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19 Results Found

  • Article
  • Open Access
5 Citations
4,180 Views
12 Pages

FRMD7 Gene Alterations in a Pakistani Family Associated with Congenital Idiopathic Nystagmus

  • Muhammad Waqar Arshad,
  • Muhammad Imran Shabbir,
  • Saaim Asif,
  • Mohsin Shahzad and ,
  • Larissa Leydier and
  • Sunil Kumar Rai
  • + 1 author+ 0 author

29 January 2023

Congenital idiopathic nystagmus (CIN) is an oculomotor disorder characterized by repetitive and rapid involuntary movement of the eye that usually develops in the first six months after birth. Unlike other forms of nystagmus, CIN is widely associated...

(This article belongs to the Special Issue Genetic and Molecular Basis of Inherited Disorders)
  • Article
  • Open Access
6 Citations
4,082 Views
20 Pages

Characterization of the Frmd7 Knock-Out Mice Generated by the EUCOMM/COMP Repository as a Model for Idiopathic Infantile Nystagmus (IIN)

  • Ahmed Salman,
  • Samuel B. Hutton,
  • Tutte Newall,
  • Jennifer A. Scott and ,
  • Helen L. Griffiths,
  • Helena Lee,
  • Diego Gomez-Nicola,
  • Andrew J. Lotery and
  • Jay E. Self
  • + 4 authors+ 0 author

30 September 2020

In this study, we seek to exclude other pathophysiological mechanisms by which Frmd7 knock-down may cause Idiopathic Infantile Nystagmus (IIN) using the Frmd7.tm1a and Frmd7.tm1b murine models. We used a combination of genetic, histological and visua...

(This article belongs to the Special Issue Genomics and Therapeutics of Hereditary Eye Disease)
  • Article
  • Open Access
434 Views
12 Pages

Xq26.2 Contiguous Gene Deletion Involving FRMD7 and IGSF1: Highly Penetrant Infantile Nystagmus with Variable Endocrine Involvement

  • Tomer Poleg,
  • Lior Carmon,
  • Elad Brav,
  • Noam Hadar and ,
  • Vadim Dolgin,
  • Shirly Amar,
  • Ginat Narkis,
  • Ohad S. Birk and
  • Libe Gradstein
  • + 4 authors+ 0 author

17 August 2026

Background/Objectives: Contiguous Xq26.2 deletions involving FRMD7 and IGSF1 are rare and incompletely characterized. FRMD7 loss causes X-linked idiopathic infantile nystagmus (IIN), whereas IGSF1 loss causes central hypothyroidism and other pituitar...

(This article belongs to the Section Human Genomics and Genetic Diseases)
  • Article
  • Open Access
11 Citations
4,972 Views
23 Pages

Analysis of the Role of FRMD5 in the Biology of Papillary Thyroid Carcinoma

  • Agata M. Gaweł,
  • Maciej Ratajczak,
  • Ewa Gajda,
  • Małgorzata Grzanka and ,
  • Agnieszka Paziewska,
  • Marta Cieślicka,
  • Maria Kulecka,
  • Małgorzata Oczko-Wojciechowska and
  • Marlena Godlewska
  • + 4 authors+ 0 author

Background: Thyroid carcinoma (TC) is the most common endocrine system malignancy, and papillary thyroid carcinoma (PTC) accounts for >80% of all TC cases. Nevertheless, PTC pathogenesis is still not fully understood. The aim of the study was to e...

(This article belongs to the Special Issue Thyroid Cell)
  • Article
  • Open Access
7 Citations
3,449 Views
24 Pages

Willin/FRMD6 Mediates Mitochondrial Dysfunction Relevant to Neuronal Aβ Toxicity

  • Doris Chen,
  • Wanjia Yu,
  • Laura Aitken and
  • Frank Gunn-Moore

6 October 2022

Willin/FRMD6 has been reported as a potential Alzheimer’s disease (AD) risk gene in a series of genome-wide association and neuroimaging studies; however, the mechanisms underlying its potential role in AD pathogenesis remain unknown. Here, we...

  • Review
  • Open Access
21 Citations
5,575 Views
22 Pages

4 November 2021

The FERM domain-containing protein 6 (FRMD6), also known as Willin, is an upstream regulator of Hippo signaling that has recently been shown to modulate actin cytoskeleton dynamics and mechanical phenotype of neuronal cells through ERK signaling. Phy...

