Displaying publications 1 - 20 of 119 in total

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  1. Meliana C, Liu J, Show PL, Low SS
    Bioengineered, 2024 Dec;15(1):2310908.
    PMID: 38303521 DOI: 10.1080/21655979.2024.2310908
    The burden of food contamination and food wastage has significantly contributed to the increased prevalence of foodborne disease and food insecurity all over the world. Due to this, there is an urgent need to develop a smarter food traceability system. Recent advancements in biosensors that are easy-to-use, rapid yet selective, sensitive, and cost-effective have shown great promise to meet the critical demand for onsite and immediate diagnosis and treatment of food safety and quality control (i.e. point-of-care technology). This review article focuses on the recent development of different biosensors for food safety and quality monitoring. In general, the application of biosensors in agriculture (i.e. pre-harvest stage) for early detection and routine control of plant infections or stress is discussed. Afterward, a more detailed advancement of biosensors in the past five years within the food supply chain (i.e. post-harvest stage) to detect different types of food contaminants and smart food packaging is highlighted. A section that discusses perspectives for the development of biosensors in the future is also mentioned.
  2. Li H, Mustapha WAW, Liu J, Zhang X
    Food Chem X, 2024 Mar 30;21:101230.
    PMID: 38426076 DOI: 10.1016/j.fochx.2024.101230
    This work expands the functionality of fish scale gelatin (FSG) as a carrier of hydrophobic bioactive substances. The hydrophobicity of FSG was enhanced to promote its interaction with hydrophobic curcumin and to increase its bioavailability. This results in a remarkable increase in the curcumin loading capacity of acid-hydrolyzed FSG (HFSG) from 1.08 ± 0.08 μg/mg (0 h) to 9.15 ± 0.21 μg/mg (3 h). The amino acid composition indicated that acid hydrolysis effectively increased the ratio of hydrophobic amino acids of FSG. Acid hydrolysis facilitated the transformation of the α-helical conformation into a β-sheet structure. Hydrophobic interactions between HFSG and curcumin were strengthened by moderate acid hydrolysis. A sustained-release profile emerged for the curcumin-loaded HFSG during simulated gastrointestinal digestion, thereby improving the bioaccessibility and bioavailability of curcumin. These findings contribute to the application of acid hydrolysis in modifying FSG for enhanced hydrophobicity and curcumin loading capacity in the food industry.
  3. Aralappanavar VK, Mukhopadhyay R, Yu Y, Liu J, Bhatnagar A, Praveena SM, et al.
    Sci Total Environ, 2024 Mar 02.
    PMID: 38438042 DOI: 10.1016/j.scitotenv.2024.171435
    The harmful effects of microplastics (MPs) pollution in the soil ecosystem have drawn global attention in recent years. This paper critically reviews the effects of MPs on soil microbial diversity and functions in relation to nutrients and carbon cycling. Reports suggested that both plastisphere (MP-microbe consortium) and MP-contaminated soils had distinct and lower microbial diversity than non-contaminated soils. Alteration in soil physicochemical properties and microbial interactions within the plastisphere facilitated the enrichment of plastic-degrading microorganisms, including those involved in C and nutrient cycling. MPs conferred a significant increase in the relative abundance of soil N2-fixing and P-solubilizing bacteria, while decreased the abundance of soil nitrifiers and ammonia oxidisers. Depending on soil types, MPs increased bioavailable N and P contents and nitrous oxide emission in some instances. Furthermore, MPs regulated soil microbial functional activities owing to the combined toxicity of organic and inorganic contaminants derived from MPs and contaminants frequently encountered in the soil environment. However, a thorough understanding of the interactions among soil microorganisms, MPs and other contaminants still needs to develop. Since currently available reports are mostly based on short-term laboratory experiments, field investigations are needed to assess the long-term impact of MPs (at environmentally relevant concentration) on soil microorganisms and their functions under different soil types and agro-climatic conditions.
  4. Wei J, Xiao Y, Liu J, Herrera-Ulloa A, Loh KH, Xu K
    Sci Data, 2024 Feb 23;11(1):234.
