Hasil untuk "Biochemistry"

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DOAJ Open Access 2025
Alteration of bacterial community composition with respiratory infection and linkage of taxa with bacterial pathogens in Saudi Arabia from the Arabian Peninsula

Tagreed Al-Subhi, Muhammad Yasir, Samar A. Badreddine et al.

Background: The microbiome of the respiratory system functions as a gatekeeper of respiratory health and is influenced by respiratory diseases. The aim of this study was to identify changes in the respiratory bacterial community composition associated with respiratory infections and to explore their relationship with specific bacterial pathogens in the Saudi Arabian population. Methods: Nasopharyngeal samples were screened from 73 individuals, including 34 symptomatic respiratory tract infection patients, 10 asymptomatic participants, and 29 healthy controls. Respiratory pathogens were detected using real-time PCR, and the microbiota were characterized through 16S rRNA gene amplicon sequencing. Results: Alpha diversity analysis revealed a slight decrease in bacterial richness in patients and asymptomatic individuals compared to healthy controls. In beta diversity analysis, healthy controls clustered together, while most symptomatic patients clustered separately. Actinobacteria, known for maintaining microbial homeostasis and preventing pathogenic colonization, were abundant in asymptomatic and healthy controls (> 30 %) but were substantially reduced to < 20 % relative abundance in symptomatic patients. Several bacterial genera, including Abiotrophia, Capnocytophaga, Megasphaera, Campylobacter, Peptostreptococcus, Veillonella, Streptococcus, and Bulleidia, were positively correlated with respiratory infections. Corynebacterium, Dolosigranulum, and Lawsonella were more abundantly found in healthy and asymptomatic individuals. Patients harboring Streptococcus pneumoniae or methicillin-resistant Staphylococcus aureus (MRSA) exhibited distinct bacterial profiles. Genera such as Staphylococcus, Pseudomonas, and Peptoniphilus were correlated with MRSA infection, while samples positive for S. pneumoniae exhibited a relatively higher abundance of Neisseria and Prevotella. Notably, a substantial number of symptomatic patients tested negative for any of the screened pathogens by real-time PCR but still showed alterations in bacterial community composition. Conclusions: Specific bacterial taxa showed significant differences between healthy controls and symptomatically infected patients, suggesting that bacterial community structures and groups of taxa, rather than individual bacterial taxa, may play a role in regulating respiratory infections.

Infectious and parasitic diseases, Public aspects of medicine
DOAJ Open Access 2025
IL-6, TNF-α, IL-1β, and IFN-γ Cytokines as Core Inflammatory Biomarkers: Biological Roles, Diagnostic Utility, and Clinical Applications

Ahmed Yameny

Cytokines are pivotal mediators of intercellular communication in immunity and inflammation, exerting their effects through tightly regulated signaling cascades that shape both innate and adaptive responses. Among them, interleukin-1β (IL-1β), interleukin-6 (IL-6), tumor necrosis factor-alpha (TNF-α), and interferon-gamma (IFN-γ) represent key biomarkers that orchestrate distinct yet interconnected phases of the inflammatory process. This review synthesizes current evidence on the molecular mechanisms, functional roles, and clinical significance of these four cytokines. IL-1β and TNF-α act as early pro-inflammatory mediators, initiating vascular activation, leukocyte recruitment, and febrile responses. IL-6 sustains acute-phase reactions and bridges innate and adaptive immunity, while IFN-γ enhances antimicrobial defenses and antigen presentation, shaping T-cell polarization. Advances in detection methods—including ELISA, multiplex immunoassays, high-sensitivity biosensors, and IFN-γ release assays—have enabled precise quantification, improving diagnostic accuracy, disease monitoring, and therapeutic decision-making across a broad spectrum of autoimmune, infectious, cardiovascular, and neoplastic disorders. Clinically, elevated cytokine levels serve as diagnostic discriminators, prognostic markers, and guides for targeted therapies such as anti-TNF and anti-IL-6 biologics. Conclusion: IL-1β, IL-6, TNF-α, and IFN-γ emerge as indispensable biomarkers whose measurement provides critical insights into disease pathogenesis and underpins the advancement of personalized medicine in inflammatory conditions.

