• Because of this the phenotype of disorders caused by keratin gene mutations varies greatly depending upon the particular keratin that is mutated. (coek.info)
  • Shortly thereafter keratin mutations were identified in different forms of bullous ichthyosis. (coek.info)
  • Genetic mutations cause epidermolysis bullosa. (medicinenet.com)
  • To report potentially pathogenic mutations in the keratin 3 ( KRT3 ) and keratin 12 ( KRT12 ) genes in two individuals with clinically diagnosed Meesmann corneal dystrophy (MECD). (molvis.org)
  • As corneal keratins naturally occur as obligate K3/K12 heterodimers, gene mutations altering the encoded protein of either KRT3 or KRT12 are expected to negatively impact the K3/K12 heterodimer complex. (molvis.org)
  • The diseases are caused by mutations (changes) in the genes responsible for the production of certain proteins that make the skin strong and elastic, such as collagen or keratins. (europa.eu)
  • This medicine is prepared individually for patients who have epidermolysis bullosa due to mutations in the COL7A1 gene. (europa.eu)
  • In particular, KLHL24 mutations were associated with irregular and fragmented keratin 14. (uzh.ch)
  • Genetic mutations that affect the primary structure of individual keratin proteins compromise this role and underlie several inherited blistering diseases in which epithelial cells are rendered fragile and rupture readily upon exposure to physical stress. (coulombelab.com)
  • Mutations KRT5 have been shown to result in the autosomal dominant disorder epidermolysis bullosa (EB). (zeta-corp.com)
  • She established the link between keratin gene mutations and human skin fragility diseases , and led a team that identified the basis of more than 15 distinct inherited skin disorders. (skinsoc.org.sg)
  • In most cases it is inherited from the parents, but it can also be the result of a random mutation of genes that are responsible for expressing keratin. (cosmeticlaserskinsurgery.com)
  • Mutant keratin genes introduced into transgenic mice mimicked the diseases. (coek.info)
  • Epidermolysis bullosa is due to one or multiple defective genes that normally synthesize structural proteins that are involved in the adherence of the epidermis (the superficial layer of skin) to the dermis (the deeper layer of the skin). (medicinenet.com)
  • Using the source a bit more to explain what each gene and each zone of genes mean will be helpful, as we currently have no particular examples of a hair keratin. (wikipedia.org)
  • The human genome encodes 54 functional keratin genes , located in two clusters on chromosomes 12 and 17. (wikipedia.org)
  • This model was used to determine genes associated with cell adhesion and communication such as E-cadherin, the desmocollin 3, the gap junction protein alpha 1, the Integrin alpha 6, the Integrin beta 6, the Keratin 14, Keratin 16, Keratin 17, Keratin 6B, and the laminin beta 3. (bvsalud.org)
  • Results indicated that most genes had greater expression in the tumorigenic cell line Tumor2 derived from the athymic animal than the Alpha3, a non-tumorigenic cell line exposed only to radiation, indicating that altered expression levels of adhesion molecules depended on estrogen. (bvsalud.org)
  • In this review, we have discussed the keratinization that occurs in the stratum corneum that follows mutation in the keratin gene "rare disease" pachyonychia congenital an autosomal dominant disorder or hereditary syndrome by any one of a missense mutation in keratin genes such as KRT6A, KRT6B, KRT16 and KRT17. (ijpsr.com)
  • Research in the laboratory focuses on the regulation of cell differentiation and tissue homeostasis in complex epithelia such as skin, which we study from the perspective of keratin intermediate filament genes and proteins. (coulombelab.com)
  • Recently, we discovered that keratin proteins occur in the nucleus, where they are bound to promoters of and regulate the expression of specific genes involved in inflammation and immune responses, and also participate in the regulation of the redox balance in skin keratinocytes. (coulombelab.com)
  • It dimerizes with keratin 14 and forms the intermediate filaments (IF) that make up the cytoskeleton of basal epithelial cells. (wikipedia.org)
  • Keratin intermediate filaments make up the cytoskeletal scaffold within epithelial cells, which contributes to the cell architecture and provides the cells with the ability to withstand mechanical, and non-mechanical, stresses. (wikipedia.org)
  • While abnormal keratin filament structure and function can explain hypohidrosis and epithelial differentiation abnormalities, the absence of dermatoglyphics is not well understood. (medscape.com)
  • A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. (lookformedical.com)
