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  • Article
  • Open Access
878 Views
14 Pages

The p.Ile202Thr Substitution in TUBB2B Can Be Associated with Syndromic Presentation of Congenital Fibrosis of the Extraocular Muscles

  • Cecilia Mancini,
  • Luigi Chiriatti,
  • Alessandro Bruselles,
  • Paola D’ambrosio,
  • Andrea Ciolfi,
  • Marco Ferilli,
  • Camilla Cappelletti,
  • Mattia Carvetta,
  • Francesca Clementina Radio and
  • Marco Tartaglia
  • + 8 authors

11 October 2025

Background: Dominantly acting variants in TUBB2B have primarily been associated with cortical dysplasia complex with other brain malformations 7 (CDCBM7), a disorder in which cortical brain abnormalities are typically linked to developmental delay/in...

  • Article
  • Open Access
10 Citations
4,075 Views
14 Pages

Tubulin TUBB4B Is Involved in Spermatogonia Proliferation and Cell Cycle Processes

  • Meiying Feng,
  • Kai Wang,
  • Shuying Fu,
  • Hengxi Wei,
  • Xiaokun Mu,
  • Li Li and
  • Shouquan Zhang

17 June 2022

Tubb4b (tubulin β-4b chain) is essential for cell growth and development as a microtubule network protein. Previous studies have shown that TUBB4B affects mouse pronucleus migration, but the gene function has yet to be elucidated. To study TUBB4...

  • Article
  • Open Access
37 Citations
6,937 Views
13 Pages

Epilepsy in Tubulinopathy: Personal Series and Literature Review

  • Romina Romaniello,
  • Claudio Zucca,
  • Filippo Arrigoni,
  • Paolo Bonanni,
  • Elena Panzeri,
  • Maria T. Bassi and
  • Renato Borgatti

2 July 2019

Mutations in tubulin genes are responsible for a large spectrum of brain malformations secondary to abnormal neuronal migration, organization, differentiation and axon guidance and maintenance. Motor impairment, intellectual disability and epilepsy a...

  • Article
  • Open Access
36 Citations
6,687 Views
16 Pages

TUBB4B Downregulation Is Critical for Increasing Migration of Metastatic Colon Cancer Cells

  • Katarzyna Sobierajska,
  • Wojciech M. Ciszewski,
  • Marta E. Wawro,
  • Katarzyna Wieczorek-Szukała,
  • Joanna Boncela,
  • Izabela Papiewska-Pajak,
  • Jolanta Niewiarowska and
  • M. Anna Kowalska

1 August 2019

Tumor metastasis, the major problem for clinical oncology in colon cancer treatment, is linked with an epithelial-mesenchymal transition (EMT). The observed cellular transformation in this process is manifested by cell elongation, enhanced cell migra...

  • Case Report
  • Open Access
6 Citations
3,465 Views
8 Pages

Tubulinopathy Presenting as Developmental and Epileptic Encephalopathy

  • Kun-Long Hung,
  • Jyh-Feng Lu,
  • Da-Jyun Su,
  • Su-Jin Hsu and
  • Lee-Chin Wang

23 July 2022

Tubulin proteins play a role in the cortical development. Mutations in the tubulin genes affect patients with brain malformations. The present report describes two cases of developmental and epileptic encephalopathy (DEE) due to tubulinopathy. Case 1...

  • Article
  • Open Access
7 Citations
4,860 Views
19 Pages

Calcium Activity Dynamics Correlate with Neuronal Phenotype at a Single Cell Level and in a Threshold-Dependent Manner

  • Sudip Paudel,
  • Eileen Ablondi,
  • Morgan Sehdev,
  • John Marken,
  • Andrew Halleran,
  • Atiqur Rahman,
  • Peter Kemper and
  • Margaret S. Saha

Calcium is a ubiquitous signaling molecule that plays a vital role in many physiological processes. Recent work has shown that calcium activity is especially critical in vertebrate neural development. Here, we investigated if calcium activity and neu...

  • Article
  • Open Access
1,845 Views
17 Pages

Phenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis

  • Sofia Kulyamzin,
  • Rina Leibu,
  • Hadas Newman,
  • Miriam Ehrenberg,
  • Nitza Goldenberg-Cohen,
  • Shiri Zayit-Soudry,
  • Eedy Mezer,
  • Ygal Rotenstreich,
  • Iris Deitch and
  • Tamar Ben-Yosef
  • + 7 authors

26 June 2025

Background: Syndromic inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of disorders, involving the retina and additional organs. Over 80 forms of syndromic IRD have been described. Methods: We aimed to phenotypic...

