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Nature Structural and Molecular Biology, ISSN 1545-9993, 11/2016, Volume 23, Issue 11, pp. 965 - 973
Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved. We solved the crystal... 
2 SIBLINGS | ACTIVATING PROTEIN | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURODEGENERATION | DROSOPHILA | PHOSPHOINOSITIDES | CELL BIOLOGY | HEARING-LOSS | BIOPHYSICS | HOMOZYGOUS TBC1D24 MUTATION | DOORS SYNDROME | DOMAINS | RAB GTPASES | Synaptic Vesicles - metabolism | Humans | Crystallography, X-Ray | Epilepsy - metabolism | rab GTP-Binding Proteins - genetics | Drosophila Proteins - metabolism | Drosophila melanogaster - genetics | Intellectual Disability - genetics | Intellectual Disability - metabolism | Drosophila melanogaster - metabolism | Hand Deformities, Congenital - metabolism | Synaptic Vesicles - chemistry | Protein Domains | Epilepsy - genetics | Phosphatidylinositols - metabolism | Carrier Proteins - analysis | Diffusion | Binding Sites | Craniofacial Abnormalities - metabolism | Craniofacial Abnormalities - genetics | Synaptic Vesicles - genetics | rab GTP-Binding Proteins - metabolism | Phosphoric Monoester Hydrolases - genetics | Hearing Loss, Sensorineural - metabolism | Nails, Malformed - metabolism | Synaptic Vesicles - ultrastructure | rab GTP-Binding Proteins - analysis | Models, Molecular | Hearing Loss, Sensorineural - genetics | Drosophila Proteins - analysis | Nerve Tissue Proteins - genetics | Nails, Malformed - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Drosophila melanogaster - chemistry | Protein Conformation | Drosophila Proteins - genetics | Mutation | Phosphoric Monoester Hydrolases - metabolism | Mental disorders | Neurons | Epilepsy
Journal Article
Journal of Cell Biology, ISSN 0021-9525, 2014, Volume 207, Issue 4, pp. 453 - 462
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 11/2008, Volume 128, Issue 11, pp. 2640 - 2645
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2012, Volume 7, Issue 4, p. e34152
Background: Alopecia is the common hair loss problem that can affect many people. However, current therapies for treatment of alopecia are limited by low... 
STEM-CELLS | HISTONE DEACETYLASE INHIBITION | PATHWAY | FOLLICLE DEVELOPMENT | BIOLOGY | NEURONAL DIFFERENTIATION | NEURAL PROGENITOR CELLS | BETA-CATENIN | BIPOLAR DISORDER | WNT | EXPRESSION | Minoxidil - pharmacology | Humans | Alkaline Phosphatase - metabolism | Glycogen Synthase Kinase 3 beta | Male | Wnt Proteins - metabolism | Valproic Acid - pharmacology | Dermis - drug effects | Membrane Proteins - metabolism | Proto-Oncogene Proteins c-akt - metabolism | Dermis - enzymology | Hair Follicle - physiology | Dermis - metabolism | Glycogen Synthase Kinase 3 - antagonists & inhibitors | Cells, Cultured | Enzyme Activation - drug effects | Glycogen Synthase Kinase 3 - metabolism | Regeneration - physiology | beta Catenin - metabolism | Mice, Inbred C3H | Keratin-15 - metabolism | Alopecia - metabolism | Hair Follicle - drug effects | Up-Regulation - drug effects | Regeneration - drug effects | Animals | MAP Kinase Signaling System - drug effects | Wnt Signaling Pathway - drug effects | Signal Transduction - drug effects | Cell Differentiation - drug effects | Alopecia - drug therapy | Hair Follicle - metabolism | Hair Follicle - growth & development | Mice | Intermediate Filament Proteins - metabolism | Divalproex | Phosphatases | Valproic acid | Minoxidil | Alkaline phosphatase | Biotechnology | Animal models | Wnt protein | Lithium chloride | Leukemia | Filaggrin | Kinases | Phosphatase | Butyric acid | Proteins | β-catenin | Fibroblasts | Life sciences | Hair | Research & development--R&D | Wounds | Gene expression | Regeneration | Side effects | Alopecia | Acids | Stem cells | Skin | In vivo methods and tests | Lithium chlorides | Topical application | Hair loss | In vitro methods and tests | Cancer | Research & development | R&D
Journal Article
Human Mutation, ISSN 1059-7794, 06/2013, Volume 34, Issue 6, pp. 894 - 904
ABSTRACT TP63 germ‐line mutations are responsible for a group of human ectodermal dysplasia syndromes, underlining the key role of P63 in the development of... 
