Skin development

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  • 2  Koster MI. p63 in skin development and ectodermal dysplasias. J Invest Dermatol 2010;130:2352–8. Cross Ref link Pubmed link
  • 3  Driskell RR, Lichtenberger BM, Hoste E, et al. Distinct fibroblast lineages determine dermal architecture in skin development. Nature 2013;504:277–81. Cross Ref link Pubmed link
  • 4  Duverger O, Morasso MI. To grow or not to grow: hair morphogenesis and human genetic hair disorders. Semin Cell Dev Biol 2014;25//ϖ26C:22–33. Cross Ref link
  • 5  Sennett R, Rendl M. Mesenchymal–epithelial interactions during hair follicle morphogenesis and cycling. Semin Cell Dev Biol 2012;23:917–27. Cross Ref link Pubmed link
  • 6  Lim X, Nusse R. Wnt signaling in skin development, homeostasis and disease. Cold Spring Harb Perspect Biol 2013;5:piia008029.
  • 7  Owens P, Han G, Li AG, Wang XJ. The role of Smads in skin development. J Invest Dermatol 2008;128:783–90. Cross Ref link Pubmed link
  • 8  Botchkareva NV. MicroRNA/mRNA regulatory networks in the control of skin development and regeneration. Cell Cycle 2012;11:468–74. Cross Ref link Pubmed link
  • 9  Honeycutt KA, Roop DR. c‐Myc and epithelial stem cell fate determination. J Dermatol 2004;31:368–75. Cross Ref link Pubmed link
  • 10  Loomis CA. Development and morphogenesis of the skin. Adv Dermatol 2001;17:183–210. Pubmed link
  • 11  Bergmann C, Senderek J, Anhuf D, et al. Mutations in the gene encoding Wnt‐signaling component R‐spondin 4 (RSPO4) cause autosomal recessive anonychia. Am J Hum Genet 2006;79:1105–9. Cross Ref link Pubmed link
  • 12  Olivera‐Martinez I, Thelu J, Dhouailly D. Molecular mechanisms controlling dorsal dermis generation from the somite dermomyotome. Int J Dev Biol 2004;48:93–101. Cross Ref link Pubmed link

Epidermal and adnexal structures

  • 13  Houben E, De Paepe K, Rogiers V. A keratinocyte's course of life. Skin Pharmacol Physiol 2007;20:122–32. Cross Ref link Pubmed link
  • 14  Feingold KR, Elias PM. Role of lipids in the formation and maintenance of the cutaneous permeability barrier. Biochim Biophys Acta 2014;1841:280–94. Cross Ref link Pubmed link
  • 15  Brown SJ, McLean WH. One remarkable molecule: filaggrin. J Invest Dermatol 2012;132:751–62. Cross Ref link Pubmed link
  • 16  Eckhart L, Lippens S, Tschachler E, Declerq W. Cell death by cornification. Biochim Biophys Acta 2013;1833:3471–80. Cross Ref link Pubmed link

Keratinocytes

  • 17  Szeverenyi I, Cassidy AJ, Chung CW, et al. The human intermediate filament database: comprehensive information on a gene family involved in many human diseases. Hum Mutat 2008;29:351–60. Cross Ref link Pubmed link
  • 18  Pan X, Hobbs RP, Coulombe PA. The expanding significance of keratin intermediate filaments in normal and diseased epithelia. Curr Opin Cell Biol 2013;25:47–56. Cross Ref link Pubmed link
  • 19  Schweizer J, Bowden PE, Coulombe PA, et al. New consensus nomenclature for mammalian keratins. J Cell Biol 2006;174:169–74. Cross Ref link Pubmed link
  • 20  Magin TM, Vijayaraj P, Leube RE. Structural and regulatory functions of keratins. Exp Cell Res 2007;313:2031–2. Cross Ref link
  • 21  Uitto J, Richard G, McGrath JA. Diseases of epidermal keratins and their linker proteins. Exp Cell Res 2007;313:1995–2009. Cross Ref link Pubmed link
  • 22  McLean WH, Moore CB. Keratin disorders:from gene to therapy. Hum Mol Genet 2011;20:R189–97. Cross Ref link Pubmed link

