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Research 91–120 of 1000+
- 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
- The mouse frizzy (<i>fr</i>) and rat ‘hairless’ (<i>fr</i><sup><i>CR</i></sup>) mutations are natural variants of protease serine S1 family member 8 (<i>Prss8</i>)
- Phenotypic variability associated with<i>WNT10A</i>nonsense mutations
- A Novel Missense Mutation Affecting the Human Hairless Thyroid Receptor Interacting Domain 2 Causes Congenital Atrichia
- Monilethrix: a keratin hHb6 mutation is co‐dominant with variable expression
- Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family
- Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma
- New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
- Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
- Human ClinicalPhenotype Associated with FOXN1 Mutations
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- Balding: A New Mutation on Mouse Chromosome 18 Causing Hair Loss and Immunological Defects
- PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS)
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Functional analyses of a novel missense and other mutations of the vitamin D receptor in association with alopecia
- Atrichia with papular lesions resulting from a novel homozygous missense mutation in the hairless gene
- Atrichia with papular lesions resulting from a novel insertion mutation in the human hairless gene
- Insertional mutation of the hairless locus on mouse Chromosome 14
- Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- Congenital Zinc Deficiency from Mutations of the<i>SLC39A4</i>Gene as the Genetic Background of Acrodermatitis Enteropathica
- iRhom2 Mutation Leads to Aberrant Hair Follicle Differentiation in Mice
- Highly Prevalent LIPH Founder Mutations Causing Autosomal Recessive Woolly Hair/Hypotrichosis in Japan and the Genotype/Phenotype Correlations
- Methylenetetrahydrofolate reductase C677T mutation in patients with alopecia areata in Turkish population
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- A novel monilethrix mutation in coil 2A of KRT86 causing autosomal dominant monilethrix with incomplete penetrance
- A Japanese case of ichthyosis follicularis with atrichia and photophobia syndrome with an MBTPS2 mutation
- Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript