A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
about
A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament proteinDominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagenA mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail typeEpidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton functionIsolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophyDefining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermathProgress in epidermolysis bullosa: the phenotypic spectrum of plectin mutationsMissing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton functionMouse homologues of human hereditary disease.The dento-epithelial junction: cell adhesion by type I hemidesmosomes in the absence of a true basal lamina.Molecular pathology of the cutaneous basement membrane zone.Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation.Ichthyosis bullosa of Siemens resulting from a novel missense mutation near the helix termination motif of the keratin 2e gene.Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).The genetics of human skin disease.Human keratin diseases: hereditary fragility of specific epithelial tissues.Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis.Expression of p75(NGFR), a Proliferative and Basal Cell Marker, in the Buccal Mucosa Epithelium during Re-epithelializationKeratins and skin disorders.Intermediate filaments and disease: mutations that cripple cell strength.A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy.Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility.Blistering disease: insight from the hemidesmosome and other components of the dermal-epidermal junction.Epidermal cell junctions and their regulation by p63 in health and disease.Keratin gene mutations in human skin disease.Re-epithelialization of the Buccal Mucosa after Alkaline Chemical Injury.Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.Interactions within the coiled-coil domain of RetGC-1 guanylyl cyclase are optimized for regulation rather than for high affinity.Epidermolysis bullosa simplex Dowling-Meara due to an arginine to cysteine substitution in exon 1 of keratin 14.Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs.Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer
P2860
Q24306295-2071B5D3-0793-46EA-BE01-840F3A4B6ACCQ24312098-97DAE1A0-B426-4689-87F2-E4917DAF568FQ24655884-59657A89-B620-4633-AAF4-98C97BEFCFF3Q24673017-72C4998E-C489-4706-90B2-987D1F0B5759Q24677029-BE7590DC-BB36-4386-8DAC-215F380EE796Q26852211-C92E38FE-95DE-4B6F-8322-B6E8CD5A66D0Q28243587-68E4D72A-1CDF-4E33-9B9E-ABEC20FBCAC5Q28285508-2EC48330-EBD5-40B4-8314-D812A985B11AQ30495383-AA548893-230B-4A3A-88B4-C4367BAF4BADQ30687693-87F49A6E-ACD2-44B2-9599-F4BB4C7F3866Q33610960-CC2AF1AE-45C4-4054-B8BA-C8E36A1BA367Q33650116-263A5420-9142-451D-ADBA-E817C40BD5ADQ33880598-BABFF5F1-CBB4-4847-AF0D-0EFD08BBB5E0Q34291582-8A89AF55-CE51-4C4E-A87C-4D98066C02BBQ34355367-6B5FB4D8-DADC-4D15-BC23-6B2C14A38E9EQ34416078-151BAA05-4651-4E43-9CF1-35293334EACFQ34560073-8D3751E8-79B4-4309-96D9-14F2153F5C68Q35416343-38476B71-7E4B-450E-86B3-D17262DE9F11Q35923500-BDC611CC-C8FF-48E9-8D9E-21DAB8A5F9BAQ36233886-5B80EE5E-5828-4D96-88A6-F02C940AF29CQ37361311-8B8411D0-AC44-428C-B0E1-463FE4EC132BQ37545183-6FB81D25-9994-47EA-95DD-95FF4473DE72Q38287144-556D9E7D-5864-4E36-A4C6-13819F6E85B5Q38341838-55AE7DBD-F13F-42BD-9ADB-084F411E3F4CQ38634647-34E6353D-2794-4A3F-970A-B2F0B143C185Q39302468-5CCB1822-D935-46EB-A6FD-5AF7E3D8F6C6Q40243273-AE1B31D5-613A-44D5-882D-A3C40DBB00E1Q42485419-A6D999DE-637B-4EB5-B542-515113655632Q43578129-B67B85AB-9048-41FA-A0E6-F78787B29F00Q43899060-EF5ED6EA-B309-47F1-8C21-35F923FFDFA6Q54659856-244664FA-8FEC-4D72-B151-1FAA6F798E4BQ58438644-231DA653-2D97-43A9-8058-F0DFD95C4C52
P2860
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
description
1993 nî lūn-bûn
@nan
1993 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
1993 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
1993年の論文
@ja
1993年論文
@yue
1993年論文
@zh-hant
1993年論文
@zh-hk
1993年論文
@zh-mo
1993年論文
@zh-tw
1993年论文
@wuu
name
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@ast
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@en
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@nl
type
label
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@ast
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@en
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@nl
prefLabel
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@ast
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@en
A missense mutation in the rod ...... epidermolysis bullosa simplex.
@nl
P2093
P2860
P356
P1433
P1476
A missense mutation in the rod ...... epidermolysis bullosa simplex
@en
P2093
P2860
P2888
P304
P356
10.1038/NG0493-327
P407
P577
1993-04-01T00:00:00Z