X
Search Filters
Format Format
Format Format
X
Sort by Item Count (A-Z)
Filter by Count
Journal Article (1753) 1753
Book Review (362) 362
Publication (144) 144
Book Chapter (20) 20
Newsletter (18) 18
Conference Proceeding (5) 5
Book / eBook (3) 3
Dissertation (3) 3
Government Document (2) 2
Data Set (1) 1
Presentation (1) 1
Web Resource (1) 1
more...
Subjects Subjects
Subjects Subjects
X
Sort by Item Count (A-Z)
Filter by Count
index medicus (1536) 1536
humans (1456) 1456
female (618) 618
male (610) 610
ichthyosis (529) 529
dermatology (516) 516
animals (439) 439
mutation (365) 365
adult (349) 349
skin (329) 329
ichthyosis - genetics (311) 311
mice (245) 245
cell biology (244) 244
child (240) 240
adolescent (223) 223
biochemistry & molecular biology (213) 213
skin - metabolism (211) 211
ichthyosis - metabolism (206) 206
epidermis - metabolism (204) 204
ichthyosis - pathology (200) 200
genetics & heredity (195) 195
skin - pathology (187) 187
child, preschool (184) 184
mutations (181) 181
lamellar ichthyosis (177) 177
middle aged (169) 169
expression (165) 165
gene (161) 161
genetic aspects (160) 160
x-linked ichthyosis (157) 157
phenotype (151) 151
infant (149) 149
biochemistry (146) 146
infant, newborn (144) 144
abridged index medicus (139) 139
syndrome (138) 138
molecular biology (134) 134
proteins (130) 130
cells, cultured (128) 128
keratinocytes - metabolism (128) 128
analysis (126) 126
filaggrin (121) 121
epidermis (116) 116
pedigree (115) 115
stratum-corneum (115) 115
lipid metabolism (114) 114
research (113) 113
atopic dermatitis (110) 110
atopic-dermatitis (110) 110
lipids (110) 110
dermatology & venereal diseases (108) 108
article (105) 105
genetic disorders (103) 103
genes (102) 102
skin diseases (102) 102
differentiation (101) 101
intermediate filament proteins - genetics (101) 101
epidermis - pathology (100) 100
ichthyosis vulgaris (100) 100
aged (98) 98
harlequin ichthyosis (97) 97
gene expression (95) 95
pediatrics (92) 92
ichthyosis - diagnosis (90) 90
integumentary system (90) 90
physiological aspects (89) 89
genetics (88) 88
keratinocytes (86) 86
molecular sequence data (86) 86
barrier function (85) 85
intermediate filament proteins - metabolism (84) 84
steryl-sulfatase (83) 83
permeability (82) 82
disease (81) 81
ichthyosis, lamellar - genetics (81) 81
ichthyosis - etiology (79) 79
metabolism (78) 78
disease models, animal (77) 77
diagnosis (74) 74
genes, recessive (74) 74
enzymes (72) 72
base sequence (71) 71
cell differentiation (71) 71
dna mutational analysis (70) 70
keratins - metabolism (70) 70
identification (69) 69
pregnancy (69) 69
protein (69) 69
biopsy (68) 68
care and treatment (68) 68
immunohistochemistry (68) 68
amino acid sequence (67) 67
transglutaminases - metabolism (67) 67
young adult (67) 67
endocrinology & metabolism (66) 66
keratinocytes - cytology (66) 66
ichthyosis - enzymology (65) 65
medicine, research & experimental (65) 65
dermatitis, atopic - genetics (64) 64
genotype (64) 64
more...
Library Location Library Location
Language Language
Language Language
X
Sort by Item Count (A-Z)
Filter by Count
English (1668) 1668
German (48) 48
French (24) 24
Russian (18) 18
Japanese (8) 8
Spanish (8) 8
Italian (4) 4
Korean (4) 4
Norwegian (2) 2
Polish (2) 2
Portuguese (2) 2
Swedish (2) 2
Persian (1) 1
Turkish (1) 1
more...
Publication Date Publication Date
Click on a bar to filter by decade
Slide to change publication date range


PLoS ONE, ISSN 1932-6203, 08/2016, Volume 11, Issue 8, pp. e0161465 - e0161465
Harlequin Ichthyosis is a severe skin disease caused by mutations in the human gene encoding ABCA12. Here, we characterize a novel mutation in intron 29 of the... 
