Research & Literature

Novel mutations in GJB6 and GJB2 in Clouston syndrome.

Liu YT, Guo K, Li J, et al.

Clinical and experimental dermatology 2015; (40(7)):770-3 doi:10.1111/ced.12654.

Connexin43 in retinal injury and disease.

Danesh-Meyer HV, Zhang J, Acosta ML, et al.

Progress in retinal and eye research 2016; (51()):41-68.

Immune system disturbances in Clouston syndrome.

Pietrzak A, Grywalska E, Gerkowicz A, et al.

International journal of dermatology 2016; (55(5)):e241-9 doi:10.1111/ijd.13152.

Clouston Syndrome: 25-year follow-up of a patient.

Trídico LA, Antonio JR, Pozetti EM, et al.

Anais brasileiros de dermatologia 2015; (90(6)):897-9.

From Hyperactive Connexin26 Hemichannels to Impairments in Epidermal Calcium Gradient and Permeability Barrier in the Keratitis-Ichthyosis-Deafness Syndrome.

García IE, Bosen F, Mujica P, et al.

The Journal of investigative dermatology 2016; (136(3)):574-583 doi:10.1016/j.jid.2015.11.017.

A known mutation in GJB6 in a large Chinese family with hidrotic ectodermal dysplasia.

Yang R, Hu Z, Kong Q, et al.

Journal of the European Academy of Dermatology and Venereology : JEADV 2016; (30(8)):1362-5 doi:10.1111/jdv.13600.

[A gene study of a family with hidrotic ectodermal dysplasia].

Qiao WX, Liu L

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2016; (18(11)):1141-1144.

Associations between ectodermal dysplasia, psychological distress and quality of life in a group of adults with oligodontia.

Saltnes SS, Jensen JL, Sæves R, et al.

Acta odontologica Scandinavica 2017; (75(8)):564-572 doi:10.1080/00016357.2017.1357189.

Diffuse Palmoplantar Keratoderma, Onychodystrophy, universal Hypotrichosis and Cysts.

Arif T, Amin SS, Adil M, Mohtashim M

Acta dermatovenerologica Croatica : ADC 2017; (25(2)):161-163.

A novel 1-bp deletion mutation and extremely skewed X-chromosome inactivation causing severe X-linked hypohidrotic ectodermal dysplasia in a Chinese girl.

Lei K, Zhang Y, Dong Z, et al.

Clinical and experimental dermatology 2018; (43(1)):60-62 doi:10.1111/ced.13241.

Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders.

Xu L, Carrer A, Zonta F, et al.

Frontiers in molecular neuroscience 2017; (10()):298 doi:10.3389/fnmol.2017.00298.

Do you know this syndrome? Clouston syndrome.

Sanches S, Rebellato PRO, Fabre AB, Campos GLM

Anais brasileiros de dermatologia 2017; (92(3)):417-418 doi:10.1590/abd1806-4841.20175716.

Mechanistic effect of the human GJB6 gene and its mutations in HaCaT cell proliferation and apoptosis.

Lu Y, Zhang R, Wang Z, et al.

Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologica 2018; (51(9)):e7560 doi:10.1590/1414-431X20187560.

Clinical, radiographic, and genetic characteristics of hypohidrotic ectodermal dysplasia: A cross-sectional study.

Ngoc VTN, Duong NT, Chu DT, et al.

Clinical genetics 2018; (94(5)):484-486 doi:10.1111/cge.13435.

Christ-Siemens-Touraine Syndrome: A Rare Case Report.

Kumar A, Thomas P, Muthu T, Mathayoth M

Journal of pharmacy & bioallied sciences 2019; (11(1)):102-104 doi:10.4103/jpbs.JPBS_36_18.

Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome.

Sukakul T, Yang HS, Onoufriadis A, et al.

The Journal of dermatology 2019; (46(9)):e329-e330 doi:10.1111/1346-8138.14867.

Mutation-Proved Clouston Syndrome in a Large Indian Family with a Variant Phenotype.

Khatter S, Puri RD, Mahay SB, et al.

Indian journal of dermatology 2019; (64(2)):143-145 doi:10.4103/ijd.IJD_510_17.

Novel clinical features associated with Clouston syndrome.

Cammarata-Scalisi F, Rinelli M, Pisaneschi E, et al.

International journal of dermatology 2019; (58(8)):e143-e146 doi:10.1111/ijd.14507.

A potent antagonist antibody targeting connexin hemichannels alleviates Clouston syndrome symptoms in mutant mice.

Kuang Y, Zorzi V, Buratto D, et al.

EBioMedicine 2020; (57()):102825 doi:10.1016/j.ebiom.2020.102825.

