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Search Results (826)

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18 pages, 3420 KB  
Article
From Establishment to Expansion: Changing Drivers of Acacia spp. Invasion in Mainland Central Portugal
by Matilde Salgueiro, Carla Mora and César Capinha
Forests 2026, 17(1), 135; https://doi.org/10.3390/f17010135 - 19 Jan 2026
Viewed by 160
Abstract
Land abandonment and recurrent wildfires are major drivers of landscape transformation in Mediterranean Europe, creating favorable conditions for the spread of non-native invasive woody species. Among these, Australian wattles (genus Acacia) are particularly widespread and problematic in Portugal. This work analyzed the [...] Read more.
Land abandonment and recurrent wildfires are major drivers of landscape transformation in Mediterranean Europe, creating favorable conditions for the spread of non-native invasive woody species. Among these, Australian wattles (genus Acacia) are particularly widespread and problematic in Portugal. This work analyzed the spatiotemporal dynamics of Acacia spp. in two municipalities of central Portugal (Sertã and Pedrógão-Grande) by combining multitemporal photointerpretation of aerial imagery (2004–2021), generalized additive models (GAMs), and local perception surveys. Results reveal a 417% increase in occupied area over the last two decades. Modeling outcomes indicate a temporal shift in invasion drivers: from an establishment phase (2004–2010), mainly constrained by altitude and proximity to primary introduction sites, to a disturbance-driven expansion phase (2010–2021), influenced by fire recurrence, slope, and land-use context. Spatial clustering persisted throughout, underscoring the role of founder populations. Surveys confirmed high public awareness of Acacia invasiveness and identified abandonment and wildfire as the main perceived triggers of spread. By integrating ecological and social dimensions, this study provides a socioecological perspective on Acacia spp. expansion in Mediterranean rural landscapes and highlights the urgent need for integrated, landscape-scale management strategies. Full article
(This article belongs to the Section Forest Ecology and Management)
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35 pages, 772 KB  
Article
Improvisation and New Venture Performance: Unpacking the Roles of Entrepreneurial Self-Efficacy and Learning Orientation
by Osama Elfghi, Kolawole Iyiola, Ahmad Bassam Alzubi and Hasan Yousef Aljuhmani
Sustainability 2026, 18(2), 975; https://doi.org/10.3390/su18020975 - 18 Jan 2026
Viewed by 178
Abstract
New ventures operating in volatile and unpredictable environments must rely on rapid adaptation and decisive action, making improvisation a critical entrepreneurial capability. This study examines how improvisation enhances new venture performance by uncovering the psychological and learning-based mechanisms through which its effects unfold. [...] Read more.
New ventures operating in volatile and unpredictable environments must rely on rapid adaptation and decisive action, making improvisation a critical entrepreneurial capability. This study examines how improvisation enhances new venture performance by uncovering the psychological and learning-based mechanisms through which its effects unfold. Drawing on the Knowledge-Based View (KBV) and Social Learning Theory (SLT), the model proposes that improvisation strengthens entrepreneurial self-efficacy, enabling entrepreneurs to approach uncertainty with greater confidence and adaptive judgment. Using a two-wave survey of 322 startup founders in Turkey and analyses conducted through PROCESS and complementary SEM estimation, the findings show that improvisation significantly boosts both entrepreneurial self-efficacy and new venture performance. Entrepreneurial self-efficacy emerges as a key mediating mechanism, indicating that improvisational experiences help entrepreneurs develop mastery, reinforce capability beliefs, and translate spontaneous action into improved outcomes. The results further suggest that improvisational episodes provide immediate learning cues that enhance situational awareness and decision-making agility, deepening the psychological pathway that links spontaneous behavior to venture performance. Additionally, relative explorative learning significantly moderates the relationship between improvisation and entrepreneurial self-efficacy, demonstrating that entrepreneurs benefit more from improvisation when they actively pursue new knowledge, experiment with unfamiliar approaches, and challenge routine assumptions. This moderating role clarifies when improvisation produces its strongest effects, while the mediating mechanism explains how performance improvements materialize through confidence-building processes. By integrating these mechanisms into a unified explanation, the study advances understanding of the improvisation–performance relationship and highlights the importance of learning-oriented behavior in converting spontaneous action into sustained entrepreneurial advantage. The findings offer theoretical contributions and actionable insights for entrepreneurs seeking to strengthen adaptability, resilience, and competitiveness in fast-changing environments. Full article
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21 pages, 903 KB  
Article
The Formation Mechanism of Sustainable Entrepreneurial Behavior in Chinese New Ventures: A Moderated Mediation Model
by Tianwei Huang, Fang Ding, Rongzhi Liu, Yihan Wang and Yong Lin
Sustainability 2026, 18(2), 926; https://doi.org/10.3390/su18020926 - 16 Jan 2026
Viewed by 168
Abstract
Sustainable entrepreneurship is essential for promoting the integrated development of economic, environmental, and social systems, particularly in emerging economies such as China. Drawing on social identity theory and resource bricolage theory, this study examines how founder identity influences sustainable entrepreneurial behavior and also [...] Read more.
