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  • Article
  • Open Access

Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP

  • Maria Elena Onore,
  • Martina Caiazza,
  • Catia Mio,
  • Gioacchino Scarano,
  • Pasquale Di Letto,
  • Sarah Iffat Rahman,
  • Emanuele Monda,
  • Cristiano Amarelli,
  • Rossella Nicoletta Borrelli and
  • Flavio Faletra
  • + 3 authors

8 December 2025

Background: Cardiomyopathies are a heterogeneous group of heart muscle disorders with diverse genetic origins. Biallelic loss-of-function (LoF) variants in the nebulin-related anchoring protein (NRAP) gene have been linked to dilated cardiomyopathy (...

  • Article
  • Open Access

The Diagnostic Reliability of BIN1 and TOMM40 Genotyping in Assessing Dementia Risk

  • Marta Machowska,
  • Jerzy Leszek,
  • Aleksandra Mikołajczyk-Tarnawa,
  • Krystyna Głowacka,
  • Elżbieta Trypka,
  • Małgorzata Rąpała,
  • Janusz Piechota and
  • Anna Wiela-Hojeńska

8 December 2025

Objectives: Alzheimer’s disease (AD) and other dementias represent a growing public health concern, highlighting the need for reliable biomarkers for early diagnosis and treatment monitoring. This study evaluated the potential utility of BIN1 a...

  • Review
  • Open Access

8 December 2025

Rare neuromuscular disorders impose a significant burden on patients, caregivers, and the health care system, yet, effective disease-modifying therapies remain limited. Antisense oligonucleotides (ASOs) have emerged as a promising therapeutic strateg...

  • Article
  • Open Access

Epigenetic and Transcriptomic Alterations of Protein Aggregation-Linked Genes in Suicide: A Pilot Study

  • Taja Bedene,
  • Julija Šmon,
  • Alja Videtič Paska,
  • Tomaž Zupanc and
  • Katarina Kouter

8 December 2025

Background/Objectives: Suicide is a significant public health concern with a multifactorial etiology. The biological background of suicide is not sufficiently explored, which encumbers suicide prevention. Epigenetic mechanisms may mediate environment...

  • Review
  • Open Access

miRNA as a Prognostic Marker in Small Lung Cell Carcinoma

  • Michał Bednarz,
  • Aleksandra Osińska,
  • Julia Durda,
  • Milena Kędra,
  • Michalina Boruch,
  • Julia Gontarz,
  • Alicja Petniak,
  • Janusz Kocki and
  • Paulina Gil-Kulik

8 December 2025

Small-cell lung carcinoma (SCLC) is one of the most aggressive and therapeutically challenging malignancies. It is characterised by rapid progression, early metastasis and frequent relapse. Despite considerable advances in molecular oncology, effecti...

  • Review
  • Open Access

8 December 2025

Madagascar is one of the world’s most prominent biodiversity hotspots and is characterized by exceptionally high amphibian diversity, with 429 currently described, mostly endemic species. However, cytogenetic research on Malagasy amphibians has...

  • Review
  • Open Access

From Skin to Brain: Key Genetic Mediators Associating Cutaneous Inflammation and Neurodegenerative Diseases

  • Vasiliki-Sofia Grech,
  • Kleomenis Lotsaris,
  • Vassiliki Kefala and
  • Efstathios Rallis

8 December 2025

Chronic inflammatory skin diseases and neurodegenerative disorders share overlapping genetic, immunologic, and metabolic pathways that may predispose individuals to cognitive decline. This review synthesizes current human genomic, transcriptomic, and...

  • Article
  • Open Access

An ETS2 Enhancer Variant May Modulate Gene Expression and Contribute to Defining a Genetic Risk Profile for SLE Susceptibility

  • Andrea Latini,
  • Giada De Benedittis,
  • Chiara Morgante,
  • Carlo Perricone,
  • Fulvia Ceccarelli,
  • Fabrizio Conti,
  • Giuseppe Novelli,
  • Cinzia Ciccacci and
  • Paola Borgiani

8 December 2025

Background/Objectives: Systemic lupus erythematosus (SLE) is a multifactorial autoimmune disease strongly influenced by genetic factors. Genome-wide association studies (GWASs) have identified numerous non-coding susceptibility loci, but their functi...

  • Review
  • Open Access

Autophagy-Mediated Adaptation: Revealing the Role of Autophagy in Plant Responses to Abiotic Stress

  • Zixuan Yu,
  • Abdul Waheed,
  • Daoyuan Zhang,
  • Asigul Ismayil and
  • Yakupjan Haxim

7 December 2025

Autophagy, an evolutionarily conserved intracellular recycling pathway, is essential for maintaining cellular homeostasis and enhancing plant resilience to a variety of abiotic stresses, including drought, salinity, extreme temperatures, and heavy me...

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Genes - ISSN 2073-4425