  • A malignant neoplasm made up of epithelial cells tending to infiltrate the surrounding tissues and give rise to metastases. (lookformedical.com)
  • A primary malignant neoplasm of epithelial liver cells. (lookformedical.com)
  • It ranges from a well-differentiated tumor with EPITHELIAL CELLS indistinguishable from normal HEPATOCYTES to a poorly differentiated neoplasm. (lookformedical.com)
  • A malignant neoplasm characterized by the formation of numerous, irregular, finger-like projections of fibrous stroma that is covered with a surface layer of neoplastic epithelial cells. (lookformedical.com)
  • It represents a large group of epithelial lung malignancies which can be divided into two clinical groups: SMALL CELL LUNG CANCER and NON-SMALL-CELL LUNG CARCINOMA . (lookformedical.com)
  • They belong to the intermediate filament molecules and play an important role in maintaining the structural integrity of epithelial cells. (coek.info)
  • The distribution patterns of these complexes differ considerably in different epithelial cells, so that the origin of these cytokeratins can be narrowed down with an antibody detection against the subtypes KRT1 to KRT20. (zxc.wiki)
  • Keratin also protects epithelial cells from damage or stress. (wikipedia.org)
  • They are also present in epithelial cells in general. (wikipedia.org)
  • For example, mouse thymic epithelial cells react with antibodies for keratin 5, keratin 8, and keratin 14. (wikipedia.org)
  • These antibodies are used as fluorescent markers to distinguish subsets of mouse thymic epithelial cells in genetic studies of the thymus . (wikipedia.org)
  • An in vitro experimental breast cancer model was developed by exposure of the immortalized human breast epithelial cell line MCF-10F to low doses of high linear energy transfer α particle radiation and subsequent growth in the presence of 17ß-estradiol. (bvsalud.org)
  • A major role of keratin filaments is to endow epithelial cells and tissues with the ability to withstand mechanical and other forms of stresses. (coulombelab.com)
  • Also, the laboratory discovered a role for keratin proteins in the regulation of protein synthesis and epithelial cell growth, and in the regulation of inflammation and innate and acquired immunity, in skin tissue. (coulombelab.com)
  • He has been studying epithelial biology from the perspective of keratin regulation and function since 1988, when he joined Elaine Fuchs' laboratory at the University of Chicago for postdoctoral training. (coulombelab.com)
  • The present research was designed to characterize L-Citrulline transport throughout the apical filters involving kidney epithelial tubular cells, utilizing primary-cultured rat renal proximal tubular tissue, as well as the individual renal system proximal tubular mobile line HK-2. (bms-387032inhibitor.com)
  • Cytokeratins play a critical role in differentiation and tissue specialization and function to maintain the overall structural integrity of epithelial cells. (zeta-corp.com)
  • lt;p>Congenital epidermolysis bullosa is a clinically and genetically heterogenous group of hereditary skin diseases characterized by the formation of bullae and/or erosions in response to insignificant mechanical effect. (vestnikdv.ru)
  • At the hemidesmosome, plectin and BPAG1 associate with transmembrane proteins α6β4 integrin, a type of cell adhesion molecule, and BP180/collagen XVII, linking K5/K14 filaments in the basal cells to the basal lamina. (wikipedia.org)
  • Their mechanism of action is dominant negative interference, with the mutated keratin proteins interfering with the structure and integrity of the cytoskeleton. (wikipedia.org)
  • DNA does this by telling your cells how to make proteins that create all the structures and functions in your body. (cosmeticlaserskinsurgery.com)
  • Another term for this group of conditions is 'mechanobullous disease,' which distinguishes it from conditions that may appear superficially similar but are produced by autoimmune destruction of some of the same proteins that are defective in epidermolysis bullosa. (medicinenet.com)
  • Keratin ( / ˈ k ɛr ə t ɪ n / [1] [2] ) is one of a family of structural fibrous proteins also known as scleroproteins . (wikipedia.org)
  • Ionizing radiation can modify and damage DNA, RNA, and cell membrane components such as lipids and proteins by direct ionization. (bvsalud.org)
  • In parallel, his laboratory uncovered and characterized several novel, non-canonical functions for keratin proteins in studies focused on the wound-repair associated keratins - i.e., the K6 paralogs, K16 and K17 - whose expression is also markedly elevated in acute and chronic inflammatory skin conditions and in cancer. (coulombelab.com)
