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The American Journal of Human Genetics, ISSN 0002-9297, 05/2012, Volume 90, Issue 5, pp. 784 - 795
Psoriasis is a common, immune-mediated genetic disorder of the skin and is associated with arthritis in approximately 30% of cases. Previously, we localized... 
PATHOGENESIS | REGULATOR | PSORIASIS SUSCEPTIBILITY LOCI | GENES | GENETICS & HEREDITY | IDENTIFICATION | PROMOTER | NF-KAPPA-B | VARIANT | GENOME-WIDE ASSOCIATION | FAMILY | Haiti | Up-Regulation | Exons | Arthritis, Psoriatic - physiopathology | Humans | Child, Preschool | Molecular Sequence Data | NF-kappa B - metabolism | Gene Expression Profiling | Chemokine CCL20 | Genetic Loci | Chromosomes, Human, Pair 17 - genetics | CARD Signaling Adaptor Proteins - genetics | CARD Signaling Adaptor Proteins - metabolism | Cloning, Molecular | HEK293 Cells | Female | Membrane Proteins - metabolism | Amino Acid Sequence | Chromosomes, Human, Pair 17 - metabolism | Epidermis - metabolism | Genetic Predisposition to Disease | Membrane Proteins - genetics | Europe | Guanylate Cyclase - metabolism | Transcription Factors - genetics | Sequence Analysis, DNA | Arthritis, Psoriatic - genetics | Proteins - genetics | Transcription Factors - metabolism | Proteins - metabolism | NF-kappa B - genetics | Keratinocytes - metabolism | Pedigree | Taiwan | Guanylate Cyclase - genetics | Skin | Mutation | Genome, Human | Europeans | Gene mutations | Genetic susceptibility | Psoriasis | Genetic aspects | Research | Nucleotide sequencing | DNA sequencing | Diseases | Genomics | Medical genetics | Splicing | Susceptibility | Caspase | Keratinocytes | Epidermis | Arthritis | Inflammation | NF- Kappa B protein | CCL20 protein | Skin diseases | genomics | Age | Chemokines | Injuries | Interleukin 8
Journal Article
Nature Medicine, ISSN 1078-8956, 03/2016, Volume 22, Issue 3, pp. 288 - 297
Impaired erythropoiesis in the deletion 5q (del(5q)) subtype of myelodysplastic syndrome (MDS) has been linked to heterozygous deletion of RPS14; which encodes... 
MEDICINE, RESEARCH & EXPERIMENTAL | HUMAN 5Q-SYNDROME | BIOCHEMISTRY & MOLECULAR BIOLOGY | BONE-MARROW | DELETION 5Q | RISK MYELODYSPLASTIC SYNDROME | CELL BIOLOGY | HEMATOPOIETIC STEM-CELLS | MOUSE MODEL | DIAMOND-BLACKFAN ANEMIA | MYELOID-LEUKEMIA | SUPPRESSOR-CELLS | UP-REGULATION | Immunohistochemistry | Calgranulin A - metabolism | Humans | Immunity, Innate - genetics | Calgranulin A - genetics | Tumor Suppressor Protein p53 - genetics | Anemia - genetics | Flow Cytometry | Mass Spectrometry | Calgranulin B - genetics | Megakaryocytes | Cytokines - immunology | Disease Models, Animal | Erythropoiesis - genetics | Haploinsufficiency - genetics | Anemia - immunology | Ribosomal Proteins - genetics | In Situ Hybridization, Fluorescence | Blotting, Western | Mice, Knockout | Immunity, Innate - immunology | Microscopy, Confocal | Animals | Bone Marrow - pathology | Fluorescent Antibody Technique | Erythroid Precursor Cells - metabolism | Mice | Myelodysplastic Syndromes - genetics | In Vitro Techniques | Myelodysplastic Syndromes - pathology | Myelodysplastic Syndromes - immunology | Erythropoiesis - immunology | Hematopoietic Stem Cells | Erythropoiesis | Physiological aspects | Genetic aspects | Research | Cell differentiation | Hematopoietic stem cells | Proteins | Gene expression | Anemia | Erythrocytes | Apoptosis | Immune system
Journal Article
Journal of Clinical Oncology, ISSN 0732-183X, 06/2013, Volume 31, Issue 17, pp. 2219 - 2221
Journal Article
Blood, ISSN 0006-4971, 12/2015, Volume 126, Issue 23, pp. 1205 - 1205
Abstract Diamond Blackman Anemia (DBA) is a severe erythroid hypoplasia that usually presents during the first year of life. Most cases are due to heterozygous... 
Journal Article
JOURNAL OF CLINICAL INVESTIGATION, ISSN 0021-9738, 09/2019, Volume 129, Issue 9, pp. 3821 - 3826
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 09/2019, Volume 129, Issue 9, p. 3821
Shwachman-Diamond syndrome (SDS) is a rare and clinically heterogeneous bone marrow (BM) failure syndrome caused by mutations in the Shwachman-Bodian-Diamond... 
RNA sequencing | RNA | Genes | Bone morphogenetic proteins | Genetic aspects | Transforming growth factors | Hematopoietic stem cells
Journal Article
Cancer Research, ISSN 0008-5472, 09/2017, Volume 77, Issue 17, pp. 4613 - 4625
Journal Article
Pigment Cell & Melanoma Research, ISSN 1755-1471, 11/2016, Volume 29, Issue 6, pp. 656 - 668
Journal Article