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11 Results Found

  • Case Report
  • Open Access
12 Citations
8,346 Views
7 Pages

Congenital Hypopigmentary Disorders with Multiorgan Impairment: A Case Report and an Overview on Gray Hair Syndromes

  • Laura Cristina Gironi,
  • Francesca Zottarelli,
  • Gianfranco Savoldi,
  • Lucia Dora Notarangelo,
  • Maria Eleonora Basso,
  • Ivana Ferrero,
  • Fabio Timeus,
  • Franca Fagioli,
  • Luigi Maiuri and
  • Enrico Colombo
  • + 1 author

25 March 2019

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of a...

  • Article
  • Open Access
3 Citations
3,551 Views
18 Pages

Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease

  • Margarita L. Martinez-Fierro,
  • Griselda A. Cabral-Pacheco,
  • Idalia Garza-Veloz,
  • Jesus Acuña-Quiñones,
  • Laura E. Martinez-de-Villarreal,
  • Marisol Ibarra-Ramirez,
  • Joke Beuten,
  • Samantha E. Sanchez-Guerrero,
  • Laura Villarreal-Martinez and
  • Ivan Delgado-Enciso
  • + 4 authors

14 May 2021

Menkes disease (MD) is a rare and often lethal X-linked recessive syndrome, characterized by generalized alterations in copper transport and metabolism, linked to mutations in the ATPase copper transporting α (ATP7A) gene. Our objective was to identi...

  • Article
  • Open Access
3 Citations
4,787 Views
20 Pages

Generating Functional and Highly Proliferative Melanocytes Derived from Human Pluripotent Stem Cells: A Promising Tool for Biotherapeutic Approaches to Treat Skin Pigmentation Disorders

  • Manoubia Saidani,
  • Annabelle Darle,
  • Margot Jarrige,
  • Hélène Polveche,
  • Lina El Kassar,
  • Séverine Julié,
  • Sandrine Bessou-Touya,
  • Nathalie Holic,
  • Gilles Lemaitre and
  • Cécile Martinat
  • + 2 authors

Melanocytes are essential for skin homeostasis and protection, and their loss or misfunction leads to a wide spectrum of diseases. Cell therapy utilizing autologous melanocytes has been used for years as an adjunct treatment for hypopigmentary disord...

  • Review
  • Open Access
163 Citations
21,065 Views
28 Pages

4 August 2017

Melanin, the compound primarily responsible in humans for hair, eye and skin pigmentation, is produced by melanocytes through a complicated process called melanogenesis that is catalyzed by tyrosinase and other tyrosinase-related proteins. The abnorm...

  • Article
  • Open Access
5 Citations
3,224 Views
27 Pages

Effective therapies to treat skin hypopigmentation disorders caused by diminished melanin synthesis or export are limited due to potential side effects. In this work, we explored if cyclocurcumin (CYC), a curcuminoid found in minor amounts in turmeri...

  • Review
  • Open Access
24 Citations
7,213 Views
14 Pages

Shining Light on Autophagy in Skin Pigmentation and Pigmentary Disorders

  • Daniela Kovacs,
  • Giorgia Cardinali,
  • Mauro Picardo and
  • Emanuela Bastonini

26 September 2022

Autophagy is a vital process for cell survival and it preserves homeostasis by recycling or disassembling unnecessary or dysfunctional cellular constituents. Autophagy ameliorates skin integrity, regulating epidermal differentiation and constitutive...

  • Review
  • Open Access
1 Citations
1,891 Views
33 Pages

Lipidome Complexity in Physiological and Pathological Skin Pigmentation

  • Emanuela Bastonini,
  • Daniela Kovacs,
  • Vittoria Maresca,
  • Monica Ottaviani,
  • Anna Di Nardo,
  • Enrica Flori,
  • Giorgia Cardinali and
  • Stefania Briganti

Skin pigmentation results from complex cellular interactions and is influenced by genetic, environmental, and metabolic factors. Emerging evidence highlights the multiple pathways by which lipids regulate melanogenesis and points to lipid metabolism...

  • Case Report
  • Open Access
4 Citations
3,328 Views
10 Pages

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

  • Laura Cristina Gironi,
  • Enrico Colombo,
  • Alfredo Brusco,
  • Enrico Grosso,
  • Valeria Giorgia Naretto,
  • Andrea Guala,
  • Eleonora Di Gregorio,
  • Andrea Zonta,
  • Francesca Zottarelli and
  • Barbara Pasini
  • + 1 author

Congenital sensorineural hearing loss may occur in association with inborn pigmentary defects of the iris, hair, and skin. These conditions, named auditory-pigmentary disorders (APDs), represent extremely heterogeneous hereditary diseases, including...

  • Communication
  • Open Access
12 Citations
4,049 Views
14 Pages

11 March 2021

Benolea® (EFLA®943) is a standardized dry olive leaf extract (DOLE) considered safe for food consumption and has demonstrated superior pharmaceutical benefits such as antioxidant, anti-obesity, and anti-hypertensive activities. However, there is no s...

  • Article
  • Open Access
10 Citations
4,381 Views
13 Pages

12 November 2019

Rhododenol (RD), a whitening cosmetic ingredient, was withdrawn from the market due to RD-induced leukoderma (RIL). While many attempts have been made to clarify the mechanism underlying RIL, RIL has not been fully understood yet. Indeed, affected su...

  • Article
  • Open Access
33 Citations
6,779 Views
11 Pages

RETRACTED: Differential Expression of Nitric Oxide Synthase Isoforms nNOS and iNOS in Patients with Non-Segmental Generalized Vitiligo

  • Mario Vaccaro,
  • Natasha Irrera,
  • Giuseppina Cutroneo,
  • Giuseppina Rizzo,
  • Federico Vaccaro,
  • Giuseppe P. Anastasi,
  • Francesco Borgia,
  • Serafinella P. Cannavò,
  • Domenica Altavilla and
  • Francesco Squadrito

26 November 2017

Nitric oxide (NO) is involved in several biological processes, but its role in human melanogenesis is still not well understood. Exposure to UVA and UVB induces nitric oxide production in keratinocytes and melanocytes through the activation of consti...