Assessment of phenotypic diversity of Ñuña, a local common bean (Phaseolus vulgaris L.) from the northern Andes in Peru by Angel Esteban Santa Cruz Padilla, Jorge Luis Vásquez-Orrillo, Ricardo Manuel Bardales-Lozano, Hipolito Murga-Orrillo

“…It stands out for its ability to expand and burst when roasted; however, its phenotypic diversity has not yet been fully explored. …”
Get full text

Characterization and functional analysis of conserved non-coding sequences among poaceae: insights into gene regulation and phenotypic variation in maize by Yi Luo, Hang Zhai, Xiu Zhong, Bo Yang, Yang Xu, Tianhong Liu, Qi Wang, Yang Zhou, Yan Mao, Yaxi Liu, Qi Tang, Yanli Lu, Yao Wang, Jie Xu

Subjects: Get full text

Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy by Noman Ahmad, Sundus A. Ansari, Nabil A. Aleysae, Emily L.G. Heaphy, Mrouge M. Sobaihi, Balgees A. Alghamdi, Ali S. Alzahrani

Get full text

Reduction of orexin-expressing neurons and a unique sleep phenotype in the Tg-SwDI mouse model of Alzheimer’s disease by Yan Wu, Narayan R. Bhat, Meng Liu

“…This selective loss of orexin-IR neurons could be associated with the abnormal sleep phenotype in these Tg-SwDI mice. Further studies are needed to determine the cause of the selective death of orexin-IR cells and relevant effects on cognition impairments in this mouse model of microvascular amyloidosis.…”
Get full text

Semaphorin 3A Shifts Adipose Mesenchymal Stem Cells towards Osteogenic Phenotype and Promotes Bone Regeneration In Vivo by Xiangwei Liu, Naiwen Tan, Yuchao Zhou, Xueying Zhou, Hui Chen, Hongbo Wei, Ji Chen, Xiaoru Xu, Sijia Zhang, Guodong Yang, Yingliang Song

“…Taken together, our study here identifies Sema3A as a critical gene for osteogenic phenotype and reveals that Sema3A-modified ASCs would serve as a promising candidate for bettering bone defect repair.…”
Get full text

From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia by Mónica Fernandes Pineda, Andrés F. Zea-Vera

“…To conduct a comprehensive analysis of the correlation between phenotypic and molecular diagnoses in patients with confirmed inborn errors of immunity at a tertiary hospital in Cali, Colombia. …”
Get full text

A De Novo Whole GCK Gene Deletion Not Detected by Gene Sequencing, in a Boy with Phenotypic GCK Insufficiency by N. H. Birkebæk, J. S. Sørensen, J. Vikre-Jørgensen, P. K. A. Jensen, O. Pedersen, T. Hansen

“…We report on a boy with diabetes mellitus and a phenotype indicating glucokinase (GCK) insufficiency, but a normal GCK gene examination applying direct gene sequencing. …”
Get full text

Positive associations between cannabis and alcohol use polygenic risk scores and phenotypic opioid misuse among African-Americans. by Jill A Rabinowitz, Jin Jin, Sally I-Chun Kuo, Adrian I Campos, Miguel E Rentería, Andrew S Huhn, Johannes Thrul, Beth A Reboussin, Kelly Benke, Benjamin Domingue, Nicholas S Ialongo, Brion S Maher, Darlene Kertes, Vanessa Troiani, George Uhl

Get full text

Connecting electronic health records to a biomedical knowledge graph to link clinical phenotypes and molecular endotypes in atopic dermatitis by Francesca Frau, Paul Loustalot, Margaux Törnqvist, Nina Temam, Jean Cupe, Martin Montmerle, Franck Augé

Get full text

Phenotypic diversity of CTCs and tdEVs in liquid biopsies of tumour-draining veins is linked to poor prognosis in colorectal cancer by Stefan A. Cieslik, Andrés G. Zafra, Christiane Driemel, Monica Sudarsanam, Jan-Philipp Cieslik, Georg Flügen, Levent Dizdar, Andreas Krieg, Sascha Vaghiri, Hany Ashmawy, Stephen Fung, Miriam Wilms, Leon W. M. M. Terstappen, Afroditi Nanou, Hans Neubauer, Nuh N. Rahbari, Wolfram T. Knoefel, Nikolas H. Stoecklein, Rui P. L. Neves

“…Importantly, the combined phenotypic diversity of both markers emerges as a more powerful biomarker than their enumeration alone. …”
Get full text

Development of a Functional Schwann Cell Phenotype from Autologous Porcine Bone Marrow Mononuclear Cells for Nerve Repair by Michael J. Rutten, Michael Ann Janes, Ivy R. Chang, Cynthia R. Gregory, Kenton W. Gregory

