Genomes and Genes
Gene Symbol: Lor
Alias: AI036317, S77319, loricrin
- Suga Y, Jarnik M, Attar P, Longley M, Bundman D, Steven A, et al. Transgenic mice expressing a mutant form of loricrin reveal the molecular basis of the skin diseases, Vohwinkel syndrome and progressive symmetric erythrokeratoderma. J Cell Biol. 2000;151:401-12 pubmedMutations in the cornified cell envelope protein loricrin have been reported recently in some patients with Vohwinkel syndrome (VS) and progressive symmetric erythrokeratoderma (PSEK)...
- Segre J, Bauer C, Fuchs E. Klf4 is a transcription factor required for establishing the barrier function of the skin. Nat Genet. 1999;22:356-60 pubmed..Our studies provide new insights into transcriptional governance of barrier function, and pave the way for unravelling the molecular events that orchestrate this essential process. ..
- Koch P, de Viragh P, Scharer E, Bundman D, Longley M, Bickenbach J, et al. Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol. 2000;151:389-400 pubmed..The major protein of the epidermal CE is loricrin, contributing approximately 70% by mass. We have generated mice that are deficient for this protein...
- Steinert P, Kartasova T, Marekov L. Biochemical evidence that small proline-rich proteins and trichohyalin function in epithelia by modulation of the biomechanical properties of their cornified cell envelopes. J Biol Chem. 1998;273:11758-69 pubmed..Although the sum of loricrin + SPRs was conserved, the amount of SPRs varied in relation to the presumed physical requirements of the tissues...
- Yoneda K, Hohl D, McBride O, Wang M, Cehrs K, Idler W, et al. The human loricrin gene. J Biol Chem. 1992;267:18060-6 pubmedb>Loricrin is the major protein component of the cornified cell envelope of terminally differentiated mammalian epidermal (stratum corneum) cells. Using a specific human cDNA clone, we have isolated and characterized the human loricrin gene...
- Ihrie R, Marques M, Nguyen B, Horner J, Papazoglu C, Bronson R, et al. Perp is a p63-regulated gene essential for epithelial integrity. Cell. 2005;120:843-56 pubmed..These findings demonstrate that Perp is a key effector in the p63 developmental program, playing an essential role in an adhesion subprogram central to epithelial integrity and homeostasis. ..
- Yang A, Schweitzer R, Sun D, Kaghad M, Walker N, Bronson R, et al. p63 is essential for regenerative proliferation in limb, craniofacial and epithelial development. Nature. 1999;398:714-8 pubmed..Taken together, our results indicate that p63 is critical for maintaining the progenitor-cell populations that are necessary to sustain epithelial development and morphogenesis...
- Mills A, Zheng B, Wang X, Vogel H, Roop D, Bradley A. p63 is a p53 homologue required for limb and epidermal morphogenesis. Nature. 1999;398:708-13 pubmed..Thus, in contrast to p53, p63 is essential for several aspects of ectodermal differentiation during embryogenesis...
- Bazzi H, Fantauzzo K, Richardson G, Jahoda C, Christiano A. Transcriptional profiling of developing mouse epidermis reveals novel patterns of coordinated gene expression. Dev Dyn. 2007;236:961-70 pubmed..the nasal epithelium and correlates with the initiation of other epidermal differentiation markers such as K1 and loricrin (Byrne et al.  Development 120:2369-2383), as well as the initiation of barrier formation...
- Matsuki M, Yamashita F, Ishida Yamamoto A, Yamada K, Kinoshita C, Fushiki S, et al. Defective stratum corneum and early neonatal death in mice lacking the gene for transglutaminase 1 (keratinocyte transglutaminase). Proc Natl Acad Sci U S A. 1998;95:1044-9 pubmed..Thus, these TGase 1 knockout mice may be a useful model for severe cases of LI. ..
- Ezhkova E, Pasolli H, Parker J, Stokes N, Su I, Hannon G, et al. Ezh2 orchestrates gene expression for the stepwise differentiation of tissue-specific stem cells. Cell. 2009;136:1122-35 pubmed publisher..They maintain their proliferative potential and globally repressing undesirable differentiation programs while selectively establishing a specific terminal differentiation program in a stepwise fashion. ..
