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18 Results Found

  • Article
  • Open Access
5 Citations
2,897 Views
9 Pages

DIAPH2, PTPRD and HIC1 Gene Polymorphisms and Laryngeal Cancer Risk

  • Mirosław Śnit,
  • Maciej Misiołek,
  • Wojciech Ścierski,
  • Anna Koniewska,
  • Grażyna Stryjewska-Makuch,
  • Sławomir Okła and
  • Władysław Grzeszczak

AIM, DIAPH2, PTPRD and HIC1 are the cell glycoprotein, which play an important role in the occurrence and development of tumors. This study was designed to assess the association between DIAPH2, PTPRD and HIC1 SNPs and laryngeal cancer risk. PATIENTS...

  • Article
  • Open Access
1 Citations
699 Views
17 Pages

The Effect of RAGE-Diaph1 Signaling Inhibition on the Progression of Peripheral Neuropathy in Diabetic Mice

  • Kamila Zglejc-Waszak,
  • Agnieszka Korytko,
  • Bernard Kordas,
  • Andrzej Pomianowski,
  • Bogdan Lewczuk,
  • Joanna Wojtkiewicz,
  • Krzysztof Wąsowicz,
  • Izabella Babińska,
  • Konark Mukherjee and
  • Judyta Karolina Juranek

19 November 2025

Diabetic peripheral neuropathy (DPN) is a serious consequence of prolonged hyperglycemia and contributes to the morbidity associated with diabetes. Hyperglycemia enhances the non-enzymic glycation of proteins and the accumulation of Advanced Glycatio...

  • Communication
  • Open Access
841 Views
12 Pages

RAGE Cytosolic Partner Diaph1 Does Not Play an Essential Role in Diabetic Peripheral Neuropathy Progression

  • Kamila Zglejc-Waszak,
  • Bernard Kordas,
  • Agnieszka Korytko,
  • Andrzej Pomianowski,
  • Bogdan Lewczuk,
  • Joanna Wojtkiewicz,
  • Krzysztof Wąsowicz,
  • Izabella Babińska,
  • Konark Mukherjee and
  • Judyta Juranek

21 October 2025

Receptor for advanced glycation end-products (RAGE) activation by hyperglycemia-induced AGE (advanced glycation end-products) accumulation is likely to play a crucial role in the development of complications such as diabetic peripheral neuropathy (DP...

  • Article
  • Open Access
2 Citations
3,159 Views
17 Pages

Loss of DIAPH3, a Formin Family Protein, Leads to Cytokinetic Failure Only under High Temperature Conditions in Mouse FM3A Cells

  • Hiroki Kazama,
  • Shu-ichiro Kashiwaba,
  • Sayaka Ishii,
  • Keiko Yoshida,
  • Yuta Yatsuo,
  • Takuma Naraoka,
  • Masashi Fukuoka and
  • Yasufumi Murakami

11 November 2020

Cell division is essential for the maintenance of life and involves chromosome segregation and subsequent cytokinesis. The processes are tightly regulated at both the spatial and temporal level by various genes, and failures in this regulation are as...

  • Review
  • Open Access
2 Citations
1,577 Views
17 Pages

Neurodegenerative diseases are a group of disorders characterized by the progressive deterioration of the structure and function of central nervous system neurons and include, among others, amyotrophic lateral sclerosis (ALS), multiple sclerosis (MS)...

  • Review
  • Open Access
23 Citations
5,121 Views
18 Pages

The RAGE/DIAPH1 Signaling Axis & Implications for the Pathogenesis of Diabetic Complications

  • Ravichandran Ramasamy,
  • Alexander Shekhtman and
  • Ann Marie Schmidt

Increasing evidence links the RAGE (receptor for advanced glycation end products)/DIAPH1 (Diaphanous 1) signaling axis to the pathogenesis of diabetic complications. RAGE is a multi-ligand receptor and through these ligand–receptor interactions...

  • Review
  • Open Access
18 Citations
4,159 Views
13 Pages

Role of Cytoskeletal Diaphanous-Related Formins in Hearing Loss

  • Chiara Chiereghin,
  • Michela Robusto,
  • Valentina Massa,
  • Pierangela Castorina,
  • Umberto Ambrosetti,
  • Rosanna Asselta and
  • Giulia Soldà

24 May 2022

Hearing relies on the proper functioning of auditory hair cells and on actin-based cytoskeletal structures. Diaphanous-related formins (DRFs) are evolutionarily conserved cytoskeletal proteins that regulate the nucleation of linear unbranched actin f...

  • Review
  • Open Access
4 Citations
2,153 Views
20 Pages

Role of Receptor for Advanced Glycation End-Products in Endometrial Cancer: A Review

  • Kamila Zglejc-Waszak,
  • Marcin Jozwik,
  • Michael Thoene and
  • Joanna Wojtkiewicz

19 September 2024

Endometrial cancer (EC) is the most common gynecological malignancy. EC is associated with metabolic disorders that may promote non-enzymatic glycation and activate the receptor for advanced glycation end-products (RAGE) signaling pathways. Thus, we...

