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Research 151–180 of 1000+
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
- A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
- Congenital hair loss disorders: Rare, but not too rare
- The character “hairless” in the mouse
- A Splice Site Mutation in the Gene of the Human Type I Hair Keratin hHa1 Results in the Expression of a Tailless Keratin Isoform
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- High incidence of severe hand–foot syndrome during capecitabine–docetaxel combination chemotherapy
- Tooth Development Associated with Mutations in Hereditary Vitamin D–Resistant Rickets
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Alopecia areata
- Cryptic Patterning of Avian Skin Confers a Developmental Facility for Loss of Neck Feathering
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
- Mutation of the GDP-Fucose Biosynthesis Gene gmds Increases Hair Cell Number and Neuromast Regenerative Capacity in Zebrafish
- Two females with hair loss
- Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation
- Hair Today
- Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
- Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
- Biochemistry of epidermal stem cells
- Homozygous Nonsense Mutation in DSC3 Resulting in Skin Fragility and Hypotrichosis
- A rare LMNA missense mutation causing a severe phenotype of mandibuloacral dysplasia type A: a case report
- 092 Novel biallelic RIPK4 mutations cause ectodermal dysplasia with cutaneous syndactyly
- 034 Characterization of novel TMEM173 mutation causing a lupus- and SAVI-like phenotype, modified by polymorphisms in TMEM173 and IFIH1
- Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
- Strategies for High-Efficiency Mutation Using the CRISPR/Cas System