“…However, many methods of producing Schwann-like cells can be laborious with the cells lacking a functional phenotype. The objective of this study was to develop a simple and rapid method using autologous BM-MNCs to produce a phenotypic and functional Schwann-like cell. …”
Get full text

Identification of the RHD novel allele c. 801+2T>G and study of its effect on RhD phenotype in vitro by JIA Shuangshuang, WEN Jizhi, WEI Ling, ZHANG Runqing, LUO Guangping, JI Yanli

Subjects: “…rhd phenotype…”
Get full text

Expanding the Phenotype of Congenital Glucocorticoid Deficiency: An Iranian Patient with Cholestasis due to Pathogenic Variants in the MC2R Gene by Shohreh Maleknejad, Setila Dalili, Ameneh Sharifi, Afagh Hassanzadeh Rad, Reza Bayat, Bahareh Rabbani, Nejat Mahdieh

Get full text

Integrating phylogeographic and phenotypic evidence to delimit deep evolutionary lineages in the Dryophytes japonicus species complex, with an assessment of their conservation needs by Amaël Borzée, Yikweon Jang, Siti N. Othman, Jordy Groffen, Irina V. Maslova, Zoljargal Purevdorj, Kiyomi Yasumiba, Tomohiko Shimada, Yoonjung Yi, Natalya Alekseevna Schepina, Desiree Andersen, Yoonhyuk Bae, Ikuo Miura, Christophe Dufresnes

“…Earlier studies on the northeast Asian treefrog, Dryophytes japonicus, identified a deep Mio-Pliocene diversification; however, phenotypic assessments were lacking, and the taxonomic identity of the identified clades is under debate. …”
Get full text

Brain Hemodynamic Intermediate Phenotype Links Vitamin B12 to Cognitive Profile of Healthy and Mild Cognitive Impaired Subjects by Luca Cecchetti, Giada Lettieri, Giacomo Handjaras, Andrea Leo, Emiliano Ricciardi, Pietro Pietrini, Silvia Pellegrini, The Train the Brain Consortium

“…We then evaluated whether task-related brain responses represent an intermediate phenotype, providing a better prediction of subjects’ neuropsychological scores, as compared to the one obtained considering blood biochemistry only. …”
Get full text

Prognostic models of immune-related cell death and stress unveil mechanisms driving macrophage phenotypic evolution in colorectal cancer by Hao Liu, Chuhan Zhang, Sanfei Peng, Yuhan Yin, Yishi Xu, Sihan Wu, Liping Wang, Yang Fu

“…Pseudotime analysis and cellular experiments indicated that the model gene GAL3ST4 promotes the transition of macrophages toward an M2 pro-tumor phenotype. Furthermore, cell communication analysis and experimental validation revealed that the cuproptosis in tumor cells suppress GAL3ST4 expression, thereby inhibiting M2-like macrophage polarization. …”
Get full text

Phenotypic identification of Metallo-ß- lactamase resistance Gram negative bacteria from a clinical specimen in Sidama, Ethiopia by Tsegaye Alemayehu, Wondwesson Abera, Musa Mohammed Ali, Bethelihem Jimma, Henok Ayalew, Limenih Habte, Frezer Teka, Demissie Asegu

Get full text

Metabolic Phenotyping of Adipose-Derived Stem Cells Reveals a Unique Signature and Intrinsic Differences between Fat Pads by Camille Lefevre, Baptiste Panthu, Danielle Naville, Sylvie Guibert, Claudie Pinteur, Bénédicte Elena-Herrmann, Hubert Vidal, Gilles J. P. Rautureau, Anne Mey

“…In this study, we performed high-resolution nuclear magnetic resonance (NMR) metabolomic analyses of ASC culture supernatants in order to characterize their metabolic phenotype in culture. We identified and quantified 29 ASC exometabolites and evaluated their consumption or secretion over 72 h of cell culture. …”
Get full text

Serological Detection of Rh-Del Phenotype among Rh-Negative Blood Donors at National Blood Center, Yangon, Myanmar by Saw Thu Wah, Saung Nay Chi, Kyi Kyi Kyaing, Aye Aye Khin, Thida Aung

“…Of 202 blood donors (167 true Rh-negative and 35 Rh-Del), all of the Rh-Del positives were C-antigen-positive with 94.3% Ccee phenotype (33/35) and 5.7% CCee (2/35). Most of the Rh-negative donors (80.2%) were ccee phenotype (134/167). …”
Get full text

Protocol for Rhapsody: a longitudinal observational study examining the feasibility of speech phenotyping for remote assessment of neurodegenerative and psychiatric disorders by Allan H Young, Rebecca Strawbridge, Ammar Al-Chalabi, Dag Aarsland, Aleksandra Podlewska, Ray Chaudhuri, Elliot Hampsey, Marton Meszaros, Caroline Skirrow, Rosie H Taylor, Lazarus Chok, Jack Weston, Emil Fristed, Olabisi Awogbemila

Get full text