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REVIEW
Ulrich Mrowietz, Felix Lauffer, Wiebke Sondermann, Sascha Gerdes, Philipp Sewerin
BACKGROUND: Psoriasis was long regarded as an inflammatory disease limited to the skin. Data from dermatologic, rheumatologic and cardiologic research now show it to be a systemic disease, for which the term psoriatic disease is used. METHODS: This paper is based on a selective literature search with special attention to the findings of clinical trials and other current publications, as well as the recommendations of international guidelines. RESULTS: Immunologically mediated inflammation of the skin, arteries, bones, and joints is a central feature of psoriatic disease...
June 28, 2024: Deutsches Ärzteblatt International
#2
JOURNAL ARTICLE
Yuta Ito, Amira Marouf, Yasunori Kogure, Junji Koya, Raphaël Liévin, Julie Bruneau, Mariko Tabata, Yuki Saito, Sumito Shingaki, Mitsuhiro Yuasa, Kentaro Yamaguchi, Koichi Murakami, Robert Weil, Manon Vavasseur, Guillaume P Andrieu, Mehdi Latiri, Layla Veleanu, Michaël Dussiot, Isabelle André, Akshay Joshi, Chantal Lagresle-Peyrou, Aude Magerus, Sammara Chaubard, David Lavergne, Emmanuel Bachy, Erika Brunet, Virginie Fataccioli, Chantal Brouzes, Camille Laurent, Laurence De Leval, Alexandra Traverse-Glehen, Céline Bossard, Marie-Cécile Parrens, Véronique Meignin, Laure Philippe, Julien Rossignol, Felipe Suarez, Jean-Marie Michot, Olivier Tournilhac, Gandhi Damaj, François Lemonnier, Christine Bôle-Feysot, Patrick Nitschké, Bruno Tesson, Cécile Laurent, Thierry Molina, Vahid Asnafi, Yosaku Watatani, Kenichi Chiba, Ai Okada, Yuichi Shiraishi, Sachiko Tsukita, Koji Izutsu, Hiroaki Miyoshi, Koichi Ohshima, Seiji Sakata, Akito Dobashi, Kengo Takeuchi, Masashi Sanada, Philippe Gaulard, Arnaud Jaccard, Seishi Ogawa, Olivier Hermine, Keisuke Kataoka, Lucile Couronné
Extranodal NK/T-cell lymphoma (ENKTCL) is an Epstein-Barr virus (EBV)-related neoplasm with male dominance and a poor prognosis. A better understanding of the genetic alterations and their functional roles in ENKTCL could help improve patient stratification and treatments. Here, we performed comprehensive genetic analysis of 177 ENKTCL cases to delineate the landscape of mutations, copy number alterations (CNAs), and structural variations, identifying 34 driver genes including six previously unappreciated ones, namely HLA-B, HLA-C, ROBO1, CD58, POT1, and MAP2K1...
April 24, 2024: Cancer Research
#3
JOURNAL ARTICLE
Lin Wang, Angkana T Huang, Leah C Katzelnick, Noémie Lefrancq, Ana Coello Escoto, Loréna Duret, Nayeem Chowdhury, Richard Jarman, Matthew A Conte, Irina Maljkovic Berry, Stefan Fernandez, Chonticha Klungthong, Butsaya Thaisomboonsuk, Piyarat Suntarattiwong, Warunee Vandepitte, Stephen S Whitehead, Simon Cauchemez, Derek A T Cummings, Henrik Salje
Many pathogens continuously change their protein structure in response to immune-driven selection, resulting in weakened protection even in previously exposed individuals. In addition, for some pathogens, such as dengue virus, poorly targeted immunity is associated with increased risk of severe disease through a mechanism known as antibody-dependent enhancement. However, it remains unclear whether the antigenic distances between an individual's first infection and subsequent exposures dictate disease risk, explaining the observed large-scale differences in dengue hospitalizations across years...
April 24, 2024: Science Translational Medicine
#4
COMPARATIVE STUDY
Xiang Lei, Xuewen Wang, Yongfeng Li, Huawei Liu, Guoqiang Yan, Jinzhu Jing, Zhen Liang, Anyi Guo, Min Hu, Yajun Liu
Although the knee joint (KNJ) and temporomandibular joint (TMJ) all belong to the synovial joint, there are many differences in developmental origin, joint structure and articular cartilage type. Studies of joint development in embryos have been performed, mainly using poultry and rodents. However, KNJ and TMJ in poultry and rodents differ from those in humans in several ways. Very little work has been done on the embryonic development of KNJ and TMJ in large mammals. Several studies have shown that pigs are ideal animals for embryonic development research...
November 2024: Animal Biotechnology
#5
JOURNAL ARTICLE
Jingang Xu, Zhi Zhang, Yupeng Wu, Bo Liu, Xiange Xia, Yunfeng Chen
Nitrous oxide (N2 O) generation during composting not only leads to losses of nitrogen (N) but also reduces the agronomic values and environmental benefits of composting. This study aimed to investigate the effect of the C/N ratio on N2 O emissions and its underlying mechanisms at the genetic level during the composting of vegetable waste. The experiment was set up with three treatments, including low C/N treatment (LT, C/N = 18), middle C/N treatment (MT, C/N = 30), and high C/N treatment (HT, C/N = 50)...
April 24, 2024: Environmental Science and Pollution Research International
#6
JOURNAL ARTICLE
Valentina Bernal-Durán, David Donoso, Andrea Piñones, Per R Jonsson, Laura Benestan, Mauricio F Landaeta, Javier Naretto, Karin Gerard, Pilar A Haye, Claudio Gonzalez-Wevar, Elie Poulin, Nicolás I Segovia
Connectivity is a fundamental process of population dynamics in marine ecosystems. In the last decade, with the emergence of new methods, combining different approaches to understand the patterns of connectivity among populations and their regulation has become increasingly feasible. The Western Antarctic Peninsula (WAP) is characterized by complex oceanographic dynamics, where local conditions could act as barriers to population connectivity. Here, the notothenioid fish Harpagifer antarcticus, a demersal species with a complex life cycle (adults with poor swim capabilities and pelagic larvae), was used to assess connectivity along the WAP by combining biophysical modelling and population genomics methods...
April 24, 2024: Molecular Ecology
#7
JOURNAL ARTICLE
Elizabeth C Hendrickson, Mitchell B Cruzan
Effective dispersal among plant populations is dependent on vector behaviour, landscape features and availability of adequate habitats. To capture landscape feature effects on dispersal, studies must be conducted at scales reflecting single-generation dispersal events (mesoscale). Many studies are conducted at large scales where genetic differentiation is due to dispersal occurring over multiple generations, making it difficult to interpret the effects of specific landscape features on vector behaviour. Genetic structure at the mesoscale may be determined by ecological and evolutionary processes, such as the consequences of vector behaviour on patterns of gene flow...
April 24, 2024: Molecular Ecology
#8
JOURNAL ARTICLE
Dashzeveg Oyuntsetseg, Nudkhuu Nyamgerel, Shukherdorj Baasanmunkh, Batlai Oyuntsetseg, Magsar Urgamal, Jung Won Yoon, Gun-Aajav Bayarmaa, Hyeok Jae Choi
BACKGROUND: Swertia banzragczii and S. marginata are important medicinal species in Mongolia. However, their taxonomic positions and genetic backgrounds remain unknown. In this study, we explored the complete chloroplast genomes and DNA barcoding of these species and compared them with those of closely related species within the subgenus to determine their taxonomic positions and phylogenetic relationships. RESULT: The chloroplast genomes of S. banzragczii and S...
April 24, 2024: Botanical Studies (Taipei, Taiwan)
#9
JOURNAL ARTICLE
Bohui Han, Xiao Wang, Yangyang Sun, Xilu Kang, Meng Zhang, Jiawen Luo, Haiming Han, Shenghui Zhou, Yuqing Lu, Weihua Liu, Xinming Yang, Xiuquan Li, Jinpeng Zhang, Lihui Li
We developed T1AL·1PS and T1AS·1PL Robertsonian translocations by breakage-fusion mechanism based on wheat-A. cristatum 1P(1A) substitution line with smaller leaf area, shorter plant height, and other excellent agronomic traits Agropyron cristatum, a wild relative of wheat, is a valuable germplasm resource for improving wheat genetic diversity and yield. Our previous study confirmed that the A. cristatum chromosome 1P carries alien genes that reduce plant height and leaf size in wheat. Here, we developed T1AL·1PS and T1AS·1PL Robertsonian translocations (RobTs) by breakage-fusion mechanism based on wheat-A...