ectodermal dysplasia | TP63 | yeast | transactivation | Yeast | Transactivation | Ectodermal dysplasia | DNA-BINDING DOMAIN | GERM-LINE | OVERLAPPING FEATURES | PHENOTYPE | MAMMARY SYNDROME | HAY-WELLS | GENE | GENETICS & HEREDITY | P53 MUTANTS | TRANSCRIPTION FACTOR | CELL | Limb Deformities, Congenital - genetics | Proto-Oncogene Proteins c-mdm2 - genetics | Transcription Factors - chemistry | Humans | Pigmentation Disorders - metabolism | Cleft Palate - genetics | Lacrimal Duct Obstruction - genetics | Breast - metabolism | Tumor Suppressor Protein p53 - genetics | Anodontia - genetics | Lacrimal Duct Obstruction - metabolism | Ectodermal Dysplasia - metabolism | Tumor Suppressor Proteins - chemistry | Tumor Suppressor Proteins - genetics | Trans-Activators - genetics | Apoptosis Regulatory Proteins - genetics | Germ-Line Mutation | Anodontia - metabolism | bcl-2-Associated X Protein - genetics | Yeasts - metabolism | Cell Line | Tumor Suppressor Proteins - metabolism | Genetic Association Studies | Nails, Malformed - metabolism | Response Elements | HCT116 Cells | Gene Expression Regulation | Limb Deformities, Congenital - metabolism | Proto-Oncogene Proteins - genetics | Transcription Factors - genetics | Cleft Lip - metabolism | Pigmentation Disorders - genetics | Nails, Malformed - genetics | Transcription Factors - metabolism | Yeasts - genetics | Cleft Lip - genetics | Phenotype | Breast - abnormalities | Protein Isoforms | Alleles | Trans-Activators - metabolism | Cleft Palate - metabolism | Ectodermal Dysplasia - genetics | Mutation | Amino Acid Substitution | Proteins | Analysis | Genetic aspects | Crystal structure | Index Medicus
Journal Article
Nature Medicine, ISSN 1078-8956, 10/2016, Volume 22, Issue 10, pp. 1160 - 1169
Orthopedic implants containing biodegradable magnesium have been used for fracture repair with considerable efficacy; however, the underlying mechanisms by... 
