L T Smith
Affiliation: University of Washington
- Ontogeny and regional variability of keratin 2e (K2e) in developing human fetal skin: a unique spatial and temporal pattern of keratin expression in developmentL T Smith
Department of Medicine, University of Washington, Box 356524, Seattle WA 98195, USA
Br J Dermatol 140:582-91. 1999..This study shows that the complex patterns of temporal and regional expression of K2e differ from known patterns for other epidermal keratins and suggest different regulation and function for this epidermal keratin...
- Ultrastructural study of mitochondria and their cristae in embryonic rats and primate (N. nemistrina)T H Shepard
School of Medicine, Department of Pediatrics, University of Washington, Seattle 98195 6320, USA
Anat Rec 252:383-92. 1998..In the heart of monkey and rat embryos, the mitochondria had diameters which were approximately twice those found in skin and neural tube...
- Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagenP H Byers
Department of Pathology, University of Washington, Seattle 98195 7470, USA
Am J Med Genet 72:94-105. 1997..These new findings expand the array of mutations known to cause EDS type VII and provide insight into genotype/phenotype relationships in these genes...
- The calcium-activated neutral protease calpain I is present in normal foetal skin and is decreased in neonatal harlequin ichthyosisM Michel
Department of Oral Biology, University of Washington, Seattle, WA 98195 7132, USA
Br J Dermatol 141:1017-26. 1999..Our results show that calpain is present throughout the epidermis and is expressed from the early stages of development. These findings implicate calcium-mediated signalling events in the alteration of differentiation that occurs in HI...
- Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1V P Sybert
Departments of Pediatrics, University of Washington School of Medicine, Children s Hospital and Medical Center, Division of Dermatology, CH 25, 4800 Sand Point Way NE, P O Box 5371, Seattle, WA 98105, USA Julie S
Am J Hum Genet 64:732-8. 1999..These findings reveal that a clinical phenotype distinct from classic BCIE but with similar histology can result from K1 mutations and that mutations at this codon give rise to a clinically unique condition...
- Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patientsR J Livingston
Department of Pathology, University of Washington, Seattle, Washington 98195, USA
J Invest Dermatol 116:970-4. 2001..The remarkable occurrence of severe palmar--plantar hyperkeratosis in both patients suggests that the keratin 5 tail domain may have unrecognized, but important, normal functions in palmar-plantar tissues...
- The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)W Reardon
Department of Paediatric Genetics, Hospital for Children, London, UK
Clin Dysmorphol 4:1-11. 1995..The striking skin fragility which attends the phenotype is highly distinctive, so that the diagnosis may be suspected on clinical grounds. The confirmatory diagnostic procedures are discussed...
- Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesisT R Kyriakides
Department of Biochemistry, University of Washington, Seattle, Washington 98195, USA
J Cell Biol 140:419-30. 1998....
- Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermisL T Smith
Department of Dermatology, University of Washington, Seattle 98195, U S A
J Invest Dermatol 108:241-7. 1997..These findings indicate that mutations in the COL3A1 gene have effects on secretion, fibrillogenesis, and skin architecture that reflect the position and nature of the mutation...
- Differential targets of CpG island hypermethylation in primary and metastatic head and neck squamous cell carcinoma (HNSCC)D J Smiraglia
Division of Human Cancer Genetics, Department of Molecular Virology, Immunology and Medical Genetics, and Comprehensive Cancer Center, The Ohio State University, Columbus, Ohio 43210, USA
J Med Genet 40:25-33. 2003..We discuss two possible explanations for how different epigenetic events might arise between the primary tumour and the metastatic tumour of a person...