Biochemistry, Microbiology
DOAJ Open Access 2025
Reprograming of the ubiquitin ligase Ubr1 by intrinsically disordered Roq1 through cooperating multifunctional motifs

Niklas Peters, Sibylle Kanngießer, Oliver Pajonk et al.

Abstract One way cells control the speed and specificity of protein degradation is by regulating the activity of ubiquitin ligases. Upon proteotoxic stress in yeast, the intrinsically disordered protein Roq1 binds the ubiquitin ligase Ubr1 as a pseudosubstrate, thereby modulating the degradation of substrates of the N-degron pathway and promoting the elimination of misfolded proteins. The mechanism underlying this reprograming of Ubr1 is unknown. Here, we show that Roq1 controls Ubr1 by means of two cooperating multifunctional motifs. The N-terminal arginine and a short hydrophobic motif of Roq1 interact with Ubr1 as part of a heterobivalent binding mechanism. Via its N-terminal arginine, Roq1 regulates the ubiquitination of various N-degron substrates and folded proteins. Via its hydrophobic motif, Roq1 accelerates the ubiquitination of misfolded proteins. These findings reveal how a small, intrinsically disordered protein with a simple architecture engages parallel channels of communication to reprogram a functionally complex ubiquitin ligase.

Biology (General), Microbiology
DOAJ Open Access 2025
Plant-based proteins for infant formula: findings and recommendations from the ILSI Europe workshop

Kasper A. Hettinga, Chris H. P. van den Akker, Nils Billecke et al.

This Review Article summarizes outcomes from the ILSI Europe expert workshop on plant-based proteins in infant formula, held in November 2024. Experts from academia, clinical nutrition, and food science evaluated the current use and future potential of plant-based protein sources in infant formula, considering nutritional adequacy, allergenicity, sustainability, processing technologies, and regulatory constraints. While soy and hydrolyzed rice proteins are already approved and in use, emerging sources such as pea, lentil, and faba beans show promise but require further validation of their amino acid profiles, digestibility, safety, and suitability for infants. Key research priorities identified include the development of improved protein extraction methods, in vitro digestion and allergy modeling, and targeted clinical studies. This review synthesizes current evidence and expert perspectives to support the development of sustainable, nutritionally adequate plant-based infant formulas.

Nutrition. Foods and food supply
DOAJ Open Access 2025
COLLAGEN MATRIX WITH INCREASED HEMOSTATIC PROPERTIES: COMPARATIVE ANALYSIS OF HEMOSTATIC EFFICACY

K.B. Baidakova, Y.P. Kucheryavyi, D.S. Korolova

Aim. To develop collagen matrices with increased hemostatic properties and to evaluate their effectiveness in comparison with commercial products. Methods. Collagen was obtained from calfskin by acid hydrolysis, identified by SDS-PAGE, and sterilized in an autoclave. The enzymatic clotting activator was purified from Echis multisquamatis venom by ion exchange chromatography. The activity of the activator was evaluated with the chromogenic substrate S2302. Ready-made modified matrices were obtained by lyophilization. Hemostatic efficacy was tested in the Wistar Han rat hepatic hemorrhage model, compared with commercial materials. Results. Optimal concentrations of collagen (300 μg/cm²) and enzyme activator (10 μg/cm²) were selected for the manufacture of collagen matrices with increased hemostatic properties. Studies on the rat parenchymal bleeding model showed that these matrices provide faster bleeding control compared to commercial hemostatic materials. After the removal of collagen matrices, bleeding did not resume. Conclusions. The developed collagen matrices with increased hemostatic properties demonstrate high efficiency, stable clot formation, and minimal risk of rebleeding, which confirms their prospects in surgery.

DOAJ Open Access 2023
Technology as a Key Driver in Enhancing Scientific Education during the Covid-19 Era at the University of Namibia

Lukas Matati Josua, Saara Kanyemba

Abstract: Student profiling on the use of technology for teaching, learning and assessment has a potential to enable educators to enhance their transformational teaching strategies.  Therefore, this study explored the views of students on use of technology to facilitate online learning during COVID-19. The study employed a quantitative approach to collect data using a Google Form questionnaire. Nineteen conveniently sampled respondents (38%) were drawn from a population of 50 students registered for first year BSc Microbiology and BSc Environmental Biology in 2021. The collected data was analyzed through descriptive statistics using Microsoft Excel 2010. The findings revealed that during online learning students experienced challenges related to subject knowledge acquisition (63%). Hence; majority (84%) of the students preferred face-to-face or blended teaching learning and assessment to ensure pedagogic access.  It is concluded that students’ exposure to online learning helped improve skills such as typing (79%), internet information searching (95%) and general computer skills (89%). Thus, it is recommended that academics and student should be capacitated with training, and higher education curricula should encourage the use of digital technology, which prepares students to be relevant in the digital society.

