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Research 181–210 of 1000+
- Novel adenosine triphosphate (ATP)-binding cassette, subfamily A, member 12 (ABCA12) mutations associated with congenital ichthyosiform erythroderma
- Novel <i>ABCD1</i> Gene Mutation in Adrenomyeloneuropathy with Hypoplasia and Agenesis of the Corpus Callosum
- A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis
- Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
- Recent advances in the molecular mechanisms determining tissue sensitivity to glucocorticoids: novel mutations, circadian rhythm and ligand-induced repression of the human glucocorticoid receptor
- Growth of the Mouse Coat VII. Hair Cycles and Sebaceous Glands in Homozygous and Heterozygous Naked Mice
- Mice with a null mutation of the TGFα gene have abnormal skin architecture, wavy hair, and curly whiskers and often develop corneal inflammation
- Pleiotropic effects of the nude mutation.
- Novel Mutation in Sjögren-Larsson Syndrome Is Associated With Divergent Neurologic Phenotypes
- A Homozygous Missense Variant in K25 Underlying Overlapping Phenotype with Woolly Hair and Dental Anomalies
- A frameshift mutation in HTRA1 expands CARASIL syndrome and peripheral small arterial disease to the Chinese population
- Mutations in the Serum/Glucocorticoid Regulated Kinase 3 (Sgk3) Are Responsible for the Mouse Fuzzy (fz) Hair Phenotype
- Progeroide Syndrome
- An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
- Compound Heterozygous Mutations in the Hairless Gene in Atrichia with Papular Lesions
- Molecular Genetics of Alopecias
- Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa
- Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
- Hairless-knockout piglets generated using the clustered regularly interspaced short palindromic repeat/CRISPR-associated-9 exhibit abnormalities in the skin and thymus
- NIPAL4 mutation c.527C˃A identified in Romanian patients with autosomal recessive congenital ichthyosis
- Novel mutations in the keratin-74 (KRT74) gene underlie autosomal dominant woolly hair/hypotrichosis in Pakistani families
- MOUSE MODELS FOR THE STUDY OF HUMAN HAIR LOSS
- Identification of compound heterozygous mutations in <i>AP1B1</i> leading to the newly described recessive keratitis–ichthyosis–deafness (KIDAR) syndrome
- The retarded hair growth ( rhg ) mutation in mice is an allele of ornithine aminotransferase ( Oat )
- Homozygous whole body <i>Cbs</i> knockout in adult mice features minimal pathology during ageing despite severe homocysteinemia
- 414 A new form of ectodermal dysplasia caused by mutations in TSPEAR
- Defective trophoblast function in mice with a targeted mutation of Ets2
- Ichthyosis, Follicular Atrophoderma, and Hypotrichosis Caused by Mutations in ST14 Is Associated with Impaired Profilaggrin Processing
- A Missense Mutation within the Helix Termination Motif of KRT25 Causes Autosomal Dominant Woolly Hair/Hypotrichosis
- Human ClinicalPhenotype Associated with FOXN1 Mutations