  • Article
  • Open Access
2,616 Views
15 Pages

Comparison of the Molecular Motility of Tubulin Dimeric Isoforms: Molecular Dynamics Simulations and Diffracted X-ray Tracking Study

  • Tsutomu Yamane,
  • Takahiro Nakayama,
  • Toru Ekimoto,
  • Masao Inoue,
  • Keigo Ikezaki,
  • Hiroshi Sekiguchi,
  • Masahiro Kuramochi,
  • Yasuo Terao,
  • Ken Judai and
  • Yuji C. Sasaki
  • + 2 authors

21 October 2023

Tubulin has been recently reported to form a large family consisting of various gene isoforms; however, the differences in the molecular features of tubulin dimers composed of a combination of these isoforms remain unknown. Therefore, we attempted to...

  • Article
  • Open Access
5 Citations
3,012 Views
22 Pages

A Tale of 12 Tails: Katanin Severing Activity Affected by Carboxy-Terminal Tail Sequences

  • K. Alice Lindsay,
  • Nedine Abdelhamid,
  • Shehani Kahawatte,
  • Ruxandra I. Dima,
  • Dan L. Sackett,
  • Tara M. Finegan and
  • Jennifer L. Ross

30 March 2023

In cells, microtubule location, length, and dynamics are regulated by a host of microtubule-associated proteins and enzymes that read where to bind and act based on the microtubule “tubulin code,” which is predominantly encoded in the tub...

  • Article
  • Open Access
111 Citations
11,107 Views
21 Pages

18 August 2018

Taxanes are a class of chemotherapeutic agents that inhibit cell division by disrupting the mitotic spindle through the stabilization of microtubules. Most breast cancer (BC) tumors show resistance against taxanes partially due to alterations in tubu...

  • Article
  • Open Access
8 Citations
4,822 Views
13 Pages

Optic Nerve Head and Retinal Abnormalities Associated with Congenital Fibrosis of the Extraocular Muscles

  • Mervyn G. Thomas,
  • Gail D. E. Maconachie,
  • Helen J. Kuht,
  • Wai-Man Chan,
  • Viral Sheth,
  • Michael Hisaund,
  • Rebecca J. McLean,
  • Brenda Barry,
  • Bashir Al-Diri and
  • Irene Gottlob
  • + 3 authors

Congenital fibrosis of the extraocular muscles (CFEOM) is a congenital cranial dysinnervation disorder caused by developmental abnormalities affecting cranial nerves/nuclei innervating the extraocular muscles. Autosomal dominant CFEOM arises from het...

  • Article
  • Open Access
7 Citations
2,982 Views
16 Pages

2-Methoxyestradiol as an Antiproliferative Agent for Long-Term Estrogen-Deprived Breast Cancer Cells

  • Masayo Hirao-Suzuki,
  • Koki Kanameda,
  • Masufumi Takiguchi,
  • Narumi Sugihara and
  • Shuso Takeda

9 September 2023

To identify effective treatment modalities for breast cancer with acquired resistance, we first compared the responsiveness of estrogen receptor-positive breast cancer MCF-7 cells and long-term estrogen-deprived (LTED) cells (a cell model of endocrin...

  • Article
  • Open Access
7 Citations
3,021 Views
15 Pages

Predictive and Prognostic Significance of mRNA Expression and DNA Copies Aberrations of ERCC1, RRM1, TOP1, TOP2A, TUBB3, TYMS, and GSTP1 Genes in Patients with Breast Cancer

  • Matvey M. Tsyganov,
  • Marina K. Ibragimova,
  • Evgeniy Yu. Garbukov,
  • Irina A. Tsydenova,
  • Kseniya A. Gaptulbarova,
  • Daria S. Dolgasheva,
  • Ekaterina A. Zdereva,
  • Anastasia A. Frolova,
  • Elena M. Slonimskaya and
  • Nikolai V. Litviakov

Increasingly, many researchers are focusing on the sensitivity in breast tumors (BC) to certain chemotherapy drugs and have personalized their research based on the assessment of this sensitivity. One such personalized approach is to assess the chemo...