- Song H, Poy G, Darwiche N, Lichti U, Kuroki T, Steinert P, et al. Mouse Sprr2 genes: a clustered family of genes showing differential expression in epithelial tissues. Genomics. 1999;55:28-42 pubmed..The correlation between the physical location of the genes in the Sprr2 locus and their expression patterns suggests multiple levels of controlled expression. ..
- DiSepio D, Jones A, Longley M, Bundman D, Rothnagel J, Roop D. The proximal promoter of the mouse loricrin gene contains a functional AP-1 element and directs keratinocyte-specific but not differentiation-specific expression. J Biol Chem. 1995;270:10792-9 pubmedb>Loricrin gene expression is limited to terminally differentiating keratinocytes of stratified squamous epithelia...
- LeBoeuf M, Terrell A, Trivedi S, Sinha S, Epstein J, Olson E, et al. Hdac1 and Hdac2 act redundantly to control p63 and p53 functions in epidermal progenitor cells. Dev Cell. 2010;19:807-18 pubmed publisher..Our data identify critical requirements for HDAC1/2 in epidermal development and indicate that HDAC1/2 directly mediate repressive functions of p63 and suppress p53 activity. ..
- Descargues P, Sil A, Sano Y, Korchynskyi O, Han G, Owens P, et al. IKKalpha is a critical coregulator of a Smad4-independent TGFbeta-Smad2/3 signaling pathway that controls keratinocyte differentiation. Proc Natl Acad Sci U S A. 2008;105:2487-92 pubmed publisher..We suggest that a TGFbeta-Smad2/3-IKKalpha axis is a critical Smad4-independent regulator of keratinocyte proliferation and differentiation. ..
- Kashiwagi M, Morgan B, Georgopoulos K. The chromatin remodeler Mi-2beta is required for establishment of the basal epidermis and normal differentiation of its progeny. Development. 2007;134:1571-82 pubmed..Mi-2beta is however essential for the reprogramming of basal cells to the follicular and, subsequently, hair matrix fates. ..
- List K, Szabo R, Wertz P, Segre J, Haudenschild C, Kim S, et al. Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1. J Cell Biol. 2003;163:901-10 pubmed..The data identify keratinocyte Matriptase/MT-SP1 as an essential component of the profilaggrin-processing pathway and a key regulator of terminal epidermal differentiation. ..
- Kojima T, Yoshikawa Y, Takada S, Sato M, Nakamura T, Takahashi N, et al. Genomic organization of the Shc-related phosphotyrosine adapters and characterization of the full-length Sck/ShcB: specific association of p68-Sck/ShcB with pp135. Biochem Biophys Res Commun. 2001;284:1039-47 pubmed..The Sck-pp135 interaction was reduced by Src kinase inhibitors. These results suggest that Sck, but not N-Shc nor Shc, transmit signals in conjunction with pp135 following Src activation and/or calcium entry in the cell. ..
- Wakamatsu K, Ogita H, Okabe N, Irie K, Tanaka Okamoto M, Ishizaki H, et al. Up-regulation of loricrin expression by cell adhesion molecule nectin-1 through Rap1-ERK signaling in keratinocytes. J Biol Chem. 2007;282:18173-81 pubmed..Newborn nectin-1-/- pups showed shiny and slightly reddish skin; the amount of loricrin, one of the differentiation markers and also a major component of cornified cell envelopes, was markedly reduced ..
- Cheng X, Mihindukulasuriya K, Den Z, Kowalczyk A, Calkins C, Ishiko A, et al. Assessment of splice variant-specific functions of desmocollin 1 in the skin. Mol Cell Biol. 2004;24:154-63 pubmed..However, a comparison of our mutants with dsc1-null mice suggests that the Dsc1 extracellular domain is necessary to maintain structural integrity of the skin. ..
- Kim B, Leung D, Boguniewicz M, Howell M. Loricrin and involucrin expression is down-regulated by Th2 cytokines through STAT-6. Clin Immunol. 2008;126:332-7 pubmed publisher..b>Loricrin (LOR) and involucrin (IVL) are proteins important for skin barrier formation and integrity...
- Jamora C, Lee P, Kocieniewski P, Azhar M, Hosokawa R, Chai Y, et al. A signaling pathway involving TGF-beta2 and snail in hair follicle morphogenesis. PLoS Biol. 2005;3:e11 pubmed..This novel signaling pathway further weaves together the web of different morphogens and downstream transcriptional events that guide hair bud formation within the developing skin. ..
