GJB4

Summary

Gene Symbol: GJB4
Description: gap junction protein, beta 4, 30.3kDa
Alias: CX30.3, EKV, connexin 30.3, connexin-30.3, gap junction beta-4 protein
Species: human

Top Publications

  1. ncbi Immunohistochemical demonstration of connexin-related epithelization defects in a lamb caused by (erythro)keratodermia variabilis
    W Meyer
    Anatomical Institute, School of Veterinary Medicine Hannover, Germany
    J Vet Med A Physiol Pathol Clin Med 52:153-6. 2005
  2. ncbi Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome
    R M Pujol
    Pathology, Hospital del Mar, IMAS, Passeig Maritim 25 29, 08003 Barcelona, Spain
    Br J Dermatol 153:838-41. 2005
  3. doi Hafnium transistor design for neural interfacing
    David W Parent
    SJSU, USA
    Conf Proc IEEE Eng Med Biol Soc 2008:3356-9. 2008
  4. ncbi Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis
    C A Scott
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Clin Exp Dermatol 36:88-90. 2011
  5. ncbi Acitretin for erythrokeratodermia variabilis in a 9-year-old girl
    Robin A C Graham-Brown
    Department of Dermatology, Leicester Royal Infirmary, Leicester, United Kingdom
    Pediatr Dermatol 19:510-2. 2002
  6. ncbi Cellular mechanisms of mutant connexins in skin disease and hearing loss
    John E A Common
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, United Kingdom
    Cell Commun Adhes 10:347-51. 2003
  7. ncbi Does recessive EKV exist?
    Maurice A M van Steensel
    J Invest Dermatol 124:268-9; author reply 270-1. 2005
  8. doi A low power MICS band phase-locked loop for high resolution retinal prosthesis
    Jiawei Yang
    National ICT Australia and the Department of Electrical and Electronic Engineering, The University of Melbourne, Victoria 3010, Australia
    IEEE Trans Biomed Circuits Syst 7:513-25. 2013
  9. ncbi Connexin 30.3 (GJB4) is not required for normal skin function in humans
    M van Geel
    Br J Dermatol 147:1275-7. 2002
  10. ncbi Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
    Amy Y Jan
    Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA
    J Invest Dermatol 122:1108-13. 2004

Scientific Experts

Detail Information

Publications75

  1. ncbi Immunohistochemical demonstration of connexin-related epithelization defects in a lamb caused by (erythro)keratodermia variabilis
    W Meyer
    Anatomical Institute, School of Veterinary Medicine Hannover, Germany
    J Vet Med A Physiol Pathol Clin Med 52:153-6. 2005
    ..of four important connexins (Cx 26, 30, 31, 43) in the skin of a neonatal lamb with (erythro)keratodermia (EKV) was demonstrated using immunohistochemistry, including a very sensitive visualization system...
  2. ncbi Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndrome
    R M Pujol
    Pathology, Hospital del Mar, IMAS, Passeig Maritim 25 29, 08003 Barcelona, Spain
    Br J Dermatol 153:838-41. 2005
    ..skin, showing erythematous borders with sharp margins, clinically suggestive of erythrokeratoderma variabilis (EKV). A peripheral blood smear revealed cytoplasmic vacuoles in most granulocytes...
  3. doi Hafnium transistor design for neural interfacing
    David W Parent
    SJSU, USA
    Conf Proc IEEE Eng Med Biol Soc 2008:3356-9. 2008
    A design methodology is presented that uses the EKV model and the g(m)/I(D) biasing technique to design hafnium oxide field effect transistors that are suitable for neural recording circuitry...
  4. ncbi Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilis
    C A Scott
    Centre for Cutaneous Research, Blizard Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Clin Exp Dermatol 36:88-90. 2011
    ..Mutations in the genes GJB3 and GJB4, which encode connexin (Cx)31 and Cx30.3, are associated with EKV...
  5. ncbi Acitretin for erythrokeratodermia variabilis in a 9-year-old girl
    Robin A C Graham-Brown
    Department of Dermatology, Leicester Royal Infirmary, Leicester, United Kingdom
    Pediatr Dermatol 19:510-2. 2002
    Erythrokeratodermia variabilis (EKV) is a rare genodermatosis with a unique phenotype. Treatment with oral synthetic retinoids is well documented in adults, but not in children...