April 24, 2024: TAG. Theoretical and Applied Genetics. Theoretische und Angewandte Genetik
#10
JOURNAL ARTICLE
Run Cui, Hao Duan, Wanming Hu, Chang Li, Sheng Zhong, Lun Liang, Siyu Chen, Hongrong Hu, Zhenqiang He, Zhenning Wang, Xiaoyu Guo, Zexin Chen, Cong Xu, Yu Zhu, Yinsheng Chen, Ke Sai, Qunying Yang, Chengcheng Guo, Yonggao Mou, Xiaobing Jiang
CONTEXT: Precision medicine for pituitary neuroendocrine tumors (PitNETs) is limited by the lack of reliable research models. OBJECTIVE: To generate patient-derived organoids (PDOs), which could serve as a platform for personalized drug screening for PitNET patients. DESIGN: From July 2019 to May 2022, a total of 32 human PitNET specimens were collected for the establishment of organoids with an optimized culture protocol. SETTING: This study was conducted at Sun Yat-Sen University Cancer Center...
April 24, 2024: Journal of Clinical Endocrinology and Metabolism
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JOURNAL ARTICLE
Can Hu, Xue-Ting Zhu, Ming-Hong He, Yangyang Shao, Zhongjun Qin, Zhi-Jing Wu, Jin-Qiu Zhou
Telomeres, which are chromosomal end structures, play a crucial role in maintaining genome stability and integrity in eukaryotes. In the baker's yeast Saccharomyces cerevisiae , the X- and Y'-elements are subtelomeric repetitive sequences found in all 32 and 17 telomeres, respectively. While the Y'-elements serve as a backup for telomere functions in cells lacking telomerase, the function of the X-elements remains unclear. This study utilized the S. cerevisiae strain SY12, which has three chromosomes and six telomeres, to investigate the role of X-elements (as well as Y'-elements) in telomere maintenance...
April 24, 2024: ELife
#12
JOURNAL ARTICLE
Thuy T M Ngo, Bailey Liu, Feng Wang, Aakash Basu, Carl Wu, Taekjip Ha
The organization of nucleosomes into chromatin and their accessibility are shaped by local DNA mechanics. Conversely, nucleosome positions shape genetic variations, which may originate from mismatches during replication and chemical modification of DNA. To investigate how DNA mismatches affect the mechanical stability and the exposure of nucleosomal DNA, we used an optical trap combined with single-molecule FRET and a single-molecule FRET cyclization assay. We found that a single base-pair C-C mismatch enhances DNA bendability and nucleosome mechanical stability for the 601-nucleosome positioning sequence...
April 24, 2024: ELife
#13
REVIEW
Lindsey Vogt, Vicente Quiroz, Darius Ebrahimi-Fakhari
PURPOSE OF REVIEW: We highlight novel and emerging therapies in the treatment of childhood-onset movement disorders. We structured this review by therapeutic entity (small molecule drugs, RNA-targeted therapeutics, gene replacement therapy, and neuromodulation), recognizing that there are two main approaches to treatment: symptomatic (based on phenomenology) and molecular mechanism-based therapy or 'precision medicine' (which is disease-modifying). RECENT FINDINGS: We highlight reports of new small molecule drugs for Tourette syndrome, Friedreich's ataxia and Rett syndrome...
June 1, 2024: Current Opinion in Pediatrics
#14
JOURNAL ARTICLE
Lindsey Vogt, Vicente Quiroz, Darius Ebrahimi-Fakhari
PURPOSE OF REVIEW: We highlight novel and emerging therapies in the treatment of childhood-onset movement disorders. We structured this review by therapeutic entity (small molecule drugs, RNA-targeted therapeutics, gene replacement therapy, and neuromodulation), recognizing that there are two main approaches to treatment: symptomatic (based on phenomenology) and molecular mechanism-based therapy or 'precision medicine' (which is disease-modifying). RECENT FINDINGS: We highlight reports of new small molecule drugs for Tourette syndrome, Friedreich's ataxia and Rett syndrome...