Sustainable entrepreneurship is essential for promoting the integrated development of economic, environmental, and social systems, particularly in emerging economies such as China. Drawing on social identity theory and resource bricolage theory, this study examines how founder identity influences sustainable entrepreneurial behavior and also explores the mediating role of entrepreneurial bricolage and the moderating effect of perceived uncertainty. Using survey data from 210 Chinese new ventures, the hypotheses were tested by structural equation modeling and moderated mediation analysis. The empirical results indicate that founder identity positively influences sustainable entrepreneurship, with entrepreneurial bricolage partially mediating this relationship. Moreover, perceived uncertainty weakens the positive relationship between founder identity and bricolage. It also reduces the indirect effect of bricolage on sustainable entrepreneurship, indicating that higher uncertain environments constrain entrepreneurs’ willingness to rely on bricolage as a resource acquisition strategy. By elucidating the underlying mechanisms and boundary conditions through which founder identity influences sustainable entrepreneurial behavior, this study enriches micro-level research on sustainable entrepreneurship. It also provides practical insights for entrepreneurs and policymakers in strengthening strategic resilience and fostering the development of sustainable entrepreneurship. Full article
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25 pages, 3334 KB  
Article
Enhanced Integration of Multi-Disciplinary Inputs into a Narrative of an Ancient Migration, Based on Greater Chronological Precision Provided by a Novel Y-DNA Clock and Phylogenetic Branching
by Desmond D. Mascarenhas, Balaji Rajagapolan, John W. Fox and Richard J. Johnson
Genealogy 2026, 10(1), 14; https://doi.org/10.3390/genealogy10010014 - 14 Jan 2026
Viewed by 291
Abstract
An accurate DNA clock can strengthen cross-disciplinary inputs in the study of genealogies and ancient migrations. New Y-chromosome sequence data gathered from a Lotli Pai Kaundinya (LPK) Brahmin cohort whose staged migration from the Pontic Steppe to the West Coast of India was [...] Read more.
An accurate DNA clock can strengthen cross-disciplinary inputs in the study of genealogies and ancient migrations. New Y-chromosome sequence data gathered from a Lotli Pai Kaundinya (LPK) Brahmin cohort whose staged migration from the Pontic Steppe to the West Coast of India was previously reported, are used here to generate a more precise DNA clock. The formula distinguishes Y-mutation rates for transitions and transversions and corrects for dropped mutations in sequence reads. The formula is validated against a baptismal tree covering over four centuries (0–704 YBP interval), a published STR-based chronology for this same cohort (704–5200 YBP) and a comparison to Y-Full formation times for mutations older than 3000 YBP. Using this more precise clock, we support a proposed “founder effect” expansion in Khorasan during 4300–3800 YBP using a novel phylogenetic branching metric; and use archeological, numismatic, toponymic, climate reconstruction and ancient textual data to explore religious and professional dimensions of cultural kinship with other communities believed to have interacted with the LPK during their long migration. The availability of more precise dating facilitates the integration of such secondary data types, resulting in an enriched and more plausible migration narrative. Full article
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29 pages, 25804 KB  
Review
Rhodoliths as Global Contributors to a Carbonate Ecosystem Dominated by Coralline Red Algae with an Established Fossil Record
by Markes E. Johnson
J. Mar. Sci. Eng. 2026, 14(2), 169; https://doi.org/10.3390/jmse14020169 - 13 Jan 2026
Viewed by 318
Abstract
Rhodoliths (from Greek etymology meaning red + stone) are spheroidal accretions composed of various types of crustose coralline red algae that dwell in relatively shallow waters where sunlight allows for photosynthesis. Unlike most other kinds of algae that are attached to the seabed [...] Read more.