- Adolphe C, Narang M, Ellis T, Wicking C, Kaur P, Wainwright B. An in vivo comparative study of sonic, desert and Indian hedgehog reveals that hedgehog pathway activity regulates epidermal stem cell homeostasis. Development. 2004;131:5009-19 pubmed
- Danussi C, Petrucco A, Wassermann B, Pivetta E, Modica T, Del Bel Belluz L, et al. EMILIN1-?4/?9 integrin interaction inhibits dermal fibroblast and keratinocyte proliferation. J Cell Biol. 2011;195:131-45 pubmed publisher..In addition, EMILIN1 is identified as a novel ligand for keratinocyte ?9?1 integrin, suggesting prospective roles for this receptor-ligand pair in skin homeostasis. ..
- Ganuza M, Saiz Ladera C, Canamero M, Gomez G, Schneider R, Blasco M, et al. Genetic inactivation of Cdk7 leads to cell cycle arrest and induces premature aging due to adult stem cell exhaustion. EMBO J. 2012;31:2498-510 pubmed publisher..This process, a physiological attempt to maintain tissue homeostasis, led to the attrition of adult stem cell pools and to the appearance of age-related phenotypes, including telomere shortening and early death. ..
- Zhang H, Pasolli H, Fuchs E. Yes-associated protein (YAP) transcriptional coactivator functions in balancing growth and differentiation in skin. Proc Natl Acad Sci U S A. 2011;108:2270-5 pubmed publisher..Finally, we identify Cyr61 as a target of YAP in MKs and demonstrate a requirement for TEA domain (TEAD) transcriptional factors to comediate YAP functions in MKs. ..
- Mulcahy M, Geoghegan J, Monk I, O Keeffe K, Walsh E, Foster T, et al. Nasal colonisation by Staphylococcus aureus depends upon clumping factor B binding to the squamous epithelial cell envelope protein loricrin. PLoS Pathog. 2012;8:e1003092 pubmed publisher..Here, we demonstrate that the squamous epithelial cell envelope protein loricrin represents the major target ligand for ClfB during S. aureus nasal colonisation...
- Richardson R, Hammond N, Coulombe P, Saloranta C, Nousiainen H, Salonen R, et al. Periderm prevents pathological epithelial adhesions during embryogenesis. J Clin Invest. 2014;124:3891-900 pubmed publisher..Furthermore, this study suggests that failure of periderm formation underlies a series of devastating birth defects, including popliteal pterygium syndrome, cocoon syndrome, and Bartsocas-Papas syndrome. ..
- Riemondy K, Wang X, Torchia E, Roop D, Yi R. MicroRNA-203 represses selection and expansion of oncogenic Hras transformed tumor initiating cells. elife. 2015;4: pubmed publisher..This study establishes a role for the loss of microRNA-203 in promoting selection and expansion of Hras mutated cells and identifies a mechanism through which microRNA-203 antagonizes Hras-mediated tumorigenesis. ..
- Foley J, Dann P, Hong J, Cosgrove J, Dreyer B, Rimm D, et al. Parathyroid hormone-related protein maintains mammary epithelial fate and triggers nipple skin differentiation during embryonic breast development. Development. 2001;128:513-25 pubmed..Finally, PTHrP signaling regulates the epidermal and mesenchymal expression of LEF1 and (&bgr;)-catenin, suggesting that these changes in cell fate involve an interaction between the PTHrP and Wnt signaling pathways. ..
- Drosten M, Lechuga C, Barbacid M. Ras signaling is essential for skin development. Oncogene. 2014;33:2857-65 pubmed publisher..These observations provide genetic evidence for an essential role of Ras proteins in the control of keratinocyte and epidermal proliferation. ..
- Keeney D, Skinner C, Travers J, Capdevila J, Nanney L, King L, et al. Differentiating keratinocytes express a novel cytochrome P450 enzyme, CYP2B19, having arachidonate monooxygenase activity. J Biol Chem. 1998;273:32071-9 pubmed..5) with the appearance of loricrin-expressing keratinocytes during the stratification stage of fetal epidermis...