SPHINGOLIPID METABOLISM | TRANSPORTER ABCA12 | GENE | MULTIDISCIPLINARY SCIENCES | GOLGI-APPARATUS | LAMELLAR GRANULES | EPIDERMAL-KERATINOCYTES | MICE | TERMINAL DIFFERENTIATION | MUTATIONS | PERMEABILITY BARRIER | Exons | Skin - metabolism | Ichthyosis, Lamellar - therapy | ATP-Binding Cassette Transporters - genetics | Base Sequence | Skin Transplantation | Skin - pathology | Disease Models, Animal | Desmosomes - metabolism | Epidermis - metabolism | Epidermis - pathology | Ceramides - metabolism | Chromosome Mapping | Permeability | Genes, Recessive | Sequence Analysis, DNA | Phenotype | Animals | Epidermis - ultrastructure | Ichthyosis, Lamellar - genetics | Keratinocytes - metabolism | Models, Biological | Alleles | Skin - ultrastructure | Mice | Mutation | Glucosylceramides - metabolism | Kallikreins - metabolism | Ichthyosis, Lamellar - pathology | Gene mutations | Physiological aspects | Genetic aspects | Skin | Research | Risk factors | Ichthyosis | Neonates | Animal models | Calcium | Transcription | Veterans | Lamellae | Lipids | Defects | Ceramide glucosyltransferase | Metabolites | Proteolysis | Ceramide | Skin diseases | Enzymes | Congenital diseases | Stratum corneum | Dermatology | Intracellular levels | Secretion | Proteolytic enzymes | Kallikrein | Keratinocytes | Cell division | Epidermis | Metabolism | Ribonucleic acid--RNA | Mutants | Medicine | Pathology | Hypotheses | Index Medicus | RNA | Ribonucleic acid
Journal Article
Nature Communications, ISSN 2041-1723, 12/2018, Volume 9, Issue 1, pp. 825 - 12
STIM1 and Orai1 are key components of the Ca2+-release activated Ca2+ (CRAC) current. Orai1, which represents the subunit forming the CRAC channel complex, is... 
CHANNEL FUNCTION | OPERATED CALCIUM-ENTRY | ORAI CHANNELS | MULTIDISCIPLINARY SCIENCES | MUTATION | CA2+ SENSOR | STORE | INTERACTION MOLECULE-1 STIM1 | PLASMA-MEMBRANE | SAM DOMAIN | CRAC CHANNEL | Calcium - metabolism | Dyslexia - metabolism | Humans | Dyslexia - pathology | Green Fluorescent Proteins - genetics | Calcium - chemistry | ORAI1 Protein - chemistry | Migraine Disorders - pathology | Stromal Interaction Molecule 1 - chemistry | Neoplasm Proteins - genetics | Binding Sites | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | Gene Expression | Models, Molecular | Recombinant Proteins - chemistry | Neoplasm Proteins - chemistry | Patch-Clamp Techniques | Migraine Disorders - genetics | Miosis - pathology | Luminescent Proteins - genetics | Muscle Fatigue - genetics | Miosis - metabolism | Blood Platelet Disorders - pathology | Ichthyosis - metabolism | Protein Multimerization | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | HEK293 Cells | Ichthyosis - genetics | Ion Transport | Protein Interaction Domains and Motifs | Spleen - pathology | Genes, Reporter | Recombinant Proteins - metabolism | Green Fluorescent Proteins - metabolism | Protein Conformation, alpha-Helical | ORAI1 Protein - genetics | Bacterial Proteins - genetics | Gene Expression Regulation | Recombinant Proteins - genetics | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Stromal Interaction Molecule 1 - metabolism | Erythrocytes, Abnormal - pathology | Spleen - metabolism | Protein Binding | Bacterial Proteins - metabolism | Blood Platelet Disorders - metabolism | Amino Acid Substitution | Luminescent Proteins - metabolism | Calcium channels | STIM1 protein | Activation | Exposure | Orai1 protein | Elongation | Calcium ions | Index Medicus
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 09/2010, Volume 130, Issue 9, pp. 2286 - 2294
Journal Article
Human Mutation, ISSN 1059-7794, 04/2017, Volume 38, Issue 4, pp. 426 - 438
Calcium (Ca 2+ ) is a physiological key factor, and the precise modulation of free cytosolic Ca 2+ levels regulates multiple cellular functions. Store‐operated... 
