Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton.

The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors and cultured cells

1982 • 5,272 citations

INTERMEDIATE FILAMENTS: Structure, Dynamics, Function and Disease

1994 • 1,408 citations

Changes in keratin gene expression during terminal differentiation of the keratinocyte

1980 • 1,059 citations

The nuclear lamina is a meshwork of intermediate-type filaments

1986 • 957 citations

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1991 • 647 citations

Increased expression of neurofilament subunit NF-L produces morphological alterations that resemble the pathology of human motor neuron disease

1993 • 550 citations

Progressive neuronopathy in transgenic mice expressing the human neurofilament heavy gene: A mouse model of amyotrophic lateral sclerosis

1993 • 549 citations

Absence of integrin α6 leads to epidermolysis bullosa and neonatal death in mice

1996 • 539 citations

Novel myosin heavy chain encoded by murine dilute coat colour locus

1991 • 534 citations

The Proteins Elafin, Filaggrin, Keratin Intermediate Filaments, Loricrin, and Small Proline-rich Proteins 1 and 2 Are Isodipeptide Cross-linked Components of the Human Epidermal Cornified Cell Envelope

1995 • 508 citations

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival.

1996 • 496 citations

Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration

1995 • 440 citations

Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

1991 • 426 citations

Compound Helical Configurations of Polypeptide Chains: Structure of Proteins of the α-Keratin Type

1953 • 419 citations

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

1991 • 413 citations

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1992 • 406 citations

Keratins and the Skin

1995 • 402 citations

Epithelial detachment due to absence of hemidesmosomes in integrin β4 null mice

1996 • 402 citations

Onset of re-epithelialization after skin injury correlates with a reorganization of keratin filaments in wound edge keratinocytes: defining a potential role for keratin 16.

1996 • 401 citations

Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia

1995 • 389 citations

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

1996 • 386 citations

Changes in Keratinocyte Maturation During Wound Healing

1987 • 375 citations

Mutations in the Rod Domains of Keratins 1 and 10 in Epidermolytic Hyperkeratosis

1992 • 370 citations

Tissue-specific and differentiation-specific expression of a human K14 keratin gene in transgenic mice.

1989 • 365 citations

Acidic and basic hair/nail ("hard") keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to "soft" keratins.

1986 • 362 citations

The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

1983 • 355 citations

The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes

1992 • 339 citations

Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments

1983 • 336 citations

The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins

1983 • 326 citations

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

1995 • 322 citations

Genetic and Clinical Mosaicism in a Type of Epidermal Nevus

1994 • 311 citations

Desmosomes and hemidesmosomes

1993 • 310 citations

Two distinct classes of keratin genes and their evolutionary significance

1981 • 309 citations

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

1996 • 302 citations

The cDNA sequence of a human epidermal keratin: Divergence of sequence but conservation of structure among intermediate filament proteins

1982 • 298 citations

An Essential Cytoskeletal Linker Protein Connecting Actin Microfilaments to Intermediate Filaments

1996 • 297 citations

A leucine→proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

1992 • 284 citations

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins.

1994 • 283 citations

Assembly of stratum corneum basic protein and keratin filaments in macrofibrils

1978 • 282 citations

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

1995 • 263 citations

Cell Adhesion Molecules as Targets of Autoantibodies in Pemphigus and Pemphigoid, Bullous Diseases Due to Defective Epidermal Cell Adhesion

1993 • 262 citations

Keratin Intermediate Filament Structure

1993 • 260 citations

The mouse dystonia musculorum gene is a neural isoform of bullous pemphigoid antigen 1

1995 • 250 citations

The epidermis: rising to the surface

1994 • 245 citations

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK)

1994 • 244 citations

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression.

1990 • 239 citations

The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.

1987 • 237 citations

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

1995 • 230 citations

Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy.

1996 • 227 citations

The fibrillar substructure of keratin filaments unraveled.

1983 • 219 citations

Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments.

1989 • 210 citations

The two-chain coiled-coil molecule of native epidermal keratin intermediate filaments is a type I-type II heterodimer.

1990 • 206 citations

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases.

1991 • 202 citations

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.

