Results 11 to 20 of about 1,144,906 (160)

Clouston Syndrome Can Mimic Pachyonychia Congenita [PDF]

Journal of Investigative Dermatology, 2003
We studied three families suffering from nail abnormalities who had previously been diagnosed as pachyonychia congenita. No keratin gene mutations were detected. Sequencing of connexin 30 (GJB6 gene) in these patients identified heterozygous missense mutations G11R and A88V that are known to be associated with Clouston syndrome. This unexpected finding
Irwin McLean, Marcel F. Jonkman
exaly   +10 more sources

A Novel Connexin 30 Mutation in Clouston Syndrome [PDF]

Journal of Investigative Dermatology, 2002
Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant ectodermal dysplasia characterized by alopecia, palmoplantar hyperkeratosis, and nail dystrophy. Recently, mutations in the GJB6 gene encoding the gap junction protein connexin 30 have been shown to cause this disorder.
Irwin McLean, Susan M Morley, Frances J D Smith   +2 more
exaly   +7 more sources

A Phenotype Resembling the Clouston Syndrome with Deafness Is Associated with a Novel Missense GJB2 Mutation [PDF]

Journal of Investigative Dermatology, 2004
Mutations in GJB2 (connexin26) are associated with skin disorders and deafness. The Clouston syndrome (MIM129500) is associated with mutations in GJB6 (connexin30). Here, we describe a patient suffering from a Clouston-syndrome-like phenotype of thin hair, deafness, nail dystrophy, and mild erythrokeratoderma, caused by a novel spontaneous missense ...
Michel van Geel
exaly   +9 more sources

Well-Differentiated Syringofibrocarcinoma in a Patient With Clouston Syndrome [PDF]

JAMA Dermatology, 2016
Leonard Milstone, Marcus Bosenberg
exaly   +4 more sources

Immune system disturbances in Clouston syndrome [PDF]

International Journal of Dermatology, 2015
AbstractBackgroundClouston syndrome belongs to the family of ectodermal dysplasias. So far, a defective immune response has not been reported in Clouston syndrome. We report, for the first time, immunological particularities of a large multigenerational Polish family with Clouston syndrome.MethodsFive members of the same family with Clouston syndrome ...
Aldona Pietrzak, Ewelina Grywalska, Agnieszka Gerkowicz, Dorota Krasowska, Grażyna Chodorowska, Małgorzata M. Michalska-Jakubus, Jacek Roliński, Bartłomiej Wawrzycki, Sebastian Radej, Ewa Dybiec, Jacek Wroński, Agnieszka Sobczyńska‐Tomaszewska, Marcin Rudzki, Smail Hadj-Rabia   +13 more
openalex   +3 more sources

The gene for autosomal dominant hidrotic ectodermal dysplasia (Clouston syndrome) in a large Indian family maps to the 13q11-q12.1 pericentromeric region

American Journal of Medical Genetics, Part A, 1997
Hidrotic ectodermal dysplasia (HED), Clouston syndrome (MIM No. 129500), is an autosomal dominant disorder affecting the skin and its derivatives. It is characterized by alopecia, dysplastic nails in hands and feet, and hyperkeratosis of the palms and ...
Uppala Radhakrishna, J L Blouin
exaly   +5 more sources

GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis. [PDF]

Anim Genet
Abstract Palmoplantar keratoderma in humans is a condition defined by an abnormally thickened cornified skin layer on the hands and feet. In animals, the corresponding disease is commonly termed paw pad hyperkeratosis. It can be acquired due to repeated trauma, infections, cancer, or inflammatory dermatoses, or inherited due to pathogenic variants in ...
Rietmann SJ, Malatos J, Jagannathan V, Leeb T.   +3 more
europepmc   +2 more sources

Myeloid HDAC7 drives liver inflammation and systemic glucose dysregulation during diet-induced obesity. [PDF]

Clin Transl Immunology
This study explored the role of the class IIa histone deacetylase HDAC7 in hepatic inflammation and metabolic disease. Genetic approaches in mice revealed that myeloid HDAC7 drives hepatic inflammation and gene signatures associated with advanced chronic liver disease.
Wang Y, Ramnath D, Das Gupta K, Prakrithi P, Bisht K, Miller GC, Xiong Z, Wan Y, Tejo EN, Curson JE, Abrol R, Keshvari S, Gunther KS, Atkinson JD, Loh Z, Engel JA, Engwerda CR, Burgener SS, Schroder K, Fairlie DP, Clouston AD, Powell EE, Irvine KM, Sullivan MA, Lévesque JP, Nguyen Q, Sweet MJ, Karunakaran D.   +27 more
europepmc   +2 more sources

The Clinical Manifestation of p.Asp50Asn Heterozygous Mutation of GJB2 Gene in 3 Members of a Family Is Similar to That of Clouston Syndrome. [PDF]

Ann Dermatol, 2022
Xu Y, Wang M, Huang L, Hu J.
europepmc   +2 more sources

Oral rehabilitation of a patient with hidrotic ectodermal dysplasia (Clouston syndrome)

Pediatric Traumatology, Orthopaedics and Reconstructive Surgery, 2021
BACKGROUND: Ectodermal dysplasia is a rare genetic condition affecting the development and homeostasis of two or more ectodermal structures, including hairs, teeth, nails, and some glandular organs. The prevalence is 1.621.9 per 100000. The teeth are affected in 79% of cases.
Roman A. Rozov, Vladimir N. Trezubov, A. B. Gerasimov, Leonid M. Emdin   +3 more
openalex   +2 more sources