  • Article
  • Open Access
1 Citations
2,198 Views
17 Pages

Knocking Down FRMD4A, a Factor Associated with the Brain Development Disorder and a Risk Factor for Alzheimer’s Disease, Using RNA-Targeting CRISPR/Cas13 Reveals Its Role in Cell Morphogenesis

  • Asahi Honjo,
  • Hideji Yako,
  • Yuki Miyamoto,
  • Moeri Yagi and ,
  • Masahiro Yamamoto,
  • Akinori Nishi,
  • Hiroyuki Sakagami and
  • Junji Yamauchi
  • + 3 authors+ 0 author

16 October 2025

Genetic truncation or mutation of the gene encoding band 4.1, ezrin, radixin, and moesin (FERM) domain protein containing 4A (FRMD4A) is associated with brain developmental diseases, including microcephaly with global developmental delay. It has also...

(This article belongs to the Section Molecular Pathology, Diagnostics, and Therapeutics)
  • Review
  • Open Access
8 Citations
6,692 Views
13 Pages

Willing to Be Involved in Cancer

  • Frank J. Gunn-Moore,
  • Andrew M. Tilston-Lünel and
  • Paul A. Reynolds

18 July 2016

Genome sequencing is now a common procedure, but prior to this, screening experiments using protein baits was one of the routinely used methods that, occasionally, allowed the identification of new gene products. One such experiment uncovered the gen...

(This article belongs to the Special Issue Hippo Signaling Pathway)
  • Article
  • Open Access
647 Views
17 Pages

CircPRKCA Promotes NSCLC Progression via miR-200b-3p/FRMD6/SNAI2 Axis

  • He Zhong,
  • Ning Wang,
  • Hui Zhang,
  • Min Chen and ,
  • Xin Liao and
  • Chao Huang
  • + 1 author+ 0 author

Circular RNAs (circRNAs) have been reported to be closely associated with tumor progression in multiple malignancies. However, the specific mechanism by which circPRKCA influences tumor progression has not been fully elucidated. CircPRKCA is highly e...

(This article belongs to the Section Molecular Biology)
  • Article
  • Open Access
2,234 Views
17 Pages

Non-Invasive Spectroscopic Determination of the Skin and Blood Carotenoids of Term and Preterm Infants in the First Month of Life and the Influence of Free Radical-Mediated Diseases

  • Hanne Lademann,
  • Maxim E. Darvin,
  • Anna Häfke,
  • Jürgen Lademann and ,
  • Laura Wagner,
  • Jan Däbritz and
  • Dirk M. Olbertz
  • + 2 authors+ 0 author

24 March 2025

Postpartum adaptation causes an increased formation of free radicals (FRs) in the organism, which can lead to development of various FR-mediated diseases (FRMDs) in the newborn. The present study investigates the kinetics of skin and blood carotenoid...

(This article belongs to the Special Issue Current Research on Dermatology: Pathology, Clinical Manifestation, Investigation and Therapy: 2nd Edition)
  • Article
  • Open Access
17 Citations
4,110 Views
14 Pages

24 August 2018

To provide a scientific basis and technical support for agroforestry management practices, such as interrow configuration and soil water and fertilizer management, a stratified excavation method was performed both to explore the fine-root spatial dis...

(This article belongs to the Section Environmental Sustainability and Applications)
  • Article
  • Open Access
279 Views
29 Pages

8 October 2026

Promoting farm household sustainability is a key issue in the agricultural transformation of developing countries. However, whether land reallocation through farmland rent-in ultimately translates into improvements in economic returns, consumption we...

  • Article
  • Open Access
6 Citations
2,813 Views
16 Pages

Identification of Tumor Budding-Associated Genes in Breast Cancer through Transcriptomic Profiling and Network Diffusion Analysis

  • Panisa Janyasupab,
  • Kodchanan Singhanat,
  • Malee Warnnissorn,
  • Peti Thuwajit and ,
  • Apichat Suratanee,
  • Kitiporn Plaimas and
  • Chanitra Thuwajit
  • + 2 authors+ 0 author

24 July 2024

Breast cancer has the highest diagnosis rate among all cancers. Tumor budding (TB) is recognized as a recent prognostic marker. Identifying genes specific to high-TB samples is crucial for hindering tumor progression and metastasis. In this study, we...

  • Article
  • Open Access
2 Citations
2,586 Views
20 Pages

10 August 2024

The aim of this research is to present the role and importance of planning documents for flood defense during the development of the Flood Risk Management Plan (FRMP) in the Republic of Serbia. The scope of the work is the Operational Plans for Flood...