  6. ncbi Cellular mechanisms of mutant connexins in skin disease and hearing loss
    John E A Common
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, United Kingdom
    Cell Commun Adhes 10:347-51. 2003
    ..FACS analysis of WT and mutant EGFP-Cx31 transfected keratinocytes revealed a high percentage of cell death associated with the skin disease-associated mutant Cx31 proteins...
  7. ncbi Does recessive EKV exist?
    Maurice A M van Steensel
    J Invest Dermatol 124:268-9; author reply 270-1. 2005
  8. doi A low power MICS band phase-locked loop for high resolution retinal prosthesis
    Jiawei Yang
    National ICT Australia and the Department of Electrical and Electronic Engineering, The University of Melbourne, Victoria 3010, Australia
    IEEE Trans Biomed Circuits Syst 7:513-25. 2013
    ..A design methodology is presented in detail with the demonstration of EKV model parameters extraction...
  9. ncbi Connexin 30.3 (GJB4) is not required for normal skin function in humans
    M van Geel
    Br J Dermatol 147:1275-7. 2002
  10. ncbi Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia
    Amy Y Jan
    Division of Dermatology, Department of Medicine, University of Washington, Seattle, WA, USA
    J Invest Dermatol 122:1108-13. 2004
    ..3, and Cx31, may be required...
  11. ncbi Characterization of connexin 30.3 and 43 in thymocytes
    Paula Candida Fonseca
    Laboratório de Pesquisas sobre o Timo, Departamento de Imunologia, Instituto Oswaldo Cruz, Fundacao Oswaldo Cruz, Brasil, Av Brasil, 4365 Manguinhos, 21045 900, Rio de Janeiro, RJ, Brazil
    Immunol Lett 94:65-75. 2004
    ..Concluding, in this study, we described for the first time the expression of connexins in thymocytes, which may constitute a new molecule having a functional role in thymocytes maturation...
  12. ncbi Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiation
    Amy C Maher
    Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario, Canada
    Cell Commun Adhes 12:219-30. 2005
    ....
  13. ncbi A case of erythrokeratoderma variabilis: loosened gap junctions in the acanthotic epidermis
    Yukiko Tamaki
    Department of Dermatology, Osaka Red Cross Hospital, Osaka, Japan
    J Dermatol 33:419-23. 2006
    ..The disturbed cell-to-cell interaction through latent damage to the gap junctions may be related to the keratotic changes of the epidermis in these skin diseases...
  14. doi Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3
    Daniz Kooshavar
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran
    Int J Pediatr Otorhinolaryngol 77:189-93. 2013
    ..Between 10 and 42 percent of patients with recessive GJB2 mutations carry only one mutant allele. Mutations in GJB4, GJA1, and GJC3 encoding Cx30.3, Cx43, and Cx29, respectively, can lead to HL...
  15. pmc Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell death
    Jingwei Chi
    The State Key Laboratory of Medical Genetics, Xiangya Medical School, Central South University, Changsha, Hunan, China
    PLoS ONE 7:e32531. 2012
    ..Mutations in Connexin-31 (Cx31) are associated with multiple human diseases including erythrokeratodermia variabilis (EKV). The molecular action of Cx31 pathogenic mutants remains largely elusive...
  16. doi [Erythrokeratodermia variabilis]
    P Bilan
    Service de Dermatologie, Centre Hospitalier Victor Dupouy, 69, rue du Lieutenant Colonel Prudhon, 95100 Argenteuil, France
    Ann Dermatol Venereol 140:129-33. 2013
    Erythrokeratodermia variabilis (EKV) is a rare genodermatosis associated with keratinisation disorders. Mutations are found in genes encoding connexin 31 and 30.3 mapped to chromosome 1 p34-35...
  17. doi Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3
    Haris Kokotas
    Department of Genetics, Aghia Sophia Children s Hospital, Athens, Greece
    Eur J Dermatol 22:182-6. 2012
    ..Mutations associated with EKV have been identified in the connexin (Cx) genes GJB3 (Cx31) and GJB4 (Cx30.3), however, several cases of EKV have been tested negative for mutations in these two Cx genes...
  18. ncbi Erythrokeratoderma variabilis without GJB3 or GJB4 mutation: a review of Japanese patients
    M Nakamura
    Br J Dermatol 157:410-1. 2007
  19. ncbi The connexin31 F137L mutant mouse as a model for the human skin disease erythrokeratodermia variabilis (EKV)
    Marc Schnichels
    Institut fur Genetik, Abteilung Molekulargenetik, Universitat Bonn, Bonn 53117, Germany
    Hum Mol Genet 16:1216-24. 2007
    Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant human genodermatosis. Its clinical appearance varies from transient, fast moving erythemas to persistent brown hyperkeratoses...
