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7 Results Found

  • Article
  • Open Access
5 Citations
3,050 Views
16 Pages

Post Zygotic, Somatic, Deletion in KERATIN 1 V1 Domain Generates Structural Alteration of the K1/K10 Dimer, Producing a Monolateral Palmar Epidermolytic Nevus

  • Sabrina Caporali,
  • Biagio Didona,
  • Mauro Paradisi,
  • Alessandro Mauriello,
  • Elena Campione,
  • Mattia Falconi,
  • Federico Iacovelli,
  • Marilena Minieri,
  • Massimo Pieri and
  • Sergio Bernardini
  • + 1 author

Palmoplantar keratodermas (PPKs) are characterized by thickness of stratum corneum and epidermal hyperkeratosis localized in palms and soles. PPKs can be epidermolytic (EPPK) or non epidermolytic (NEPPK). Specific mutations of keratin 16 (K16) and ke...

  • Communication
  • Open Access
3 Citations
2,758 Views
18 Pages

A Ca2+-Mediated Switch of Epiplakin from a Diffuse to Keratin-Bound State Affects Keratin Dynamics

  • Sonia Ratajczyk,
  • Corinne Drexler,
  • Reinhard Windoffer,
  • Rudolf E. Leube and
  • Peter Fuchs

30 September 2022

Keratins exert important structural but also cytoprotective functions. They have to be adaptable to support cellular homeostasis. Epiplakin (EPPK1) has been shown to decorate keratin filaments in epithelial cells and to play a protective role under s...

  • Article
  • Open Access
16 Citations
4,084 Views
15 Pages

A Multi-Trait Association Analysis of Brain Disorders and Platelet Traits Identifies Novel Susceptibility Loci for Major Depression, Alzheimer’s and Parkinson’s Disease

  • Alfonsina Tirozzi,
  • Miriam Shasa Quiccione,
  • Chiara Cerletti,
  • Maria Benedetta Donati,
  • Giovanni de Gaetano,
  • Licia Iacoviello and
  • Alessandro Gialluisi

6 January 2023

Among candidate neurodegenerative/neuropsychiatric risk-predictive biomarkers, platelet count, mean platelet volume and platelet distribution width have been associated with the risk of major depressive disorder (MDD), Alzheimer’s disease (AD)...

  • Article
  • Open Access
1,628 Views
10 Pages

10 December 2024

Genome-wide association study (GWAS) have identified a large number of SNPs associated with milk production traits in dairy cattle. Behind SNPs, INDELs are the second most abundant genetic polymorphisms in the genome, which may exhibit an independent...

  • Article
  • Open Access
5 Citations
3,227 Views
11 Pages

Tumor Microenvironment and Genes Affecting the Prognosis of Temozolomide-Treated Glioblastoma

  • Yena Jang,
  • Wooyong Cheong,
  • Gyurin Park,
  • Yeongmin Kim,
  • Junbeom Ha and
  • Sangzin Ahn

20 January 2023

Glioblastoma (GBM) is the most frequent primary brain tumor in adults and has a poor prognosis due to its resistance to Temozolomide (TMZ). However, there is limited research regarding the tumor microenvironment and genes related to the prognosis of...

  • Article
  • Open Access
3 Citations
1,391 Views
17 Pages

Insights from Tandem Mass Tag (TMT) Proteomic Analysis on Protein Network Modification in Control of Yak Hair Follicle Cycle

  • Shijie Li,
  • Yan Cui,
  • Sijiu Yu,
  • Junfeng He,
  • Rui Ma,
  • Bo Liao,
  • Pengfei Zhao,
  • Pengqiang Wei and
  • Niayaler Robert

12 February 2025

Highland animals have unique hair growth mechanisms to allow them to adapt to harsh living environments. Compared with other species, their hair cycle growth is affected by more environmental factors. Yaks, as highland animals, have obvious periodic...

  • Article
  • Open Access
36 Citations
5,867 Views
11 Pages

Background: The molecular signature of endometrial receptivity still remains barely understood, especially when focused on the possible benefit of therapeutical interventions and implantation-related pathologies. Therefore, the protein composition of...