SOCE | ORAI1 | calcium | STIM1 | Stormorken syndrome | tubular aggregate myopathy | CA2+ ENTRY | PROTEIN | CONSTITUTIVE ACTIVATION | DEFICIENCY | OPERATED CALCIUM-CHANNEL | REGION | ORIGIN | GENETICS & HEREDITY | INTERACTION MOLECULE-1 STIM1 | CRAC CHANNEL | IMMUNODEFICIENCY | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Male | Myopathies, Structural, Congenital - genetics | Erythrocytes, Abnormal - metabolism | Mutation, Missense | Neoplasm Proteins - metabolism | Stromal Interaction Molecule 1 - genetics | Migraine Disorders - metabolism | Miosis - genetics | Base Sequence | HEK293 Cells | Ichthyosis - genetics | Female | Neoplasm Proteins - genetics | Blood Platelet Disorders - genetics | ORAI1 Protein - metabolism | Amino Acid Sequence | ORAI1 Protein - genetics | Cells, Cultured | Spleen - abnormalities | Dyslexia - genetics | Mice, Knockout | Sequence Homology, Amino Acid | Stromal Interaction Molecule 1 - metabolism | Animals | Ion Channel Gating - genetics | Microscopy, Fluorescence - methods | Migraine Disorders - genetics | Spleen - metabolism | Pedigree | Muscle Fatigue - genetics | Miosis - metabolism | Myopathies, Structural, Congenital - metabolism | Blood Platelet Disorders - metabolism | Muscles | Medicine, Experimental | Medical research | Genetic aspects | Permeability | Homeostasis | Mutation | Index Medicus
Journal Article
Human Mutation, ISSN 1059-7794, 10/2014, Volume 35, Issue 10, pp. 1121 - 1132
Stormorken syndrome is a rare autosomal dominant disorder characterized by a phenotype that includes miosis, thrombocytopenia/thrombocytopathy with bleeding... 
calcium homeostasis | stromal interaction molecule 1 (STIM1) | Stormorken syndrome | miosis | tubular aggregate myopathy | Stromal interaction molecule 1 (STIM1) | Miosis | Tubular aggregate myopathy | Calcium homeostasis | BLEEDING TENDENCY | THROMBOCYTOPATHIA | ENTRY | HYPERORNITHINEMIA | tubular aggregate mypathy | PHOSPHOGLYCERATE MUTASE DEFICIENCY | MYOPATHY | GYRATE ATROPHY | HEREDITARY SYNDROME | SKELETAL-MUSCLE | GENETICS & HEREDITY | EXTREME MIOSIS | Calcium Channels - metabolism | Ichthyosis - metabolism | Calcium - metabolism | Dyslexia - metabolism | Humans | Middle Aged | Child, Preschool | Dyslexia - pathology | Endoplasmic Reticulum - metabolism | Infant | Male | Erythrocytes, Abnormal - metabolism | Neoplasm Proteins - metabolism | Endoplasmic Reticulum - ultrastructure | Migraine Disorders - metabolism | Ichthyosis - pathology | Miosis - genetics | Migraine Disorders - pathology | Ichthyosis - genetics | Adult | Female | Membrane Proteins - metabolism | Neoplasm Proteins - genetics | Spleen - pathology | Child | Infant, Newborn | Blood Platelet Disorders - genetics | Stromal Interaction Molecule 1 | Protein Structure, Secondary | Membrane Proteins - genetics | Neoplasm Proteins - chemistry | Spleen - abnormalities | Dyslexia - genetics | Point Mutation | Erythrocytes, Abnormal - pathology | Membrane Proteins - chemistry | Migraine Disorders - genetics | Spleen - metabolism | Miosis - pathology | Pedigree | Adolescent | Muscle Fibers, Skeletal - pathology | Muscle Fatigue - genetics | Aged | Miosis - metabolism | Blood Platelet Disorders - metabolism | Blood Platelet Disorders - pathology | Genetic research | Genetics | Genetic aspects | Medical examination | Blood | Medical research | Genotype & phenotype | Genetic disorders | Mutation | Index Medicus
Journal Article
Nature Neuroscience, ISSN 1097-6256, 02/2007, Volume 10, Issue 2, pp. 177 - 185
To understand the functions of NIPA1, mutated in the neurodegenerative disease hereditary spastic paraplegia, and of ichthyin, mutated in autosomal recessive... 