  20. doi The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of Gottron
    M A M van Steensel
    Department of Dermatology, Maastricht University Medical Center, Maastricht, The Netherlands
    Am J Med Genet A 149:657-61. 2009
    ..All patients had the same mutation in the GJB4 gene causing the amino acid substitution p.Gly12Asp (G12D)...
  21. doi Connexin mutations in Brazilian patients with skin disorders with or without hearing loss
    Fabiana Alexandrino
    Centro de Biologia Molecular e Engenharia Genética CBMEG, Laboratorio de Genetica Molecular Humana, UNICAMP, Campinas, SP, Brazil
    Am J Med Genet A 149:681-4. 2009
    ..that distinct germline mutations within six connexin (Cx) genes GJB2 (Cx26), GJB6 (Cx30), GJB3 (Cx31), GJA1 (Cx43), GJB4 (Cx30.3), and GJB5 (Cx31.1), may cause sensorineural hearing loss and various skin disease phenotypes...
  22. doi Expression pattern of connexins in the corneal and limbal epithelium of a primate
    Xiaoyong Yuan
    Department of Ophthalmology, Cullen Eye Institute, Baylor College of Medicine, Houston, TX 77030, USA
    Cornea 28:194-9. 2009
    ..To detect the expression pattern of connexins in epithelial cells of the central cornea and limbus of the macaque...
  23. doi Connexin 30.3 is expressed in the kidney but not regulated by dietary salt or high blood pressure
    Fiona Hanner
    Department of Physiology and Biophysics, Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California 90033, USA
    Cell Commun Adhes 15:219-30. 2008
    ..Cx30.3 appears to be constitutively expressed in certain renal tubular segments and cells and its role in overall kidney function remains to be investigated...
  24. ncbi Erythrokeratoderma variabilis
    Christopher M Hunzeker
    Department of Dermatology, New York University, USA
    Dermatol Online J 14:13. 2008
    ..histopathologic findings, and family history were consistent with a diagnosis of erythrokeratoderma variabilis (EKV), a rare genodermatosis caused by various mutations in connexin genes...
  25. doi Connexin expression and gap junctional coupling in human cumulus cells: contribution to embryo quality
    H X Wang
    Department of Physiology, Schulich School of Medicine and Dentistry, The University of Western Ontario, London, ON, Canada
    J Cell Mol Med 13:972-84. 2009
    ..Thus, despite the presence of multiple connexins, Cx43 is a major contributor to gap junctions in human cumulus cells and its expression level may influence pregnancy outcome after ICSI...
  26. ncbi Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythema
    Ligia Stănescu
    Department of Pediatry, Filantropia University Hospital of Craiova, University of Medicine and Pharmacy of Craiova, Romania
    Rom J Morphol Embryol 48:443-7. 2007
    ..They were classified in erythrokeratodermia variabilis (EKV) and erythrokeratodermia symmetric progressive (EKSP)...
  27. ncbi Changes of gap and tight junctions during differentiation of human nasal epithelial cells using primary human nasal epithelial cells and primary human nasal fibroblast cells in a noncontact coculture system
    Jun ichi Koizumi
    Department of Otolaryngology, Sapporo Medical University School of Medicine, S1 W17, Sapporo, Japan
    J Membr Biol 218:1-7. 2007
    ....
  28. doi Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutations
    A Akman
    Department of Dermatology and Venerology, Akdeniz University School of Medicine, Antalya, Turkey
    Clin Exp Dermatol 33:582-4. 2008
    ..Molecular studies of the loricrin (LOR), connexin 31 (GJB3) and connexin 30.3 (GJB4) genes did not identify a disease-causing mutation...
  29. doi Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlation
    Jiann jou Yang
    Department of Biomedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
    Hum Genet 128:303-13. 2010
    ..audiometric configuration was significantly higher for children with GJB2 and GJB3 variants than for those with GJB4 and GJC3 variants (Adjusted OR = 4.89, p < 0.001)...