Theory and practice of education
DOAJ Open Access 2023
Generative adversarial networks applied to gene expression analysis: An interdisciplinary perspective

Xusheng Ai, Melissa C Smith, Frank Alex Feltus

Abstract The remarkable flexibility and adaptability of generative adversarial networks (GANs) have led to the proliferation of its models in bioinformatics research. Proteomic and transcriptomic profiles have been shown to be promising methods for discovering and identifying disease biomarkers. However, those analyses were performed by trained human examiners making the process tedious, time consuming, and hard to standardize. With the development of GANs, it is now possible to reduce computational costs and human time for bioinformatics analysis to produce effective biomarkers. Moreover, GANs help address the lack of phenotypic state transitional gene expression data as well as avoid protected human data constraints by generating RNA sequencing (RNA‐seq) data from random vectors. The purpose of this review is to summarize the use of GAN approaches and techniques to augment RNA‐seq expression data and identify clinically useful biomarkers. We compare different studies that use different types of GAN models to examine the biomarkers. Also, we identify research gaps and challenges that apply GANs to bio‐informatics. Finally, we propose potential directions for future research.

Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Computer applications to medicine. Medical informatics
DOAJ Open Access 2021
Synthesis and applications of fungal mycelium-based advanced functional materials

Sehrish Manan, Muhammad Wajid Ullah, Mazhar Ul-Islam et al.

Over the last couple of decades, the introduction of living systems to material science for the synthesis of functional materials from biological resources is receiving immense consideration. This is also in accordance with the need for green and sustainable development of new materials. For example, the growing concerns of the degradation of synthetic plastics are shifting the direction of materials-related research to the use of polymeric materials acquired from renewable resources. For example, the fungal mycelium-based materials are produced by growing the vegetative part of mushroom-forming fungi on different organic substrates. Such fungi are known for their ability to degrade agricultural wastes such as straws and sawdust. The mycelium-based composites having tailored structural, physical, chemical, mechanical, and biological properties are relying on the strain, feeding substrate, and the manufacturing process. The mycelium cell wall mainly contains the chitin, glucans, proteins, and lipids, whose concentrations depend upon the feeding substrate that ultimately defines the final properties of the synthesized materials. The mycelium-based functional materials with tunable properties are synthesized by selecting the desired components and the synthesis method. The pure and composites of stiff, elastic, porous, less dense, fast-growing, and low-cost mycelium-derived materials with efficient antimicrobial, antioxidant, and skin whitening properties pave their way in various applications such as construction, packaging, medicine, and cosmetics. This review describes the synthesis and structural organization of mycelium-based materials. It further discusses the effect of different factors on the material properties. Finally, it summarizes different applications of mycelium-based materials in medicine, cosmetics, packaging, and construction fields.

DOAJ Open Access 2021
Transcriptomic Analyses of the Adenoma-Carcinoma Sequence Identify Hallmarks Associated With the Onset of Colorectal Cancer

Qin Hong, Bing Li, Xiumei Cai et al.

The concept of the adenoma-carcinoma sequence in colorectal cancer (CRC) is widely accepted. However, the relationship between the characteristics of the transcriptome and the adenoma-carcinoma sequence in CRC remains unclear. Here, the transcriptome profiles of 15 tissue samples from five CRC patients were generated by RNAseq. Six specific dynamic expression patterns of differentially expressed genes (DEGs) were generated by mFuzz. Weighted correlation network analysis showed that DEGs in cluster 4 were associated with carcinoma tissues, and those in cluster 6 were associated with non-normal tissues. Gene Ontology and Kyoto Encyclopedia of Genes and Genomes analyses identified metabolic dysregulation as a consistent finding throughout the transition process, whereas downregulation of the immune response occurred during normal to adenoma transition, and the upregulation of canonical pathways was associated with adenoma to carcinoma transition. Overall survival analysis of patients in cluster 6 identified TPD52L1 as a marker of poor prognosis, and cell proliferation, colony formation, wound healing, and Transwell invasion assays showed that high expression levels of TPD52L1 promoted malignant behaviors. In total, 70 proteins were identified as potential partners of hD53 by mass spectrometry. CRC formation was associated with three cancer hallmarks: dysregulation of metabolism, inactivation of the immune response, and activation of canonical cancer pathways. The TPD52L1 gene was identified as a potential marker to track tumor formation in CRC and as an indicator of poor patient prognosis.