  • Article
  • Open Access
5 Citations
5,267 Views
17 Pages

Human Metastatic Melanoma Cell Lines Panel for In Vitro and In Vivo Investigations

  • Ekaterina N. Kosobokova,
  • Nadezhda A. Kalinina,
  • Ksenia M. Konoplina,
  • Anastasiia A. Malchenkova,
  • Alexandra E. Evdokimova,
  • Marina V. Piniugina,
  • Irina I. Khan,
  • Ilya A. Kislyak,
  • Anna A. Basharina and
  • Vyacheslav S. Kosorukov
  • + 6 authors

8 January 2024

The melanoma origin of cell lines obtained from the axillary lymph node (mel Kas, mel Pet, and mel Lap from patients with a verified diagnosis) was confirmed by the detection of the Melan A melanocyte marker expression. A hyperdiploid (2n+) for the m...

  • Article
  • Open Access
8 Citations
2,911 Views
19 Pages

31 August 2022

Cool season grasses often form reciprocal symbiotic relationships with endophytic fungal species in genus Epichloë. In this study, we characterized three fungal endophytes isolated from the grass Hordeum bogdanii native to northwest China. Based...

  • Article
  • Open Access
7 Citations
3,285 Views
19 Pages

15 October 2022

Fungi of genus Epichloë (Ascomycota, Clavicipitaceae) are common endophytic symbionts of Poaceae, including wild and agronomically important cool-season grass species (subfam. Poöideae). Here, we examined the genetic diversity of Epichlo&eu...

  • Article
  • Open Access
14 Citations
4,170 Views
18 Pages

Dynamic Changes of Brain Cilia Transcriptomes across the Human Lifespan

  • Siwei Chen,
  • Wedad Alhassen,
  • Roudabeh Vakil Monfared,
  • Benjamin Vachirakorntong,
  • Surya M. Nauli,
  • Pierre Baldi and
  • Amal Alachkar

27 September 2021

Almost all brain cells contain primary cilia, antennae-like microtubule sensory organelles, on their surface, which play critical roles in brain functions. During neurodevelopmental stages, cilia are essential for brain formation and maturation. In t...

  • Article
  • Open Access
3 Citations
3,248 Views
15 Pages

Cannabichromene Induces Neuronal Differentiation in NSC-34 Cells: Insights from Transcriptomic Analysis

  • Andrea Valeri,
  • Luigi Chiricosta,
  • Simone D’Angiolini,
  • Federica Pollastro,
  • Stefano Salamone and
  • Emanuela Mazzon

9 March 2023

Phytocannabinoids, with their variety of beneficial effects, represent a valid group of substances that could be employed as neurogenesis-enhancers or neuronal differentiation inducers. We focused our attention on the neuronal-related potential of ca...

  • Short Note
  • Open Access
31 Citations
8,659 Views
9 Pages

23 July 2018

Diablo winds are dry and gusty north-northeasterly downslope windstorms that affect the San Francisco Bay Area in Northern California. On the evening of 8 October 2017, Diablo winds contributed to the ignitions and rapid spread of the “Northern Calif...

  • Article
  • Open Access
15 Citations
3,391 Views
20 Pages

Activation of Apoptosis in a βB1-CTGF Transgenic Mouse Model

  • Maximilian Weiss,
  • Sabrina Reinehr,
  • Ana M. Mueller-Buehl,
  • Johanna D. Doerner,
  • Rudolf Fuchshofer,
  • Gesa Stute,
  • H. Burkhard Dick and
  • Stephanie C. Joachim

17 February 2021

To reveal the pathomechanisms of glaucoma, a common cause of blindness, suitable animal models are needed. As previously shown, retinal ganglion cell and optic nerve degeneration occur in βB1-CTGF mice. Here, we aimed to determine possible apoptotic...

  • Article
  • Open Access
3 Citations
3,889 Views
21 Pages

A comprehensive understanding of molecular and biochemical changes during sperm capacitation is critical to the success of assisted reproductive technologies. We reported involvement of the testis-specific isoform of Angiotensin Converting Enzyme (tA...

  • Article
  • Open Access
4 Citations
4,094 Views
13 Pages

Identification of a Steroid Hormone-Associated Gene Signature Predicting the Prognosis of Prostate Cancer through an Integrative Bioinformatics Analysis

  • Yo-Liang Lai,
  • Chia-Hsin Liu,
  • Shu-Chi Wang,
  • Shu-Pin Huang,
  • Yi-Chun Cho,
  • Bo-Ying Bao,
  • Chia-Cheng Su,
  • Hsin-Chih Yeh,
  • Cheng-Hsueh Lee and
  • Wei-Chung Cheng
  • + 4 authors

19 March 2022

The importance of anti-androgen therapy for prostate cancer (PC) has been well recognized. However, the mechanisms underlying prostate cancer resistance to anti-androgens are not completely understood. Therefore, identifying pharmacological targets i...