PROTEIN | GENE | HEREDITARY SPASTIC PARAPLEGIA | FORM | STABILITY | II RECEPTOR | NUCLEOTIDE EXCHANGE FACTOR | DYNAMICS | MUTATIONS | NEUROMUSCULAR-JUNCTION | NEUROSCIENCES | Spastic Paraplegia, Hereditary - genetics | Axonal Transport - genetics | Ichthyosis - physiopathology | Neuromuscular Junction - abnormalities | Ichthyosis - metabolism | Neuromuscular Junction - metabolism | Bone Morphogenetic Protein Receptors - genetics | Nervous System - metabolism | Gene Expression Regulation, Developmental - genetics | Molecular Sequence Data | Presynaptic Terminals - ultrastructure | Drosophila Proteins - metabolism | Spastic Paraplegia, Hereditary - metabolism | Bone Morphogenetic Proteins - metabolism | Microtubules - metabolism | Nervous System Malformations - metabolism | Ichthyosis - genetics | Nervous System Malformations - physiopathology | Neuromuscular Junction - genetics | Membrane Proteins - metabolism | Nervous System - embryology | Nervous System Malformations - genetics | Bone Morphogenetic Proteins - genetics | Spastic Paraplegia, Hereditary - physiopathology | Nervous System - cytology | Membrane Proteins - genetics | Bone Morphogenetic Protein Receptors - metabolism | Receptors, Cell Surface - metabolism | Signal Transduction - genetics | Microtubules - pathology | Sequence Homology, Nucleic Acid | Sequence Homology, Amino Acid | Animals | Microtubules - genetics | Presynaptic Terminals - metabolism | Drosophila Proteins - genetics | Drosophila melanogaster | Receptors, Cell Surface - genetics | Axons | Physiological aspects | Bone morphogenetic proteins | Nervous system | Genetic aspects | Degeneration | Research | Diagnosis | Risk factors | Index Medicus | endosome | TGF-beta | SPG6 | hereditary spastic paraplegia | Neuromuscular junction | Ichthyin
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2013, Volume 8, Issue 7, pp. e67869 - e67869
Loss-of-function mutations in human profilaggrin gene have been identified as the cause of ichthyosis vulgaris (IV), and as a major predisposition factor for... 
ALLERGIC INFLAMMATION | FILAGGRIN DEFICIENCY | ICHTHYOSIS VULGARIS | TOPICAL APPLICATION | MULTIDISCIPLINARY SCIENCES | BARRIER FUNCTION | STRATUM-CORNEUM | OF-FUNCTION MUTATIONS | NF-KAPPA-B | CORNIFIED ENVELOPE | THYMIC STROMAL LYMPHOPOIETIN | Mannose-Binding Lectins - metabolism | Dermatitis, Atopic - genetics | Keratin-6 - genetics | Skin - metabolism | Humans | STAT Transcription Factors - metabolism | NF-kappa B - metabolism | Th2 Cells - immunology | Interleukin-1beta - genetics | Ichthyosis Vulgaris - genetics | Lectins, C-Type - metabolism | Ichthyosis Vulgaris - pathology | Interleukin-1beta - metabolism | Dermatitis, Atopic - immunology | Intermediate Filament Proteins - genetics | Antigens, Surface - metabolism | Ichthyosis Vulgaris - metabolism | Cytokines - genetics | Skin - pathology | Disease Models, Animal | Skin - immunology | Genetic Predisposition to Disease | Inflammation Mediators | Cytokines - metabolism | Signal Transduction | Mice, Transgenic | Dermatitis, Atopic - pathology | Th2 Cells - metabolism | Mice, Knockout | Phenotype | Animals | Ichthyosis Vulgaris - immunology | Keratin-6 - metabolism | Mice | Mutation | Dermatitis, Atopic - metabolism | Intermediate Filament Proteins - metabolism | Advertising executives | Genetic aspects | Skin | Cytokines | RNA | Atopic dermatitis | Polarization | Laboratories | Proline | Lymphocytes T | Biology | mRNA | Filaggrin | Dermatitis | Tails | Thymus | Interleukin 6 | Proteins | Genotype & phenotype | Pathways | Eczema | Interleukin 1 | Skin diseases | Quantitative analysis | Dendritic cells | Dermatology | Epidermis | Protein biosynthesis | Inflammation | Gene expression | Patients | Ichthyosis | Asthma | Signaling | Thymic stromal lymphopoietin | Biopsy | Correlation analysis | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 11/2012, Volume 7, Issue 11, pp. e49519 - e49519
Imaging mass spectrometry (IMS) is a useful cutting edge technology used to investigate the distribution of biomolecules such as drugs and metabolites, as well... 