    PMID: 38395996 DOI: 10.1038/s41597-024-03070-0
    Pampus argenteus (Euphrasen, 1788) is one of the major fishery species in coastal China. Pampus argenteus has a highly specialized morphology, and its declining fishery resources have encouraged massive research efforts on its aquacultural biology. In this study, we reported the first high-quality chromosome-level genome of P. argenteus obtained by integrating Illumina, PacBio HiFi, and Hi-C sequencing techniques. The final size of the genome was 518.06 Mb, with contig and scaffold N50 values of 20.47 and 22.86 Mb, respectively. The sequences were anchored and oriented onto 24 pseudochromosomes based on Hi-C data corresponding to the 24-chromatid karyotype of P. argenteus. A colinear relationship was observed between the P. argenteus genome and that of a closely related species (Scomber japonicus). A total of 24,696 protein-coding genes were identified from the genome, 98.9% of which were complete BUSCOs. This report represents the first case of high-quality chromosome-level genome assembly for P. argenteus and can provide valuable information for future evolutionary, conservation, and aquacultural research.
  5. Tong M, Liu P, Li C, Zhang Z, Sun W, Dong P, et al.
    J Chem Inf Model, 2024 Feb 12;64(3):785-798.
    PMID: 38262973 DOI: 10.1021/acs.jcim.3c01584
    The allosteric modulation of the homodimeric H10-03-6 protein to glycan ligands L1 and L2, and the STAB19 protein to glycan ligands L3 and L4, respectively, has been studied by molecular dynamics simulations and free energy calculations. The results revealed that the STAB19 protein has a significantly higher affinity for L3 (-11.38 ± 2.32 kcal/mol) than that for L4 (-5.51 ± 1.92 kcal/mol). However, the combination of the H10-03-6 protein with glycan L2 (1.23 ± 6.19 kcal/mol) is energetically unfavorable compared with that of L1 (-13.96 ± 0.35 kcal/mol). Further, the binding of glycan ligands L3 and L4 to STAB19 would result in the significant closure of the two CH2 domains of the STAB19 conformation with the decrease of the centroid distances between the two CH2 domains compared with the H10-03-6/L1/L2 complex. The CH2 domain closure of STAB19 relates directly to the formation of new hydrogen bonds and hydrophobic interactions between the residues Ser239, Val240, Asp265, Glu293, Asn297, Thr299, Ser337, Asp376, Thr393, Pro395, and Pro396 in STAB19 and glycan ligands L3 and L4, which suggests that these key residues would contribute to the specific regulation of STAB19 to L3 and L4. In addition, the distance analysis revealed that the EF loop in the H10-03-6/L1/L2 model presents a high flexibility and partial disorder compared with the stabilized STAB19/L3/L4 complex. These results will be helpful in understanding the specific regulation through the asymmetric structural characteristics in the CH2 and CH3 domains of the H10-03-6 and STAB19 proteins.
  6. Hayrapetyan A, Tumasyan A, Adam W, Andrejkovic JW, Bergauer T, Chatterjee S, et al.
    Phys Rev Lett, 2024 Feb 09;132(6):061801.
    PMID: 38394587 DOI: 10.1103/PhysRevLett.132.061801
    The first search for scalar leptoquarks produced in τ-lepton-quark collisions is presented. It is based on a set of proton-proton collision data recorded with the CMS detector at the LHC at a center-of-mass energy of 13 TeV corresponding to an integrated luminosity of 138  fb^{-1}. The reconstructed final state consists of a jet, significant missing transverse momentum, and a τ lepton reconstructed through its hadronic or leptonic decays. Limits are set on the product of the leptoquark production cross section and branching fraction and interpreted as exclusions in the plane of the leptoquark mass and the leptoquark-τ-quark coupling strength.
  7. Li H, Wan Mustapha WA, Tian G, Dong N, Zhao F, Zhang X, et al.
    Food Chem, 2024 Jan 15;431:137102.
    PMID: 37579608 DOI: 10.1016/j.foodchem.2023.137102
    To enhance the solubility of hydrophobic nutrients, the hydrophobicity of fish scale gelatin hydrolysate (FSGH) was increased with moderate acid or alkali hydrolysis. Acid-induced FSG hydrolysate (AcFSGH) at 3 h showed a superior curcumin loading efficiency (18.30 ± 0.38 μg/mL) among all FSGHs. Compared with FSG, the proportion of hydrophobic amino acids (from 41.1% to 46.4%) and the hydrophobic interaction (from 12.72 to 20.10 mg/mL) was significantly increased in the AcFSGH. Meanwhile, the transformation of the α-helix (from 12.8% to 4.9%) to the β-sheet (from 29.0% to 42.8%) was also observed in the AcFSGH. Based on the observation in the molecular weight and morphological analysis, AcFSGH acquired the best hydrophobic interaction with curcumin, presumably due to the formation of the flexible structure of the linear hydrolyzates. The above results call for an investigation of the role of FSG hydrolysate in the synthesis of nanoparticles loaded with bioactive lipophilic compounds.