  • Professor Birgitte Lane's research career has been distinguished for her contribution to the understanding of the structure and function of the keratin cytoskeleton , the subcellular system of nanofilamentous proteins that give tissues their resilience and strength, with special focus on the biology of the skin. (skinsoc.org.sg)
  • Depending on the type, the genetic mutation affects how different proteins in your skin, such as keratin, laminin, or collagen, are made. (born-wild.com)
  • Keratin 5 (and K14) are expressed primarily in basal keratinocytes in the epidermis, specifically in the stratified epithelium lining the skin and digestive tract. (wikipedia.org)
  • In this study, we examine how crosstalk between the cytolinker plectin and F-actin controls keratin network organisation and the 3D nuclear morphology of keratinocytes. (lsbu.ac.uk)
  • In this, keratinocytes directly convert into corneocytes, i.e., a non-nucleated cell and move stratum corneum to stratum basal. (ijpsr.com)
  • Keratinocytes were packed with protein and converted into the hard cell, generating unique keratin structurally and functionally 2, 3 . (ijpsr.com)
  • On 27 February 2017, orphan designation (EU/3/17/1835) was granted by the European Commission to Ser-mes Planificación SL, Spain, for ex-vivo-expanded autologous keratinocytes transduced with retroviral vector containing the COL7A1 gene (also known as EB-101) for the treatment of epidermolysis bullosa. (europa.eu)
  • The medicine consists of patient's own skin cells called keratinocytes, which are modified in the laboratory with a virus that has been engineered to transfer the normal COL7A1 gene into the cells. (europa.eu)
  • We have discovered that keratins impact the survival, growth, and architecture of keratinocytes in skin epithelia, and that such contributions can be critically important during wound repair, in the lifelong growth cycle of hair follicles, and in the context of cancer, psoriasis, and related diseases. (coulombelab.com)
  • As an independent investigator appointed at the Johns Hopkins University since 1992, Dr. Coulombe has made several important contributions to our understanding of the structural support function provided by keratin filaments at a biochemical, biophysical, and structural levels, mainly through studies of K5-K14 filaments in basal layer keratinocytes and their defects in EBS. (coulombelab.com)
  • In contrast, clonogenic capability ended up being damaged in both IR- as well as IGF-1R-deficient major keratinocytes, concomitant with an within vivo loss of keratin 20. (bms-387032inhibitor.com)
  • The cells that migrate outward become the two major cell types of cells that form the skin: keratinocytes and melanocytes. (beltina.org)
  • The primary cells of the skin's surface layer, the epidermis, are melanocytes, which produce the pigment melanin, and keratinocytes, which produce the fibrous protein keratin. (beltina.org)
  • They include endothelial cells, fibroblasts, and keratinocytes. (frontiersin.org)
  • The epidermis itself is made of multiple layers of developing keratinocytes - which are flat pancake-shaped cells that are named for the keratin protein that they're filled with. (osmosis.org)
  • Keratinocytes start their life at the lowest layer of the epidermis called the stratum basale, or basal layer which is made of a single layer of stem cells, called basal cells that continually divide and produce new keratinocytes. (osmosis.org)
  • Epidermolysis bullosa acquisita (another condition) is an inappropriately named example of an autoimmune problem that really does not belong in the discussion of mechanobullous diseases. (medicinenet.com)
  • The outcomes get the little GTPase Rac as being a key focus on of epidermis IR/IGF-1R signalling important for proliferative prospective and interfollicular morphogenesis.Epidermolysis bullosa acquisita (EBA) is often a read more long-term mucocutaneous auto-immune skin color extreme condition. (bms-387032inhibitor.com)
  • K5/K14 intermediate filaments are anchored to the desmosomes of basal cells via desmoplakin and plakophilin-1, connecting the cells to their neighbours. (wikipedia.org)
  • Before cornification and generally in epithelia of vertebrates and other animal groups, α-keratins (or cytokeratins) are in the form of loosely organized keratin filaments. (zxc.wiki)
  • These belong to the intermediate filaments which, together with microtubules and microfilaments, form the cytoskeleton of the eukaryotic cells. (zxc.wiki)
  • Keratin monomers assemble into bundles to form intermediate filaments , which are tough and form strong unmineralized epidermal appendages found in reptiles , birds , amphibians , and mammals . (wikipedia.org)