Rhodoliths (from Greek etymology meaning red + stone) are spheroidal accretions composed of various types of crustose coralline red algae that dwell in relatively shallow waters where sunlight allows for photosynthesis. Unlike most other kinds of algae that are attached to the seabed by a holdfast, rhodoliths are free to roll about by circumrotary movements stimulated mainly by gentle wave action and bottom currents, as well as by disruptions by associated fauna. Frequent movement exposes every part of the algal surface to an equitable amount of sunlight, which generally results in an evenly concentric pattern of growth over time. Individual structures may attain a diameter of 10 to 20 cm, representing 100 years of growth or more. Initiation typically involves encrustation by founder cells on a rock pebble or shell fragment. In life, the functional outer surface is red or pink in complexion, whereas the structure’s inner core amounts to dead weight. Chemically, rhodoliths are composed of high magnesium calcite [(Ca,Mg)CO3], with examples known around many oceanic islands and virtually all continental shelves in the present world. The oldest fossil rhodoliths appeared during the early Cretaceous, 113 million years ago. Geologically, rhodoliths may occur in massive limestone beds composed of densely packed accumulations. Living rhodoliths commonly occur in waters as shallow as −2 to −10 m, as well as seaward in mesophotic waters up to −100 m under exceptional conditions of water clarity. Especially in shallower waters, rhodoliths are vulnerable to transfer by storm waves to supratidal settings, which result in bleaching under direct sunlight and death. Increasingly, marine biologists recognize that rhodolith beds represent a habitat that offers shelter to a community of other algae and diverse marine invertebrates. Full article
(This article belongs to the Special Issue Feature Review Papers in Geological Oceanography)
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9 pages, 709 KB  
Communication
Towards Next-Generation Sequencing as a First-Tier Diagnostic Test for Fructose-1,6-Bisphosphatase Deficiency
by Nadine Yazbeck, Abir Barhoumi and Pascale E. Karam
Metabolites 2026, 16(1), 56; https://doi.org/10.3390/metabo16010056 - 8 Jan 2026
Viewed by 186
Abstract
Background: Advances in genomic technologies combined with tandem mass newborn screening have enabled early detection and management of several common inborn errors of metabolism. Fructose-1,6-bisphosphatase deficiency, an autosomal recessive treatable disorder reported in around 150 patients worldwide, remains underdiagnosed despite an excellent prognosis [...] Read more.
Background: Advances in genomic technologies combined with tandem mass newborn screening have enabled early detection and management of several common inborn errors of metabolism. Fructose-1,6-bisphosphatase deficiency, an autosomal recessive treatable disorder reported in around 150 patients worldwide, remains underdiagnosed despite an excellent prognosis with early detection. Although common in highly consanguineous populations, diagnosis is often delayed due to the non-specific clinical and biochemical profile. Methods: This report explores the diagnostic pathway using first-tier next-generation sequencing of three novel cases of fructose-1,6-bisphosphatase deficiency in a tertiary care center in Lebanon. Results: Two patients were diagnosed with first-tier exome sequencing within one month of presentation and had an excellent outcome at 6 years of follow-up. The third patient, undiagnosed for 10 years, suffered from neurological sequalae. The molecular profile was remarkable in two patients for exon 2 deletion in the FBP1 gene, a founder mutation reported in Turkish and Armenian patients, and a rare frameshift mutation in the third case. Conclusions: The use of next-generation sequencing as as a first-tier test for FBP deficiency is a non-invasive and rapid method for early diagnosis and management of this rare yet treatable disorder. It can detect both disease-causing variants and large deletions, founder mutations as well, delineating the molecular profile in populations where this disorder is highly prevalent. Full article
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22 pages, 1330 KB  
Article
Configurational Pathways to Technology Venture Creation: How Spousal Endorsement and Informal Support Enable Omani Women’s Entrepreneurship
by Husam N. Yasin, Samir Hammami, Ahmed Samour and Faris Alshubiri
Adm. Sci. 2026, 16(1), 32; https://doi.org/10.3390/admsci16010032 - 8 Jan 2026
Viewed by 272
Abstract
This study investigates the configurational pathways enabling women in Oman to translate entrepreneurial intentions into technology venture creation. By integrating institutional theory and resource-based view, we develop a novel framework examining how formal institutional support (FIS), informal institutional support (IIS), and digital self-efficacy [...] Read more.
This study investigates the configurational pathways enabling women in Oman to translate entrepreneurial intentions into technology venture creation. By integrating institutional theory and resource-based view, we develop a novel framework examining how formal institutional support (FIS), informal institutional support (IIS), and digital self-efficacy (DSE) interact in Oman’s conservative context. We emphasize the significant enabling role of work–life balance resources (WLBR) and the cultural legitimacy of spousal endorsement. Our mixed-methods design utilizes survey data from 418 female IT graduates and 20 semi-structured interviews, analyzed through fuzzy-set Qualitative Comparative Analysis (fsQCA). The findings indicate that FIS predicts entrepreneurial intention (β = 0.34, p < 0.001) but not venture creation (OR = 0.85, p = 0.298), revealing a visibility gap in policy implementation. IIS predicts venture creation (OR = 1.43, p = 0.033), with spousal endorsement acting as a cultural legitimacy signal. DSE alone fails to predict venture creation but is vital when combined with WLBR. FsQCA identifies a sufficient configuration pathway characterized by the combination of spousal endorsement, domestic support, DSE, and WLBR with solution consistency of 0.93 and coverage of 0.78. WLBR is a necessary condition with necessity consistency of 0.96, demonstrating that venture creation is improbable without it. Qualitative evidence shows founders reposition conservative norms as legitimacy signals, while non-founders emphasize funding barriers despite policy awareness. We recommend that policymakers subsidize care infrastructure, leverage women-led community networks for targeted outreach, and formalize state-backed legitimacy programs that reduce kinship dependency while building autonomy-focused alternatives. Full article
(This article belongs to the Section Gender, Race and Diversity in Organizations)
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3 pages, 151 KB  
Editorial
Ten Years of JFMK: Scientific Progress, Disciplinary Evolution, and the Future of Human Movement Research
by Giuseppe Musumeci
J. Funct. Morphol. Kinesiol. 2026, 11(1), 28; https://doi.org/10.3390/jfmk11010028 - 8 Jan 2026
Viewed by 267
Abstract
Ten years have already passed since we made this journal available to the academic community, I must say that after all the results we have achieved in these ten years, I was not wrong to launch and found this journal and for this [...] Read more.
Ten years have already passed since we made this journal available to the academic community, I must say that after all the results we have achieved in these ten years, I was not wrong to launch and found this journal and for this I thank the Founder and Chairman of the MDPI Board, for believing in me and granting me this important mission and trust [...] Full article
25 pages, 1709 KB  
Article
Financing Startups and Impact Investing: Evidence Across MENA Countries
by Slim Mseddi
Int. J. Financial Stud. 2026, 14(1), 7; https://doi.org/10.3390/ijfs14010007 - 5 Jan 2026
Viewed by 349
Abstract
This study empirically investigates the determinants of financial success for startups engaged in impact versus conventional investment, performing a landscape analysis of the MENA region’s financial ecosystem. Using the total equity funding amount (TEFA) as a performance proxy, we analyzed data from Crunchbase [...] Read more.
This study empirically investigates the determinants of financial success for startups engaged in impact versus conventional investment, performing a landscape analysis of the MENA region’s financial ecosystem. Using the total equity funding amount (TEFA) as a performance proxy, we analyzed data from Crunchbase on 6772 deals involving 4381 startups and 1771 investors across 23 countries from 2009 to 2023. The sample was categorized into impact (702 firms) and conventional (2431 firms) investment groups. The results reveal a significant negative effect of impact investment on startup funding levels; a nonparametric test confirmed that impact-backed startups exhibit a significantly lower mean TEFA than their conventional counterparts. Other factors, including the number of funding rounds, founders, employees, and investors, positively influenced financial success. The study concludes that, within the MENA context, a discernible trade-off exists, with startups pursuing impact investment receiving less equity funding than those utilizing conventional investment models. Our study provides the first large-scale empirical evidence from the MENA region, revealing a significant funding penalty for impact-aligned startups. This quantifies a structural trade-off between socio-environmental goals and equity capital access. These findings address a critical literature gap and provide actionable insights for investors and policymakers in this emerging ecosystem. Full article
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21 pages, 327 KB  
Article
Strategic Communication in Women-Led Start-Ups: An Exploratory Study in Galicia
by Patricia Comesaña-Comesaña, Mónica López-Golán and Angélica Comesaña-Comesaña
Journal. Media 2026, 7(1), 7; https://doi.org/10.3390/journalmedia7010007 - 1 Jan 2026
Viewed by 346
Abstract
This exploratory study examines strategic communication in Galician start-ups led by women, with the aim of analysing reputation management mechanisms, the channels and tools used, and the challenges associated with building a differentiated identity in the entrepreneurial ecosystem. A qualitative approach was adopted, [...] Read more.
This exploratory study examines strategic communication in Galician start-ups led by women, with the aim of analysing reputation management mechanisms, the channels and tools used, and the challenges associated with building a differentiated identity in the entrepreneurial ecosystem. A qualitative approach was adopted, combining a focus group with nine female entrepreneurs, documentary analysis and case studies. The results show that this ecosystem is structured around three relevant dimensions: institutional support provided by universities, accelerators and pioneering programmes; territorial roots, as a strategic resource for legitimacy and differentiation; and personal narratives that link innovation with everyday experience and strengthen empathy with audiences. There is a notable progressive professionalisation of communication as an instrument for growth, risk governance and identity consolidation, in which digital platforms play a significant role. Horizontal leadership styles, based on transparency and empathy, are configured as reputational attributes where the status of women founders can generate differential advantages in visibility and credibility, but also challenges in masculinised environments. The discussion identifies three key challenges: overcoming reluctance to public exposure, strengthening peer support networks, and promoting inclusive and understandable language. The findings highlight strategic communication as a cross-cutting resource for business and social legitimacy and sustainability in Galician female entrepreneurship. Full article
(This article belongs to the Special Issue Communication in Startups: Competitive Strategies for Differentiation)
25 pages, 12847 KB  
Article
A Look Back at the Irrigated Areas of the Medieval Town of Tāmdult (Morocco)
by Patrice Cressier and Ricardo González-Villaescusa
Land 2026, 15(1), 69; https://doi.org/10.3390/land15010069 - 30 Dec 2025
Viewed by 353
Abstract
From the 9th century onwards, Tāmdult was one of the three major caravan ports in the Western Maghreb, alongside Sijilmāssa and Nūl Lamṭa. By the mid-20th century, the remains of dwellings, metallurgical production sites and fortifications had been located a few kilometres south [...] Read more.
From the 9th century onwards, Tāmdult was one of the three major caravan ports in the Western Maghreb, alongside Sijilmāssa and Nūl Lamṭa. By the mid-20th century, the remains of dwellings, metallurgical production sites and fortifications had been located a few kilometres south of the present-day oasis of Aqqa, which is irrigated by the resurgence of the wadi of the same name. In 1999, our research, which was based on field surveys and aerial photographs, revealed exceptionally well-preserved traces of a large-scale agricultural system and an irrigation canal network adjacent to the ruins. This completed the picture of this pre-Saharan oasis. An initial study was published in 2011. However, the question of the chronological relationship between the two oases, Tāmdult and Aqqa, remained unresolved. Processing recent satellite images (Airbus © 2023) of these two oases and creating a WebGIS interface now enables us to refine and correct our observations from 1999. This new data largely confirms our initial proposals, such as the joint development of an urban settlement and an agricultural area with an irrigation network. Furthermore, these new images show the branching structure of the various water distribution channels, the regularity of the agricultural land parcels and the existence of interstitial rural settlements. They thus reveal a hierarchy in this distribution that was perhaps insufficiently explored in our initial publication. Given the limited historical sources available, we can now make more informed arguments regarding the possibility of the two oases coexisting over time. We can also propose initial hypotheses about the main reasons for the abandonment of one of the oases and discuss the identity of their founders, which could be local tribal groups and/or branches of the Idrisid dynasty. The central issue of the dossier to which our contribution is addressed—‘The Role of Urban Elites in the Construction of Rural Landscape’—is adapted here to the specific characteristics of the pre-Saharan context in terms of both climate and settlement structure. Full article
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18 pages, 295 KB  
Article
Mind the AI Gap: Asymmetrical Age Differences in Entrepreneurs’ Perceptions of Artificial Intelligence
by Katja Crnogaj, Pina Slaček and Maja Rožman
Adm. Sci. 2026, 16(1), 8; https://doi.org/10.3390/admsci16010008 - 24 Dec 2025
Viewed by 452
Abstract
As artificial intelligence (AI) becomes embedded in entrepreneurial practice, an unresolved question is whether age shapes founders’ perceptions of its opportunities and risks. Drawing on diffusion-of-innovations and technology adoption theories, this study examines whether age cohorts differ in their perceived benefits of AI, [...] Read more.
As artificial intelligence (AI) becomes embedded in entrepreneurial practice, an unresolved question is whether age shapes founders’ perceptions of its opportunities and risks. Drawing on diffusion-of-innovations and technology adoption theories, this study examines whether age cohorts differ in their perceived benefits of AI, perceived risks, and short-term expectations regarding AI’s business impact. Using data from the 2024 Global Entrepreneurship Monitor (GEM) survey for Slovenia, we analyze ordinal indicators across all three domains. Bivariate comparisons using Mann–Whitney U tests with effect sizes are complemented by multivariate ordinal logistic regression models controlling for sector, education, and gender. The analysis reveals an asymmetrical age gap in AI perceptions. Younger entrepreneurs report higher perceived benefits and more positive impact expectations, while AI-related risk perceptions do not vary by age. Multivariate analyses show that age effects on perceived benefits are context-dependent, whereas age remains a robust predictor of future-oriented impact expectations. The study offers a theoretically grounded and methodologically transparent analysis integrating technology adoption frameworks with entrepreneurial psychology. Practically, it underscores the need for differentiated AI-readiness initiatives that address age-related differences in strategic orientation and preparedness. Future research could further explore the roles of capabilities, industry context, and entrepreneurial experience. Full article
25 pages, 8240 KB  
Article
Novel Bacillus-Infecting Phage Bquatquinnuvirus eskimopiis (Strains B450T and B450C), Founder of a New Genus, and the Properties of Its Endolysin
by Olesya A. Kazantseva, Olga N. Koposova, Irina A. Shorokhova, Vladislav A. Kulyabin and Andrey M. Shadrin
Int. J. Mol. Sci. 2026, 27(1), 131; https://doi.org/10.3390/ijms27010131 - 22 Dec 2025
Viewed by 359
Abstract
This study characterizes two novel Bacillus phages, B450T and B450C, isolated from Bacillus thuringiensis VKM B-450 via mitomycin C induction, along with their endolysin, PlyC19. Both phages, siphoviruses with 41,205 bp genomes, lysed 38% of the tested Bacillus cereus sensu lato strains, with [...] Read more.
This study characterizes two novel Bacillus phages, B450T and B450C, isolated from Bacillus thuringiensis VKM B-450 via mitomycin C induction, along with their endolysin, PlyC19. Both phages, siphoviruses with 41,205 bp genomes, lysed 38% of the tested Bacillus cereus sensu lato strains, with B450C showing enhanced lytic activity due to mutations in the repressor protein. PlyC19 lysed 56% of the strains tested, including Priestia flexa, demonstrating broader efficacy. Its Amidase_2 domain and dual SH3 cell wall-binding domains enable targeted peptidoglycan hydrolysis, with optimal activity at pH 9.0 and thermal stability up to 40 °C. We propose the taxonomic designation Bquatquinnuvirus eskimopiis for these phages, with B450T and B450C representing distinct strains, based on genomic divergence in the repressor protein’s HTH_Xre domain, consistent with their turbid and clear plaque morphologies, respectively. PlyC19′s broad specificity underscores its potential as an enzybiotic against multidrug-resistant Bacillus cereus group strains in food safety and medicine. Full article
(This article belongs to the Special Issue Bacteriophage—Molecular Studies (6th Edition))
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23 pages, 1644 KB  
Review
The CTDP1 Founder Variant in CCFDN: Insights into Pathogenesis, Phenotypic Spectrum and Therapeutic Approaches
by Iulia Maria Sabau, Alexandra Chera, Victor Gabriel Ungureanu, Mircea Cretu Stancu, Adela Chirita-Emandi, Matthew Wood, Maria Puiu and Octavian Bucur
Int. J. Mol. Sci. 2026, 27(1), 34; https://doi.org/10.3390/ijms27010034 - 19 Dec 2025
Viewed by 470
Abstract
Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) syndrome is a rare autosomal recessive disorder predominantly found among Vlax Roma populations, caused by a deep intronic founder variant in the CTDP1 gene. This review synthesizes recent advances in understanding the molecular mechanisms of CTDP1 [...] Read more.
