Associated Papers
Connexins in epidermal health and diseases: insights into their mutations, implications, and therapeutic solutions.
Yasarbas SS et al.
Frontiers in Physiology, 2024
Two novel MBTPS2 missense mutations impairing S2P proteolytic activity lead to IFAP syndrome with new phenotypic anomalies.
Caengprasath N et al.
Journal of Dermatological Science, 2023
Cytomembrane Trafficking Pathways of Connexin 26, 30, and 43.
Zong YJ et al.
International Journal of Molecular Sciences, 2023
A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome.
Huang H et al.
Frontiers of Medicine, 2023
Hidrotic ectodermal dysplasia in a Chinese pedigree: A case report.
Liao MY et al.
World Journal of Clinical Cases, 2023
Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.
Murshidi R et al.
Case Reports in Dermatological Medicine, 2023
Alopecia, nail dystrophy, and palmoplantar keratoderma in a 7-year-old girl.
Jones ME et al.
Pediatric Dermatology, 2021
A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.
Zhan Y et al.
Hereditas, 2020
Clouston syndrome with dental anomalies, micropores of hair shafts and absence of palmoplantar keratoderma.
Kantaputra PN et al.
The Journal of Dermatology, 2020
GJB6 mutation A88V for hidrotic ectodermal dysplasia in a Chinese family.
Shi X et al.
International Journal of Dermatology, 2019
Assessment of Gap Junction Protein Beta-2 rs3751385 Gene Polymorphism in Psoriasis Vulgaris.
Stylianaki EA et al.
Journal of Clinical Medicine Research, 2019
Novel clinical features associated with Clouston syndrome.
Cammarata-Scalisi F et al.
International Journal of Dermatology, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The connexin 30 A88V mutant reduces cochlear gap junction expression and confers long-term protection against hearing loss.
Kelly JJ et al.
Journal of Cell Science, 2019
Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.
Lu Y et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2018
A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.
Yang R et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Connexin channels in congenital skin disorders.
Lilly E et al.
Seminars in Cell & Developmental Biology, 2016
Functional Analysis of a Novel Connexin30 Mutation in a Large Family with Hearing Loss, Pesplanus, Ichthyosis, Cutaneous Nodules, and Keratoderma.
Pandey N et al.
Annals of Human Genetics, 2016
Novel mutations in GJB6 and GJB2 in Clouston syndrome.
Liu YT et al.
Clinical and Experimental Dermatology, 2015
Mechanisms linking connexin mutations to human diseases.
Kelly JJ et al.
Cell and Tissue Research, 2015
Mutations in Cx30 that are linked to skin disease and non-syndromic hearing loss exhibit several distinct cellular pathologies.
Berger AC et al.
Journal of Cell Science, 2014
Overview of skin diseases linked to connexin gene mutations.
Avshalumova L et al.
International Journal of Dermatology, 2014
[High-throughout detection and analysis of drug-resistance gene mutation for 2465 cases with chronic hepatitis B in Shenzhen].
Chen YY et al.
Zhonghua Shi Yan He Lin Chuang Bing Du Xue Za Zhi = Zhonghua Shiyan He Linchuang Bingduxue Zazhi = Chinese Journal of Experimental and Clinical Virology, 2013
Connexins in epidermal homeostasis and skin disease.
Scott CA et al.
Biochimica Et Biophysica Acta, 2012
Clouston syndrome: first case in Russia.
Marakhonov A et al.
Balkan Journal of Medical Genetics : Bjmg, 2012
Do cell junction protein mutations cause an airway phenotype in mice or humans?
Chang EH et al.
American Journal of Respiratory Cell and Molecular Biology, 2011
Gap junctions in inherited human disease.
Zoidl G et al.
Pflugers Archiv : European Journal of Physiology, 2010
G11R mutation in GJB6 gene causes hidrotic ectodermal dysplasia involving only hair and nails in a Chinese family.
Chen N et al.
The Journal of Dermatology, 2010
Genetic testing in ectodermal dysplasia: availability, clinical utility, and the nuts and bolts of ordering a genetic test.
Bale SJ et al.
American Journal of Medical Genetics. Part A, 2009
Novel mutation p.Gly59Arg in GJB6 encoding connexin 30 underlies palmoplantar keratoderma with pseudoainhum, knuckle pads and hearing loss.
Nemoto-Hasebe I et al.
The British Journal of Dermatology, 2009
A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis.
Baris HN et al.
The British Journal of Dermatology, 2008
Keratitis-ichthyosis-deafness syndrome lacking subjective hearing impairment.
Nemoto-Hasebe I et al.
Acta Dermato-venereologica, 2008
[Mutation screening and prenatal diagnosis of hidrotic ectodermal dysplasia in a Chinese family].
Li W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2006
Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity.
Essenfelder GM et al.
Human Molecular Genetics, 2004
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia.
Jan AY et al.
The Journal of Investigative Dermatology, 2004
Clouston syndrome can mimic pachyonychia congenita.
van Steensel MA et al.
The Journal of Investigative Dermatology, 2003
A mutation in the connexin 30 gene in Chinese Han patients with hidrotic ectodermal dysplasia.
Zhang XJ et al.
Journal of Dermatological Science, 2003
Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential.
Teubner B et al.
Human Molecular Genetics, 2003
A novel connexin 30 mutation in Clouston syndrome.
Smith FJ et al.
The Journal of Investigative Dermatology, 2002
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E.
Jonard L et al.
European Journal of Medical Genetics, 0
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome?
Lazic T et al.
Pediatric Dermatology, 0
Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.
Khatter S et al.
Indian Journal of Dermatology, 0