MEDICINE, RESEARCH & EXPERIMENTAL | GENE-RELATED PEPTIDE | VIVO | BIOCHEMISTRY & MOLECULAR BIOLOGY | INNERVATION | OSTEOPOROSIS | CELL BIOLOGY | IN-VITRO | TRAUMATIC BRAIN-INJURY | ALLOYS | DIFFERENTIATION | OSTEOARTHRITIS | EXPRESSION | Bone Nails | Humans | Fracture Fixation, Intramedullary | Ganglia, Spinal - cytology | Cyclic AMP Response Element-Binding Protein - drug effects | Gene Knockdown Techniques | Transcription Factors - drug effects | Stem Cells | Fracture Healing - drug effects | Osteoporosis, Postmenopausal | Cation Transport Proteins - metabolism | Female | Neurons - metabolism | Calcitonin Gene-Related Peptide - metabolism | Neurons - drug effects | Osteogenesis - genetics | Osteoporotic Fractures | Calcitonin Gene-Related Peptide - drug effects | Ovariectomy | Calcitonin Gene-Related Peptide - pharmacology | Osteogenesis - drug effects | Capsaicin - toxicity | Femoral Fractures | Rats | Femur - drug effects | Sensory System Agents - toxicity | Receptor Activity-Modifying Protein 1 - genetics | Magnesium - pharmacology | Gene Knock-In Techniques | Periosteum - cytology | Transcription Factors - metabolism | Animals | Cell Differentiation - drug effects | Calcitonin Receptor-Like Protein - genetics | Cyclic AMP Response Element-Binding Protein - metabolism | TRPM Cation Channels - metabolism | Fracture Healing - genetics | Denervation | Neuropeptides | Fracture fixation | Genetic aspects | Wound healing | Health aspects | Surgical implants | Femur | Transplants & implants | Biodegradability | Capsaicin | Genes | Differentiation (biology) | Stem cell transplantation | Cortex (somatosensory) | Receptor activity modifying proteins | Proteins | Osteoporosis | Biomedical materials | Bone growth | Allografts | Dorsal root ganglia | Surgery | Calcitonin | Nerves | Sensory neurons | Biocompatibility | Ion channels | Magnesium | Bone (cortical) | Repair | Adenosine triphosphate | Biodegradation | Periosteum | Implantation | Bone healing | Ganglia | Calcitonin gene-related peptide | Bone implants | Fractures | Orthopedics | Stem cells | Healing | Bone | ATP | Transporter | Osteogenesis
Journal Article
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 01/2015, Volume 24, Issue 1, pp. 243 - 250
Journal Article
Journal of Toxicology and Environmental Health, Part A, ISSN 1528-7394, 07/2012, Volume 75, Issue 13-15, pp. 893 - 908
Journal Article
PL o S Genetics (Online), ISSN 1553-7390, 03/2017, Volume 13, Issue 3, p. e1006683
textabstractSchinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and... 
ASXL1 | TRANSFORMATION | RECURRENT | ABNORMALITIES | DISTINCT | GENETICS & HEREDITY | JUVENILE MYELOMONOCYTIC LEUKEMIA | CANCER-RISK | CSF3R T618I | MYELODYSPLASTIC SYNDROME | CHRONIC MYELOID-LEUKEMIA | Abnormalities, Multiple - metabolism | Abnormalities, Multiple - pathology | Humans | Child, Preschool | Infant | Male | Gene Expression Profiling | Hematologic Neoplasms - pathology | Nails, Malformed - pathology | Intellectual Disability - genetics | Intellectual Disability - metabolism | Cell Transformation, Neoplastic - genetics | HEK293 Cells | Hand Deformities, Congenital - metabolism | Germ-Line Mutation | Craniofacial Abnormalities - pathology | Female | Nuclear Proteins - genetics | Child | Craniofacial Abnormalities - metabolism | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Hematologic Neoplasms - metabolism | Infant, Newborn | Cell Line | Cell Proliferation - genetics | Genetic Predisposition to Disease - genetics | Genetic Association Studies | Nails, Malformed - metabolism | Intellectual Disability - pathology | Nuclear Proteins - metabolism | Blotting, Western | Nails, Malformed - genetics | Carrier Proteins - genetics | Phenotype | Carrier Proteins - metabolism | Hand Deformities, Congenital - genetics | Hematologic Neoplasms - genetics | Mutation | Hand Deformities, Congenital - pathology | Cell proliferation | Genetic aspects | Research | Gene mutations | Schinzel-Giedion syndrome | Leukemia | Health sciences | Pediatrics | Neurosciences | Laboratories | Hot spots | Genomics | Genomes | Malignancy | Clustering | Patients | Incidence | Children & youth | Medicine | Pathology | Hospitals | Language | Genetics | Life sciences | In vitro methods and tests | Cancer
Journal Article