April 5, 2024: Current Opinion in Pediatrics
#15
JOURNAL ARTICLE
Yuxi Chen, Jiang Long, Sixian Wu, Yazhen Wei, Fei Yan, Qing Li, Jierui Yan, Nannan Zhang, Wenming Xu
SLC45A1 encodes a glucose transporter protein highly expressed in the brain. Mutations in SLC45A1 may lead to neurological diseases and developmental disorders, but its exact role is poorly understood. DNA G-quadruplexes (DNA G4s) are stable structures formed by four guanine bases and play a role in gene regulation and genomic stability. Changes in DNA G4s may affect brain development and function. The mechanism linking alterations in DNA G-quadruplex structures to SLC45A1 pathogenicity remains unknown. In this study, we identify a functional DNA G-quadruplex and its key binding site on SLC45A1 (NM_001080397...
April 24, 2024: Acta Biochimica et Biophysica Sinica
#16
JOURNAL ARTICLE
Amanda Polanski, April Hall, Catherine Reiser, Katherine Uttal, Ashley Kuhl
Leadership is emerging as an important component of health professional training. This study aimed to characterize current leadership development in accredited genetic counseling programs. Semi-structured interviews with program leadership were conducted to explore their program's leadership curricula and their perspectives on the meaning of leadership and its place in genetic counseling training. Eleven interviews were conducted and focused on seven categories related to study goals. Using the Framework Method, themes were generated within the predefined categories...
April 24, 2024: Journal of Genetic Counseling
#17
REVIEW
Sale Wandara Wana
This working paper reviews the research and development in genetic improvement and breeding strategies of Bonga, Menz, Afar and Horro sheep in Ethiopia. This review aims to provide structured information regarding the Ethiopian indigenous sheep breeds (Bonga, Afar, Menz, and Horro) breeding programs and its progress. Genetic diversity is an essential element for genetic improvement, preserving populations, evaluation and adapting to variable environmental situations. Sustainable breeding techniques and sensible use of indigenous breed have been developed as result of recent research approaches to the conservation of sheep genetic resources...
April 30, 2024: Heliyon
#18
JOURNAL ARTICLE
Yuqi Shao, Saisai Yang, Jiafu Li, Lin Cheng, Jiawei Kang, Juan Liu, Jianhong Ma, Jie Duan, Yuanzhen Zhang
Objective: The article aims to provide genetic counseling to a family with two children who were experiencing growth and developmental delays. Methods: Clinical information of the proband was collected. Peripheral blood was collected from core family members to identify the initial reason for growth and developmental delays by whole exome sequencing (WES) and Sanger sequencing. To ascertain the consequences of the newly discovered variants, details of the variants detected were analyzed by bioinformatic tools...
2024: Frontiers in Genetics
#19
JOURNAL ARTICLE
Jing Pan, Zeliang Ju, Xiang Ma, Lianxue Duan, Zhifeng Jia
The TCP gene family members play multiple functions in plant growth and development and were named after the first three family members found in this family, TB1 (TEOSINTE BRANCHED 1), CYCLOIDEA (CYC), and Proliferating Cell Factor 1/2 (PCF1/2). Nitrogen (N) is a crucial element for forage yield; however, over-application of N fertilizer can increase agricultural production costs and environmental stress. Therefore, the discovery of low N tolerance genes is essential for the genetic improvement of superior oat germplasm and ecological protection...
2024: Frontiers in Plant Science
#20
JOURNAL ARTICLE
Charlotte Hewel, Hanno Schmidt, Stefan Runkel, Wolfgang Kohnen, Susann Schweiger-Seemann, André Michel, Sven-Ernö Bikar, Bettina Lieb, Bodo Plachter, Thomas Hankeln, Matthias Linke, Susanne Gerber
In 2022, a series of human monkeypox cases in multiple countries led to the largest and most widespread outbreak outside the known endemic areas. Setup of proper genomic surveillance is of utmost importance to control such outbreaks. To this end, we performed Nanopore (PromethION P24) and Illumina (NextSeq. 2000) Whole Genome Sequencing (WGS) of a monkeypox sample. Adaptive sampling was applied for in silico depletion of the human host genome, allowing for the enrichment of low abundance viral DNA without a priori knowledge of sample composition...
May 2024: Journal of Medical Virology
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