Identification of a novel heterozygous GPD1 missense variant in a Chinese adult patient with recurrent HTG-AP consuming a high-fat diet and heavy smoking by Xiao-Yao Li, Bei-Yuan Zhang, Xin-Ran Liang, Yan-Yu Han, Min-Hua Cheng, Mei Wei, Ke Cao, Xian-Cheng Chen, Ming Chen, Jian-Feng Duan, Wen-Kui Yu

“…Finally, the previously reported GPD1 variants were sorted and their phenotypic relationships were compared. Results A novel heterozygous variant of GPD1, p.K327N (c.981G > C), was found in the proband. …”
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Researching COVID to enhance recovery (RECOVER) pediatric study protocol: Rationale, objectives and design. by Rachel S Gross, Tanayott Thaweethai, Erika B Rosenzweig, James Chan, Lori B Chibnik, Mine S Cicek, Amy J Elliott, Valerie J Flaherman, Andrea S Foulkes, Margot Gage Witvliet, Richard Gallagher, Maria Laura Gennaro, Terry L Jernigan, Elizabeth W Karlson, Stuart D Katz, Patricia A Kinser, Lawrence C Kleinman, Michelle F Lamendola-Essel, Joshua D Milner, Sindhu Mohandas, Praveen C Mudumbi, Jane W Newburger, Kyung E Rhee, Amy L Salisbury, Jessica N Snowden, Cheryl R Stein, Melissa S Stockwell, Kelan G Tantisira, Moriah E Thomason, Dongngan T Truong, David Warburton, John C Wood, Shifa Ahmed, Almary Akerlundh, Akram N Alshawabkeh, Brett R Anderson, Judy L Aschner, Andrew M Atz, Robin L Aupperle, Fiona C Baker, Venkataraman Balaraman, Dithi Banerjee, Deanna M Barch, Arielle Baskin-Sommers, Sultana Bhuiyan, Marie-Abele C Bind, Amanda L Bogie, Tamara Bradford, Natalie C Buchbinder, Elliott Bueler, Hülya Bükülmez, B J Casey, Linda Chang, Maryanne Chrisant, Duncan B Clark, Rebecca G Clifton, Katharine N Clouser, Lesley Cottrell, Kelly Cowan, Viren D'Sa, Mirella Dapretto, Soham Dasgupta, Walter Dehority, Audrey Dionne, Kirsten B Dummer, Matthew D Elias, Shari Esquenazi-Karonika, Danielle N Evans, E Vincent S Faustino, Alexander G Fiks, Daniel Forsha, John J Foxe, Naomi P Friedman, Greta Fry, Sunanda Gaur, Dylan G Gee, Kevin M Gray, Stephanie Handler, Ashraf S Harahsheh, Keren Hasbani, Andrew C Heath, Camden Hebson, Mary M Heitzeg, Christina M Hester, Sophia Hill, Laura Hobart-Porter, Travis K F Hong, Carol R Horowitz, Daniel S Hsia, Matthew Huentelman, Kathy D Hummel, Katherine Irby, Joanna Jacobus, Vanessa L Jacoby, Pei-Ni Jone, David C Kaelber, Tyler J Kasmarcak, Matthew J Kluko, Jessica S Kosut, Angela R Laird, Jeremy Landeo-Gutierrez, Sean M Lang, Christine L Larson, Peter Paul C Lim, Krista M Lisdahl, Brian W McCrindle, Russell J McCulloh, Kimberly McHugh, Alan L Mendelsohn, Torri D Metz, Julie Miller, Elizabeth C Mitchell, Lerraughn M Morgan, Eva M Müller-Oehring, Erica R Nahin, Michael C Neale, Manette Ness-Cochinwala, Sheila M Nolan, Carlos R Oliveira, Onyekachukwu Osakwe, Matthew E Oster, R Mark Payne, Michael A Portman, Hengameh Raissy, Isabelle G Randall, Suchitra Rao, Harrison T Reeder, Johana M Rosas, Mark W Russell, Arash A Sabati, Yamuna Sanil, Alice I Sato, Michael S Schechter, Rangaraj Selvarangan, S Kristen Sexson Tejtel, Divya Shakti, Kavita Sharma, Lindsay M Squeglia, Shubika Srivastava, Michelle D Stevenson, Jacqueline Szmuszkovicz, Maria M Talavera-Barber, Ronald J Teufel, Deepika Thacker, Felicia Trachtenberg, Mmekom M Udosen, Megan R Warner, Sara E Watson, Alan Werzberger, Jordan C Weyer, Marion J Wood, H Shonna Yin, William T Zempsky, Emily Zimmerman, Benard P Dreyer, RECOVER-Pediatric Consortium

“…The de novo cohort incorporates three tiers of data collection: 1) remote baseline assessments (Tier 1, n = 6000); 2) longitudinal follow-up for up to 4 years (Tier 2, n = 6000); and 3) a subset of participants, primarily the most severely affected by PASC, who will undergo deep phenotyping to explore PASC pathophysiology (Tier 3, n = 600). …”
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Pseudovibriamides from Pseudovibrio marine sponge bacteria promote flagellar motility via transcriptional modulation by Yitao Dai, Vitor Lourenzon, Laura P. Ióca, Dua Al-Smadi, Lydia Arnold, Ian McIntire, Roberto G. S. Berlinck, Alessandra S. Eustáquio

“…Thus, this work gives insights into pseudovibriamide biosynthesis and provides evidence that they are signaling molecules relevant to bacterial motility and to other yet-to-be-identified phenotypes.…”
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Activated CD27+PD-1+ CD8 T Cells and CD4 T Regulatory Cells Dominate the Tumor Microenvironment in Refractory Celiac Disease Type II by Tessa Dieckman, Mette Schreurs, Ciska Lindelauf, Ahmed Mahfouz, Caroline R. Meijer, Louise Pigeaud, Vincent van Unen, Gerd Bouma, Frits Koning

“…We performed single-cell RNA-sequencing on CD45+ duodenal cells derived from a RCDII patient, immunofluorescence staining for in situ analysis and flow cytometry for phenotyping of RCDII aberrant and CD8 T cells. Results: Compared to healthy controls, we observed that CD27+PD-1+ memory CD8αβ cells and CD4 T regulatories (Tregs) were more abundant in RCDII duodenum (CD8 ∗∗0.0029; CD4 ∗∗∗0.0001). …”
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The m6A modification regulates the composition of myofiber types in chicken skeletal muscle by Yanju Shan, Yifan Liu, Ming Zhang, Lichuan Pang, Gaige Ji, Xiaojun Ju, Yunjie Tu, Jingting Shu

“…To investigate the post-transcriptional modification underlying the myofiber type diversity in chicken skeletal muscle, we evaluated the m6A methylation levels of chicken skeletal muscles with different phenotypic traits, and profiled a transcriptome-wide m6A map in the oxidative and glycolytic skeletal muscles by methylated RNA immunoprecipitation sequencing (MeRIP-seq). …”
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Preliminary study assessing the long-term surgical outcomes of TBX6-associated congenital scoliosis (TACS) patients using the propensity score matching method: exploring the clinic... by Guanfeng Lin, Yang Yang, Zefu Chen, Sen Zhao, Yuchen Niu, You Du, Yiwei Zhao, Shengru Wang, Nan Wu, Jianguo Zhang

“…TACS has been reported to have certain common clinical phenotypes. However, whether the surgical outcomes of TACS patients differ from those of other CS patients remains unclear. …”
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AI-based analysis of fetal growth restriction in a prospective obstetric cohort quantifies compound risks for perinatal morbidity and mortality and identifies previously unrecogniz... by Raquel M. Zimmerman, Edgar J. Hernandez, Mark Yandell, Martin Tristani-Firouzi, Robert M. Silver, William Grobman, David Haas, George Saade, Jonathan Steller, Nathan R. Blue

“…Our objective was to use data from a large, deeply phenotyped observational obstetric cohort to develop a probabilistic graphical model (PGM), a type of “explainable artificial intelligence (AI)”, as a potential framework to better understand how interrelated variables contribute to perinatal morbidity risk in FGR. …”
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Semaphorin-4D signaling in recruiting dental stem cells for vascular stabilization by Lili Zhang, Dineshi Sewvandi Thalakiriyawa, Jiawei Liu, Shengyan Yang, Yan Wang, Waruna Lakmal Dissanayaka

“…Additionally, we investigated the secretion of Sema4D by various macrophage phenotypes, identifying that M2c macrophages secrete significant levels of Sema4D. …”
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Stimulation of DC-CIK with PADI4 Protein Can Significantly Elevate the Therapeutic Efficiency in Esophageal Cancer by Chunyan Liu, Yingying Zheng, Junyi Tang, Dawei Wang, Zhenshen Ma, Shutong Li, Xiaotian Chang