  30. ncbi Expression of connexins and the effect of retinoic acid in oral keratinocytes
    Setsuko Hatakeyama
    Department of Pathogenesis and Control of Oral Diseases, Division of Oral Pathology, School of Dentistry, Iwate Medical University, Iwate, Japan
    J Oral Sci 53:327-32. 2011
    ..1 as compared with control. These results indicate that GE1 cells are useful in analyzing the expression of connexin molecules in oral keratinocytes from oral mucosal lesions...
  31. doi Key functions for gap junctions in skin and hearing
    Claire A Scott
    Centre for Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, UK
    Biochem J 438:245-54. 2011
    ..3 and Cx31 which lead to skin disease and deafness. Functional studies with Cx proteins have given insights into disease-associated mechanisms and non-gap junctional roles for Cx proteins...
  32. doi Erythrokeratoderma variabilis caused by a recessive mutation in GJB3
    D Fuchs-Telem
    Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel
    Clin Exp Dermatol 36:406-11. 2011
    ..EKV) is a rare disorder of cornification usually associated with dominant mutations in the genes GJB3 and GJB4, which code for connexin (Cx)31 and Cx30...
  33. doi Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermia
    S Wei
    Department of Dermatology, Zhujiang Hospital, Nanfang Medical University, Guangzhou, China
    Clin Exp Dermatol 36:399-405. 2011
    ..The genetic basis for PSEK is not clear. PSEK shares many clinical features with erythrokeratodermia variabilis (EKV), which is associated with mutations in genes coding for gap junction beta (GJB) 3 and 4...
  34. pmc Zebrafish cx30.3: identification and characterization of a gap junction gene highly expressed in the skin
    Liang Tao
    Department of Biological Sciences, University of Manitoba, Winnipeg, Canada
    Dev Dyn 239:2627-36. 2010
    ..Thus, zebrafish could potentially serve as an excellent model to study disorders of the skin and deafness that result from human connexin mutations...
  35. doi Familial erythrokeratodermia variabilis with pustular lesions: a new variant?
    Li Zhang
    State Key Department of Dermatology, No 1 Hospital of China Medical University, Shenyang 110001, China
    Acta Derm Venereol 90:274-8. 2010
    ..Mitochondria vacuolation was noted in keratinocytes by electron microscopic examination. No GJB3 and GJB4 pathogenic mutation was detected...
  36. doi Novel expression patterns of connexin 30.3 in adult rat cochlea
    Wen Hung Wang
    Department of Otolaryngology, Chang Gung Memorial Hospital at Chia Yi, Taiwan, ROC
    Hear Res 265:77-82. 2010
    Mutations of the GJB4 gene, encoding connexin 30.3 (CX30.3), are associated with skin disorders. Recently, this gene was also detected in deaf individuals without skin disorders. However, the functional roles of CX30...
  37. pmc Connexins and the kidney
    Fiona Hanner
    Department of Physiology and Biophysics, Zilkha Neurogenetic Institute, University of Southern California, 1501 San Pablo St, Los Angeles, CA 90033, USA
    Am J Physiol Regul Integr Comp Physiol 298:R1143-55. 2010
    ..At the systemic level, renal Cxs may help regulate blood pressure and may be involved in hypertension and diabetes...
  38. doi Connexin 37 is localized in renal epithelia and responds to changes in dietary salt intake
    Adelina Stoessel
    Institute of Anatomy, Charite Universitatsmedizin Berlin, Berlin, Germany
    Am J Physiol Renal Physiol 298:F216-23. 2010
    ..In summary, renal epithelia express Cx37 in their basolateral membranes. Here, the formation of Cx37 gap junctions may be involved in cellular communication and adjustments of vectorial epithelial transport...
  39. doi Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing loss
    Malgorzata Pawelczyk
    Department of Audiology and Phoniatrics, Nofer Institute of Occupational Medicine, 8 Sw Teresy St, Lodz, Poland
    Ann Hum Genet 73:411-21. 2009
    ..Additionally we report significant associations in GJB1, GJB2, GJB4, KCNJ10 and KCNQ1, however due to the lack of replication in the Swedish sample set, these results should be seen ..
  40. doi Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss
    I Nemoto-Hasebe
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Sapporo, Japan
    Br J Dermatol 161:452-5. 2009
    ..Mutations in connexin genes including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30...
  41. pmc EKV mutant connexin 31 associated cell death is mediated by ER stress
    Daniel Tattersall
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK
    Hum Mol Genet 18:4734-45. 2009
    ..Distinct dominantly inherited mutations in Cx31 cause the skin disease erythrokeratoderma variabilis (EKV) and hearing loss with or without neuropathy...