Eccrine and apocrine glands

  • 23  Wollina U, Abdel‐Naser MB, Ganceviciene R, Zouboulis CC. Receptors of eccrine, apocrine, and holocrine skin glands. Dermatol Clin 2007;25:577–88. Cross Ref link Pubmed link
  • 24  Morimoto T, Itoh T. Thermoregulation and body fluid osmolality. J Basic Clin Physiol Pharmacol 1998;9:51–72. Cross Ref link Pubmed link
  • 25  Harker M. Psychological sweating: a systematic review focused on aetiology and cutaneous responses. Skin Pharmacol Physiol 2013;26:92–100. Cross Ref link Pubmed link
  • 26  Shibasaki M, Wilson TE, Crandall CG. Neural control and mechanisms of eccrine sweating during heat stress and exercise. J Appl Physiol 2006;100:1692–701. Cross Ref link Pubmed link
  • 27  Quinton PM. Cystic fibrosis: lessons from the sweat gland. Physiology (Bethesda) 2007;22:212–25. Cross Ref link Pubmed link
  • 28  Lonsdale‐Eccles A, Leonard N, Lawrence C. Axillary hyperhidrosis: eccrine or apocrine. Clin Exp Dermatol 2003;28:2–7. Cross Ref link Pubmed link

Pilosebaceous unit

  • 29  Schlake T. Determination of hair structure and shape. Semin Cell Dev Biol 2007;18:267–73. Cross Ref link Pubmed link
  • 30  Fuchs E. Scratching the surface of skin development. Nature 2007;445:834–42. Cross Ref link Pubmed link
  • 31  Schweizer J, Langbein L, Rogers MA, Winter H. Hair follicle‐specific keratins and their diseases. Exp Cell Res 2007;313:2010–20. Cross Ref link Pubmed link
  • 32  Harel S, Christiano AM. Genetics of structural hair disorders. J Invest Dermatol 2012;132:E22–6. Pubmed link
  • 33  Westgate GE, Botchkareva NV, Tobin DJ. The biology of hair diversity. Int J Cosmet Sci 2013;35:329–36. Cross Ref link Pubmed link

Nails

  • 34  De Berker D. Nail anatomy. Clin Dermatol 2013;31:509–15. Cross Ref link Pubmed link
  • 35  Blaydon DC, Ishii Y, O'Toole EA, et al. The gene encoding R‐spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, is mutated in inherited anonychia. Nat Genet 2006;38:1245–7. Cross Ref link Pubmed link
  • 36  De Berker DA, Andre J, Baran R. Nail biology and nail science. Int J Cosmet Sci 2007;29:241–75. Cross Ref link Pubmed link
  • 37  Achten G, Parent D. The normal and pathologic nail. Int J Dermatol 1983;22:556–65. Cross Ref link Pubmed link
  • 38  Cohen PR. The lunula. J Am Acad Dermatol 1996;34:943–53. Cross Ref link Pubmed link

Merkel cells

  • 39  Boulais N, Misery L. Merkel cells. J Am Acad Dermatol 2007;57:147–65. Cross Ref link Pubmed link
  • 40  Moll I, Roessler M, Brandner JM, et al. Human Merkel cells – aspects of cell biology, distribution and functions. Eur J Cell Biol 2005;84:259–71. Cross Ref link Pubmed link
  • 41  Maksimovic S, Nakatani M, Baba Y, et al. Epidermal Merkel cells are mechanosensory cells that tune mammalian touch receptors. Nature 2014;509:617–21. Cross Ref link Pubmed link
  • 42  Szrder V, Grim M, Halata Z, Sieber‐Blum M. Neural crest origin of mammalian Merkel cells. Dev Biol 2003;253:258–63. Cross Ref link Pubmed link
  • 43  Sidhu GS, Chandra P, Cassai ND. Merkel cells, normal and neoplastic. Ultrastruct Pathol 2005;29:287–94. Cross Ref link Pubmed link
  • 44  Schrama D, Ugurel S, Becker JC. Merkel cell carcinoma: recent insights and new treatment options. Curr Opin Oncol 2012;24:141–9. Cross Ref link Pubmed link