Neoplasms. Tumors. Oncology. Including cancer and carcinogens
DOAJ Open Access 2021
In Chronic Spontaneous Urticaria, Comorbid Depression Linked to Higher Disease Activity, and Substance P Levels

Bachar Memet, Eren Vurgun, Fatma Barlas et al.

Background: Patients with chronic spontaneous urticaria often exhibit psychiatric comorbidities including depression that contribute to the impairment of their quality of life. How CSU and depression are linked isn't well-understood. Substance P has been shown to be increased in patients with CSU and is held to contribute to the pathogenesis of depression.Methods: We measured disease activity in 30 CSU patients without depression and 30 CSU patients with depression by using the urticaria activity score. The severity of depression was assessed with the Beck Depression Inventory. We measured SP levels in these patients as well as in 30 healthy control subjects. In patients with comorbid depression, we correlated SP levels with CSU disease activity and the severity of depression.Results: In CSU patients, disease activity and the severity of depression were positively linked. UAS7 values were higher in CSU patients with comorbid depression as compared to those without (p &lt; 0.05). SP levels were higher in CSU patients with depression than in those without (p &lt; 0.001), but was similar in all CSU patients compared to healthy controls. SP levels weren't correlated with UAS7 values in CSU patients with depression, whereas they were weakly but significantly correlated with BDI scores (p &lt; 0.05).Conclusion: Our results suggest that, in CSU patients with comorbid depression, CSU disease activity affects the severity of depression. CSU patients with high disease activity should be explored for comorbid depression.

DOAJ Open Access 2020
Real-time PCR data for reference candidate gene selection in tomato infected with Tomato curly stunt virus

Mamokete Bokhale, Imanu Mwaba, Farhahna Allie

Real-time PCR (qPCR) is a useful and robust method of quantifying gene expression, provided that suitable reference genes are used to normalize the data. To date, suitable reference genes have not been validated for tomato gene expression changes in response to Tomato curly stunt virus (ToCSV). RT-qPCR was conducted on resistent (R) and susceptible (S) tomato leave tissue infected with ToCSV at 35 days post infection. Ten candidate reference genes were selected and validated using SYBR green. Here, we report a set of primers designed for the ten candidate genes and the data for the melt curve analysis and standard curves generated for each candidate reference gene. This data provides a useful resourse in reference gene selection for future use in the normalization of qPCR data investigating tomato-virus interactions. To our knowledge, this data provides the first selection and testing of candidate reference genes in a tomato-ToCSV pathosystem.

Computer applications to medicine. Medical informatics, Science (General)
DOAJ Open Access 2019
The relationship of mitochondrial dysfunction and the development of insulin resistance in Cushing&rsquo;s syndrome

Ježková J, Ďurovcová V, Wenchich L et al.