  42. ncbi Functional expression of connexin30 and connexin31 in the polarized human airway epithelium
    Ludovic Wiszniewski
    Laboratory of Clinical Investigation III, Department of Pediatrics, Geneva University Hospitals, Geneva, Switzerland
    Differentiation 75:382-92. 2007
    ..These results lay the ground for studying the role of Cx-mediated cell-cell communication during repair following AEC injury and exploring Cx-targeted interventions to modulate the healing process...
  43. ncbi Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in Taiwan
    Jiann jou Yang
    Genetics Laboratory and Department of BioMedical Sciences, Chung Shan Medical University, Taichung, Taiwan, ROC
    Audiol Neurootol 12:198-208. 2007
    ..These genes included Cx26 (GJB2), Cx29 (GJE1), Cx30 (GJB6), Cx30.3 (GJB4), Cx31 (GJB3), Cx32 (GJB1), Cx43 (GJA1) and pseudogene [rho] of Cx43 (rho GJA1)...
  44. ncbi Erythrokeratodermia variabilis with erythema gyratum repens-like lesions
    Marina Landau
    Dermatology Unit, Edith Wolfson Medical Center, Holon, Israel, Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Pediatr Dermatol 19:285-92. 2002
    A large pedigree with erythrokeratodermia variabilis (EKV) and erythema gyratum repens-like lesions is described. Clinical, laboratory, and histologic findings of this family are presented...
  45. ncbi Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
    Simone Diestel
    Department of Biochemistry, Institute of Animal Anatomy and Physiology, University of Bonn, 53115 Bonn, Germany
    Biochem Biophys Res Commun 296:721-8. 2002
    The autosomal dominant skin disorder erythrokeratodermia variabilis (EKV) has been linked to mutations in the human connexin31 (hCx31) gene, which is expressed in the epidermis...
  46. ncbi Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations
    Wei Li Di
    Centre for Cutaneous Research, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London E1 2AT, UK
    Hum Mol Genet 11:2005-14. 2002
    ..mutations in the gene (GJB3) encoding connexin 31 (Cx31) underlie the skin disease erythrokeratoderma variabilis (EKV) or sensorineural hearing loss with/without peripheral neuropathy...
  47. ncbi A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
    Irit Gottfried
    Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Hum Mol Genet 11:1311-6. 2002
    Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis...
  48. ncbi A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
    Nuria Lopez-Bigas
    Medical and Molecular Genetics Center IRO, Hospital Duran i Reynals, L Hospitalet, Barcelona, Spain
    Hum Mutat 19:458. 2002
    ..GJB2, GJB3 and GJB6 are also mutated in patients with hyperproliferative skin disorders. The human GJB4 gene has been deduced in silico and a mutation in a family with erythrokeratodermia variabilis has been reported...
  49. ncbi Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels
    D Manthey
    Institut fur Genetik, Abt Molekulargenetik, Universitat Bonn, Römerstr 164, 53117 Bonn, Germany
    J Membr Biol 181:137-48. 2001
    ..Moreover, the voltage sensitivity was slightly reduced. This suggests that these cytoplasmic domains interfere directly or indirectly with the diffusivity, the conductance and voltage gating of the channels...
  50. ncbi Cloning and analysis of the untranslated regions of the Xenopus laevis Connexin30 mRNA
    H A Meijer
    Department of Developmental Biology, Utrecht University, Padualaan 8, 3584 CH, Utrecht, The Netherlands
    Gene 258:71-6. 2000
    ..In vivo analyses after injection of the transcripts into one cell-stage Xenopus embryos showed that the Cx30 3' UTR enables very efficient translation. The 5' UTR was slightly inhibitory compared with the globin 5' UTR...
  51. pmc Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis
    F Macari
    Department of Dermatology, University Hospital, CH 1011 Lausanne, Switzerland
    Am J Hum Genet 67:1296-301. 2000
    Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques...
  52. ncbi The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3
    G Richard
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, PA 19107, USA
    Hum Genet 106:321-9. 2000
    ..Erythrokeratodermia variabilis (EKV) is an autosomal dominant genodermatosis with a striking phenotype characterized by the independent occurrence of ..
  53. ncbi Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis
    G Richard
    Genetic Studies Section, Laboratory of Skin Biology, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 20:366-9. 1998
    Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability...