  • Article
  • Open Access
12 Citations
3,308 Views
14 Pages

Delving into the Role of lncRNAs in Papillary Thyroid Cancer: Upregulation of LINC00887 Promotes Cell Proliferation, Growth and Invasion

  • Cristina Tous,
  • Carmen Muñoz-Redondo,
  • Angela Gavilán,
  • Nereida Bravo-Gil and ,
  • Fátima Baco-Antón,
  • Elena Navarro-González,
  • Guillermo Antiñolo and
  • Salud Borrego
  • + 3 authors+ 0 author

27 January 2024

Papillary thyroid carcinoma (PTC) is the most common histological category of thyroid cancer. In recent years, there has been an increasing number of studies on lncRNAs in PTC. Long intergenic non-protein coding RNA 887 (LINC00887) is a critical onco...

(This article belongs to the Special Issue Molecular Biology of the Thyroid Cancer and Thyroid Dysfunctions)
  • Case Report
  • Open Access
6 Citations
3,214 Views
9 Pages

Identifying the Carcinogenic Mechanism of Malignant Struma Ovarii Using Whole-Exome Sequencing and DNA Methylation Analysis

  • Hitomi Yamashita,
  • Kentaro Nakayama,
  • Kosuke Kanno,
  • Tomoka Ishibashi and ,
  • Masako Ishikawa,
  • Seiya Sato,
  • Koji Iida,
  • Sultana Razia and
  • Satoru Kyo
  • + 4 authors+ 0 author

23 February 2023

Background: Since malignant struma ovarii is a very rare disease, its carcinogenic mechanism has not been elucidated. Here, we sought to identify the genetic lesions that may have led to the carcinogenesis of a rare case of malignant struma ovarii (f...

(This article belongs to the Special Issue Next-Generation Sequencing (NGS) Technique and Personalized Medicine)
  • Feature Paper
  • Article
  • Open Access
3 Citations
1,506 Views
17 Pages

Study of the Association Between SNPs and External Pelvimetry Measurements in Romanian Simmental Cattle

  • Ioana-Irina Spătaru,
  • Alexandru Eugeniu Mizeranschi,
  • Daniela Elena Ilie,
  • Iuliu Torda and ,
  • Daniel George Bratu,
  • Bianca Cornelia Lungu,
  • Ioan Huțu and
  • Călin Mircu
  • + 3 authors+ 0 author

29 May 2025

The evaluation of external pelvimetry measurements and the genetic factors influencing them is essential for improving morphological characteristics and reproductive performance in cattle. This study represents the first comprehensive analysis of the...

(This article belongs to the Section Cattle)
  • Article
  • Open Access
6 Citations
4,939 Views
20 Pages

A Potential Prognostic Gene Signature Associated with p53-Dependent NTRK1 Activation and Increased Survival of Neuroblastoma Patients

  • David Currie,
  • Nicole Wong,
  • Isabelle Zane,
  • Tom Rix and ,
  • Marios Vardakastanis,
  • Amelia Claxton,
  • Karine K. V. Ong,
  • William Macmorland,
  • Arthur Poivet and
  • Ximena Montano
  • + 8 authors+ 3 authors

8 February 2024

Neuroblastoma is the most common extracranial solid tumour in children, comprising close to 10% of childhood cancer-related deaths. We have demonstrated that activation of NTRK1 by TP53 repression of PTPN6 expression is significantly associated with...

(This article belongs to the Section Molecular Cancer Biology)
  • Article
  • Open Access
1,121 Views
19 Pages

A Cytokine-Related Gene Signature for Pan-Cancer Prognostic Stratification and Malignant Phenotype Characterization

  • Shih-Chieh Chen,
  • Kai-Fu Chang,
  • Chien-Cheng Chao,
  • Chung-Hsien Lin and ,
  • Chih-Hsuan Chang,
  • Ching-Chung Ko,
  • Hui-Ru Lin,
  • Chi-Jen Wu,
  • Chien-Han Yuan and
  • Hui-Pu Liu
  • + 13 authors+ 8 authors

Cytokines are central regulators of inflammation and immune responses within the tumor microenvironment and have been implicated in cancer progression and prognosis. However, the prognostic value of coordinated cytokine-related transcriptional progra...

(This article belongs to the Special Issue Molecular Informatics and AI in Cancer Research)