PERFORMANCE LIQUID-CHROMATOGRAPHY | HIGH-SPATIAL-RESOLUTION | GLUCOSYLCERAMIDE | INSTRUMENTATION | EPIDERMAL PERMEABILITY BARRIER | MULTIDISCIPLINARY SCIENCES | DISEASE | STRATUM-CORNEUM CERAMIDES | PHOSPHATIDYLCHOLINES | SPHINGOMYELINS | LIPIDS | Ions - chemistry | Ceramides - metabolism | Lipid Metabolism, Inborn Errors - metabolism | Muscular Diseases - metabolism | Skin - metabolism | Humans | Lipid Metabolism, Inborn Errors - diagnosis | Molecular Imaging | Phosphatidylcholines - chemistry | Ions - metabolism | Phosphatidylcholines - metabolism | Muscular Diseases - diagnosis | Diagnostic Imaging | Skin - chemistry | Ichthyosiform Erythroderma, Congenital - metabolism | Lipids - chemistry | Animals | Ichthyosiform Erythroderma, Congenital - diagnosis | Mass Spectrometry | Mice | Phosphoric Monoester Hydrolases - metabolism | Skin - pathology | Phosphoric Monoester Hydrolases - chemistry | Metabolites | Spectrum analysis | Ceramides | Skin diseases | Skin | Permeability | Plant lipids | Drugs | Pathogenesis | Terrestrial environments | Lipids | Tissues | Water loss | Lasers | Imaging | Ceramide | Biomolecules | Stress concentration | Spectroscopy | Stratum corneum | Abnormalities | Excess water | Epidermis | Ions | Mass spectroscopy | Desorption | Metabolism | Ichthyosis | Storage diseases | Ionization | Diagnostic systems | Mass spectrometry | Index Medicus
Journal Article
Journal Article
PLoS Pathogens, ISSN 1553-7366, 2015, Volume 11, Issue 9, pp. e1005159 - e1005159
Soil- and waterborne bacteria such as Pseudomonas aeruginosa are constantly challenging body surfaces. Since infections of healthy skin are unexpectedly rare,... 
ESCHERICHIA-COLI | INNATE IMMUNE-RESPONSE | BARRIER FUNCTION | MICROBIOLOGY | PEPTIDE | DNA-REPLICATION | OUTER-MEMBRANE VESICLES | ICHTHYOSIS VULGARIS | VIROLOGY | HUMAN BETA-DEFENSIN-2 | PROTEINS | PARASITOLOGY | ECCRINE SWEAT GLANDS | Pseudomonas aeruginosa - immunology | Skin - microbiology | Skin Diseases, Bacterial - microbiology | DNA, Bacterial - metabolism | Skin Diseases, Bacterial - immunology | Skin - metabolism | Humans | Pseudomonas aeruginosa - growth & development | Skin Diseases, Bacterial - metabolism | Pseudomonas aeruginosa - physiology | Antimicrobial Cationic Peptides - metabolism | DNA-Binding Proteins - metabolism | DNA, Bacterial - antagonists & inhibitors | Pseudomonas Infections - metabolism | S100 Proteins - genetics | Electrophoretic Mobility Shift Assay | Antimicrobial Cationic Peptides - genetics | Peptide Fragments - genetics | Skin - pathology | Skin - immunology | Protein Structure, Tertiary | Recombinant Proteins - metabolism | Epidermis - metabolism | Peptide Fragments - metabolism | Antimicrobial Cationic Peptides - chemistry | DNA Replication | S100 Proteins - metabolism | Microbial Viability | Immunity, Innate | Pseudomonas Infections - microbiology | Pseudomonas Infections - immunology | Host-Pathogen Interactions | Eccrine Glands - metabolism | Eccrine Glands - cytology | Pseudomonas Infections - pathology | Epidermal Cells | Skin Diseases, Bacterial - pathology | Pseudomonas aeruginosa - ultrastructure | Sweat - metabolism | Host-bacteria relationships | DNA replication | C-reactive protein | Pseudomonas aeruginosa | Genetic aspects | Observations | Health aspects | Index Medicus | Peptides | Cystic fibrosis | Antimicrobial agents | Infections | Bacteriology | Proteins | Confidence intervals | Microscopy | Deoxyribonucleic acid | DNA | Bacteria | Skin | Localization
Journal Article