  54. ncbi Erythrokeratodermia variabilis present at birth: case report and review of the literature
    J D Hendrix
    Department of Dermatology, University of Virginia School of Medicine, Charlottesville 22908, USA
    Pediatr Dermatol 12:351-4. 1995
    A healthy boy had the distinctive lesions of erythrokeratodermia variabilis (EKV) at birth. Twenty-eight patients described in the literature had EKV that presented in childhood...
  55. ncbi Multiple members of the connexin gene family participate in preimplantation development of the mouse
    T C Davies
    Department of Zoology, University of Western Ontario, London, Canada
    Dev Genet 18:234-43. 1996
    ..The expression of multiple connexin genes during this early period of embryogenesis (when there are only two distinct cell types) raises questions about the functional significance of connexin diversity in this context...
  56. ncbi Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinate
    A P Lavrijsen
    Department of Dermatology, University Hospital Leiden, The Netherlands
    Br J Dermatol 129:547-53. 1993
    ..ichthyosis [CI] [n = 10], dyskeratosis follicularis [Darier's disease; DD] [n = 8], erythrokeratoderma variabilis [EKV] [n = 8]), and 21 healthy volunteers, using two non-invasive methods: transepidermal water loss (TEWL) measuring ..
  57. ncbi Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin
    H Hennemann
    Abteilung Molekulargenetik, Universitat Bonn, Germany
    J Biol Chem 267:17225-33. 1992
    ..Microinjection of Cx30.3, but not Cx31.1 cRNA, into Xenopus oocyte pairs induced formation of functional gap junction channels with unique voltage-gated parameters compared to other connexins expressed similarly...
  58. ncbi Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communication
    Julie Dufresne
    Institut National de la Recherche Scientifique Institut Armand Frappier, Universite du Quebec, 245 Hymus Boulevard, Pointe Claire, Quebec, Canada H9R 1G6
    Am J Physiol Cell Physiol 284:C33-43. 2003
    ..The presence of multiple connexins (Cxs) and their differential regulation suggest that these play different roles in epididymal development...
  59. ncbi Erythrokeratodermia variabilis in a Jewish Kurdish family
    S Hacham-Zadeh
    Clin Genet 13:404-8. 1978
    ..The affected members had mild to severe expressions of the disease. The skin lesions were not influenced by puberty, pregnancy or old age. None of the patients had lesions of the palms and soles or abnormal neurological signs...
  60. ncbi Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlations
    Gabriele Richard
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania 19107, USA
    J Invest Dermatol 120:601-9. 2003
    ..A recent report suggested the involvement of another connexin gene (GJB4) in the etiology of erythrokeratodermia variabilis...
  61. ncbi The vertebrate connexin family
    V Cruciani
    The Norwegian Radium Hospital, Institute for Cancer Research, 0310, Oslo, Norway
    Cell Mol Life Sci 63:1125-40. 2006
    ..As judged from the recently defined connexins in tunicates, the original connexin might be related to the ortholog groups of Cx36, 39.2, 43.4, 45 or 47...
  62. ncbi Structural variation in the 16S-23S rRNA intergenic spacers of Vibrio parahaemolyticus
    T Maeda
    Department of Food Science and Technology, National Fisheries University, Shimonoseki, 759 6595, Yamaguchi, Japan
    FEMS Microbiol Lett 192:73-7. 2000
    ..the number and the composition of the tRNA genes included, and were designated IGS-0, IGS-E, IGS-IA, IGS-AE, IGS-EKV and IGS-EKAV...
  63. ncbi [Erythrokeratodermia variabilis (EKV)--a disorder due to altered epidermal expression of gap junction proteins]
    Sonja Ständer
    Klinik und Poliklinik für Hautkrankheiten, Universitatsklinikum Munster
    J Dtsch Dermatol Ges 3:354-8. 2005
    Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant genodermatosis with disturbed epidermal differentiation. Its clinical picture varies from transient, fast moving erythema to persistent brown hyperkeratoses...
  64. ncbi Running over rough terrain: guinea fowl maintain dynamic stability despite a large unexpected change in substrate height
    Monica A Daley
    Concord Field Station, MCZ, Harvard University, Old Causeway Road, Bedford, MA 01730, USA
    J Exp Biol 209:171-87. 2006
    ..to the unexpected perturbation fell into three general categories: (1) conversion of vertical energy (EV=EP+EKv) to horizontal kinetic energy (EKh), (2) absorption of EV through negative muscular work (-DeltaEcom), or (3) ..
  65. ncbi Clinical and genetic heterogeneity of erythrokeratoderma variabilis
    John E A Common
    Centre for Cutaneous Research, Institute of Cell and Molecular Science, Barts and the London School of Medicine and Dentistry, Queen Mary, University of London, Whitechapel, London, UK
    J Invest Dermatol 125:920-7. 2005
    The skin disease erythrokeratoderma variabilis (EKV) has been shown to be associated with mutations in GJB3 and GJB4 encoding connexin (Cx)31 and Cx30.3, respectively...
  66. ncbi Further delineation of the hypotrichosis-deafness syndrome
    Maurice A M van Steensel
    Department of Dermatology, University Hospital Maastricht, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    Eur J Dermatol 15:437-8. 2005
    ..disorders and we propose that some cases of erythrokeratodermia variabilis without mutations in either GJB3 or GJB4 but with deafness may be caused by mutations in GJB2...
  67. ncbi Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells
    Li Qiang He
    National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
    Acta Biochim Biophys Sin (Shanghai) 37:547-54. 2005
    Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown...
  68. ncbi An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22
    Thomas G Saba
    McGill University and Genome Quebec Innovation Centre, Montreal, QC, H3A 1A4, Canada
    Hum Genet 116:167-71. 2005
    ..Mutations in connexin 31 (GJB3) and connexin 30.3 (GJB4), implicated in previous reports of EKV, and connexin 26 (GJB2), implicated in palmoplantar keratoderma, were ..
  69. ncbi mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouse
    Subhash C Juneja
    Department of Zoology, The University of Western Ontario, London, Canada
    Indian J Physiol Pharmacol 47:147-56. 2003
    ..In developmentally impaired fetal ovary, only Cx43 was not expressed as expected but other three connexins were expresed. The study may be useful in interpreting human testis defects in infertility cases...
  70. ncbi Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis
    Laure Plantard
    Laboratory of Cutaneous Biology, Dermatogenetic Unit, CHUV BT 437, Lausanne, Switzerland
    Hum Mol Genet 12:3287-94. 2003
    ..We recently identified mutations in either GJB3 or GJB4 genes, encoding respectively connexin 31 (Cx31) or 30.3 (Cx30...
  71. ncbi Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studies
    Ken Arita
    Department of Dermatology, Hokkaido University Graduate School of Medicine, North 15 West 7, Kita ku, Sapporo 060 8638, Japan
    Acta Derm Venereol 83:266-70. 2003
    ..1 genes in this patient. The results indicate that erythrokeratoderma variabilis is pathologically heterogeneous, and that abnormalities in keratinization other than Cx30.3 and 31 gene mutations may underlie some forms of this disease...
  72. ncbi Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro
    F Rouan
    Department of Dermatology and Cutaneous Biology, Jefferson Medical College, Philadelphia, PA 19107, USA
    Exp Dermatol 12:191-7. 2003
    ..several missense mutations of the connexin gene GJB3 encoding connexin 31 (Cx31) in erythrokeratodermia variabilis (EKV), an autosomal dominant skin disorder...
  73. ncbi Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridization
    H J Schwarz
    Institut fur Genetik, Abt Molekulargenetik, Universitat Bonn, Germany
    Somat Cell Mol Genet 18:351-9. 1992
    ..3 have previously been assigned. Interestingly three of them (coding for Cx31, Cx31.1, and Cx30.3) are preferentially expressed in skin. Possibly some of the connexin genes clustered on mouse chromosome 4 may be regulated coordinately...

Research Grants14

  1. Internalization of gap junctions as a regulatory mechanism of direct GJIC
    Matthias M Falk; Fiscal Year: 2010
    ....
  2. Pathogenesis of Disease-Associated Connexin-31 Mutations
    Zhuohua Zhang; Fiscal Year: 2007
    ..Mutations in connexin-31 are associated with hearing impairment, erythrokeratodermia variabilis (EKV), and peripheral neuropathy...
  3. CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROME
    Gabriele Richard; Fiscal Year: 2002
    ....
  4. CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATION
    Gabriele Richard; Fiscal Year: 2004
    ..I now plan to clone the human GJB4 gene, and to screen the epidermally expressed connexin genes for mutations in EKV, other erythrokeratodermias and ..