Jana Ježkov&aacute;,1 Vikt&oacute;ria Ďurovcov&aacute;,1 Laszlo Wenchich,2,3 Hana Hans&iacute;kov&aacute;,3 Jiř&iacute; Zeman,3 V&aacute;clav H&aacute;na,1 Josef Marek,1 Zdeňka Lacinov&aacute;,4,5 Martin Haluz&iacute;k,4,5 Michal Kr&scaron;ek11Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic; 2Institute of Rheumatology, Prague, Czech Republic; 3Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic; 4Institute of Medical Biochemistry and Laboratory Diagnostic, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic; 5Centre for Experimental Medicine, Institute for Clinical and Experimental Medicine, Prague, Czech RepublicCorrespondence: Jana Ježkov&aacute;Third Department of Medicine, First Faculty of Medicine, Charles University and General University Hospital, U Nemocnice 1128 02 Praha 2, Prague, Czech RepublicTel +420 60 641 2613Fax +420 22 491 9780Email fjjezek@cmail.czPurpose: Cushing&rsquo;s syndrome is characterized by metabolic disturbances including insulin resistance. Mitochondrial dysfunction is one pathogenic factor in the development of insulin resistance in patients with obesity. We explored whether mitochondrial dysfunction correlates with insulin resistance and other metabolic complications.Patients and methods: We investigated the changes of mRNA expression of genes encoding selected subunits of oxidative phosphorylation system (OXPHOS), pyruvate dehydrogenase (PDH) and citrate synthase (CS) in subcutaneous adipose tissue (SCAT) and peripheral monocytes (PM) and mitochondrial enzyme activity in platelets of 24 patients with active Cushing&rsquo;s syndrome and in 9 of them after successful treatment and 22 healthy control subjects.Results: Patients with active Cushing&rsquo;s syndrome had significantly increased body mass index (BMI), homeostasis model assessment of insulin resistance (HOMA-IR) and serum lipids relative to the control group. The expression of all investigated genes for selected mitochondrial proteins was decreased in SCAT in patients with active Cushing&rsquo;s syndrome and remained decreased after successful treatment. The expression of most tested genes in SCAT correlated inversely with BMI and HOMA-IR. The expression of genes encoding selected OXPHOS subunits and CS was increased in PM in patients with active Cushing&rsquo;s syndrome with a tendency to decrease toward normal levels after cure. Patients with active Cushing&rsquo;s syndrome showed increased enzyme activity of complex I (NQR) in platelets.Conclusion: Mitochondrial function in SCAT in patients with Cushing&rsquo;s syndrome is impaired and only slightly affected by its treatment which may reflect ongoing metabolic disturbances even after successful treatment of Cushing&rsquo;s syndrome.Keywords: Cushing&rsquo;s syndrome, insulin resistance, mitochondrial enzyme activity, gene expression

Specialties of internal medicine
DOAJ Open Access 2019
Colonización de sustratos artificiales y naturales por hongos acuáticos zoospóricos

Agostina Virginia Marano, Mónica Mirta Steciow

We study the in situ colonization of different kinds of substrata by zoosporic fungi (S.D Mastigomycotina), making weekly samplings during a month in the streams «El Zanjón» and «Las Cañas» (Ensenada, Bs. As., Argentina). In those sites we put twelve different substrata, both naturals (monocotyledon leaves, crustacean shells, Rosa sp. fruits, snake sheds and little fishes) and artificial ones (cellophane fragments, polypropylene bags, slides, and two kinds of different plastic materials). The substrata were put separately in drilled plastic bags, and left for a week to allow colonization. In both sites, we observed that Saprolegnia colonized every kind of substratum (both natural and artificial ones), while Achlya was encountered in the majority of them (little fishes, slides, cellophane fragments, pieces of X-rays, Rosa sp. fruits, and monocotyledon leaves), Dichtyuchus was observed in fishes and Rosa sp. fruits, Brevilegnia and Pythium in pieces of X-rays plate and Aphanomyces only in plastic materials. Based on these preliminary results, we can infer that there is an apparent selection of some genera for particular substrata. It’s interesting to emphasize that colonization of artificial substrata by Saprolegnia, Achlya, Brevilegnia, Pythium and Aphanomyces, might suggest the possibility of using these genera in superficial biodegradation of plastic materials.

Aquaculture. Fisheries. Angling, Biology (General)
DOAJ Open Access 2019
Role of Gamma Glutamyl Transferase in the Diagnosis of Metabolic Syndrome in Patients with Hypothyroidism

ME Sumathi, K Prabhavathi, S Harish Kumar et al.