  • Feature Paper
  • Article
  • Open Access
3 Citations
2,651 Views
15 Pages

Selection of Reference Gene for Expression Studies in the Ovary and Pituitary of Spotted Scat (Scatophagus argus) at Different Ovarian Stages

  • Zhilong Liu,
  • Tuo Wang,
  • Peng Liu,
  • Dongneng Jiang,
  • Xi Liu,
  • Siping Deng,
  • Tianli Wu,
  • Yang Huang,
  • Chunhua Zhu and
  • Mouyan Jiang
  • + 1 author

20 February 2023

The spotted scat (Scatophagus argus) is the most widely commercially cultured fish in eastern and southern Asia that possess potential economic value. However, up to date, there are no studies reported on the selection of suitable reference genes in...

  • Article
  • Open Access
21 Citations
6,916 Views
21 Pages

Integrative Analyses of Genes Associated with Subcutaneous Insulin Resistance

  • Manoj Kumar Pujar,
  • Basavaraj Vastrad and
  • Chanabasayya Vastrad

22 January 2019

Insulin resistance is present in the majority of patients with non-insulin-dependent diabetes mellitus (NIDDM) and obesity. In this study, we aimed to investigate the key genes and potential molecular mechanism in insulin resistance. Expression profi...

  • Article
  • Open Access
17 Citations
4,876 Views
11 Pages

Proteomic Analysis of Porcine-Derived Collagen Membrane and Matrix

  • Jung-Seok Lee,
  • Goran Mitulović,
  • Layla Panahipour and
  • Reinhard Gruber

17 November 2020

Collagen membranes and matrices being widely used in guided bone regeneration and soft tissue augmentation have characteristic properties based on their composition. The respective proteomic signatures have not been identified. Here, we performed a h...

  • Article
  • Open Access
4 Citations
3,650 Views
13 Pages

Identifying Candidate Gene Drivers Associated with Relapse in Pediatric T-Cell Acute Lymphoblastic Leukemia Using a Gene Co-Expression Network Approach

  • Anthony Kypraios,
  • Juba Bennour,
  • Véronique Imbert,
  • Léa David,
  • Julien Calvo,
  • Françoise Pflumio,
  • Raphaël Bonnet,
  • Marie Couralet,
  • Virginie Magnone and
  • Jean-François Peyron
  • + 3 authors

25 April 2024

Pediatric T-cell Acute Lymphoblastic Leukemia (T-ALL) relapses are still associated with a dismal outcome, justifying the search for new therapeutic targets and relapse biomarkers. Using single-cell RNA sequencing (scRNAseq) data from three paired sa...

  • Article
  • Open Access
15 Citations
5,129 Views
14 Pages

Spatial Transcriptome Profiling of Mouse Hippocampal Single Cell Microzone in Parkinson’s Disease

  • Erteng Jia,
  • Yuqi Sheng,
  • Huajuan Shi,
  • Ying Wang,
  • Ying Zhou,
  • Zhiyu Liu,
  • Ting Qi,
  • Min Pan,
  • Yunfei Bai and
  • Qinyu Ge
  • + 1 author

17 January 2023

The hippocampus is an important part of the limbic system in the human brain that has essential roles in spatial navigation and cognitive functions. It is still unknown how gene expression changes in single-cell in different spatial locations of the...

  • Article
  • Open Access
27 Citations
6,248 Views
21 Pages

Bull Sperm Capacitation Is Accompanied by Redox Modifications of Proteins

  • Agnieszka Mostek,
  • Anna Janta,
  • Anna Majewska and
  • Andrzej Ciereszko

The ability to fertilise an egg is acquired by the mammalian sperm during the complex biochemical process called capacitation. Capacitation is accompanied by the production of reactive oxygen species (ROS), but the mechanism of redox regulation durin...

  • Article
  • Open Access
10 Citations
3,911 Views
22 Pages

The knowledge about proteome changes proceeding during protracted opioid withdrawal is lacking. Therefore, the aim of this work was to analyze the spectrum of altered proteins in the rat hippocampus in comparison with the forebrain cortex after 6-mon...

