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- A Novel Point Mutation in the Ligand-Binding Domain (LBD) of the Human Glucocorticoid Receptor (hGR) Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus of hGR LBD in Conferring Transactivational Activity
- Sequence of the intron/exon junctions of the coding region of the human androgen receptor gene and identification of a point mutation in a family with complete androgen insensitivity.
- Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
- Three Novel Homozygous Point Mutations and a New Polymorphism in the COL17A1 Gene: Relation to Biological and Clinical Phenotypes of Junctional Epidermolysis Bullosa
- A novel point mutation of keratin 17 (<i>KRT17</i>) in a Japanese family with pachyonychia congenita type 2: an RNA-based genetic analysis using a single hair bulb
- Phenotypic Heterogeneity in 5 Japanese Patients with an Identical Point Mutation in the Vitamin D Receptor Gene
- Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
- Mutation analysis of type II hair keratin gene in a pedigree with monilethrix
- Molecular basis of androgen insensitivity
- The Molecular Basis of Androgen Insensitivity
- A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
- Molecular genetics of androgen insensitivity
- Informàtica i Dret penal: Els delictes relatius a la informàtica
- The G60S Connexin43 Mutant Regulates Hair Growth and Hair Fiber Morphology in a Mouse Model of Human Oculodentodigital Dysplasia
- Two familial cases of Olmsted-like syndrome with a G573V mutation of the<i>TRPV3</i>gene
- Office Diagnosis of Hair Shaft Defects
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- A missense mutation in Lama3 causes androgen alopecia
- Premature termination of hair follicle morphogenesis and accelerated hair follicle cycling in Iasi congenital atrichia (fz<sup>ica</sup>) mice points to <i>fuzzy</i> as a key element of hair cycle control
- A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy
- Monilethrix: A Novel Mutation (Glu402Lys) in the Helix Termination Motif and the First Causative Mutation (Asn114Asp) in the Helix Initiation Motif of the Type II Hair Keratin hHb6
- Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
- 17 beta-hydroxysteroid dehydrogenase 3 deficiency in the Mediterranean population.
- Isolation and characterization of a sheep cysteine-rich cuticle keratin pseudogene
- Early Dengue Virus Infection in Human Skin: A Cycle of Inflammation and Infectivity
- Upregulation of interfollicular epidermal and hair infundibulum β-catenin expression in Gsdma3 mutant mice
- Development of a mouse model for Hutchinson-Gilford progeria syndrome reveal defects in adult stem cell maintenance
- Recent advances in the molecular mechanisms causing primary generalized glucocorticoid resistance
- Abstracts
- Analogs of human genetic skin disease in domesticated animals