Innate immunity

  • 45  Nakatsuji T, Gallo RL. Antimicrobial peptides: old molecules with new ideas. J Invest Dermatol 2012;132:887–95. Cross Ref link Pubmed link
  • 46  Afshar M, Gallo RL. Innate immune defense system of the skin. Vet Dermatol 2013;24:32–8. Cross Ref link Pubmed link
  • 47  Chan JK, Roth j, Oppenheim JJ, et al. Alarmins: awaiting a clinical response. J Clin Invest 2012;122:2711–19. Cross Ref link Pubmed link
  • 48  Steinhoff M, Schauber J, Leyden JJ. New insights into rosacea pathophysiology: a review of recent findings. J Am Acad Dermatol 2013;69:515–26. Cross Ref link

Skin microbiome

  • 49  Grice EA, Kong HH, Renaud G, et al. A diversity profile of the human skin microbiota. Genome Res 2008;18:1043–50. Cross Ref link Pubmed link
  • 50  Fierer N, Hamady M, Lauber CL, Knight R. The influence of sex, handedness, and washing on the diversity of hand surface bacteria. Proc Natl Acad Sci USA 2008;105:17994–9. Cross Ref link Pubmed link
  • 51  Chen YE, Tsao H. The skin microbiome: current perspectives and future challenges. J Am Acad Dermatol 2013;69:143–55. Cross Ref link Pubmed link

Langerhans cells

  • 52  Mohr RE, Takashima A. Epidermal Langerhans' cell movement in situ: a model for understanding immunologic function in the skin. Arch Dermatol 2007;143:1438. Cross Ref link
  • 53  Tay SS, Roediger B, Tong PL, Tikoo S, Weninger W. The skin‐resident immune network. Curr Dermatol Rep 2013;3:13–22. Cross Ref link Pubmed link
  • 54  Bennett CL, Noordegraaf M, Martina CA, Clausen BE. Langerhans' cells are required for efficient presentation of topically applied hapten to cells. J Immunol 2007;179:6830–5. Cross Ref link Pubmed link
  • 55  Chopin M, Nutt SL. Establishing and maintaining the Langerhans cell network. Semin Cell Dev Biol 2014;in press. Pubmed link
  • 56  Igyarto BZ, Kaplan DH. Antigen presentation by Langerhans cells. Curr Opin Immunol 2013;25:115–19. Cross Ref link Pubmed link

Immune surveillance

  • 57  Pasparakis M, Haase I, Nestle FO. Mechanisms regulating skin immunity and inflammation. Nat Rev Immunol 2014;14:289–301. Cross Ref link Pubmed link
  • 58  Loser K, Beissert S. Dendritic cells and T cells in the regulation of cutaneous immunity. Adv Dermatol 2007;23:307–33. Cross Ref link Pubmed link
  • 59  Seneschal J, Clark RA, Gehad A, Baccher‐Allan CM, Kupper TS. Human epidermal Langerhans cells maintain immune homeostasis in skin by activating skin resident regulatory T cells. Immunity 2012;36:873–84. Cross Ref link Pubmed link
  • 60  Magyarics Z, Csillag A, Pazmandi K, et al. Identification of plasmacytoid pre‐dendritic cells by one‐color flow cytometry for phenotype screening. Cytometry A 2008;73:254–8. Cross Ref link Pubmed link
  • 61  Chu CC, Di Meglio P, Nestle FO. Harnessing dendritic cells in inflammatory skin diseases. Semin Immunol 2011;23:28–41. Cross Ref link Pubmed link

Mast cells

  • 62  Hide M, Yanase Y, Greaves MW. Cutaneous mast cell receptors. Dermatol Clin 2007;25:563–75. Cross Ref link Pubmed link
  • 63  Galli SJ, Tsai M. Mast cells: versatile regulators of inflammation, tissue remodeling, host defense and homeostasis. J Dermatol Sci 2008;49:7–19. Cross Ref link Pubmed link
  • 64  Hungness SI, Akin C. Mastocytosis:advances in diagnosis and treatment. Curr Allergy Asthma Rep 2007;7:248–54. Cross Ref link Pubmed link
  • 65  Tete S, Tripodi D, Rosati M, et al. Role of mast cells in innate and adaptive immunity. J Biol Reg Homeost Agents 2012;26:193–201.
  • 66  Harvima IT, Nilsson G. Mast cells as regulators of skin inflammation and immunity. Acta Derm Venereol 2011;91:644–50. Pubmed link

