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Search Results to Dennis R Roop

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Roop, Dennis

One or more keywords matched the following items that are connected to Roop, Dennis

Item Type	Name
Academic Article	Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens.
Academic Article	Genetic disorders of keratin: are scarring alopecias a sub-set?
Academic Article	Defects in the barrier.
Academic Article	A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
Academic Article	Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma.
Academic Article	Low frequency of codon 61 Ha-ras mutations and lack of keratin 13 expression in 7,12-dimethylbenz[a]-anthracene-induced hamster skin tumors.
Academic Article	Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
Academic Article	A transgenic mouse model that recapitulates the clinical features of both neonatal and adult forms of the skin disease epidermolytic hyperkeratosis.
Academic Article	A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma.
Academic Article	Prenatal diagnosis for keratin mutations to exclude transmission of epidermolytic hyperkeratosis.
Academic Article	Transgenic models of skin diseases.
Academic Article	A novel mutation in the 1A domain of keratin 2e in ichthyosis bullosa of Siemens.
Academic Article	Analysis of centrosome abnormalities and angiogenesis in epidermal-targeted p53172H mutant and p53-knockout mice after chemical carcinogenesis: evidence for a gain of function.
Academic Article	A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
Academic Article	An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis.
Academic Article	Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis.
Academic Article	Hot spot mutations in keratin 2e suggest a correlation between genotype and phenotype in patients with ichthyosis bullosa of Siemens.
Academic Article	Focal activation of a mutant allele defines the role of stem cells in mosaic skin disorders.
Academic Article	Interaction between dermal papilla and bulge: the rhino mouse mutation as a model system.
Academic Article	Epidermal differentiation: transgenic/knockout mouse models reveal genes involved in stem cell fate decisions and commitment to differentiation.
Academic Article	A novel substitution in keratin 10 in epidermolytic hyperkeratosis.
Academic Article	An inducible mouse model for skin cancer reveals distinct roles for gain- and loss-of-function p53 mutations.
Academic Article	Mice expressing a mutant Krt75 (K6hf) allele develop hair and nail defects resembling pachyonychia congenita.
Academic Article	Therapeutic siRNAs for dominant genetic skin disorders including pachyonychia congenita.
Academic Article	Disruption of epidermal specific gene expression and delayed skin development in AP-2 gamma mutant mice.
Academic Article	DeltaNp63 knockdown mice: A mouse model for AEC syndrome.
Academic Article	Transgenic coexpression of v-Ha-ras and transforming growth factor alpha increases epidermal hyperproliferation and tumorigenesis and predisposes to malignant conversion via endogenous c-Ha-ras activation.
Academic Article	Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma.
Academic Article	Gain-of-function mutant p53 but not p53 deletion promotes head and neck cancer progression in response to oncogenic K-ras.
Academic Article	Myc, Aurora Kinase A, and mutant p53(R172H) co-operate in a mouse model of metastatic skin carcinoma.
Academic Article	Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing.
Academic Article	Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations.
Academic Article	12-O-tetradecanoylphorbol-13-acetate promotion of transgenic mice expressing epidermal-targeted v-fos induces rasHA-activated papillomas and carcinomas without p53 mutation: association of v-fos expression with promotion and tumor autonomy.
Academic Article	Keap1-null mutation leads to postnatal lethality due to constitutive Nrf2 activation.
Academic Article	Characterization of the mouse loricrin gene: linkage with profilaggrin and the flaky tail and soft coat mutant loci on chromosome 3.
Academic Article	Functional analysis of activins during mammalian development.
Academic Article	Inducible activation of oncogenic K-ras results in tumor formation in the oral cavity.
Academic Article	Identification of sporadic mutations in the helix initiation motif of keratin 6 in two pachyonychia congenita patients: further evidence for a mutational hot spot.
Academic Article	Deregulated minichromosomal maintenance protein MCM7 contributes to oncogene driven tumorigenesis.
Academic Article	p63 heterozygous mutant mice are not prone to spontaneous or chemically induced tumors.
Academic Article	Conflicting roles for p63 in skin development and carcinogenesis.
Academic Article	Mouse models in preclinical studies for pachyonychia congenita.
Academic Article	TAp63alpha induces AP-2gamma as an early event in epidermal morphogenesis.
Academic Article	p63 directly induces expression of Alox12, a regulator of epidermal barrier formation.
Academic Article	IKKalpha is a p63 transcriptional target involved in the pathogenesis of ectodermal dysplasias.
Academic Article	International Research Symposium on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome.
Academic Article	Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models.
Academic Article	Consequences of exposure to initiating levels of carcinogens in vitro and in vivo: altered differentiation and growth, mutations, and transformation.
Academic Article	A spontaneous Fatp4/Scl27a4 splice site mutation in a new murine model for congenital ichthyosis.
Concept	Mutation
Concept	Point Mutation
Concept	Mutation, Missense
Concept	Frameshift Mutation
Academic Article	Epithelial stem cell mutations that promote squamous cell carcinoma metastasis.
Academic Article	Correction of Hair Shaft Defects through Allele-Specific Silencing of Mutant Krt75.
Academic Article	Defects in Stratum Corneum Desquamation Are the Predominant Effect of Impaired ABCA12 Function in a Novel Mouse Model of Harlequin Ichthyosis.
Grant	REGULATION AND FUNCTION OF KERATINS IN THE EPIDERMIS
Grant	The consequences of loricrin deficiency on epidermal barrier function
Grant	TESTING GENE THERAPY FOR EPIDERMOLYSIS BULLOSA SIMPLEX
Grant	Regulation and Function of Keratins in the Epidermis
Grant	Targeting Oncogene Expression to Skin in Transgenic Mice
Grant	Molecular Mechanisms of Skin and Appendage Development
Grant	Testing the Therapeutic Potential of iPS Cells for Inherited Skin Diseases
Grant	REGULATION AND FUNCTION OF A MAJOR CELL ENVELOPE PROTEIN
Academic Article	Mutations in Recessive Congenital Ichthyoses Illuminate the Origin and Functions of the Corneocyte?Lipid Envelope.
Academic Article	Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry.

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