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Research 91–120 of 1000+
- Two females with hair loss
- What causes hidradenitis suppurativa ?—15 years after
- Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- Mutations in SNRPE, which Encodes a Core Protein of the Spliceosome, Cause Autosomal-Dominant Hypotrichosis Simplex
- 301 Whole exome sequencing in AA patients identifies a hotspot mutation in the type II hair keratin gene, KRT82
- The “Bald Mill Hill” Mutation in the Mouse Is Associated with an Abnormal, Mislocalized HR bmh Protein
- A Missense Mutation within the Helix Initiation Motif of the Keratin K71 Gene Underlies Autosomal Dominant Woolly Hair/Hypotrichosis
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament
- Hair shaft miniaturization causes stem cell depletion through mechanosensory signals mediated by a Piezo1-calcium-TNF-α axis
- Cantú Syndrome Is Caused by Mutations in ABCC9
- Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
- A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome
- A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
- Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- A Case of Tricho-rhino-phalangeal Syndrome Caused by a Novel Heterozygous Nonsense Mutation in the TRPS1 Gene
- Age-Related Changes in Hair Shaft Protein Profiling and Genetically Variant Peptides
- Atrichia Caused by Mutations in the Vitamin D Receptor Gene is a Phenocopy of Generalized Atrichia Caused by Mutations in the Hairless Gene
- Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
- A novel PLEC nonsense homozygous mutation (c.7159G > T; p.Glu2387*) causes epidermolysis bullosa simplex with muscular dystrophy and diffuse alopecia: a case report
- The Critical Roles of Serum/Glucocorticoid-Regulated Kinase 3 (SGK3) in the Hair Follicle Morphogenesis and Homeostasis
- Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- CDH3 gene related hypotrichosis and juvenile macular dystrophy – A case with a novel mutation
- Mutations in the vitamin D receptor and hereditary vitamin D-resistant rickets
- Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
- Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype