A rare clinical presentation of dermatitis herpetiformis with blisters principally on elbows: a report of three female cases by Magdalena Jałowska, Bogusz Falkowski, Maciej Spałek, Michał Owczarek, Justyna Gornowicz-Porowska, Monika Bowszyc-Dmochowska, Maria Raptis-Bolwach, Marian Dmochowski

“…To raise awareness among practitioners of the diversity of clinical phenotypes of dermatitis herpetiformis in this article we describe three females with a rare clinical presentation of dermatitis herpetiformis characterized by blisters right on the elbows. …”
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Medullary Sponge Kidney and Testicular Dysgenesis Syndrome: A Rare Association by Stefano Masciovecchio, Pietro Saldutto, Giuseppe Paradiso Galatioto, Carlo Vicentini

“…A question still remains unanswered: are the MSK and TDS completely independent malformation syndromes occurring, in this case, simultaneously for a rare event or are they different phenotypic expressions of a common malformative mechanism? …”
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Consensus of Chinese Experts on the Diagnosis and Treatment of Type Ⅰ Interferonopathy by Chinese Alliance of Pediatric Rheumatic & Immunologic Diseases, Chinese Pharmacists Association Rare Diseases Medication Working Committee

“…Due to the broad spectrum of clinical phenotypes associated with this condition, early identification remains challenging. …”
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Duchenne muscular dystrophy: recent insights in brain related comorbidities by Cyrille Vaillend, Yoshitsugu Aoki, Eugenio Mercuri, Jos Hendriksen, Konstantina Tetorou, Aurelie Goyenvalle, Francesco Muntoni

“…Dystrophic mouse models exhibit similar phenotypes, where genetic therapies restoring brain dystrophins improve their behaviour. …”
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Placental Implications of Peroxisome Proliferator-Activated Receptors in Gestation and Parturition by Valerie Borel, Denis Gallot, Geoffroy Marceau, Vincent Sapin, Loïc Blanchon

“….), mouse PPARs knockout phenotypes, and cytotrophoblast physiology. In this review, we describe the placental involvement of PPARs (e.g., fat transport and metabolism, etc.) during the late stages of gestation and in the amniotic membranes, highlighting their roles in the inflammation process (e.g., chorioamnionitis), metabolic disorders (e.g., diabetes), and parturition.…”
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PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease by Sharon Cresci

“…Numerous pharmacologic studies have assessed the effects of specific PPAR agonists in clinical trials and have provided insight into the clinical effects of these genes while genetic studies have demonstrated clinical associations between PPAR polymorphisms and abnormal cardiovascular phenotypes. With the abundance of data available from these studies as a background, PPAR pharmacogenetics has become a promising and rapidly advancing field. …”
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Identification of Novel Causal FBN1 Mutations in Pedigrees of Marfan Syndrome by Yueli Wang, Xiaoyan Li, Rongjuan Li, Ya Yang, Jie Du

“…Patients with different FBN1 mutations often present more considerable phenotypic variation. In the present study, three affected MFS pedigrees were collected for genetic analysis. …”
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Images du corps nikkei à São Paulo by Helena Prado

“…By considering a few common expressions from popular language and by examining recorded discourse, it aims to analyse what is presented as obvious: the body designated as “Japanese” in Brazil, one that is foreign, different and excluded from the body representations at work in the “national myth”.It will therefore be a matter of identifying the phenotypical markers at play, and showing what directly follows from them, namely a series of representations “naturally” associated with the Nikkei ethnicity, having to do with norms of aesthetics and social behaviour, with moral and intellectual values, and with collective and individual practices expected from Japanese Brazilians.…”
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Metastasis of Uterine Leiomyosarcoma to the Breast: Medical and Histopathological Criteria by Eugenia Colón

“…We discuss the importance of distinguishing between various primary mesenchymal tumors of the breast because of phenotypic overlap and some guidance of the histological criteria for metastasis of leiomyosarcoma, as well as differential diagnosis and surgical treatment.…”
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Functional assessment of the glycoproteins of a novel Hendra virus variant reveals contrasting fusogenic capacities of the receptor-binding and fusion glycoproteins by Andrew Z. Ma, Yao Yu Yeo, Jean F. Lee, Colin M. Kim, Shahrzad Ezzatpour, Carolina Menchaca, Viraj Upadhye, Edward J. Annand, John-Sebastian Eden, Raina K. Plowright, Alison J. Peel, David W. Buchholz, Hector C. Aguilar

“…Our data indicate that HeV-g2 glycoproteins have fusion phenotypes closely related to those of NiV and that fusion promotion may be a crucial factor driving the emergence of new henipaviral variants.…”
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Antibiotic Resistance of Enterobacteriaceae in Microbiomes Associated with Poultry Farming by Anna S. Krivonogova, Irina M. Donnik, Albina G. Isaeva, Egor A. Loginov, Maxim V. Petropavlovskiy, Elisey N. Bespamyatnykh

“…Litter samples from both experimental and control groups demonstrated K. pneumoniae with severe phenotypic resistance to ciprofloxacin, as well as blaDHA genes. …”
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Blue sclerae and their association with glaucoma (a review and case report) by T.A. Beletskaya, E.V. Kozina, D.V. Dmitrenko, Yu.I. Gavrilova

“…The combination of osteogenesis imperfecta type 1 and primary open-angle glaucoma is a novel phenotypic association. The most effective way of controlling intraocular pressure (IOP) in this condition is surgical intervention. …”
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Characteristics of virulence of Puccinia triticina populations and the potential of the Lr24, Lr25, LrSp genes for spring common wheat breeding in the Southern Ural by V. A. Tyunin, E. R. Shreyder, E. I. Gultyaeva, E. L. Shaydayuk

“…According to the Nei index (N), no significant differences in virulence were revealed between Chelyabinsk populations in 2014–2016. 27 virulence phenotypes were determined using 20 TcLr-lines. The phenotypes TQTTR and TGTTR avirulent to lines ТсLr19, ТсLr24, ТсLr26 and ТсLr9, ТсLr19, ТсLr24, ТсLr26, respectively, were common in 2014–2016. …”
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Improving prenatal diagnosis with combined karyotyping, CNV-seq and QF-PCR: a comprehensive analysis of chromosomal abnormalities in high-risk pregnancies by Jia-pei Liu, Shan-Bing Wang, Li Luo, Ya-mei Guo

“…Notably, neonates carrying pathogenic CNVs inherited from asymptomatic parents demonstrated normal phenotypes.ConclusionThe integration of karyotyping, CNV-seq, and QF-PCR provides superior diagnostic yield compared to individual testing strategies in high-risk pregnancies. …”
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Morphological and molecular analysis of rose cultivars from the Grandiflora and Kordesii garden groups by S. S. Yudanova, O. V. Dorogina, O. Yu. Vasilyeva

“…The objectives of the study were to determine the genetic relationship within the groups and to assign phenotypically different cultivars to one or another garden group. …”
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Assessing molecular changes underlying isopropylated phenyl phosphate (IPP)-induced larval sensorimotor response deficits in zebrafish by Sunil Sharma, Alfredo Rojas, Abhishek Gour, Rosemaria Serradimigni, Connor Leong, Abhisheak Sharma, Subham Dasgupta

“…Notably, these impacts occur at concentrations within environmental relevance where overt toxic morphological phenotypes are not recorded. Future work will focus on understanding the contribution of these molecular targets to behavioral phenotypes.…”
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Gene Mining and Genetic Effect Analysis Reveal Novel Loci, <i>TaZn-2DS</i> Associated with Zinc Content in Wheat Grain by Zhuangzhuang Hong, Zhankui Zeng, Jiaojiao Li, Xuefang Yan, Junqiao Song, Qunxiang Yan, Qiong Li, Yue Zhao, Chang Liu, Xueyan Jing, Chunping Wang

“…Among them, <i>QGZn.haust-AH-2D</i> was detected in multiple environments, accounting for 5.61% to 11.27% of the phenotypic variation with a physical interval of 13.62 Mb to 17.82 Mb. …”
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The Effects of Immunosuppressive Factors on Primary Dendritic Cells from C57BL/6 and CBA Mice by Vasiliy V. Kurilin, Julia N. Khantakova, Valeriy P. Tereschenko, Julia A. Lopatnikova, Irina A. Obleukhova, Sergey V. Sennikov

“…In this study, we evaluated the effects of different immunosuppressive molecules on the phenotypic and functional characteristics of primary dendritic cells from C57BL/6 and CBA mice. …”
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Genetic variability and characters association for yield, yield attributing traits and protein content of lentil (Lens Culinaris Medikus) genotype in Ethiopia by Emebet Takele, Firew Mekbib, Fikru Mekonnen

“…A positive and significant correlations was observed in phenotypic and genotypic levels of seed yield and above-ground biomass (r = 0.90, 0.93), number of seed per pods (r = 0.79, 0.85), number of pods per plant (r = 0.52, 0.64), plant height (r = 0.49, 0.55), harvest index (r = 0.38, 0.45), secondary branches (r = 0.48, 0.56) and protein content (r = 0.24, 0.26), respectively. …”
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PAK5 Induces EMT and Promotes Cell Migration and Invasion by Activating the PI3K/AKT Pathway in Ovarian Cancer by Diyou Li, Yinglin Pan, Yating Huang, Ping Zhang, Xuhong Fang

“…Knockdown of PAK5 in SKOV3 cells caused epithelial cell phenotypes, whereas overexpression of PAK5 led to remarkable mesenchymal cell phenotypes in A2780 cells. …”
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