Melanocytes

  • 67  Wilson S, Ginger RS, Dadd T, et al. NCKX5, a natural regulator of human skin colour variation, regulates the expression of key pigment genes MC1R and alpha‐MSH and alters cholesterol homeostasis in normal human melanocytes. Adv Exp Med Biol 2013;961:95–107. Cross Ref link Pubmed link
  • 68  Lang D, Macarenhas JB, Shea CR. Melanocytes, melanocyte stem cells, and melanoma stem cells. Clin Dermatol 2013;31:166–78. Cross Ref link Pubmed link
  • 69  Murisier F, Beermann F. Genetics of pigment cells: lessons from the tyrosinase gene family. Histol Histopathol 2006;21:567–78. Pubmed link
  • 70  Nishimura EK. Melanocyte stem cells: a melanocyte reservoir in hair follicles for hair skin skin repigmentation. Pigment Cell Melanoma Res 2011;24:401–10. Cross Ref link Pubmed link
  • 71  Schouwey K, Beermann F. The Notch pathway: hair graying and pigment cell homeostasis. Histol Histopathol 2008;23:609–19. Pubmed link
  • 72  Sturm RA. Molecular genetics of human pigmentation diversity. Hum Mol Genet 2009;18:R9–17. Cross Ref link Pubmed link

Desmosomes

  • 73  Kowalczyk AP, Green KJ. Structure, function, and regulation of desmosomes. Prog Mol Biol Transl Sci 2013;116:95–118. Cross Ref link Pubmed link
  • 74  Al‐Jassar C, Bikker H, Overduin M, Chidget M. Mechanistic basis of desmosome‐targeted diseases. J Mol Biol 2013;425:4006–22. Cross Ref link Pubmed link
  • 75  Harmon RM, Green KJ. Structural and functional diversity of desmosomes. Cell Commun Adhes 2013;20:171–87. Cross Ref link Pubmed link
  • 76  Petrof G, Mellerio JE, McGrath JA. Desmosomal genodermatoses Br J Dermatol 2012;166:36–45. Cross Ref link Pubmed link
  • 77  Ishida‐Yamamoto A, Igawa S. Genetic skin diseases related to desmosomes and corneodesmosomes. J Dermatol Sci 2014;74:99–105. Cross Ref link Pubmed link
  • 78  Amagai M, Stanley J. Desmoglein as a target in skin disease and beyond. J Invest Dermatol 2012;132:776–84. Cross Ref link Pubmed link
  • 79  Chan LS. Epitope spreading in paraneoplastic pemphigus: autoimmune induction in antibody‐mediated blistering diseases. Arch Dermatol 2000;136:663–4. Pubmed link
  • 80  Stanley JR, Amagai M. Pemphigus, bullous impetigo and the staphylococcal scalded‐skin syndrome. N Eng J Med 2006;355:1800–10. Cross Ref link

Adherens junctions

  • 81  Niessen CM. Tight/adherens junctions: basic structure and function. J Invest Dermatol 2007;127:2525–32. Cross Ref link Pubmed link
  • 82  Irie K, Shimizu K, Sasikawa T, Ikeda W, Takai Y. Roles and modes of action of nectins in cell–cell adhesion. Semin Cell Dev Biol 2004;15:643–56. Cross Ref link Pubmed link
  • 83  Niessen CM, Gumbiner BM. Cadherin‐mediated cell sorting not determined by binding or adhesion specificity. J Cell Biol 2002;156:389–99. Cross Ref link Pubmed link
  • 84  Protonotarius NI, Tsatspoulou AA, Gatzoulis KA. Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). Card Electrophysiol Rev 2002;6:72–80. Cross Ref link Pubmed link
  • 85  Sprecher E, Bergman R, Richard G, et al. Hypotrichosis with juvenile macular dystrophy is caused by a mutation in CDH3, encoding P‐cadherin. Nat Genet 2001;29:134–6. Cross Ref link Pubmed link
  • 86  Kjaer KW, Hansen L, Schwabe GC, et al. Distinct CDH3 mutations cause ectodermal dysplasia, ectrodacytly, macular dystrophy (EEM) syndrome. J Med Genet 2005;42:292–8. Cross Ref link Pubmed link
  • 87  Brancati F, Agolini E, Fortugno P. Nectinopathies: an emerging group of ectodermal dysplasia syndromes. G Ital Dermatol Venereol 2013;148:59–64. Pubmed link