  • Keratins (also described as cytokeratins ) are polymers of type I and type II intermediate filaments that have been found only in chordates ( vertebrates , amphioxus , urochordates ). (wikipedia.org)
  • The severity of EBS has been observed to be dependent upon the position of the mutation within the protein, as well as the type of keratin (K5 or K14) that contains the mutation. (wikipedia.org)
  • A nonsense mutation in a corresponding region of KRT5 has been found in Dowling-Degos disease and a missense mutation in the V1 domain of KRT5 has been described in patients with epidermolysis bullosa with mottled pigmentation. (medscape.com)
  • These observations support a mutation in a basal keratin gene as causing both blistering and pigmentary disorders. (medscape.com)
  • Epidermolysis bullosa (EB) is caused by a gene mutation that makes skin more fragile. (born-wild.com)
  • Type II pachyonychia congenital or type II keratin (k1-k8) keratin gene with chromosomal loci that were clustered and has been located on 12q11q-14. (ijpsr.com)
  • Additional features shared by JEB and the other major forms of epidermolysis bullosa (EB) include congenital localized absence of skin (aplasia cutis congenita), milia, nail dystrophy, scarring alopecia, hypotrichosis, pseudosyndactyly, and other contractures. (nih.gov)
  • Congenital epidermolysis bullosa: modern methods of diagnosis and therapy. (vestnikdv.ru)
  • Methods of gene therapy are the most promising direction to study, since they can affect the cause of congenital epidermolysis bullosa. (vestnikdv.ru)
  • a Ten primary RDEB-related cSCCs stained for EGFR and keratin 14. (biomedcentral.com)
  • this finding indicates that the gene for NFJ syndrome is not located in the epidermal differentiation complex, the type II keratin cluster, or the desmosomal cadherin cluster, respectively. (medscape.com)
  • The expression of keratins is differentiation and body site specific. (coek.info)
  • She pioneered the development and use of monoclonal antibodies to keratins as markers of differentiation in health and disease, and key tools in diagnostic pathology. (skinsoc.org.sg)
  • Likewise, they have the ability to activate the angiogenesis, proliferation, migration, and differentiation of the main cell types involved in skin regeneration. (frontiersin.org)
  • Keratin 5, also known as KRT5, K5, or CK5, is a protein that is encoded in humans by the KRT5 gene. (wikipedia.org)
  • Keratin 5, like other members of the keratin family, is an intermediate filament protein. (wikipedia.org)
  • Spider silk is classified as keratin, [9] although production of the protein may have evolved independently of the process in vertebrates. (wikipedia.org)
  • The new term corneous beta protein (CBP) has been proposed to avoid confusion with α-keratins. (wikipedia.org)
  • Keratin is a structural protein from the intermediate filament network, i.e., responsible for maintaining the keratinocyte's structural integrity. (ijpsr.com)
  • Keratin 16 is a type I intermediate filament protein present on the tongue, hair follicle and a part of glabrous skin 1 . (ijpsr.com)
  • Cytokeratin and keratin 16 make a protein, i.e., filaggrin (protein maker). (ijpsr.com)
  • About 54 members of related protein were present in a keratin family. (ijpsr.com)
  • Keratin is a protein found in nails, hair and skin that forms tough fibers for strength. (ijpsr.com)
  • This type of the condition is caused by genetic defects in keratin, a protein which is an important structural component of the skin. (entclinic.com.au)
  • Hair is composed of protein which is called keratin, produced in the hair follicles. (naturalayurvedictreatment.com)
  • Basal cells are attached to the basement membrane by hemidesmosomes, a protein complex that stems from the bottom of the basal cells. (osmosis.org)
  • Epidermolysis bullosa is a group of inherited diseases of the skin, in which the skin is very fragile and forms severe blisters after even minor friction (rubbing) or injury. (europa.eu)
  • In epidermolysis bullosa, blisters form on the skin following minor skin trauma, such as bumping into objects, sitting on hard surfaces and walking. (entclinic.com.au)
  • The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechanically induced formation of skin blisters, is largely known, but a number of cases still remain genetically unsolved. (uzh.ch)
  • The transmission of mechanical forces to the nucleus is important for intracellular positioning, mitosis and cell motility, yet the contribution of specific components of the cytoskeleton to nuclear mechanotransduction remains unclear. (lsbu.ac.uk)