“…Lysate from PADI4-overexpressing cells or the purified recombinant PADI4 protein was used to load DCs, and the cells were then coincubated with CIK cells. DC and CIK cell phenotypes were determined using flow cytometry. The proliferation and viability of CIK cells were analyzed using trypan blue staining. …”
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Systematic review and quantitative meta-analysis of age-dependent human T-lymphocyte homeostasis by Victoria Kulesh, Victoria Kulesh, Kirill Peskov, Kirill Peskov, Kirill Peskov, Gabriel Helmlinger, Gennady Bocharov, Gennady Bocharov, Gennady Bocharov

“…Both individual subject and grouped (aggregated) data on T-lymphocyte observations in absolute and relative values were digitized and curated; cell phenotypes, gating strategies for flow cytometry analyses, organs from which observations were obtained, subjects’ number and age were also systematically inventoried. …”
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Radiogenomics and machine learning predict oncogenic signaling pathways in glioblastoma by Abdul Basit Ahanger, Syed Wajid Aalam, Tariq Ahmad Masoodi, Asma Shah, Meraj Alam Khan, Ajaz A. Bhat, Assif Assad, Muzafar Ahmad Macha, Muzafar Rasool Bhat

“…Disruptions in various oncogenic signaling pathways, such as Receptor Tyrosine Kinase (RTK)-Ras-Extracellular signal-regulated kinase (ERK) signaling, Phosphoinositide 3- Kinases (PI3Ks), tumor protein p53 (TP53), and Neurogenic locus notch homolog protein (NOTCH), contribute to the development of different tumor types, each exhibiting distinct morphological and phenotypic features that can be observed at a microscopic level. …”
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Buffalo genetic improvement program in Vene- zuela by José A. Aranguren-Méndez, Rafael M. Román-Bravo, Ricardo A. Briceño-Rojas, Mauricio G. Briceño-Rojas, Luis A. Pacheco-Díaz

“…It is an integral part of most breeding programs based on two fundamental pillars: phenotypic data (milk production, fat, protein, or morphological traits) and genealogical information (through the availability of a pedigree). …”
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Water homeostasis gene expression in the kidney of broilers divergently selected for water conversion ratio by Kentu Lassiter, Loujain Aloui, Elizabeth S. Greene, Marciela Maqaeda, Travis Tabler, Sami Dridi, Robert F. Wideman, Jr., Sara Orlowski, Walter G. Bottje

“…In Exp. 1, male and female HWE and LWE broilers were individually phenotyped between 4 and 6 wks of age to determine growth performance and water conversion ratio (g water intake/g body weight gain). …”
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Understanding phage BX-1 resistance in Vibrio alginolyticus AP-1 and the role of quorum-sensing regulation by Xiaoyu Li, Xin Liu, Tianyi Ma, Haochen Su, Bingrui Sui, Lili Wang, Bilal Murtaza, Yongping Xu, Na Li, Demeng Tan

“…However, its application is hindered by a limited understanding of the genotypic and phenotypic dynamics governing phage-host interactions. …”
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Clinical, genomic, and histopathologic diversity in cerebral cavernous malformations by Jian Ren, Daochao Wang, Leiming Wang, Chendan Jiang, An Tian, Ziwei Cui, Yeqing Ren, Lisong Bian, Gao Zeng, Guolu Meng, Yongzhi Shan, Jiantao Liang, Xinru Xiao, Jie Tang, Yukui Wei, Chuan He, Liyong Sun, Yongjie Ma, Jiaxing Yu, Guilin Li, Ming Ye, Peng Hu, Jingwei Li, Ye Li, Lijian Niu, Qianwen Li, Feng Ling, Jan-Karl Burkhardt, Hongqi Zhang, Tao Hong

“…We analyzed 290 surgical specimens from symptomatic CCM patients, utilizing whole-exome sequencing, droplet digital PCR, and targeted panel sequencing, alongside immunohistology to examine genotypic and phenotypic differences. Among 290 cases, 201 had somatic MAP3K3, PIK3CA, or germline CCM mutations, each associated with distinct clinical parameters: hemorrhage risk (P < 0.001), lesion size (P = 0.019), non-hemorrhagic epilepsy (P < 0.001), Zabramski classifications (P < 0.001), developmental venous anomaly presence (P < 0.001), and MRI-detected edema (P < 0.001). …”
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Profile of the grain physical traits and physicochemical properties of selected Malaysian rice landraces for future use in a breeding program by Site Noorzuraini Abd Rahman, Rosimah Nulit, Faridah Qamaruz Zaman, Khairun Hisam Nasir, Mohd Hafiz Ibrahim, Mohd Ramdzan Othman, Nur Idayu Abd Rahim, Nor Sufiah Sebaweh