Gap junctions

  • 88  Mese G, Richard G, White TW. Gap junctions:basic structure and function. J Invest Dermatol 2007;127:2516–24. Cross Ref link Pubmed link
  • 89  Richard G. Connexin disorders of the skin. Clin Dermatol 2005;23:23–32. Cross Ref link Pubmed link
  • 90  Scott CA, Kelsell DP. Key functions for gap junctions in skin and hearing Biochem J 2011;438:245–54. Cross Ref link Pubmed link
  • 91  Velasquez S, Eugenin EA. Role of pannexin‐1 hemichannels and purinergic receptors in the pathogenesis of human diseases. Front Physiol 2014;5:96. Cross Ref link Pubmed link

Tight junctions

  • 92  Niessen CM. Tight/adherens junctions: basic structure and function. J Invest Dermatol 2007;127:2525–32. Cross Ref link Pubmed link
  • 93  Morita K, Miyachi Y. Tight junctions in the skin. J Dermatol Sci 2003;31:81–9. Cross Ref link Pubmed link
  • 94  Gupta IR, Ryan AK. Claudins: unlocking the code to tight junction formation during embryogenesis and in disease. Clin Genet 2010;77:314–25. Cross Ref link Pubmed link
  • 95  Konrad M, Schaller A, Seelow D, et al. Mutations in the tight junction gene claudin 19 (CLDN19) are associated with renal magnesium wasting, renal failure, and severe ocular involvement. Am J Hum Genet 2006;79:949–57. Cross Ref link Pubmed link
  • 96  Hadj‐Rabia S, Baala L, Vabres P, et al. Claudin‐1 mutations in neonatal sclerosing cholangitis associated with ichthyosis: a tight junction disease. Gastroenterology 2004;127:1386–90. Cross Ref link Pubmed link

Dermal–epidermal basement membrane

  • 97  Bruckner‐Tuderman L, Has C. Disorders of the cutaneous basement membrane zone – the paradigm of epidermolysis bullosa. Matrix Biol 2014;33:29–34. Cross Ref link Pubmed link
  • 98  Uitto J, Pulkkinen L. Molecular complexity of the cutaneous basement membrane zone. Mol Biol Rep 1996;23:35–46. Cross Ref link Pubmed link
  • 99  Tzu J, Marinkovich MP. Bridging structure with function: structural, regulatory, and developmental role of laminins. Int J Biochem Cell Biol 2008;40:199–214. Cross Ref link Pubmed link
  • 100  El Ghalbzouri A, Jonkman MF, Dijkman R, et al. Basement membrane reconstruction in human skin equivalents is regulated by fibroblasts and/or exogenously activated keratinocytes. J Invest Dermatol 2005;124:79–86. Cross Ref link Pubmed link
  • 101  Salam A, Proudfoot LE, McGrath JA. Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies. Ann Med 2014;46:49–61. Cross Ref link Pubmed link

Basement membrane collagen

  • 102  Khoshnoodi J, Pedchenko V, Hudson BG. Mammalian collagen IV. Microsc Res Tech 2008;71:357–70. Cross Ref link Pubmed link
  • 103  Hudson BG, Tryggvason K, Sundaramoorthy M, et al. Alport's syndrome, Goodpasture's syndrome, and type IV collagen. N Eng J Med 2003;25:2543–56. Cross Ref link
  • 104  Kruegel J, Rubel D, Gross O. Alport syndrome – insights from basic and clinical research. Nat Rev Nephrol 2013;9:170–8. Cross Ref link Pubmed link
  • 105  Ghohestani RF, Rotunda SL, Hudson B, et al. Crescentic glomerulonephritis and subepidermal blisters with autoantibodies to α5 and α6 chains of type IV collagen. Lab Invest 2003;83:605–11. Cross Ref link Pubmed link