Introduction: Hypothyroidism is the most prevalent thyroid disorder in India that affects one in ten adults. Gamma Glutamyl Transferase (GGT) is an ectopic enzyme associated with oxidative stress in various diseased conditions. Prior research suggests that increased levels of GGT are associated with Metabolic Syndrome (MetS) in hypothyroidism. Aim: To study the prevalence of MetS in patients with hypothyroidism and to correlate serum GGT levels with the components of MetS. Materials and Methods: The case-control study was conducted on 62 clinically diagnosed hypothyroidism patients (cases) and 63 clinically proven healthy subjects (controls). All these subjects were screened for metabolic syndrome based on the NCEP ATP ΙΙΙ (National Cholesterol Education Programme Adult Treatment Panel III) guidelines. Waist circumference, blood pressure, serum Fasting Blood Sugar (FBS), Urea, Creatinine, T3, T4, Thyroid Stimulating Hormone (TSH), Total Cholesterol (TC), Triglycerides (TG), High Density Lipoprotein Cholesterol (HDL-C), Low Density Lipoprotein Cholesterol (LDL-C) and GGT were measured. Data was expressed as mean±SD and analysed using Independent Student t-test. The p-value <0.05 was considered as statistically significant. Results: Waist circumference, Systolic Blood Pressure (SBP), Diastolic Blood Pressure (DBP), FBS, TC, Triglycerides TG, LDL-C, GGT and TSH were significantly increased in hypothyroid cases when compared to the controls. HDL-C was significantly decreased in hypothyroid cases. Significant positive correlation was observed between GGT and TSH (r=0.57, p=0.004) in hypothyroid cases with MetS. Significant inverse correlation was observed between GGT and HDL-C (r=-0.25, p=0.04) in hypothyroid cases. Conclusion: In this study, 38% of hypothyroid patients had MetS. Serum GGT is found to be elevated in hypothyroid cases and associated with components of MetS. Hence GGT can be used as an additional diagnostic marker to assess the MetS in hypothyroidism.

DOAJ Open Access 2019
Relevamiento sociodemográfico del aprovechamiento de la fauna íctica en la cuenca inferior del río Luján

Paula Courtalón, Gabriela Gerardo, Liliana Ciotek

El objetivo general del presente trabajo fue identificar las especies de peces que capturan los pescadores y el uso que le dan a las mismas en la cuenca inferior del río Luján. Para tal fin, se realizaron entrevistas semiestructuradas durante la primavera de 2015, el verano y el otoño 2016, las cuales permitieron obtener información sobre el uso que les dan los pescadores a los peces capturados. Se analizaron a lo largo de este período dos escenarios: los días de semana y los fines de semana. En la cuenca inferior del río Luján coexiste una diversidad de contextos sociales manifestados a través de sus actores: los pobladores locales y los pobladores de partidos vecinos que visitan el área. Las especies más mencionadas a lo largo de todo el estudio fueron: Pimelodus maculatus, Pimelodus albicans, Astyanax sp., Megaleporinus obtusidens y Rhamdia quelen. Los resultados obtenidos permiten plantear la importancia que tiene este territorio en la ribera del río Luján para los pobladores de la zona y de las regiones cercanas dado que los días de semana es un sitio que ofrece un espacio para realizar pesca de subsistencia mientras que los fines de semana constituye un espacio para el esparcimiento familiar.

Aquaculture. Fisheries. Angling, Biology (General)
DOAJ Open Access 2018
Analysis of the expression pattern of the schizophrenia-risk and intellectual disability gene TCF4 in the developing and adult brain suggests a role in development and plasticity of cortical and hippocampal neurons

Matthias Jung, Benjamin M. Häberle, Tristan Tschaikowsky et al.

Abstract Background Haploinsufficiency of the class I bHLH transcription factor TCF4 causes Pitt-Hopkins syndrome (PTHS), a severe neurodevelopmental disorder, while common variants in the TCF4 gene have been identified as susceptibility factors for schizophrenia. It remains largely unknown, which brain regions are dependent on TCF4 for their development and function. Methods We systematically analyzed the expression pattern of TCF4 in the developing and adult mouse brain. We used immunofluorescent staining to identify candidate regions whose development and function depend on TCF4. In addition, we determined TCF4 expression in the developing rhesus monkey brain and in the developing and adult human brain through analysis of transcriptomic datasets and compared the expression pattern between species. Finally, we morphometrically and histologically analyzed selected brain structures in Tcf4-haploinsufficient mice and compared our morphometric findings to neuroanatomical findings in PTHS patients. Results TCF4 is broadly expressed in cortical and subcortical structures in the developing and adult mouse brain. The TCF4 expression pattern was highly similar between humans, rhesus monkeys, and mice. Moreover, Tcf4 haploinsufficiency in mice replicated structural brain anomalies observed in PTHS patients. Conclusion Our data suggests that TCF4 is involved in the development and function of multiple brain regions and indicates that its regulation is evolutionary conserved. Moreover, our data validate Tcf4-haploinsufficient mice as a model to study the neurodevelopmental basis of PTHS.

Neurology. Diseases of the nervous system

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