“…The gel consistency exhibited the highest phenotypic and genotypic coefficient of variance, with values of 42.44% and 41.88%, respectively. …”
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High Ki67 expression, HER2 overexpression, and low progesterone receptor levels in high-grade DCIS: significant associations with clinical practice implications by Hossein Schandiz, Hossein Schandiz, Lorant Farkas, Lorant Farkas, Daehoon Park, Yan Liu, Yan Liu, Solveig N. Andersen, Torill Sauer, Jürgen Geisler, Jürgen Geisler

“…Through rigorous analysis of histopathological and immunopathological samples from a substantial cohort, this study revealed robust correlations between heightened Ki67 expression, diminished progesterone (PR) levels, and HER2 overexpression, indicative of aggressive DCIS phenotypes. These findings offer novel insights into the surrogate immunomolecular subtyping landscape of DCIS, potentially refining risk stratification and therapeutic approaches. …”
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The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome projectResearch in context by Wai Kei Jacky Lam, Chak Sing Lau, Ho Ming Luk, Lisa Wing Chi Au, Gary C.P. Chan, Will Yap Hang Chan, Shirley Sze Wing Cheng, Timothy Hua Tse Cheng, Li Li Cheung, Yiu Fai Cheung, Josephine Shuk Ching Chong, Annie Tsz Wai Chu, Claudia Ching Yan Chung, Kin Lai Chung, Cheuk Wing Fung, Eva Lai Wah Fung, Yuan Gao, Stephanie Ho, Shirley Pik Ying Hue, Chi-Ho Lee, Tsz Leung Lee, Philip Hei Li, Hei Man Lo, Ivan Fai Man Lo, Herbert Ho Fung Loong, Becky Mingyao Ma, Wei Ma, Shirley Yin Yu Pang, Wai-Kay Seto, Steven Wai Kwan Siu, Ho So, Yuk Him Tam, Wenshu Tang, Rosanna Ming Sum Wong, Desmond Yat Hin Yap, Maggie Lo Yee Yau, Brian Hon Yin Chung, Su-Vui Lo

“…All participants received srGS, while lrGS was applied to a subset to resolve technically challenging regions unclear from srGS and provide phasing information for potential compound heterozygous variants. A phenotypic-driven diagnostic workflow was implemented to filter and prioritise rare and likely disease-causing variants. …”
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Knockout of the inhibitory receptor TIGIT enhances the antitumor response of ex vivo expanded NK cells and prevents fratricide with therapeutic Fc-active TIGIT antibodies by Dean A Lee, Jeremiah L Oyer, Md Faqrul Hasan, Tayler J Croom-Perez, Liza D Robles-Carrillo, Sanjana Kumar, Brendan W Andersen, Brian P Tullius, Alicja J Copik, Amanda R Campbell, Thomas A Dieffenthaller, Catherine A Cash, Jonathan E Eloriaga, Meisam Naeimi Kararoudi

“…Since NK cells express TIGIT and Fc-receptor CD16, Fc-active anti-TIGIT may deplete NK cells via fratricide, which has not been studied.Methods CRISPR-Cas9-based TIGIT knockout (KO) was performed in expanded NK cells. Phenotypic and transcriptomic properties of TIGIT KO and wild-type (WT) NK cells were compared with flow cytometry, CyTOF, and RNA sequencing. …”
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Phase I study of efineptakin alfa (NT-I7) for the treatment of Kaposi sarcoma by Leonard D’Amico, Martin Cheever, Steven P Fling, Anna Wright, Kathryn Lurain, Ramya Ramaswami, Irene Ekwede, Thomas S Uldrick, Robert Yarchoan, Judith C Kaiser, Angela Shaulov Kask, Manoj P Menon, Paul Couey, Eli Burnham, Allysson Angeldekao, Byung Ha Lee, Li-Lian Kwok, Chia-Ching Jackie Wang

“…In PWH, IL-7 administration leads to increased numbers of circulating central memory and naïve T-cell phenotypes.Methods In this multicenter phase I study with a 3+3 dose escalation design, participants with KS with or without HIV received up to four intramuscular injections of IL-7 (NT-I7) every 9 weeks. …”
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