Laminins

  • 106  Miner JH. Laminins and their roles in mammals. Microsc Res Tech 2008;71:349–56. Cross Ref link Pubmed link
  • 107  Tzu J, Marinkovich MP. Bridging structure with function: structural, regulatory, and developmental role of laminins. Int J Biochem Cell Biol 2008;40:199–214. Cross Ref link Pubmed link
  • 108  Sugawara K, Tsuruta D, Ishii M, et al. Laminin‐332 and ‐511 in skin. Exp Dermatol 2008;17:473–80. Cross Ref link Pubmed link
  • 109  Belkin AM, Stepp MA. Integrins as receptors for laminins. Microsc Res Tech 2000;51:280–301. Cross Ref link Pubmed link
  • 110  Rouselle P, Beck K. Laminin 332 processing impacts cellular behavior. Cell Adhes Migr 2013;7:122–34. Cross Ref link
  • 111  Chung HJ, Uitto J. Epidermolysis bullosa with pyloric atresia. Dermatol Clin 2010;28:43–54. Cross Ref link Pubmed link
  • 112  Breitkreutz D, Koxholt I, Thieman K, Nischt R. Skin basement membrane: the foundation of epidermal integrity – BM functions and diverse roles of bridging molecules nidogen and perlecan. Biomed Res Int 2013;2013:179784. Cross Ref link Pubmed link
  • 113  Aumailley M, Rouselle P. Laminins of the dermo‐epidermal junction. Matrix Biol 1999;18:19–28. Cross Ref link Pubmed link
  • 114  Niessen CM, Hogervorst F, Jaspars LH, et al. The α6β4 integrin is a receptor for both laminin and kalinin. Exp Cell Res 1994;211:360–7. Cross Ref link Pubmed link

Hemidesmosomes

  • 115  De Pereda JM, Ortega E, Alonso‐Garcia N, et al. Advances and perspectives of the architecture of hemidesmosomes: lessons from structural biology. Cell Adhes Migr 2009;3:361–4. Cross Ref link
  • 116  McGrath JA, Gatalica B, Christiano AM, et al. Mutations in the 180‐kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet 1995;11:83–6. Cross Ref link Pubmed link
  • 117  Groves RW, Liu L, Dopping‐Hepenstal PJ, et al. A homozygous nonsense mutation within the dystonin gene coding for the coiled‐coil domain of the epithelial isofroms of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 2010;130:1551–7. Cross Ref link Pubmed link
  • 118  Bruckner‐Tuderman L, McGrath JA, Robinson EC, Uitto J. Animal models of epidermolysis bullosa: update 2010. J Invest Dermatol 2010;130:1485–8. Cross Ref link Pubmed link
  • 119  Natsuga K, Shinkuma S, Nishie W, et al. Animal models of epidermolysis bullosa. Dermatol Clin 2010;28:137–42. Cross Ref link Pubmed link
  • 120  Laimer M, Lanscheutzer CM, Diem A, Bauer JW. Herlitz junctional epidermolysis bullosa. Dermatol Clin 2010;28:55–60. Cross Ref link Pubmed link
  • 121  Pulkkinen L, Uitto J. Hemidesmosomal variants of epidermolysis bullosa. Mutations in the α6β4 integrin and the 180‐kD bullous pemphigoid antigen/type XVII collagen genes. Exp Dermatol 1998;7:46–64. Cross Ref link Pubmed link

Anchoring fibrils

  • 122  Chung HJ, Uitto J. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin 2010;28:93–105. Cross Ref link Pubmed link
  • 123  Christiano AM, Hoffman GG, Chung‐Honet LC, et al. Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics 1994;21:169–79. Cross Ref link Pubmed link
  • 124  Villone D, Fritsch A, Koch M. Supramolecular interactions in the dermo‐epidermal junction zone: anchoring fibril‐collagen VII tightly binds to banded collagen fibrils. J Biol Chem 2008;238:24506–13. Cross Ref link
  • 125  Nystrom, Velati D, Mittapalli VR, et al. Collagen VII plays a dual role in wound healing. J Clin Invest 2013;123:3498–509. Cross Ref link Pubmed link
  • 126  Varki R, Sadowski S, Uitto J, et al. Epidermolysis bullosa. II. Type VII collagen mutations and phenotype–genotype correlations in the dystrophic subtypes. J Med Genet 2007;44:181–92. Cross Ref link Pubmed link

