Search
for
Sort by
Research 211–240 of 868
- ABCD1 Gene Mutations: Mechanisms and Management of Adrenomyeloneuropathy
- Desmoglein 4 Mutations Underlie Localized Autosomal Recessive Hypotrichosis in Humans, Mice, and Rats
- Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
- Disease causing homozygous variants in the human hairless gene
- Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
- Cutaneous Lymphadenoma Is a Distinct Trichoblastoma-like Lymphoepithelial Tumor With Diffuse Androgen Receptor Immunoreactivity, Notch1 Ligand in Reed-Sternberg–like Cells, and Common EGFR Somatic Mutations
- Skin transcriptomic and selection signature analyses identify ASIP as a key gene in cattle coat color determination
- Case report: Heterozygous mutation in HTRA1 causing typical cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy
- A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
- EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
- Four Independent Mutations in the Feline Fibroblast Growth Factor 5 Gene Determine the Long-Haired Phenotype in Domestic Cats
- Novel splicing‐site mutation in <i>DCAF17</i> gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
- Next-generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
- Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix
- Targeted transgenic expression of the mutation causing Hutchinson-Gilford progeria syndrome leads to proliferative and degenerative epidermal disease
- Loss-of-Function Mutations in HOXC13 Cause Pure Hair and Nail Ectodermal Dysplasia
- Olmsted Syndrome Caused by a Homozygous Recessive Mutation in TRPV3
- Atrichia with papular lesions in two Pakistani consanguineous families resulting from mutations in the human hairless gene
- Systematic analysis of somatic mutations driving cancer: uncovering functional protein regions in disease development
- Four hypotrichosis families with mutations in the gene <i>LSS</i> presenting with and without neurodevelopmental phenotypes
- Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
- Two siblings with a novel nonsense mutation, p.R50X, in the vitamin D receptor gene
- Mandibulofacial dysostosis with alopecia results from ETAR gain-of-function mutations via allosteric effects on ligand binding
- Two novel <i>BTD</i> mutations causing profound biotinidase deficiency in a Chinese patient
- Therapeutic inhibition of keratinocyte TRPV3 sensory channel by local anesthetic dyclonine
- Fetal alpha 5-reductase Val89Leu mutation is associated with late miscarriage
- Novel compound heterozygous cadherin 3 mutations in hypotrichosis and juvenile macular dystrophy
- An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient
- Identification of a novel homozygous LAMB3 mutation in a Chinese male with junctional epidermolysis bullosa and severe urethra stenosis: A case report
- The naked truth: Sphynx and Devon Rex cat breed mutations in KRT71