- Cottle D, Ursino G, Ip S, Jones L, DiTommaso T, Hacking D, et al. Fetal inhibition of inflammation improves disease phenotypes in harlequin ichthyosis. Hum Mol Genet. 2015;24:436-49 pubmed publisher..These studies highlight inflammation as an unexpected contributor to HI disease development in utero, and suggest that inhibiting inflammation may reduce disease severity. ..
- Lee D, Zhao X, Yim Y, Eisenberg E, Greene L. Essential role of cyclin-G-associated kinase (Auxilin-2) in developing and mature mice. Mol Biol Cell. 2008;19:2766-76 pubmed publisher..We conclude that GAK deletion blocks development and causes lethality in adult animals by disrupting clathrin-mediated endocytosis. ..
- Mokkapati S, Baranowsky A, Mirancea N, Smyth N, Breitkreutz D, Nischt R. Basement membranes in skin are differently affected by lack of nidogen 1 and 2. J Invest Dermatol. 2008;128:2259-67 pubmed publisher..In summary, our results indicate that in skin the laminin composition of the various BMs determines whether nidogens are required for their assembly and stabilization. ..
- Djalilian A, McGaughey D, Patel S, Seo E, Yang C, Cheng J, et al. Connexin 26 regulates epidermal barrier and wound remodeling and promotes psoriasiform response. J Clin Invest. 2006;116:1243-53 pubmed..More generally, these studies suggest that the most effective treatments for inflammatory skin disorders might concomitantly suppress the immune response and enhance epidermal differentiation to restore the barrier. ..
- Seldin L, Muroyama A, Lechler T. NuMA-microtubule interactions are critical for spindle orientation and the morphogenesis of diverse epidermal structures. elife. 2016;5: pubmed publisher..Our results reveal an additional and direct function of NuMA during mitotic spindle positioning, as well as a reiterative use of spindle orientation in the skin to build diverse structures. ..
- Bierkamp C, Schwarz H, Huber O, Kemler R. Desmosomal localization of beta-catenin in the skin of plakoglobin null-mutant mice. Development. 1999;126:371-81 pubmed..Our analysis underlines the central role of plakoglobin for desmosomal assembly and function during embryogenesis. ..
- Okano J, Lichti U, Mamiya S, Aronova M, Zhang G, Yuspa S, et al. Increased retinoic acid levels through ablation of Cyp26b1 determine the processes of embryonic skin barrier formation and peridermal development. J Cell Sci. 2012;125:1827-36 pubmed publisher..These results are important in understanding pathologies associated with abnormal embryonic skin development and barrier dysfunction. ..
- Mill P, Mo R, Hu M, Dagnino L, Rosenblum N, Hui C. Shh controls epithelial proliferation via independent pathways that converge on N-Myc. Dev Cell. 2005;9:293-303 pubmed..These findings demonstrate that Shh signaling controls the rapid and patterned expansion of epithelial progenitors through convergent Gli-mediated regulation. ..
- De Moerlooze L, Spencer Dene B, Revest J, Hajihosseini M, Rosewell I, Dickson C. An important role for the IIIb isoform of fibroblast growth factor receptor 2 (FGFR2) in mesenchymal-epithelial signalling during mouse organogenesis. Development. 2000;127:483-92 pubmed..Our findings point to a key role for fibroblast growth factor receptor 2(IIIb) in mesenchymal-epithelial signalling during early organogenesis. ..
- Van Keymeulen A, Mascre G, Youseff K, Harel I, Michaux C, De Geest N, et al. Epidermal progenitors give rise to Merkel cells during embryonic development and adult homeostasis. J Cell Biol. 2009;187:91-100 pubmed publisher..Our study demonstrates that MCs arise from the epidermis by an Atoh1-dependent mechanism and opens new avenues for study of MC functions in sensory perception, neuroendocrine signaling, and MC carcinoma. ..
- Günschmann C, Stachelscheid H, Akyuz M, Schmitz A, Missero C, Bruning J, et al. Insulin/IGF-1 controls epidermal morphogenesis via regulation of FoxO-mediated p63 inhibition. Dev Cell. 2013;26:176-87 pubmed publisher..Collectively, the present study reveals a critical role for IIS-dependent control of p63 activity in coordination of ACD and stratification during epithelial morphogenesis. ..