  • Article
  • Open Access
20 Citations
4,455 Views
16 Pages

Formin-like 1 (FMNL1) Is Associated with Glioblastoma Multiforme Mesenchymal Subtype and Independently Predicts Poor Prognosis

  • Nayuta Higa,
  • Yoshinari Shinsato,
  • Muhammad Kamil,
  • Takuro Hirano,
  • Tomoko Takajo,
  • Michiko Shimokawa,
  • Kentaro Minami,
  • Masatatsu Yamamoto,
  • Kohichi Kawahara and
  • Kazunori Arita
  • + 4 authors

17 December 2019

Glioblastoma multiforme (GBM), the most common primary malignant brain tumor in adults, is characterized by rapid proliferation, aggressive migration, and invasion into normal brain tissue. Formin proteins have been implicated in these processes. How...

  • Feature Paper
  • Review
  • Open Access
45 Citations
9,265 Views
36 Pages

Formins in Human Disease

  • Leticia Labat-de-Hoz and
  • Miguel A. Alonso

27 September 2021

Almost 25 years have passed since a mutation of a formin gene, DIAPH1, was identified as being responsible for a human inherited disorder: a form of sensorineural hearing loss. Since then, our knowledge of the links between formins and disease has de...

  • Article
  • Open Access
11 Citations
4,262 Views
28 Pages

Embedding of HIV Egress within Cortical F-Actin

  • Anupriya Aggarwal,
  • Alberto Ospina Stella,
  • Catherine C. Henry,
  • Kedar Narayan and
  • Stuart G. Turville

F-Actin remodeling is important for the spread of HIV via cell–cell contacts; however, the mechanisms by which HIV corrupts the actin cytoskeleton are poorly understood. Through live cell imaging and focused ion beam scanning electron microscop...

  • Review
  • Open Access
38 Citations
7,479 Views
20 Pages

28 January 2019

The small GTPases of the Rho-family (Rho-family GTPases) have various physiological functions, including cytoskeletal regulation, cell polarity establishment, cell proliferation and motility, transcription, reactive oxygen species (ROS) production, a...

  • Review
  • Open Access
746 Views
16 Pages

The Cytoskeleton in Adrenal Physiology and Tumours: Functional Roles and Emerging Molecular Targets

  • Rosa Catalano,
  • Emma Nozza,
  • Emanuela Esposito,
  • Sonia Di Bari,
  • Giovanna Mantovani and
  • Erika Peverelli

24 October 2025

The cytoskeleton has been described as a regulator of adrenal physiology and tumour behaviour. In the adrenal cortex, both cytoskeletal filaments, by mediating cholesterol transfer to mitochondria, and their binding proteins, such as cofilin and diap...

  • Article
  • Open Access
6 Citations
5,577 Views
17 Pages

8 December 2020

Phenanthriplatin is a new monofunctional platinum(II) complex that binds only one strand of DNA and acts by blocking gene transcription, but its effect on gene regulation has not been characterized relative to the traditional platinum-based complex,...

  • Review
  • Open Access
47 Citations
10,861 Views
28 Pages

Autosomal Dominant Non-Syndromic Hearing Loss (DFNA): A Comprehensive Narrative Review

  • Mirko Aldè,
  • Giovanna Cantarella,
  • Diego Zanetti,
  • Lorenzo Pignataro,
  • Ignazio La Mantia,
  • Luigi Maiolino,
  • Salvatore Ferlito,
  • Paola Di Mauro,
  • Salvatore Cocuzza and
  • Antonino Maniaci
  • + 3 authors

Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one dominant allele within the disease gene is sufficient to express the phenotype. Therefore, most patients diagnosed with autosomal dominant non-syndromic HL have a heari...

  • Case Report
  • Open Access
2,166 Views
10 Pages

Maternal Uniparental Isodisomy of Chromosome 6: A Novel Case of Teratoma and Autism Spectrum Disorder with a Diagnostic and Management Framework

  • Aleksandra Świeca,
  • Maria Franaszczyk,
  • Agnieszka Maryniak,
  • Patryk Lipiński,
  • Rafał Płoski and
  • Krzysztof Szczałuba

5 April 2025

Background: Uniparental disomy (UPD) is the inheritance of both copies of a chromosome from a single parent, leading to distinct genetic conditions. Maternal UPD of chromosome 6 (UPD(6)mat) is extremely rare, with few molecularly confirmed cases repo...

  • Article
  • Open Access
264 Views
17 Pages

Genomic Biomarkers and Mutational Landscape of Nonsyndromic Hearing Loss (NSHL) in the Singaporean Population: Clinical Translational Implications

  • Che Kang Lim,
  • Mei Shuang Cheng,
  • Gerard Low,
  • Joyce Zhi’en Tang,
  • Jia Hui Ng,
  • Ni Gin Ong,
  • Pei Shan Leem,
  • Su Ann Lim,
  • Jiun Fong Thong and
  • Vanessa Yee Jueen Tan

26 February 2026

Nonsyndromic hearing loss (NSHL) is a highly prevalent, genetically heterogeneous condition, yet its molecular basis in the Singaporean population remains underexplored. We performed whole-exome sequencing and integrative bioinformatics analysis in 1...

  • Article
  • Open Access
8 Citations
2,699 Views
18 Pages

6 November 2024

Copy number variation (CNV) serves as a crucial source of genomic variation and significantly aids in the mining of genomic information in cattle. This study aims to analyze re–sequencing data from Chinese Hainan yellow cattle, to uncover breed...