  • Disruption of the keratin cytoskeleton through loss of plectin facilitated greater nuclear deformation, which depended on acto-myosin contractility. (lsbu.ac.uk)
  • Nuclear morphology did not depend on direct linkage of the keratin cytoskeleton with the nuclear membrane, rather loss of plectin reduced keratin filament density around the nucleus. (lsbu.ac.uk)
  • BCC is a non-melanocytic skin cancer that arises from basal cells that are small, round cells found in the lower layer of the epidermis. (medthical.com)
  • Both types of cells arise from the base level of the epidermis, the stratum germinativum ("birth"), also called the basal level or the Malpighian level. (beltina.org)
  • Type I pachyonychia congenita or type I keratin (k9-k20) keratin gene with two chromosomal loci that were clustered on 17q12 and q21 chromosomes. (ijpsr.com)
  • b Quantification of the mean EGFR staining in tumor sections after normalization to keratin 14 staining in adjacent sections. (biomedcentral.com)
  • A lesion with cytological characteristics associated with invasive carcinoma but the tumor cells are confined to the epithelium of origin, without invasion of the basement membrane. (lookformedical.com)
  • A cell line derived from cultured tumor cells. (lookformedical.com)
  • Basal cell carcinomas (BCC) represent the most frequent malignant cutaneous tumor, the location of which always determines the surgical treatment to employ. (coek.info)
  • and v) impacting the course of tumorigenesis in vivo and of tumor cell properties ex vivo. (coulombelab.com)
  • We study the biochemical and structural determinants of this vital role, and are pursuing novel approaches to treat keratin-based genetic diseases. (coulombelab.com)
  • Due to the fact that K5 expression is only seen in basal cells, it serves as an important biomarker for screening patients with basal-like breast cancers to ensure that they are not receiving ineffective treatment. (wikipedia.org)
  • Phase 2 Trial of a Neurokinin-1 Receptor Antagonist for the Treatment of Chronic Itch in Epidermolysis Bullosa Patients: A Randomized Clinical Trial. (stanford.edu)
  • Assessment of the Timing of Milestone Clinical Events in Patients with Epidermolysis Bullosa from North America. (stanford.edu)
  • At the time of submission of the application for orphan designation , clinical trials with this medicine in patients with epidermolysis bullosa were ongoing. (europa.eu)
  • with death usually resulting from complications of the disorder itself or due to squamous cell carcinoma. (entclinic.com.au)
  • It is often tested in conjunction with keratin 6, using CK5/6 antibodies, which target both keratin forms. (wikipedia.org)
  • Bullous pemphigoid is a type II hypersensitivity reaction , which is when the immune system produces antibodies that bind to the body 's own cells. (osmosis.org)
  • Immune cells called B cells produce IgG antibodies , which are Y shaped molecules with 2 regions, an antigen binding fragment region - or Fab region , and fragment crystallizable region or Fc region . (osmosis.org)
  • Molecular products metabolized and secreted by neoplastic tissue and characterized biochemically in cells or body fluids. (lookformedical.com)
  • It probes the study of the cell and molecular biology. (adejournal.com)
  • Has C., Nyström A., Saeidian A. H., BrucknerTuderman L., Uitto J. Epidermolysis bullosa: Molecular pathology of connective tissue components in the cutaneous basement membrane zone. (vestnikdv.ru)
  • Connective tissue holds the cells of our body together. (born-wild.com)
  • Epidermolysis bullosa is a long-term debilitating and life-threatening condition because the severe blistering and associated scarring and deformities result in poor quality of life and may also reduce life expectancy. (europa.eu)
  • It is characterized by abnormal hardening of skin cells on the outer layer of the skin. (cosmeticlaserskinsurgery.com)
  • The process, keratinization, is the same as well healthy skin cells are converted into fingernails, except with Darier-White disease, it happens in other places along the skin. (cosmeticlaserskinsurgery.com)
  • Epidermolysis bullosa: A condition that causes the skin to blister at the slightest pressure or temperature change. (cosmeticlaserskinsurgery.com)
  • The keratin is what binds the skin layers together with strength and structure. (cosmeticlaserskinsurgery.com)
  • Normally, the older skin cells (stratum corneum) protect the younger skin cells (kerathinocytes). (cosmeticlaserskinsurgery.com)
  • Epidermolysis bullosa is a group of inherited conditions that affect the supporting tissue of the skin and mucosa. (medicinenet.com)
  • Epidermolysis bullosa is a rare group of inherited conditions that causes fragile skin that tends to blister easily. (medicalnewstoday.com)