- Thomason H, Zhou H, Kouwenhoven E, Dotto G, Restivo G, Nguyen B, et al. Cooperation between the transcription factors p63 and IRF6 is essential to prevent cleft palate in mice. J Clin Invest. 2010;120:1561-9 pubmed publisher..Our findings therefore identify p63 as a key regulatory molecule during palate development and provide a mechanism for the cooperative role of p63 and IRF6 in orofacial development in mice and humans. ..
- Grisanti L, Revenkova E, Gordon R, Iomini C. Primary cilia maintain corneal epithelial homeostasis by regulation of the Notch signaling pathway. Development. 2016;143:2160-71 pubmed publisher..Thus, we have uncovered a function of the primary cilium in maintaining homeostasis of the CE by balancing proliferation and vertical migration of basal CECs through modulation of Notch signaling. ..
- Petiot A, Conti F, Grose R, Revest J, Hodivala Dilke K, Dickson C. A crucial role for Fgfr2-IIIb signalling in epidermal development and hair follicle patterning. Development. 2003;130:5493-501 pubmed..In addition, Fgf signals are required for the growth and patterning of pelage hairs. ..
- Kuraguchi M, Wang X, Bronson R, Rothenberg R, Ohene Baah N, Lund J, et al. Adenomatous polyposis coli (APC) is required for normal development of skin and thymus. PLoS Genet. 2006;2:e146 pubmed
- Funato N, Nakamura M, Richardson J, Srivastava D, Yanagisawa H. Tbx1 regulates oral epithelial adhesion and palatal development. Hum Mol Genet. 2012;21:2524-37 pubmed publisher..Our present study reveals new pathogenesis of incomplete and submucous cleft palate during mammalian palatogenesis. ..
- Schmidt Ullrich R, Tobin D, Lenhard D, Schneider P, Paus R, Scheidereit C. NF-kappaB transmits Eda A1/EdaR signalling to activate Shh and cyclin D1 expression, and controls post-initiation hair placode down growth. Development. 2006;133:1045-57 pubmed..The strongly decreased number of hair follicles observed in c(IkappaBalphaDeltaN) mice compared with tabby mice, indicates that additional signals, such as TROY, must regulate NF-kappaB activity in specific hair follicle subtypes. ..
- Lopez R, Garcia Silva S, Moore S, Bereshchenko O, Martinez Cruz A, Ermakova O, et al. C/EBPalpha and beta couple interfollicular keratinocyte proliferation arrest to commitment and terminal differentiation. Nat Cell Biol. 2009;11:1181-90 pubmed publisher..C/EBPs, therefore, couple basal keratinocyte cell cycle exit to commitment to differentiation through E2F repression and DNA binding, respectively, and may act to restrict the epidermal stem cell compartment. ..
- Koo B, Yoon M, Yoon K, Im S, Kim Y, Kim C, et al. An obligatory role of mind bomb-1 in notch signaling of mammalian development. PLoS ONE. 2007;2:e1221 pubmed..Our data provide the first evidence that Mib1 is essential for Jagged as well as Deltalike ligand-mediated Notch signaling in mammalian development, while Neur1, Neur2, and Mib2 are dispensable. ..
- Suzuki K, Yamanishi K, Mori O, Kamikawa M, Andersen B, Kato S, et al. Defective terminal differentiation and hypoplasia of the epidermis in mice lacking the Fgf10 gene. FEBS Lett. 2000;481:53-6 pubmed..The expression of loricrin, a marker of epidermal differentiation, was dramatically reduced...
- Smyth I, Hacking D, Hilton A, Mukhamedova N, Meikle P, Ellis S, et al. A mouse model of harlequin ichthyosis delineates a key role for Abca12 in lipid homeostasis. PLoS Genet. 2008;4:e1000192 pubmed publisher..Furthermore, we identify Abca12 as a mediator of Abca1-regulated cellular cholesterol efflux, a finding that may have significant implications for other diseases of lipid metabolism and homeostasis, including atherosclerosis...
- Chen J, Laclef C, Moncayo A, Snedecor E, Yang N, Li L, et al. The ciliopathy gene Rpgrip1l is essential for hair follicle development. J Invest Dermatol. 2015;135:701-709 pubmed publisher..This study indicates that RPGRIP1L, a ciliopathy gene, is essential for hair follicle morphogenesis likely through regulating primary cilia formation and the hedgehog signaling pathway. ..
