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Research 30
- 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
- A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
- Monilethrix: Mutational Hotspot in the Helix Termination Motif of the Human Hair Basic Keratin 6
- Structural Stability of Wild Type and Mutated α-Keratin Fragments: Molecular Dynamics and Free Energy Calculations
- Novel <i>KRT83</i> and <i>KRT86</i> mutations associated with monilethrix
- A mutation in the type II hair keratin KRT86 gene in a Han family with monilethrix
- Identification of Novel Mutations in Basic Hair Keratins hHb1 and hHb6 in Monilethrix: Implications for Protein Structure and Clinical Phenotype
- Two Different Mutations in the Same Codon of a Type II Hair Keratin (hHb6) in Patients with Monilethrix
- SASH1 Mutations and Hereditary Disorders of Pigmentation: Review of Literature
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- A study of phenotypic correlation with the genotypic status of HTM regions of KRTHB6 and KRTHB1 genes in monilethrix families of Indian origin
- Alopezien und Hypotrichosen im Kindesalter
- Autosomal-Dominant Woolly Hair Resulting from Disruption of Keratin 74 (KRT74), a Potential Determinant of Human Hair Texture
- Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex
- More than One Gene Involved in Monilethrix: Intracellular but also Extracellular Players
- To grow or not to grow: Hair morphogenesis and human genetic hair disorders
- Unraveling the Molecular Mechanisms of Hair and Nail Genodermatoses
- LEKTI: Netherton Syndrome and Atopic Dermatitis
- Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters
- Monilethrix Treated with Minoxidil
- De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
- EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
- Disorders of hair in children
- Biomedical applications of organoids in genetic diseases
- Investigating the role of keratin proteins and microbial associations in hereditary and pathogenic alopecia
- A clinico-epidemiological study of scalp hair loss in children (0–18 years) in Kota Region, South-East Rajasthan
- In Vitro Assembly and Structure of Trichocyte Keratin Intermediate Filaments
- Integration of Point-of-Care Technology in the Decoding Process of Single Nucleotide Polymorphism for Healthcare Application †
- The in vitro Assembly of Hair Follicle Keratins: Comparison of Cortex and Companion Layer Keratins
- Expansion of the spectrum of ITGB6-related disorders to adolescent alopecia, dentogingival abnormalities and intellectual disability