Sequence | Protein Precursors - genetics | Membrane Proteins - genetics | Nuclear Proteins - metabolism | Lamin Type A - metabolism | Muscular Dystrophies - complications | Progeria - genetics | Abnormalities, Multiple - physiopathology | Acro-Osteolysis - complications | Lipodystrophy - complications | Protein Precursors - metabolism | Lipodystrophy - genetics | Homozygote | Phenotype | Acro-Osteolysis - physiopathology | Lamin Type A - genetics | Heterozygote | Mutation | Progeria - complications | Muscular Dystrophies - physiopathology
Journal Article
Histochemistry and Cell Biology, ISSN 0948-6143, 10/2012, Volume 138, Issue 4, pp. 643 - 651
Mandibuloacral dysplasia type A (MADA) is a rare laminopathy characterized by growth retardation, craniofacial anomalies, bone resorption at specific sites... 
Mandibuloacral dysplasia type A (MADA) | SUN2 | Medicine & Public Health | Heterochromatin defects | Prelamin A forms | Trichostatin A | Anatomy | Medicine/Public Health, general | Statins | HETEROCHROMATIN ORGANIZATION | MICROSCOPY | CELL BIOLOGY | NUCLEAR LAMIN-A | LAMINOPATHY | A/C | HUTCHINSON-GILFORD-PROGERIA | ENVELOPE | DISEASE | PRELAMIN-A | PRE-LAMIN | DIFFERENTIATION | Skin - cytology | Lovastatin - pharmacology | Protein Precursors - chemistry | Humans | Chromatin Assembly and Disassembly - genetics | Intracellular Signaling Peptides and Proteins - metabolism | Acro-Osteolysis - drug therapy | Chromatin Assembly and Disassembly - drug effects | Mandible - physiopathology | Lipodystrophy - physiopathology | Membrane Proteins - metabolism | Lipodystrophy - drug therapy | Nuclear Proteins - genetics | Intracellular Signaling Peptides and Proteins - genetics | Mandible - abnormalities | Protein Precursors - genetics | Membrane Proteins - genetics | Lamin Type A | Cells, Cultured | Nuclear Proteins - chemistry | Blotting, Western | Nuclear Envelope - metabolism | Hydroxymethylglutaryl-CoA Reductase Inhibitors - pharmacology | Membrane Proteins - chemistry | Intracellular Signaling Peptides and Proteins - chemistry | Fibroblasts - drug effects | Acro-Osteolysis - physiopathology | Fluorescent Antibody Technique | Protein Processing, Post-Translational | Proteins | Genotype & phenotype | Chromatin | Genetic disorders | Inhibitor drugs | Cellular biology | Mutation | Original Paper
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 11/2012, Volume 20, Issue 11, pp. 1134 - 1140
Journal Article
Journal Article