1994 • 200 citations

Molecular complexity of the cutaneous basement membrane zone

1996 • 199 citations

Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation.

1989 • 196 citations

The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells.

1992 • 194 citations

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis.

1992 • 178 citations

A functional "knockout" of human keratin 14.

1994 • 176 citations

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.

1996 • 172 citations

Structure of α-keratin: Structural implication of the amino acid sequences of the type I and type II chain segments

1977 • 169 citations

Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin.

1996 • 167 citations

Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

1990 • 165 citations

Chronic hepatitis, hepatocyte fragility, and increased soluble phosphoglycokeratins in transgenic mice expressing a keratin 18 conserved arginine mutant.

1995 • 161 citations

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations.

1992 • 152 citations

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

1995 • 149 citations

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

1994 • 145 citations

Mice expressing a mutant desmosomal cadherin exhibit abnormalities in desmosomes, proliferation, and epidermal differentiation.

1996 • 144 citations

A Mutation in the V1 End Domain of Keratin 1 in Non-Epidermolytic Palmar-Plantar Keratoderma

1994 • 144 citations

Epidermolysis bullosa herpetiformis Dowling-Meara. Report of a case and pathomorphogenesis.

1982 • 143 citations

A group of type I keratin genes on human chromosome 17: characterization and expression.

1988 • 142 citations

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.

1990 • 135 citations

Keratins of the human hair follicle: “Hyperproliferative” keratins consistently expressed in outer root sheath cells in vivo and in vitro

1987 • 135 citations

Intermediate filaments and disease: mutations that cripple cell strength.

1994 • 132 citations

Characterization of human cytokeratin 2, an Epidermal cytoskeletal protein synthesized late during differentiation

1992 • 129 citations

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex

1993 • 128 citations

The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro.

1992 • 127 citations

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.

1993 • 122 citations

Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus

1995 • 122 citations

Expression of plectin mutant cDNA in cultured cells indicates a role of COOH-terminal domain in intermediate filament association.

1993 • 117 citations

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

1993 • 112 citations

Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

1994 • 111 citations

Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain

1991 • 109 citations

Effects of Keratin 14 Ablation on the Clinical and Cellular Phenotype in a Kindred with Recessive Epidermolysis Bullosa Simplex

1996 • 108 citations

Ichthyosis Bullosa of Siemens–A Disease Involving Keratin 2e

1994 • 103 citations

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

1992 • 101 citations

Ichthyosis Bullosa of Siemens Is Caused by Mutations in the Keratin 2e Gene

1994 • 97 citations

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.

1994 • 97 citations

Chemical cross‐linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher‐level complex between protofilaments

1992 • 95 citations

Missing links: Weber–Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

1993 • 94 citations

Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene.

1990 • 91 citations

Epidermal keratin filaments assembled in vitro have masses-per-unit-length that scale according to average subunit mass: structural basis for homologous packing of subunits in intermediate filaments.

1983 • 84 citations

Overlapping Distribution of Autoantibody Specificities in Paraneoplastic Pemphigus and Pemphigus Vulgaris

1994 • 83 citations

Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex

1994 • 76 citations

A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

1993 • 75 citations

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

1989 • 74 citations

The hemidesmosomal plaque

1990 • 73 citations

Keratin 14 Gene Mutations in Patients with Epidermolysis Bullosa Simplex

1995 • 66 citations

Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

1993 • 63 citations

A mutation (met→arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex

1993 • 62 citations

Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12

1991 • 62 citations

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13

1995 • 54 citations

A family of type I keratin genes and the homeobox-2 gene complex are closely linked to the rex locus on mouse chromosome 11

1989 • 49 citations

Linkage of Monilethrix to the Trichocyte and Epithelial Keratin Gene Cluster on 12q11-q13

1996 • 42 citations

A Group of Type I Keratin Genes on Human Chromosome 17: Characterization and Expression

1988 • 38 citations

A novel mutation of Leu¹²² to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bultosa simplex

1994 • 27 citations

Genetic Analysis of a Severe Case of Dowling-Meara Epidermolysis Bullosa Simplex

1996 • 22 citations

Structural Features of Epidermal Keratin Filaments Reassembled in Vitro

1983 • 15 citations