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JAMA Dermatology, ISSN 2168-6068, 02/2019, Volume 155, Issue 2, pp. 256 - 257
Journal Article
JAMA Dermatology, ISSN 2168-6068, 02/2017, Volume 153, Issue 2, pp. 238 - 239
Journal Article
Journal of the American Academy of Dermatology, 08/2019
Porokeratosis is associated with mevalonate pathway gene mutations. Therapeutic options are few and often limited in efficacy. On the basis of preventing the... 
Index Medicus
Journal Article
Journal of Investigative Dermatology, ISSN 0022-202X, 10/2016, Volume 136, Issue 10, pp. 1941 - 1943
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white,... 
REVERSION | EPIDERMOLYSIS-BULLOSA | KRT10 | REVERTANT MOSAICISM | MITOTIC RECOMBINATION | DERMATOLOGY | Keratin-10 - genetics | Keratin-1 - genetics | Mutation | Ichthyosis, Lamellar | Humans | Ichthyosis - genetics | Index Medicus
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 11/2018, Volume 35, Issue 6, pp. e414 - e415
Journal Article
JAMA Dermatology, ISSN 2168-6068, 06/2015, Volume 151, Issue 6, pp. 638 - 641
Journal Article
Nature, ISSN 0028-0836, 02/2012, Volume 482, Issue 7383, pp. 98 - 102
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2016, Volume 99, Issue 2, pp. 443 - 450
Journal Article
Pediatrics, ISSN 0031-4005, 01/2017, Volume 139, Issue 1, p. 1
  Harlequin ichthyosis (HI) is the most severe phenotype of the autosomal recessive congenital ichthyoses. HI is caused by mutations in the lipid transporter... 
Babies | Genotype & phenotype | Risk assessment | Mutation | Adenosine triphosphatase
Journal Article
Journal of Orthopaedic Surgery, ISSN 1022-5536, 5/2019, Volume 27, Issue 2, pp. 2309499019849800 - 2309499019849800
Purpose: To report midterm outcomes of a series of acute pectoralis major tears repaired surgically in the deployed setting in active duty military personnel.... 
pectoralis major tear | wartime injuries | military | tendon repair | active duty | Military personnel
Journal Article
Science, ISSN 0036-8075, 8/2001, Volume 293, Issue 5532, pp. 1107 - 1112
Hypertension is a major public health problem of largely unknown cause. Here, we identify two genes causing pseudohypoaldosteronism type II, a Mendelian trait... 
Hypertension | Polymerase chain reaction | Kidneys | Exons | Genomics | DNA | Genetic loci | Amino acids | Genetic mutation | Chromosomes | Research Article | CHLORIDE REABSORPTION | HYPERKALEMIA | MULTIDISCIPLINARY SCIENCES | PSEUDOHYPOALDOSTERONISM TYPE-II | DEFECT | MULTILOCUS LINKAGE | LOCUS | BLOOD-PRESSURE | Sequence Deletion | Kidney Tubules, Distal - enzymology | Intercellular Junctions - enzymology | Minor Histocompatibility Antigens | Humans | Pseudohypoaldosteronism - physiopathology | Molecular Sequence Data | Male | Mutation, Missense | Phosphoproteins - metabolism | Chromosomes, Human, Pair 17 - genetics | WNK Lysine-Deficient Protein Kinase 1 | Kidney Tubules, Distal - ultrastructure | Base Sequence | Female | Kidney Tubules, Collecting - enzymology | Membrane Proteins - metabolism | Hypertension - enzymology | Hypertension - genetics | Chromosomes, Human, Pair 12 - genetics | Protein-Serine-Threonine Kinases - metabolism | Genetic Linkage | Amino Acid Sequence | Cytoplasm - enzymology | Kidney Tubules, Collecting - ultrastructure | Signal Transduction | Introns | Pseudohypoaldosteronism - genetics | Protein-Serine-Threonine Kinases - genetics | Intracellular Signaling Peptides and Proteins | Chromosome Mapping | Hypertension - physiopathology | Gene Expression Regulation, Enzymologic | Pseudohypoaldosteronism - enzymology | Zonula Occludens-1 Protein | Pedigree | Protein-Serine-Threonine Kinases - chemistry | Mutation | Microscopy, Fluorescence | Protein kinases | Genetic aspects | Proteins | Genes | WNK4 gene | WNK1 gene | pseudohypoaldosteronism (type II) | Index Medicus
Journal Article
Science, ISSN 0036-8075, 10/2010, Volume 330, Issue 6000, pp. 94 - 97
Somatic loss of wild-type alíeles can produce disease traits such as neoplasia. Conversely, somatic loss of disease-causing mutations can revert phenotypes;... 
Keratins | Mitotic recombination | REPORTS | Loss of heterozygosity | Stem cells | Keratinocytes | Skin diseases | Skin | Genetic mutation | Genotypes | Ichthyosis | EPIDERMOLYSIS-BULLOSA SIMPLEX | STEM-CELLS | RETINOBLASTOMA | RNA | MECHANISM | REVERTANT MOSAICISM | MULTIDISCIPLINARY SCIENCES | KERATIN-10 | ERYTHRODERMA | INTERMEDIATE FILAMENTS | HUMAN EPIDERMIS | Keratin-10 - chemistry | Frameshift Mutation | Mitosis | Humans | Ichthyosiform Erythroderma, Congenital - pathology | Keratin-10 - genetics | Molecular Sequence Data | Male | Intermediate Filaments - metabolism | Loss of Heterozygosity | Chromosomes, Human, Pair 17 - genetics | Keratins - metabolism | Recombination, Genetic | Cell Nucleolus - metabolism | Female | Skin - pathology | Keratin-10 - metabolism | Amino Acid Sequence | Mutant Proteins - genetics | Selection, Genetic | Mutant Proteins - metabolism | Chromosome Mapping | Intermediate Filaments - ultrastructure | Mutant Proteins - chemistry | Mosaicism | Ichthyosiform Erythroderma, Congenital - genetics | Care and treatment | Gene mutations | Physiological aspects | Genetic aspects | Research | Gene expression | Identification and classification | Cell division | Mutation | Genetic recombination | Genomics | Index Medicus | Human | Mutations | Reversion | Elevated | Genes | Disorders | High frequencies
Journal Article
Journal Article
JAMA Dermatology, ISSN 2168-6068, 06/2015, Volume 151, Issue 6, p. 638
Journal Article
Journal of Cutaneous Pathology, ISSN 0303-6987, 05/2019, Volume 46, Issue 5, pp. 305 - 309
Journal Article