- Rhiemeier V, Breitenbach U, Richter K, Gebhardt C, Vogt I, Hartenstein B, et al. A novel aspartic proteinase-like gene expressed in stratified epithelia and squamous cell carcinoma of the skin. Am J Pathol. 2006;168:1354-64 pubmed..Similar expression was observed in squamous skin tumors of patients, suggesting that detection of Taps levels represents a novel strategy to discriminate the progression state of squamous skin cancers. ..
- Ishitsuka Y, Huebner A, Rice R, Koch P, Speransky V, Steven A, et al. Lce1 Family Members Are Nrf2-Target Genes that Are Induced to Compensate for the Loss of Loricrin. J Invest Dermatol. 2016;136:1656-1663 pubmed publisherb>Loricrin is a major component of the cornified cell envelope, a highly insoluble structure composed of covalently cross-linked proteins...
- Ohuchi H, Hori Y, Yamasaki M, Harada H, Sekine K, Kato S, et al. FGF10 acts as a major ligand for FGF receptor 2 IIIb in mouse multi-organ development. Biochem Biophys Res Commun. 2000;277:643-9 pubmed..These results suggest that FGF10 acts as a major ligand for FGFR2b in mouse multi-organ development. ..
- Talbot D, Loring J, Schorle H, Lorgin J. Spatiotemporal expression pattern of keratins in skin of AP-2alpha-deficient mice. J Invest Dermatol. 1999;113:816-20 pubmed..Furthermore, the mutants lack a ring of ectodermal cells highly positive for keratin 15 in the area where lens induction occurs, indicating a defect in the inductive interactions underlying eye formation. ..
- Wang D, Zhang Z, O Loughlin E, Wang L, Fan X, Lai E, et al. MicroRNA-205 controls neonatal expansion of skin stem cells by modulating the PI(3)K pathway. Nat Cell Biol. 2013;15:1153-63 pubmed publisher..Our findings reveal an essential role for miR-205 in maintaining the expansion of skin SCs by antagonizing negative regulators of PI(3)K signalling. ..
- Yoneda K, Nakagawa T, Lawrence O, Huard J, Demitsu T, Kubota Y, et al. Interaction of the profilaggrin N-terminal domain with loricrin in human cultured keratinocytes and epidermis. J Invest Dermatol. 2012;132:1206-14 pubmed publisherThe relationship between the two coexpressed differentiation markers, profilaggrin and loricrin, is not clear right now...
- Mill P, Lee A, Fukata Y, Tsutsumi R, Fukata M, Keighren M, et al. Palmitoylation regulates epidermal homeostasis and hair follicle differentiation. PLoS Genet. 2009;5:e1000748 pubmed publisher..This study is the first to demonstrate a key role for palmitoylation in regulating developmental signals in mammalian tissue homeostasis. ..
- Pichery M, Huchenq A, Sandhoff R, Severino Freire M, Zaafouri S, Opálka L, et al. PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-O-acylceramide synthesis and skin permeability barrier. Hum Mol Genet. 2017;26:1787-1800 pubmed publisher..Overall, our data support that PNPLA1/Pnpla1 is a key player in the formation of ?-O-acylceramide, a crucial process for the epidermal permeability barrier function. ..
- Dai X, Schonbaum C, Degenstein L, Bai W, Mahowald A, Fuchs E. The ovo gene required for cuticle formation and oogenesis in flies is involved in hair formation and spermatogenesis in mice. Genes Dev. 1998;12:3452-63 pubmed..Furthermore, they uncover a phenotype similar to that of Bardet-Biedl syndrome, a human disorder that maps to the same locus as human ovo1. ..
- Yu Z, Lin K, Bhandari A, Spencer J, Xu X, Wang N, et al. The Grainyhead-like epithelial transactivator Get-1/Grhl3 regulates epidermal terminal differentiation and interacts functionally with LMO4. Dev Biol. 2006;299:122-36 pubmed..These findings indicate that the Get-1 and LMO4 genes interact functionally to regulate epidermal terminal differentiation. ..
- Xu X, Kawachi Y, Nakamura Y, Sakurai H, Hirota A, Banno T, et al. Yin-yang 1 negatively regulates the differentiation-specific transcription of mouse loricrin gene in undifferentiated keratinocytes. J Invest Dermatol. 2004;123:1120-6 pubmedb>Loricrin is a major component of the epidermal cornified cell envelope, and is expressed only in terminally differentiated keratinocytes...
