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Research 211–240 of 815
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- Steroid Biomarkers and Genetic Studies Reveal Inactivating Mutations in Hexose-6-Phosphate Dehydrogenase in Patients with Cortisone Reductase Deficiency
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71
- Rapid Characterization of the Functional and Pharmacological Consequences of Cantú Syndrome K<sub>ATP</sub>Channel Mutations in Intact Cells
- Development of Woolly Hair and Hairlessness in a CRISPR−Engineered Mutant Mouse Model with KRT71 Mutations
- A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders
- Alopezien und Hypotrichosen im Kindesalter
- KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
- Updated strategies for the management, pathogenesis and molecular genetics of different forms of ichthyosis syndromes with prominent hair abnormalities
- <i>De novo</i> filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks
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- Types I and II Keratin Intermediate Filaments
- APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex
- Biotin and biotinidase deficiency
- Pseudoxanthoma Elasticum: Progress in Research Toward Treatment: Summary of the 2012 PXE International Research Meeting
- Human FOXN1-Deficiency Is Associated with αβ Double-Negative and FoxP3+ T-Cell Expansions That Are Distinctly Modulated upon Thymic Transplantation
- Rapp-Hodgkin syndrome: A review of the aspects of hair and hair color
- Regulation of Receptor Binding Specificity of FGF9 by an Autoinhibitory Homodimerization
- The Genetics of Human Skin Disease
- Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer