Genomes and Genes
Gene Symbol: GJB4
Description: gap junction protein beta 4
Alias: CX30.3, EKV, gap junction beta-4 protein, connexin 30.3, gap junction protein, beta 4, 30.3kDa
- Immunohistochemical demonstration of connexin-related epithelization defects in a lamb caused by (erythro)keratodermia variabilisW 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...
- Erythrokeratoderma variabilis-like ichthyosis in Chanarin-Dorfman syndromeR 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...
- Hafnium transistor design for neural interfacingDavid W Parent
Conf Proc IEEE Eng Med Biol Soc 2008:3356-9. 2008A 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...
- Novel and recurrent connexin 30.3 and connexin 31 mutations associated with erythrokeratoderma variabilisC 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...
- Erythrokeratodermia variabilis et progressivaAkemi Ishida-Yamamoto
Department of Dermatology, Asahikawa Medical University, Asahikawa, Japan
J Dermatol 43:280-5. 2016..EKVP is most often transmitted in an autosomal dominant manner. Causal mutations were found in the GJB3, GJB4 and GJA1 genes encoding connexins 31, 30.3 and 43, respectively...
- Bigenic connexin mutations in a patient with hidrotic ectodermal dysplasiaRichard Kellermayer
Department of Medical Genetics and Child Development, University Medical School of Pecs, József A u 7, Pecs 7623, Hungary
Eur J Dermatol 15:75-9. 2005..Mutations in five gap junction genes, including GJB2 (Cx26), GJB3 (Cx31), GJB4 (Cx30...
- A new, recurrent mutation of GJB3 (Cx31) in erythrokeratodermia variabilisS M Morley
Department of Dermatology, Ninewells Hospital, Dundee, UK
Br J Dermatol 152:1143-8. 2005..EKV may be caused by pathogenic mutations in one of two neighbouring connexin genes, GJB3 and GJB4, encoding the gap junction proteins Cx31 and Cx30.3, respectively...
- Overview of skin diseases linked to connexin gene mutationsLyubov Avshalumova
Clinical Dermatology, Private Practice, Valley Stream, NY, USA
Int J Dermatol 53:192-205. 2014..Connexin 30.3 and 31 mutations lead to erythrokeratoderma variabilis, and mutations in connexin 43 are correlated with oculodentodigital dysplasia. Provided is a review of these mutations and related skin disorders. ..
- Both low-dose arotinoid ethylester and acitretin are effective in the treatment of familial erythrokeratodermia variabilisLi Zhang
Department of Dermatology, No 1 Hospital of China Medical University, Shenyang, China
Dermatol Ther 27:240-3. 2014We previously reported a large Chinese pedigree of erythrokeratodermia variabilis (EKV). A unique feature was that some of the affected members experienced transitory pustules on the border of classic lesions...
- No exonic mutations at GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR genes responsible for a Chinese patient affected by progressive symmetric erythrokeratodermia with pseudoainhumFusheng Zhou
Institute of Dermatology and Department of Dermatology at No 1 Hospital, Anhui Medical University, Hefei, Anhui, China Department of Dermatology and Venereology, Anhui Medical University, Hefei, Anhui, China State Key Laboratory of Dermatology Incubation, Ministry of Science and Technology, Hefei, Anhui, China
Int J Dermatol 53:1111-3. 2014..The GJB2, GJB3, GJB4, GJB6, ARS (Component B), and LOR gene mutation might contribute to PSEK manifestation...
- Association between mutations in the gap junction β4 gene and nonsyndromic hearing loss: genotype-phenotype correlation patternsTung Cheng Li
Institute of Medicine, Chung Shan Medical University, Taichung 402, Taiwan, R O C
Mol Med Rep 11:619-24. 2015..However, few studies have investigated the correlation between variants in the gap junction β4 (GJB4) gene and phenotype in patients with nonsyndromic hearing loss...
- Erythrokeratodermia variabilis et progressiva allelic to oculo-dento-digital dysplasiaSabine Duchatelet
1 INSERM UMR 1163, Laboratory of Genetic Skin Diseases, Imagine Institute for Genetic Diseases, Paris, France 2 University Paris Descartes, Sorbonne Paris Cité, Paris, France
J Invest Dermatol 135:1475-8. 2015..and genetic heterogeneity, most often transmitted in an autosomal dominant manner, caused by mutations in GJB3 and GJB4 genes encoding connexins (Cx)31 and 30.3, respectively. In this issue, Boyden et al...
- Pathogenic Cx31 is un/misfolded to cause skin abnormality via a Fos/JunB-mediated mechanismChengyuan Tang
Institute of Precision Medicine, The Third Xiangya Hospital, and the State Key Laboratory of Medical Genetics
Hum Mol Genet 24:6054-65. 2015..connexin-31 (Cx31) are associated with multiple human diseases, including familial erythrokeratodermia variabilis (EKV). The pathogenic mechanism of EKV-associated Cx31 mutants remains largely elusive...
- Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10A Abdul-Wahab
St John s Institute of Dermatology, King s College London Guy s Campus, London, UK
Clin Exp Dermatol 41:290-3. 2016..3 (GJB4) that might account for the clinical heterogeneity seen in this family...
- A case of erythrokeratoderma variabilis: loosened gap junctions in the acanthotic epidermisYukiko 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...
- Rat epidermal keratinocytes as an organotypic model for examining the role of Cx43 and Cx26 in skin differentiationAmy C Maher
Department of Anatomy and Cell Biology, University of Western Ontario, London, Ontario, Canada
Cell Commun Adhes 12:219-30. 2005....
- Cellular mechanisms of mutant connexins in skin disease and hearing lossJohn 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...
- Does recessive EKV exist?Maurice A M van Steensel
J Invest Dermatol 124:268-9; author reply 270-1. 2005
- Characterization of connexin 30.3 and 43 in thymocytesPaula 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...
- Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichiaAmy 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...
- Connexin 30.3 (GJB4) is not required for normal skin function in humansM van Geel
Br J Dermatol 147:1275-7. 2002
- Acitretin for erythrokeratodermia variabilis in a 9-year-old girlRobin A C Graham-Brown
Department of Dermatology, Leicester Royal Infirmary, Leicester, United Kingdom
Pediatr Dermatol 19:510-2. 2002Erythrokeratodermia variabilis (EKV) is a rare genodermatosis with a unique phenotype. Treatment with oral synthetic retinoids is well documented in adults, but not in children...
- [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. 2013Erythrokeratodermia 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...
- Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3Daniz 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...
- Erythrokeratodermia variabilis: report of two cases and a novel missense variant in GJB4 encoding connexin 30.3Haris 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...
- Pathogenic connexin-31 forms constitutively active hemichannels to promote necrotic cell deathJingwei 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...
- A low power MICS band phase-locked loop for high resolution retinal prosthesisJiawei 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...
- Erythrokeratoderma variabilis without GJB3 or GJB4 mutation: a review of Japanese patientsM Nakamura
Br J Dermatol 157:410-1. 2007
- Analysis of gene polymorphisms associated with K ion circulation in the inner ear of patients susceptible and resistant to noise-induced hearing lossMalgorzata 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 ..
- Connexin expression and gap junctional coupling in human cumulus cells: contribution to embryo qualityH 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...
- Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing lossI 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...
- The missense mutation G12D in connexin30.3 can cause both erythrokeratodermia variabilis of Mendes da Costa and progressive symmetric erythrokeratodermia of GottronM 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)...
- Connexin mutations in Brazilian patients with skin disorders with or without hearing lossFabiana 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...
- Expression pattern of connexins in the corneal and limbal epithelium of a primateXiaoyong 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...
- Connexin 30.3 is expressed in the kidney but not regulated by dietary salt or high blood pressureFiona 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...
- Erythrokeratoderma variabilisChristopher 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...
- EKV mutant connexin 31 associated cell death is mediated by ER stressDaniel 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...
- Connexin 37 is localized in renal epithelia and responds to changes in dietary salt intakeAdelina 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...
- Connexins and the kidneyFiona 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...
- Novel expression patterns of connexin 30.3 in adult rat cochleaWen Hung Wang
Department of Otolaryngology, Chang Gung Memorial Hospital at Chia Yi, Taiwan, ROC
Hear Res 265:77-82. 2010Mutations 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...
- 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...
- Prospective variants screening of connexin genes in children with hearing impairment: genotype/phenotype correlationJiann 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)...
- Zebrafish cx30.3: identification and characterization of a gap junction gene highly expressed in the skinLiang 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...
- Expression of connexins and the effect of retinoic acid in oral keratinocytesSetsuko 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...
- Functional expression of connexin30 and connexin31 in the polarized human airway epitheliumLudovic 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...
- Evidence for the absence of mutations at GJB3, GJB4 and LOR in progressive symmetrical erythrokeratodermiaS 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...
- Erythrokeratoderma variabilis caused by a recessive mutation in GJB3D 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...
- Key functions for gap junctions in skin and hearingClaire 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...
- Structural variation in the 16S-23S rRNA intergenic spacers of Vibrio parahaemolyticusT 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...
- Genetic heterogeneity in erythrokeratodermia variabilis: novel mutations in the connexin gene GJB4 (Cx30.3) and genotype-phenotype correlationsGabriele 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...
- Expression of multiple connexins in the rat epididymis indicates a complex regulation of gap junctional communicationJulie 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...
- Erythrokeratodermia variabilis with erythema gyratum repens-like lesionsMarina Landau
Dermatology Unit, Edith Wolfson Medical Center, Holon, Israel, Bruce Rappaport Faculty of Medicine, Technion, Haifa, Israel
Pediatr Dermatol 19:285-92. 2002A large pedigree with erythrokeratodermia variabilis (EKV) and erythema gyratum repens-like lesions is described. Clinical, laboratory, and histologic findings of this family are presented...
- Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cellsSimone Diestel
Department of Biochemistry, Institute of Animal Anatomy and Physiology, University of Bonn, 53115 Bonn, Germany
Biochem Biophys Res Commun 296:721-8. 2002The autosomal dominant skin disorder erythrokeratodermia variabilis (EKV) has been linked to mutations in the human connexin31 (hCx31) gene, which is expressed in the epidermis...
- Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutationsWei 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...
- A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 proteinIrit Gottfried
Department of Human Genetics and Molecular Medicine, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Hum Mol Genet 11:1311-6. 2002Erythrokeratodermia variabilis (EKV) is a skin disorder characterized by variable (transient) erythemas and fixed keratosis...
- A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment familiesNuria 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...
- Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channelsD 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...
- Cloning and analysis of the untranslated regions of the Xenopus laevis Connexin30 mRNAH 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...
- Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitroF 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...
- Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilisF Macari
Department of Dermatology, University Hospital, CH 1011 Lausanne, Switzerland
Am J Hum Genet 67:1296-301. 2000Erythrokeratodermia variabilis (EKV) is an autosomal dominant keratinization disorder characterized by migratory erythematous lesions and fixed keratotic plaques...
- The spectrum of mutations in erythrokeratodermias--novel and de novo mutations in GJB3G 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 ..
- Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilisG 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. 1998Erythrokeratodermia variabilis (EKV, OMIM 133200) is an autosomal dominant genodermatosis with considerable intra- and interfamilial variability...
- Erythrokeratodermia variabilis present at birth: case report and review of the literatureJ D Hendrix
Department of Dermatology, University of Virginia School of Medicine, Charlottesville 22908, USA
Pediatr Dermatol 12:351-4. 1995A 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...
- Multiple members of the connexin gene family participate in preimplantation development of the mouseT 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...
- Barrier function parameters in various keratinization disorders: transepidermal water loss and vascular response to hexyl nicotinateA 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 ..
- Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skinH 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...
- Chromosomal assignments of mouse connexin genes, coding for gap junctional proteins, by somatic cell hybridizationH 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...
- Clinical and genetic heterogeneity of erythrokeratoderma variabilisJohn 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. 2005The 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...
- Erythrokeratodermia variabilis - variant with circumscribed variable erythema and periorificial fixed Bazex Dupré erythemaLigia 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)...
- 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 systemJun ichi Koizumi
Department of Otolaryngology, Sapporo Medical University School of Medicine, S1 W17, Sapporo, Japan
J Membr Biol 218:1-7. 2007....
- 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. 2007Erythrokeratodermia variabilis (EKV) is a rare autosomal dominant human genodermatosis. Its clinical appearance varies from transient, fast moving erythemas to persistent brown hyperkeratoses...
- Erythrokeratodermia variabilis in a Jewish Kurdish familyS 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...
- Identification of mutations in members of the connexin gene family as a cause of nonsyndromic deafness in TaiwanJiann 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)...
- The vertebrate connexin familyV 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...
- [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. 2005Erythrokeratodermia 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...
- Running over rough terrain: guinea fowl maintain dynamic stability despite a large unexpected change in substrate heightMonica 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) ..
- Progressive symmetrical erythrokeratoderma: report of a Turkish family and evaluation for loricrin and connexin gene mutationsA 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...
- Further delineation of the hypotrichosis-deafness syndromeMaurice 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...
- Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cellsLi Qiang He
National Laboratory of Medical Genetics, Central South University, Changsha 410078, China
Acta Biochim Biophys Sin (Shanghai) 37:547-54. 2005Mutations in connexin 31 (Cx31) are associated with erythrokeratodermia variabilis (EKV), hearing impairment and peripheral neuropathy; however, the pathological mechanism of Cx31 mutants remains unknown...
- An atypical form of erythrokeratodermia variabilis maps to chromosome 7q22Thomas 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 ..
- mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouseSubhash 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...
- Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilisLaure 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...
- Erythrokeratoderma variabilis without connexin 31 or connexin 30.3 gene mutation: immunohistological, ultrastructural and genetic studiesKen 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...
- Internalization of gap junctions as a regulatory mechanism of direct GJICMatthias M Falk; Fiscal Year: 2013....
- CONNEXIN MUTATIONS IN HUMAN SKIN DISEASEThomas White; Fiscal Year: 2001..of mutations in human connexin genes underlying palmoplantar keratodoma (PPK) and erythrokeratodermia variabilis (EKV)...
- CLINICAL AND GENETIC STUDIES OF NETHERTON SYNDROMEGabriele Richard; Fiscal Year: 2002....
- CONNEXINS AND THEIR ROLE IN EPIDERMAL DIFFERENTIATIONGabriele 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 ..