Results 41 to 50 of about 71,788 (137)

Clouston syndrome with palmoplantar keratoderma

Journal of Indian Academy of Oral Medicine and Radiology, 2011
Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene
M P Singh, Manishi Singh, Manika Singh, Prashant Tripathi   +3 more
doaj   +1 more source

Prosthetic Management of a Child with Hypohidrotic Ectodermal Dysplasia: 6‐Year Follow‐Up

Case Reports in Dentistry, Volume 2016, Issue 1, 2016., 2016
Ectodermal dysplasia (ED) is a genetically heterogeneous condition resulting from clinical anomalies of structures derived from the ectoderm, such as the hair, nails, sweat glands, and teeth. This clinical report presents the case of a child diagnosed with hypohidrotic ED at 2 years of age; clinical and imaging evaluation was performed with 6‐year ...
Antonione Santos Bezerra Pinto, Moara e Silva Conceição Pinto, Cinthya Melo do Val, Leonam Costa Oliveira, Cristhyane Costa de Aquino, Daniel Fernando Pereira Vasconcelos, Asja Celebić   +6 more
wiley   +1 more source

Positive Selection in East Asians for an EDAR Allele that Enhances NF-κB Activation [PDF]

, 2008
Genome-wide scans for positive selection in humans provide a promising approach to establish links between genetic variants and adaptive phenotypes.
Hughes, David, Myles, Sean, Strotmann, Rainer, Stoneking, M. ; https://orcid.org/, Hughes, D., Pugach, Irina, Hardouin, Emilie, Stajich, Jason E., Jarosław Bryk, Pugach, I., Sean Myles, Hughes, D. ; https://orcid.org/, Jarosław Bryk, Mark Stoneking, Stoneking, Mark, Myles, S., Bryk, J., Bryk, Jarosław, Stoneking, M., Bryk, Jarek, Emilie Hardouin, Hughes, David A., Hardouin, E., Pugach, I. ; https://orcid.org/, Rainer Strotmann, Hardouin, E. ; https://orcid.org/, Myles, S. ; https://orcid.org/, Irina Pugach, David Hughes, Hardouin, E.A., Strotmann, R.   +30 more
core   +1 more source

An Insight into the Genesis of Hypohidrotic Ectodermal Dysplasia in a Case Report

Case Reports in Dentistry, Volume 2012, Issue 1, 2012., 2012
Hypohidrotic (anhidrotic) ectodermal dysplasia (HED) is a congenital syndrome characterized by sparse hair, oligodontia, and reduced sweating. It is estimated to affect at least one in 17000 people worldwide. We report a rare case of HED in a 14‐year‐old male child patient which extraorally manifested as alopecia, scanty eyebrow and eye lashes, frontal
Kiran Kumar, Devi Charan Shetty, Mahima Dua, Amit Dua, Raghu Dhanapal, S. Anil, M. A. Polack   +6 more
wiley   +1 more source

Confirmation of Linkage of Clouston Syndrome (Hidrotic Ectodermal Dysplasia) to 13q11-q12.1 with Evidence for Multiple Independent Mutations [PDF]

, 1998
Clouston syndrome (hidrotic ectodermal dysplasia) is an autosomal dominant disorder characterized by the triad of nail dystrophy, alopecia, and palmoplantar hyperkeratosis.
Litt, Mike, McKinnon, Wendy, Guttmacher, Alan E., Hovnanian, Alain, Taylor, Todd D., Hayflick, Susan J., Zonana, Jonathan   +6 more
core   +1 more source

A Rare Case of Hypohidrotic Ectodermal Dysplasia

Journal of Clinical and Biomedical Sciences
A wide range of hereditary diseases affecting two or more ectodermally derived tissues together are referred to as ectodermal dysplasias (EDs). The most frequently impacted ectodermal derivatives are the teeth, nails, sweat glands, and hair.
Hariharasubramanian M, Rajashekar T S, Suresh Kumar K, Hanumanthayya K   +3 more
doaj   +1 more source

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

Brazilian Journal of Medical and Biological Research, 2018
We constructed lentiviral vectors containing the human wild-type GJB6 gene and the mutant variants A88V and G11R. The three proteins were stably expressed by the Tet-on system in the HaCaT cell line and used to study the functional effect of the variants.
Yuting Lu, Ruili Zhang, Zhenying Wang, Shuhua Zhou, Yali Song, Lamei Chen, Nan Chen, Wenmin Liu, Canan Ji, Wangli Wu, Li Zhang   +10 more
doaj   +1 more source

Functional aesthetic treatment of dental anomalies in subjects with ectodermal dysplasia

, 2023
reservedPresupposti dello studio Le displasie ectodermiche sono condizioni genetiche che influenzano lo sviluppo e/o l’omeostasi di due o più derivati ectodermici, inclusi capelli, denti, unghie e alcune ghiandole.
STEFANELLI, SOFIA
core  

Genodermatoses

Journal of Pharmacy and Bioallied Sciences, 2015
Genodermatoses are an inherited disorder, present with multisystem involvement. Help us to identify regular mutations and appalling skin diseases with recessive inheritance.
N Aravindha Babu, E Rajesh, Jayasri Krupaa, G Gnananandar   +3 more
doaj   +1 more source

Early prosthetic rehabilitation of a juvenile patient with hereditary ectodermal dysplasia – a case report [PDF]

, 2015
Ectodermal dysplasia is the term used to describe a large and heterogenic group of congenital disorders. Ectodermal dysplasia affects at least two ectoderm-derived structures.
Hadzik, Jakub, Bruziewicz-Mikłaszewska, Barbara, Wasik, Agnieszka   +2 more
core