  8. Aad G, Abbott B, Abeling K, Abicht NJ, Abidi SH, Aboulhorma A, et al.
    Phys Rev Lett, 2024 Jan 12;132(2):021803.
    PMID: 38277607 DOI: 10.1103/PhysRevLett.132.021803
    The first evidence for the Higgs boson decay to a Z boson and a photon is presented, with a statistical significance of 3.4 standard deviations. The result is derived from a combined analysis of the searches performed by the ATLAS and CMS Collaborations with proton-proton collision datasets collected at the CERN Large Hadron Collider (LHC) from 2015 to 2018. These correspond to integrated luminosities of around 140  fb^{-1} for each experiment, at a center-of-mass energy of 13 TeV. The measured signal yield is 2.2±0.7 times the standard model prediction, and agrees with the theoretical expectation within 1.9 standard deviations.
  9. Li SZ, Liu J, Ke XC, Cheng G, Wang B
    Zookeys, 2024;1189:33-54.
    PMID: 38314114 DOI: 10.3897/zookeys.1189.115621
    The Torrent frogs of the genus Amolops are widely distributed in Nepal and northern India eastwards to southern China and southwards to Malaysia. The genus currently contains 84 species. Previous studies indicated underestimated species diversity in the genus. In the context, a new species occurring from the mountains in the northwestern Guizhou Province, China is found and described based on morphological comparisons and molecular phylogenetic analyses, Amolopsdafangensissp. nov. Phylogenetic analyses based on DNA sequences of the mitochondrial 16S rRNA and COI genes supported the new species as an independent lineage. The uncorrected genetic distances between the 16S rRNA and COI genes in the new species and its closest congener were 0.7% and 2.6%, respectively, which are higher than or at the same level as those among many pairs of congeners. Morphologically, the new species can be distinguished from its congeners by a combination of the following characters: body size moderate (SVL 43.2-46.8 mm in males); head length larger than head width slightly; tympanum distinct, oval; vocal sacs absent; vomerine teeth present; dorsolateral folds weak formed by series of glands; nuptial pads present on the base of finger I; heels overlapping when thighs are positioned at right angles to the body; tibiotarsal articulation reaching the level far beyond the tip of the snout when leg stretched forward.
  10. Wu X, Zhang W, Li Y, Zheng L, Liu J, Jiang Y, et al.
    PLoS One, 2024;19(1):e0295118.
    PMID: 38166098 DOI: 10.1371/journal.pone.0295118
    BACKGROUND: As an important factor affecting personal health, anxiety has always been valued by people. Prior research has consistently shown that personality traits is associated with anxiety level,but little is known about the inner mechanism of this relationship. To fill the gap, the present research aims to explore the chain mediating role of general self-efficacy and academic burnout in the relationship between big five personality and anxiety.

    METHODS: This cross-sectional study was performed from September to November 2022. Self-reported questionnaires including the Big Five Personality Questionnaire, General Self-Efficacy Scale, College Student's academic burnout Scale, Generalized Anxiety Scale and demographic characteristics were distributed to 2505 college students in a university in Hebei Province, of which 2,471 were valid. Statistical analysis was carried out through SPSS26.0 and SPSS PROCESS macro.

    RESULTS: Results showed four of the big five personality characters (i.e., extraversion, agreeableness, conscientiousness, and openness) were negatively correlated with anxiety. Neuroticism was positively correlated with anxiety. Moreover, general self-efficacy was found to be negatively correlated with academic burnout and anxiety; academic burnout was positively correlated with anxiety. Finally, general self-efficacy and academic burnout mediated the relationship between personality traits (i.e., extraversion, agreeableness, neuroticism, openness) and anxiety.

    CONCLUSIONS: Personality traits (i.e., extraversion, agreeableness, neuroticism, and openness) could influence anxiety through the chain mediating effects of general self-efficacy and academic burnout. Interventions focusing on anxiety reduction may be successful in increasing general self-efficacy and decreasing students' academic burnout.

  11. Li S, Li W, Cheng Y, Liu J, Wei G, Wang B
    Biodivers Data J, 2024;12:e113427.
    PMID: 38235166 DOI: 10.3897/BDJ.12.e113427
    BACKGROUND: The Asian leaf litter toads of the genus Leptobrachella Smith, 1925 (Anura, Megophryidae) inhabit the forest floor and rocky streams in hilly evergreen forests and are widely distributed from southern China, west to north-eastern India and Myanmar, through mainland Indochina to Peninsular Malaysia and the Island of Borneo.

    NEW INFORMATION: A new species of the Asian leaf litter toad genus Leptobrachella from Guizhou Province, China is described. Molecular phylogenetic analyses, based on mitochondrial 16S rRNA and COI genes and nuclear RAG1 gene sequences indicated that the new species is genetically divergent from its congeners. The new species could be distinguished from its congeners by a combination of the following characters: (1) body of medium size in males (SVL 31.9 - 32.9 mm); (2) distinct black spots present on flanks; (3) toes rudimentarily webbed, with wide lateral fringes; (4) skin on dorsum shagreened with fine tiny granules and short ridges; (5) heels overlapped when thighs are positioned at right angles to the body; (6) tibia-tarsal articulation reaching interior corner of the eye.A new species of the Asian leaf litter toad genus Leptobrachella from Guizhou Province, China is described. Molecular phylogenetic analyses, based on mitochondrial 16S rRNA and COI genes and nuclear RAG1 gene sequences indicated that the new species is genetically divergent from its congeners. The new species could be distinguished from its congeners by a combination of the following characters: (1) body of medium size in males (SVL 31.9 - 32.9 mm); (2) distinct black spots present on flanks; (3) toes rudimentarily webbed, with wide lateral fringes; (4) skin on dorsum shagreened with fine tiny granules and short ridges; (5) heels overlapped when thighs are positioned at right angles to the body; (6) tibia-tarsal articulation reaching interior corner of the eye.

  12. Tham LK, Al Kouzbary M, Al Kouzbary H, Liu J, Abu Osman NA
    Phys Eng Sci Med, 2023 Dec;46(4):1723-1739.
    PMID: 37870729 DOI: 10.1007/s13246-023-01332-6
    Assessment of the prosthetic gait is an important clinical approach to evaluate the quality and functionality of the prescribed lower limb prosthesis as well as to monitor rehabilitation progresses following limb amputation. Limited access to quantitative assessment tools generally affects the repeatability and consistency of prosthetic gait assessments in clinical practice. The rapidly developing wearable technology industry provides an alternative to objectively quantify prosthetic gait in the unconstrained environment. This study employs a neural network-based model in estimating three-dimensional body segmental orientation of the lower limb amputees during gait. Using a wearable system with inertial sensors attached to the lower limb segments, thirteen individuals with lower limb amputation performed two-minute walk tests on a robotic foot and a passive foot. The proposed model replicates features of a complementary filter to estimate drift free three-dimensional orientation of the intact and prosthetic limbs. The results indicate minimal estimation biases and high correlation, validating the ability of the proposed model to reproduce the properties of a complementary filter while avoiding the drawbacks, most notably in the transverse plane due to gravitational acceleration and magnetic disturbance. Results of this study also demonstrates the capability of the well-trained model to accurately estimate segmental orientation, regardless of amputation level, in different types of locomotion task.
  13. Li G, Wong TW, Shih B, Guo C, Wang L, Liu J, et al.
    Nat Commun, 2023 Nov 04;14(1):7097.
    PMID: 37925504 DOI: 10.1038/s41467-023-42882-3
    The deep ocean, Earth's untouched expanse, presents immense challenges for exploration due to its extreme pressure, temperature, and darkness. Unlike traditional marine robots that require specialized metallic vessels for protection, deep-sea species thrive without such cumbersome pressure-resistant designs. Their pressure-adaptive forms, unique propulsion methods, and advanced senses have inspired innovation in designing lightweight, compact soft machines. This perspective addresses challenges, recent strides, and design strategies for bioinspired deep-sea soft robots. Drawing from abyssal life, it explores the actuation, sensing, power, and pressure resilience of multifunctional deep-sea soft robots, offering game-changing solutions for profound exploration and operation in harsh conditions.
  14. Liu J, Zhu Y, Tan JK, Ismail AH, Ibrahim R, Hassan NH
    Nutrients, 2023 Oct 11;15(20).
    PMID: 37892411 DOI: 10.3390/nu15204335
    To investigate the factors associated with sarcopenia in elderly individuals residing in nursing homes and community settings, we conducted a systematic search of databases, including MEDLINE, EMBASE, PubMed, Web of Science and Cochrane, up to May 2023. We incorporated a total of 70 studies into our analysis. Our findings revealed that the prevalence of sarcopenia in nursing homes ranged from 25% to 73.7%, while in community settings, it varied from 5.2% to 62.7%. The factors associated with sarcopenia in both nursing homes and community settings included male gender, BMI, malnutrition, and osteoarthritis. In community settings, these factors comprised age, poor nutrition status, small calf circumference, smoking, physical inactivity, cognitive impairment, diabetes, depression and heart disease. Currently, both the European Working Group on Sarcopenia in Older People (EWGSOP) and the Asian Working Group for Sarcopenia (AWGS) standards are widely utilized in nursing homes and community settings, with the EWGSOP standard being more applicable to nursing homes. Identifying factors associated with sarcopenia is of paramount significance, particularly considering that some of them can be modified and managed. Further research is warranted to investigate the impact of preventive measures on these factors in the management of sarcopenia among elderly individuals residing in nursing homes and community settings.
  15. Feng S, Xie X, Liu J, Li A, Wang Q, Guo D, et al.
    J Nanobiotechnology, 2023 Oct 10;21(1):370.
    PMID: 37817254 DOI: 10.1186/s12951-023-02139-z
    Microalgae as the photosynthetic organisms offer enormous promise in a variety of industries, such as the generation of high-value byproducts, biofuels, pharmaceuticals, environmental remediation, and others. With the rapid advancement of gene editing technology, CRISPR/Cas system has evolved into an effective tool that revolutionised the genetic engineering of microalgae due to its robustness, high target specificity, and programmability. However, due to the lack of robust delivery system, the efficacy of gene editing is significantly impaired, limiting its application in microalgae. Nanomaterials have become a potential delivery platform for CRISPR/Cas systems due to their advantages of precise targeting, high stability, safety, and improved immune system. Notably, algal-mediated nanoparticles (AMNPs), especially the microalgae-derived nanoparticles, are appealing as a sustainable delivery platform because of their biocompatibility and low toxicity in a homologous relationship. In addition, living microalgae demonstrated effective and regulated distribution into specified areas as the biohybrid microrobots. This review extensively summarised the uses of CRISPR/Cas systems in microalgae and the recent developments of nanoparticle-based CRISPR/Cas delivery systems. A systematic description of the properties and uses of AMNPs, microalgae-derived nanoparticles, and microalgae microrobots has also been discussed. Finally, this review highlights the challenges and future research directions for the development of gene-edited microalgae.
  16. Liu J, He G, Zhang H, Yahya MM
    Gland Surg, 2023 Sep 25;12(9):1318-1325.
    PMID: 37842525 DOI: 10.21037/gs-23-5
    BACKGROUND: Breast preservation can considerably improve the postoperative living quality of breast cancer patients. Through this study, we proposed a novel, safe, and effective surgical modality for breast preservation in patients with early breast cancer.

    CASE DESCRIPTION: Herein, we present a case report of a patient with early-stage breast cancer (T1cN0M0), who underwent skin-sparing nipple areola hypodermic gland resection combined with primary breast reconstruction using silicone implants. The patient was administered with general anesthesia, and the implants were inserted using a insufflation-free suspension and hook suspension under the pectoralis major muscle. The patient was followed up on postoperative days 1, 2, 7, 14, 30, 60, and 100 to check for any complications, such as upper limb edema, paresthesia, or flap necrosis. The patient experienced no complications. No obvious surgical scars or axillary surface infections were observed. The patient was satisfied with the surgical outcome, and this treatment approach reduced her treatment costs by approximately USD 2,600.

    CONCLUSIONS: The new surgical procedure for breast reconstruction considerably improved the quality of life of the patient; no postoperative complications such as skin flap necrosis, paresthesia, or upper limb edema were experienced by the patient; and the treatment costs were reduced. In addition, this method effectively overcomes the concerns related to axillary space instability and limited operative space, rendering it worthy of promotion in clinical practice.

  17. Lian J, Lin D, Huang Y, Chen X, Chen L, Zhang F, et al.
    Chin Med, 2023 Sep 23;18(1):124.
    PMID: 37742025 DOI: 10.1186/s13020-023-00834-5
    Tumours do not exist in isolation from the organism; their growth, proliferation, motility, and immunosuppressive response are intricately connected to the tumour's microenvironment. As tumour cells and the microenvironment coevolve, an inflammatory microenvironment ensues, propelling the phenomenon of inflammation-cancer transformation-an idea proposed by modern medicine. This review aims to encapsulate the array of representative factors within the tumour's inflammatory microenvironment, such as interleukins (IL-6, IL-10, IL-17, IL-1β), transforming growth factor-beta (TGF-β), interferon-gamma (IFN-γ), tumour necrosis factor-alpha (TNF-α), vascular endothelial growth factor (VEGF), and matrix metalloproteinases (MMPs). Moreover, drawing upon research in traditional Chinese medicine (TCM) and pharmacology, we explore the delicate interplay between these factors and tumour-associated inflammatory cells: tumour-associated macrophages (TAMs), myeloid-derived suppressor cells (MDSCs), tumour-associated neutrophils (TANs) and dendritic cells (DCs). By analyzing the tumour-promoting effects of these entities, we delve into the connotations of Academician Tong Xiao-lin's novel model of "state-target differentiation" and its application in the diagnosis and treatment of tumours. Our aim is to enhance the precision and targeting of tumour treatment in clinical practice. Delving deeper into our understanding of tumour pathogenesis through the lens of modern medicine, we discern the key etiology and pathogenesis throughout the entire developmental stage of tumours, unveiling the evolutionary patterns of Chinese Medicine (CM) states: heat state → phlegm state → stagnation state → deficiency state. Building upon this foundation, we devised a state-regulating formula. Simultaneously, drawing on pharmacological research in traditional Chinese medicine (TCM), we meticulously identified a range of targeted drugs that effectively modulate the aforementioned tumour-related mediators. This comprehensive strategy-a harmonious integration of state identification, target recognition, and simultaneous regulation-aims to elevate clinical efficacy. The fusion of TCM with Western medicine in tumour treatment introduces novel dimensions to the precise and refined application of TCM in clinical practice.
  18. Geng X, Haig J, Lin B, Tian C, Zhu S, Cheng Z, et al.
    Environ Sci Technol, 2023 Sep 05;57(35):13067-13078.
    PMID: 37603309 DOI: 10.1021/acs.est.3c03481
    Aerosol black carbon (BC) is a short-lived climate pollutant. The poorly constrained provenance of tropical marine aerosol BC hinders the mechanistic understanding of extreme climate events and oceanic carbon cycling. Here, we collected PM2.5 samples during research cruise NORC2016-10 through South China Sea (SCS) and Northeast Indian Ocean (NEIO) and measured the dual-carbon isotope compositions (δ13C-Δ14C) of BC using hydrogen pyrolysis technique. Aerosol BC exhibits six different δ13C-Δ14C isotopic spaces (i.e., isotope provinces). Liquid fossil fuel combustion, from shipping emissions and adjacent land, is the predominant source of BC over isotope provinces "SCS close to Chinese Mainland" (53.5%), "Malacca Strait" (53.4%), and "Open NEIO" (40.7%). C3 biomass burning is the major contributor to BC over isotope provinces "NEIO close to Southeast Asia" (55.8%), "Open NEIO" (41.3%), and "Open SCS" (40.0%). Coal combustion and C4 biomass burning show higher contributions to BC over "Sunda Strait" and "Open SCS" than the others. Overall, NEIO near the Bay of Bengal, Malacca Strait, and north SCS are three hot spots of fossil fuel-derived BC; the first two areas are also hot spots of biomass-derived BC. The comparable δ13C-Δ14C between BC in aerosol and dissolved BC in surface seawater may suggest atmospheric BC deposition as a potential source of oceanic dissolved BC.
  19. Kaur M, Blair J, Devkota B, Fortunato S, Clark D, Lawrence A, et al.
    Am J Med Genet A, 2023 Aug;191(8):2113-2131.
    PMID: 37377026 DOI: 10.1002/ajmg.a.63247
    Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or "DTRs"). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.
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