Congenital Cataracts, Facial Dysmorphism, and Neuropathy (CCFDN) syndrome is a rare autosomal recessive disorder predominantly found among Vlax Roma populations, caused by a deep intronic founder variant in the CTDP1 gene. This review synthesizes recent advances in understanding the molecular mechanisms of CTDP1 dysfunction, highlighting its central role in transcriptional regulation, RNA splicing, DNA repair, and genome integrity. The unique splicing defect caused by the founder disease-causing variant in the Roma population results in a multisystem phenotype with early-onset neuropathy, congenital cataracts, and characteristic facial dysmorphism. Beyond its genetic homogeneity, CCFDN displays variable clinical severity and presents diagnostic challenges due to overlapping syndromic features. We discuss the emerging therapeutic landscape, focusing on antisense oligonucleotides, small molecule modulators, gene replacement, and genome or transcriptome editing strategies, while emphasizing the challenges in targeted delivery and efficacy. Ongoing insights into CTDP1’s broader biological functions and population genetics inform new directions for diagnosis, genetic counselling, and the development of effective therapies for this severe yet underrecognized disorder. Full article
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10 pages, 824 KB  
Case Report
A Novel ATRIP Mutation Detected in an Iranian Family with Familial Clustering of Breast Cancer: A Case Report
by Neda Zamani, Mehar Chahal, Iman Salahshourifar, Reiyhane Talebian and Mohammad R. Akbari
Curr. Oncol. 2025, 32(12), 711; https://doi.org/10.3390/curroncol32120711 - 17 Dec 2025
Viewed by 347
Abstract
Purpose: ATRIP (ATR-interacting protein) is a critical partner of ATR (ataxia telangiectasia and Rad3-related). The ATR-ATRIP heterodimer plays an essential role in initiating homologous recombination repair (HRR) during replication stress and inducing double-stranded DNA breaks following unresolved stalled replication forks. Our team recently [...] Read more.
Purpose: ATRIP (ATR-interacting protein) is a critical partner of ATR (ataxia telangiectasia and Rad3-related). The ATR-ATRIP heterodimer plays an essential role in initiating homologous recombination repair (HRR) during replication stress and inducing double-stranded DNA breaks following unresolved stalled replication forks. Our team recently identified ATRIP as a novel breast cancer susceptibility gene candidate through whole-exome sequencing (WES) of familial breast cancer patients and healthy controls from the Polish founder population, with subsequent validation in both Polish and British cohorts. In the present study, we report for the first time the detection of a novel deleterious mutation in ATRIP among several members of an Iranian family with clustering of breast cancer who were negative for mutations in the already known breast cancer risk genes. Methods: Six family members underwent germline DNA testing by WES, following initial negative results from multigene panel testing. Candidate variants were confirmed by Sanger sequencing and assessed according to ACMG guidelines. Results: We detected a novel ATRIP frameshift mutation (NM_130384.3:c.1033delC) in four of six family members that were tested, including two individuals affected with breast cancer. No pathogenic variants were found in other known cancer susceptibility genes. Conclusions: This is the first report of a deleterious ATRIP mutation in an Iranian family with familial breast cancer, suggesting a potential role of ATRIP in hereditary breast cancer. Further studies are required to confirm the role of ATRIP in breast cancer susceptibility, refine risk assessment, and evaluate potential personalized therapeutic strategies. In the interim, genetic counseling for ATRIP mutation carriers should proceed with caution, given current limitations in clinical interpretation. Full article
(This article belongs to the Special Issue Advanced Research on Breast Cancer Genes in Cancers)
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