  • The modified cells are grown in a layer to make a skin graft that can be surgically transplanted back to the patient. (europa.eu)
  • Epidermolysis bullosa is a blistering skin disease which is usually first noticed during early childhood. (entclinic.com.au)
  • This is because the skin of sufferers of epidermolysis bullosa is highly fragile. (entclinic.com.au)
  • Basal cell carcinoma (BCC) and cutaneous squamous cell carcinoma (cSCC) are the first and second most common types of skin cancer, respectively. (medscape.com)
  • Cutaneous squamous cell carcinoma (cSCC) is the second most common skin cancer and one of the most common cancers overall in the United States. (medscape.com)
  • Here again, the laboratory is interested in assessing whether targeting keratin expression is of interest when developing novel therapies for chronic skin disorders and cancer. (coulombelab.com)
  • Beyond A*STAR, she established an academic society for skin research in Singapore, the Skin Research Society (Singapore), and helped establish a patient advocacy group, Debra Singapore, with whom she works for the patient community affected by epidermolysis bullosa. (skinsoc.org.sg)
  • A cutaneous horn is a hard, conical, and elongated protrusion composed of keratin, resembling an animal's horn, which forms over a skin lesion or irregularity, often indicating an underlying malignant or premalignant condition. (hbot-india.com)
  • This cytoskeletal disorganization also leads to a loss of anchorage to the hemidesmosomes and desmosomes, causing basal cells to lose their linkage with the basal lamina and each other. (wikipedia.org)
  • Proliferation of KRT14 -expressing basal cells leads to development of dermatoglyphics during the first trimester of gestation. (medscape.com)
  • Just like an anchor digs into the seafloor and holds a boat in place, hemidesmosomes dig into the basement membrane and hold basal cells in place. (osmosis.org)
  • Using micro-patterned surfaces to precisely manipulate cell shape, we find that cell adhesion and spreading regulate the size and shape of the nucleus. (lsbu.ac.uk)
  • Comparing differential gene expression can help to determine the effect of radiation and estrogens on cell adhesion. (bvsalud.org)
  • Studies on lung cancer have also shown that squamous cell carcinomas give rise to tumors with elevated K5 levels, and that they are more likely to arise from stem cells expressing K5 than from those cells without K5 expression. (wikipedia.org)
  • One of the most feared complications is the early development of aggressive cutaneous squamous cell carcinomas (SCC). (biomedcentral.com)
  • The majority of cutaneous squamous cell carcinomas (XC) are located in the head-neck-region and especially on the midface and ears. (coek.info)
  • A newly defined role for keratins is to bind and modulate the activity of a variety of regulators and signaling effectors, with a significant impact on homeostasis in complex epithelia. (coulombelab.com)
  • These heterodimers are formed between specific pairs of type I (acidic) and type II (basic) keratin. (wikipedia.org)
  • The acidic keratins are encoded on chromosome 17 (17q21.2). (wikipedia.org)
  • Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification. (vestnikdv.ru)
  • Recombinant overexpression of normal KLHL24 promoted keratin 14 degradation, whereas mutant KLHL24 showed less activity than the normal molecule. (uzh.ch)
  • Alpha-keratin (α-keratin) is a type of keratin found in vertebrates . (wikipedia.org)
  • Alpha-keratins (α-keratins) are found in all vertebrates. (wikipedia.org)
  • A biopsy should be performed for any lesion suspected of being a cutaneous neoplasm to rule out basal cell carcinoma and other dermal lesions. (medscape.com)
  • K5, a type II keratin, pairs with the type I keratin K14. (wikipedia.org)
  • Naegeli-Franceschetti-Jadassohn (NFJ) syndrome may be associated with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21. (medscape.com)
  • In contrast, a highly significant linkage was detected with a number of markers located in the vicinity of the type I keratin gene cluster on band 17q21, with maximum 2-lod scores of 4.16 and 3.717 for the markers D17S1787 and D17S1886, respectively. (medscape.com)
  • The EV composition depends on the producer cell type and its physiological conditions. (frontiersin.org)
  • The exosome vesicles are a type of extracellular vesicles (EV), which are defined as lipid-bilayer spheroid structures, without replicating capacity, that are released from cells, including both prokaryotes and eukaryotes. (frontiersin.org)
  • Keratinization or cornification was undergone in developing special cells from the undifferentiated precursor. (ijpsr.com)