  • Article
  • Open Access
2 Citations
3,761 Views
12 Pages

Screening of Tnfaip1-Interacting Proteins in Zebrafish Embryonic cDNA Libraries Using a Yeast Two-Hybrid System

  • Shulan Huang,
  • Hongning Zhang,
  • Wen Chen,
  • Jiawei Wang,
  • Zhen Wu,
  • Meiqi He,
  • Jian Zhang,
  • Xiang Hu and
  • Shuanglin Xiang

10 October 2023

TNFAIP1 regulates cellular biological functions, including DNA replication, DNA repair, and cell cycle, by binding to target proteins. Identification of Tnfaip1-interacting proteins contributes to the understanding of the molecular regulatory mechani...

  • Article
  • Open Access
11 Citations
2,544 Views
12 Pages

Selection and Validation of Reference Genes for qRT-PCR Gene Expression Analysis in Kengyilia melanthera

  • Junming Zhao,
  • Jian Yang,
  • Xiaoyun Wang,
  • Yanli Xiong,
  • Yi Xiong,
  • Zhixiao Dong,
  • Xiong Lei,
  • Lijun Yan and
  • Xiao Ma

14 August 2022

Kengyilia is a newly established genus. Most species in this genus survive in hash environment, which might be an indicator of an acquirement of stress resistance genes and the potential for molecular breeding in Triticeae species. Quantitative real-...

  • Article
  • Open Access
1,503 Views
16 Pages

Background: The current pharmacological treatments for Immunoglobulin A nephropathy (IgAN) demonstrate limited effectiveness and may cause serious side effects. This study aimed to explore novel potential drug targets for IgAN. Methods: We utilized s...

  • Article
  • Open Access
7 Citations
2,910 Views
16 Pages

9 September 2024

Caviar yield, caviar color, and body weight are crucial economic traits in sturgeon breeding. Understanding the molecular mechanisms behind these traits is essential for their genetic improvement. In this study, we performed whole-genome sequencing o...

  • Article
  • Open Access
4 Citations
1,437 Views
19 Pages

Evaluation and Validation of Reliable Reference Genes for Quantitative Real-Time PCR Analysis of the Gene Expression in Macadamia integrifolia

  • Qian Yang,
  • Ziping Yang,
  • Hui Zeng,
  • Minghong Zou,
  • Ximei Song,
  • Jifeng Wan,
  • Zhao Wang,
  • Jing Chen and
  • Lianfang Luo

7 November 2024

Macadamia is an economically significant crop, with its kernel oil being abundant in monounsaturated fatty acids (MUFA). Analyzing the expression of genes related to MUFA biosynthesis is essential for understanding the complex regulatory networks in...

  • Article
  • Open Access
13 Citations
4,564 Views
23 Pages

Anti-Influenza Activity of the Ribonuclease Binase: Cellular Targets Detected by Quantitative Proteomics

  • Vera Ulyanova,
  • Raihan Shah Mahmud,
  • Alexander Laikov,
  • Elena Dudkina,
  • Maria Markelova,
  • Ahmed Mostafa,
  • Stephan Pleschka and
  • Olga Ilinskaya

5 November 2020

Unpredictable influenza pandemics, annual epidemics, and sporadic poultry-to-human avian influenza virus infections with high morbidity and mortality rates dictate a need to develop new antiviral approaches. Targeting cellular pathways and processes...

  • Article
  • Open Access
5 Citations
4,673 Views
19 Pages

Deregulated Transcription and Proteostasis in Adult mapt Knockout Mouse

  • Pol Andrés-Benito,
  • África Flores,
  • Sara Busquet-Areny,
  • Margarita Carmona,
  • Karina Ausín,
  • Paz Cartas-Cejudo,
  • Mercedes Lachén-Montes,
  • José Antonio Del Rio,
  • Joaquín Fernández-Irigoyen and
  • Isidro Ferrer
  • + 1 author

Transcriptomics and phosphoproteomics were carried out in the cerebral cortex of B6.Cg-Mapttm1(EGFP)Klt (tau knockout: tau-KO) and wild-type (WT) 12 month-old mice to learn about the effects of tau ablation. Compared with WT mice, tau-KO mice display...

  • Article
  • Open Access
11 Citations
3,223 Views
19 Pages

Isoflavones Mediate Dendritogenesis Mainly through Estrogen Receptor α

  • Winda Ariyani,
  • Izuki Amano and
  • Noriyuki Koibuchi

The nuclear estrogen receptor (ER) and G-protein-coupled ER (GPER1) play a crucial role during brain development and are involved in dendrite and spine growth as well as synapse formation. Soybean isoflavones, such as genistein, daidzein, and S-equol...