Connexin hemichannel inhibition improves skin pathology in Clouston syndrome mice.

Bruzzone R, White TW

EBioMedicine 2020; (57()):102856 doi:10.1016/j.ebiom.2020.102856.

A recurrent mutation of GJB6 in a big Chinese family with Hidrotic ectodermal dysplasia.

Zhan Y, Luo S, Pi Z, Zhang G

Hereditas 2020; (157(1)):34 doi:10.1186/s41065-020-00148-8.

Characterization of a novel gross deletion and insertion mutation in EDA gene causing hypohidrotic ectodermal dysplasia.

Sun J, Chen L, Han S, et al.

The Journal of dermatology 2021; (48(1)):e29-e30 doi:10.1111/1346-8138.15653.

[Detection of EDA gene mutation and phenotypic analysis in patients with hypohidrotic ectodermal dysplasia].

Wu JY, Yu M, Sun SC, et al.

Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences 2020; (53(1)):24-33.

Prenatal ultrasound findings of ectodermal dysplasia: a case report.

Li L, Zhou Y, Tian R, Zhang C

BMC pregnancy and childbirth 2022; (22(1)):100 doi:10.1186/s12884-022-04430-7.

Reproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia.

Leo B, Schneider H, Hammersen J

Journal of the European Academy of Dermatology and Venereology : JEADV 2022; (36(10)):1863-1870 doi:10.1111/jdv.18267.

Recent insights into gap junction biogenesis in the cochlea.

Defourny J, Thiry M

Developmental dynamics : an official publication of the American Association of Anatomists 2023; (252(2)):239-246 doi:10.1002/dvdy.538.

A new path to mental disorders: Through gap junction channels and hemichannels.

Zlomuzica A, Plank L, Dere E

Neuroscience and biobehavioral reviews 2022; (142()):104877 doi:10.1016/j.neubiorev.2022.104877.

A novel variant in the GJB6 gene in a large Chinese family with a unique phenotype of Clouston syndrome.

Huang H, Chen M, Liu X, et al.

Frontiers of medicine 2023; (17(2)):330-338 doi:10.1007/s11684-022-0933-2.

The Ectodermal Dysplasias-Burden of Disease Score: Development and Validation of an Ectodermal Dysplasia Family/Parental Burden Score.

Dufresne H, Maincent O, Taieb C, et al.

Acta dermato-venereologica 2023; (103()):adv5203 doi:10.2340/actadv.v103.5203.

Clouston Syndrome: Report of a Jordanian Family with GJB6 Gene Mutation.

Murshidi R, Al-Lala H

Case reports in dermatological medicine 2023; (2023()):5577379 doi:10.1155/2023/5577379.

Ectodermal Dysplasia - An Overview and Update.

Dev A, Malhi K, Mahajan R

Indian dermatology online journal 2024; (15(3)):405-414 doi:10.4103/idoj.idoj_599_23.

Botanical extract combined with minoxidil improve hidrotic ectodermal dysplasia caused by p.G11R mutations: a case report.

Zhong S, Huang C, Zhuang M, et al.

The Journal of dermatological treatment 2024; (35(1)):2378163 doi:10.1080/09546634.2024.2378163.

A review on molecular scissoring with CRISPR/Cas9 genome editing technology.

Irfan M, Majeed H, Iftikhar T, Ravi PK

Toxicology research 2024; (13(4)):tfae105 doi:10.1093/toxres/tfae105.

Connexin Hemichannel Inhibition and Human Genodermatoses.

Mammano F, Paller AS, White TW

The Journal of investigative dermatology 2025; (145(4)):790-799 doi:10.1016/j.jid.2024.08.003.

The genetic and molecular basis of a connexin-linked skin disease.

Lucaciu SA, Laird DW

The Biochemical journal 2024; (481(22)):1639-1655 doi:10.1042/BCJ20240374.

Application of CRISPR-Cas9 in microbial cell factories.

Yang J, Song J, Feng Z, Ma Y

Biotechnology letters 2025; (47(3)):46 doi:10.1007/s10529-025-03592-6.

Revolutionizing regeneration: stem cells transform treatment of hidrotic ectodermal dysplasia (Clouston syndrome).

Ullah A, Rehman UU, Zeb Y, et al.

Regenerative medicine 2025; (20(12)):753-772 doi:10.1080/17460751.2025.2593161.

A Nanoimprinted Photothermal Chip for On-Demand Spatiotemporal Activation of CRISPR/Cas9 Gene Editing.

Chen K, Zhu J, Fan C, et al.

Nano letters 2026; (26(1)):532-542 doi:10.1021/acs.nanolett.5c05571.