Results 31 to 40 of about 596 (152)

Monilethrix: a typical case report with microscopic and dermatoscopic findings [PDF]

open access: yesAnais Brasileiros de Dermatologia, 2015
Monilethrix is a rare hereditary condition generally considered to be an autosomal dominant disorder with variable penetrance. A case of a 6-year-old girl without a familial background for this disease is reported.
Elisa Fontenelle de Oliveira   +1 more
doaj   +2 more sources

De novo filament formation by human hair keratins K85 and K35 follows a filament development pattern distinct from cytokeratin filament networks

open access: yesFEBS Open Bio, Volume 11, Issue 5, Page 1299-1312, May 2021., 2021
We transfected SW‐13 cells with human hair keratin K85 and K35 genes. This pair formed short filaments in the cytoplasm, which gradually elongated, became thicker and entangled around the nucleus, indicating that K85–K35 promotes lateral association of short intermediate filaments into bundles but cannot form filament networks in the cytoplasm. Two K85
Masaki Yamamoto   +6 more
wiley   +1 more source

Co-occurrence of monilethrix and Type 1 diabetes mellitus [PDF]

open access: yesIndian Dermatology Online Journal, 2018
Rita V Vora   +2 more
doaj   +2 more sources

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities*

open access: yesBritish Journal of Dermatology, Volume 184, Issue 4, Page 596-605, April 2021., 2021
Summary The desmosome is a type of intercellular junction found in epithelial cells, cardiomyocytes and other specialized cell types. Composed of a network of transmembranous cadherins and intracellular armadillo, plakin and other proteins, desmosomes contribute to cell–cell adhesion, signalling, development and differentiation.
J.Y.W. Lee, J.A. McGrath
wiley   +1 more source

Evidence for Genetic Heterogeneity in Monilethrix [PDF]

open access: yes, 1996
Monilethrix is a rare inherited defect of the hair shaft resulting in hair fragility and dystrophic alopecia. In contrast to recent reports mapping monilethrix to the type II epithelial and trichocyte keratin gene cluster on 12q13, we strongly excluded ...
Richard, Gabriela   +4 more
core   +1 more source

Automatic segmentation and quantification of hair follicle orientation

open access: yesInformatics in Medicine Unlocked, 2021
Hair follicles cover most of the mammalian body surface, and it has been shown that the orientation of follicles is associated with genetic disorders, such as hypotrichosis simplex or monilethrix.
Saif Hussein
doaj   +1 more source

Moniletherix

open access: yesThe Pan African Medical Journal, 2013
Monilethrix is an autosomal dominant hair shaft disorder characterized by intermittent constrictions result in short and fragile hair. We present here two afghan siblings girl, 5 and 3 years, born of consanguineous marriage, come to our department of ...
Reza Yaghoobi, Amir Feily
doaj   +1 more source

Value of dermoscopy for the diagnosis of monilethrix [PDF]

open access: yes, 2017
Monilethrix is a rare genodermatosis characterized by a hair shaft dysplasia responsible for hypotrichosis. We report the case of a child with monilethrix with no associated cases in the family. Trichoscopy facilitated the diagnosis.
Dhaille, F   +3 more
core   +1 more source

Case Report: 7 Year-Old Saudi Female with Monilethrix

open access: yes, 2022
Monilethrix is a rare genetic hair disorder known as beaded or nodal hair disease as described by Walter Smith in 1897. It is characterized by hypotrichoses of the scalp of all races and both sexes.
Abdullah Aladnan   +2 more
core   +1 more source

Genetic lessons learned from pathogenic variants in KRT1

open access: yes, 2022
Journal of the European Academy of Dermatology and Venereology, Volume 36, Issue 10, Page 1683-1684, October 2022.
Regina C. Betz
wiley   +1 more source

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