Extracellular matrix

  • 127  Myllyharju J, Kivirikko KI. Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 2004;20:33–43. Cross Ref link Pubmed link
  • 128  Shaw LM, Olsen BR. FACIT collagens: diverse molecular bridges in extracellular matrices. Trends Biochem Sci 1991;16:191. Cross Ref link Pubmed link
  • 129  Franzke CW, Bruckner P, Bruckner‐Tuderman L. Collagenous transmembrane proteins: recent insights into biology and pathology. J Biol Chem 2005;280:4005–8. Cross Ref link Pubmed link
  • 130  Kuivaniemi H, Tromp G, Prockop DJ, et al. Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 1997;9:300–15. Cross Ref link Pubmed link
  • 131  Chu M‐L, Prockop DJ. Collagen:gene structure. In: Royce PM, Steinmann B, eds. Connective Tissue and its Heritable Disorders: Molecular, Genetic and Medical Aspects, 2nd edn. New York: Wiley‐Liss, 2002:223–43. Cross Ref link

Collagens

  • 132  Myllyharju J, Kivirikko KI. Collagens, modifying enzymes and their mutations in humans, flies and worms. Trends Genet 2004;20:33–43. Cross Ref link Pubmed link
  • 133  Kuivaniemi H, Tromp G, Prockop DJ, et al. Mutations in fibrillar collagens (types I, II, III, and XI), fibril‐associated collagen (type IX), and network‐forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels. Hum Mutat 1997;9:300–15. Cross Ref link Pubmed link
  • 134  Symoens S, Syx D, Malfait F, et al. Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria. Hum Mut 2012;33:1485–93. Cross Ref link Pubmed link
  • 135  Khoshnoodi J, Pedchenko V, Hudson BG. Mammalian collagen IV. Microsc Res Tech 2008;71:357–70. Cross Ref link Pubmed link
  • 136  Fitzgerald J, Rich C, Zhou FH, et al. Three novel collagen VI chains, α4(VI), α5(VI) and α6(VI). J Biol Chem 2008;283:20170–80. Cross Ref link Pubmed link
  • 137  Bonnemann CG. The collagen VI‐related myopathies: muscle meets its matrix. Nat Rev Neurol 2011;7:379–90. Cross Ref link Pubmed link
  • 138  Chung HJ, Uitto J. Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa. Dermatol Clin 2010;28:93–105. Cross Ref link Pubmed link
  • 139  Remington J, Chen M, Burnett J, et al. Autoimmunity to type VII collagen: epidermolysis bullosa acquisita. Curr Dir Autoimmun 2008;10:195–205. Cross Ref link Pubmed link
  • 140  Gatalica B, Pulkkinen L, Li K, et al. Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 1997;60:352–65. Pubmed link
  • 141  Schmidt E, della Torre R, Borradori L. Clinical features and practical diagnosis of bullous pemphigoid. Dermatol Clin 2011;29:427–38. Cross Ref link Pubmed link
  • 142  Söderhäll C, Marenholz I, Kerscher T, et al. Variants in a novel epidermal collagen gene (COL29A1) are associated with atopic dermatitis. PLoS Biol 2007;5:e242. Cross Ref link Pubmed link
  • 143  Powell AM, Sakuma‐Oyama Y, Oyama M, et al. Collagen XVII/BP180: a collagenous transmembrane protein and component of the dermoepidermal anchoring complex. Clin Exp Derm 2005;30:682–7. Cross Ref link Pubmed link

Collagen biosynthesis

  • 144  Myllyharju J. Prolyl 4‐hydroxylases, key enzymes in the synthesis of collagens and regulation of the response to hypoxia, and their roles as treatment targets. Ann Med 2008;23:1–16.

Collagen biology

  • 145  Uitto J, Kouba DJ. Cytokine modulation of extracellular matrix gene expression: relevance to fibrotic skin diseases. J Dermatol Sci 2000;24:S60. Cross Ref link Pubmed link
  • 146  Griffiths CE, Russman AN, Majmudar G, et al. Restoration of collagen formation in photodamaged human skin by tretinoin (retinoic acid). N Engl J Med 1993;329:530–5. Cross Ref link Pubmed link
  • 147  Samarakoon R, Overstreet JM, Higgins PJ. TGF‐β signaling in tissue fibrosis: redox controls, target genes and therapeutic opportunities. Cell Signal 2013;25:264–8. Cross Ref link Pubmed link

Collagen cross‐linking

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Collagen degradation

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Elastic fibres

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Elastin

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Elastin‐associated microfibrils

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Proteoglycan/glycosaminoglycans

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Fibroblasts

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Blood vessels and lymphatics

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Subcutaneous fat

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Physiological functions of skin

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Skin homeostasis

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Skin ageing

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