- Schacht V, Ramirez M, Hong Y, Hirakawa S, Feng D, Harvey N, et al. T1alpha/podoplanin deficiency disrupts normal lymphatic vasculature formation and causes lymphedema. EMBO J. 2003;22:3546-56 pubmed..These data identify T1alpha/podoplanin as a novel critical player that regulates different key aspects of lymphatic vasculature formation. ..
- Martinez P, Ferrara Romeo I, Flores J, Blasco M. Essential role for the TRF2 telomere protein in adult skin homeostasis. Aging Cell. 2014;13:656-68 pubmed publisher..These results are in contrast with conditional deletion of TRF1 and TPP1 in the skin, where p53 deficiency rescued the associated skin phenotypes, highlighting the comparatively more essential role of TRF2 in skin homeostasis. ..
- Kawachi Y, Ishitsuka Y, Maruyama H, Fujisawa Y, Furuta J, Nakamura Y, et al. The POU domain transcription factors Oct-6 and Oct-11 negatively regulate loricrin gene expression in keratinocytes: association with AP-1 and Sp1/Sp3. Arch Dermatol Res. 2013;305:371-8 pubmed publisherb>Loricrin is a major component of the epidermal cornified cell envelope, and is expressed only in terminally differentiated keratinocytes...
- Boase N, Rychkov G, Townley S, Dinudom A, Candi E, Voss A, et al. Respiratory distress and perinatal lethality in Nedd4-2-deficient mice. Nat Commun. 2011;2:287 pubmed publisher..Thus, we provide critical in vivo evidence that Nedd4-2 is essential for correct regulation of ENaC expression, fetal and postnatal lung function and animal survival. ..
- Weber S, Niessen M, Prox J, Lüllmann Rauch R, Schmitz A, Schwanbeck R, et al. The disintegrin/metalloproteinase Adam10 is essential for epidermal integrity and Notch-mediated signaling. Development. 2011;138:495-505 pubmed publisher..The data identify Adam10 as the major Site-2 processing enzyme for Notch in the epidermis in vivo, and thus as a central regulator of skin development and maintenance. ..
- Ingraham C, Kinoshita A, Kondo S, Yang B, Sajan S, Trout K, et al. Abnormal skin, limb and craniofacial morphogenesis in mice deficient for interferon regulatory factor 6 (Irf6). Nat Genet. 2006;38:1335-40 pubmed..Histological and gene expression analyses indicate that the primary defect is in keratinocyte differentiation and proliferation. This study describes a new role for an IRF family member in epidermal development. ..
- Ruiz S, Segrelles C, Bravo A, Santos M, Perez P, Leis H, et al. Abnormal epidermal differentiation and impaired epithelial-mesenchymal tissue interactions in mice lacking the retinoblastoma relatives p107 and p130. Development. 2003;130:2341-53 pubmed..These results indicate an essential role for p107 and p130 in the epithelial-mesenchimal interactions. ..
- Matsui T, Kinoshita Ida Y, Hayashi Kisumi F, Hata M, Matsubara K, Chiba M, et al. Mouse homologue of skin-specific retroviral-like aspartic protease involved in wrinkle formation. J Biol Chem. 2006;281:27512-25 pubmed..This study provides the first evidence that retroviral-like aspartic protease is functionally important in mammalian tissue organization. ..
- Cangkrama M, Darido C, Georgy S, Partridge D, Auden A, Srivastava S, et al. Two Ancient Gene Families Are Critical for Maintenance of the Mammalian Skin Barrier in Postnatal Life. J Invest Dermatol. 2016;136:1438-1448 pubmed publisher..These findings define the molecular safeguards for barrier function that accompany the transition from intrauterine to terrestrial life. ..
- Schmuth M, Schoonjans K, Yu Q, Fluhr J, Crumrine D, Hachem J, et al. Role of peroxisome proliferator-activated receptor alpha in epidermal development in utero. J Invest Dermatol. 2002;119:1298-303 pubmed..activity at the stratum granulosum-stratum corneum junction and a modest decrease in both involucrin and loricrin protein expression, markers of keratinocyte differentiation...