Heterosis: current advances in the search for molecular mechanisms by M. N. Shapturenko, L. V. Khotyleva

“…Taken together, data indicates that heterosis cannot been explained by a single common mechanism, because this complex phenomenon involves many components, a cumulative effect of which leads to the formation of an outstanding phenotype.…”
Get full text

Pleiotropic effects of a recessive Col1a2 mutation occurring in a mouse model of severe osteogenesis imperfecta. by Michelangelo Corcelli, Rachel Sagar, Ellen Petzendorfer, Mohammad Mehedi Hasan, Fleur S van Dijk, Anna L David, Pascale V Guillot

“…However, the specific effects on the phenotype and function of osteoblasts are not fully understood. …”
Get full text

Development of Asthma Mouse Model By Dermal Sensitization by Isameldin Abdalla, Amir A. Bashir

“…These changes confirmed the allergic responses and the development of asthma phenotype. …”
Get full text

MtCro: multi-task deep learning framework improves multi-trait genomic prediction of crops by Dian Chao, Hao Wang, Fengqiang Wan, Shen Yan, Wei Fang, Yang Yang

“…However, current deep learning models focus on learning specific phenotypes for the given task, overlooking the inter-correlations among different phenotypes. …”
Get full text

The Novel CFTR Mutation A457P in a Male with a Delayed Diagnosis of Cystic Fibrosis by Kate H. Cole, Patrick R. Sosnay, Lonny B. Yarmus, Jonathan B. Zuckerman

“…The patient's clinical course through adulthood is described, and genotype-phenotype correlation is discussed. The A457P mutation appears to confer a relatively mild phenotype, as is usually observed with CFTR class IV–VI defects. …”
Get full text

Coping with the Forced Swim Stressor: Towards Understanding an Adaptive Mechanism by E. R. de Kloet, M. L. Molendijk

“…In the past decade however the switch from active to passive “coping” was used increasingly to describe the phenotype of an animal that has been exposed to a stressful history and/or genetic modification. …”
Get full text

Alpha-actinin-4-mediated FSGS: an inherited kidney disease caused by an aggregated and rapidly degraded cytoskeletal protein. by June Yao, Tu Cam Le, Claudine H Kos, Joel M Henderson, Phillip G Allen, Bradley M Denker, Martin R Pollak

“…"Knockin" mice with a disease-associated Actn4 mutation develop a phenotype similar to that observed in humans. Comparison of the phenotype in wild-type, heterozygous, and homozygous Actn4 "knockin" and "knockout" mice, together with our in vitro data, suggests that the phenotypes in mice and humans involve both gain-of-function and loss-of-function mechanisms.…”
Get full text

Susceptibility to Ventricular Arrhythmias Resulting from Mutations in FKBP1B, PXDNL, and SCN9A Evaluated in hiPSC Cardiomyocytes by Hector Barajas-Martinez, Maya Smith, Dan Hu, Robert J. Goodrow, Colleen Puleo, Can Hasdemir, Charles Antzelevitch, Ryan Pfeiffer, Jacqueline A. Treat, Jonathan M. Cordeiro

“…Only the proband carrying all 3 mutations displayed the ERS/BrS phenotype, whereas one nor two mutations alone did not produce the clinical phenotype. …”
Get full text

Rapamycin-resistant polyclonal Th1/Tc1 cell therapy (RAPA-201) safely induces disease remissions in relapsed, refractory multiple myeloma by Lawrence G Lum, Parameswaran Hari, Aniko Szabo, Michele Donato, Jee Hyun Park, Daniel H Fowler, Binod Dhakal, Saurabh Chhabra, Deborah D Glass, David S Siegel, Tania C Felizardo

“…Only 4 of 14 patients (29%) had a serious adverse event (≥ grade 3) of any attribution.Conclusions Consistent with our hypothesis, ex vivo manufacturing using mTOR inhibition and IFN-α polarization consistently yielded a novel RAPA-201 DP that possessed a desirable phenotype relative to cytokine phenotype, memory status, and checkpoint expression. …”
Get full text

Natural Killer Cells from Malignant Pleural Effusion Are Endowed with a Decidual-Like Proangiogenic Polarization by Annalisa Bosi, Silvia Zanellato, Barbara Bassani, Adriana Albini, Alessandra Musco, Maria Cattoni, Matteo Desio, Elisa Nardecchia, Davide Giuseppe D’Urso, Andrea Imperatori, Lorenzo Dominioni, Douglas M. Noonan, Lorenzo Mortara, Antonino Bruno

“…We investigated whether NK cells from peripheral blood (PB) and pleural effusions of patients develop decidual-like NK phenotype and whether exposure to IL-2 can restore their killing ability in the presence of pleural fluids. …”
Get full text

Pseudodominant Nanophthalmos in a Roma Family Caused by a Novel PRSS56 Variant by Lubica Dudakova, Pavlina Skalicka, Olga Ulmanová, Martin Hlozanek, Viktor Stranecky, Frantisek Malinka, Andrea L. Vincent, Petra Liskova

“…We have identified pseudodominant inheritance for this phenotype caused by a novel variant in PRSS56, representing a possible founder effect. …”
Get full text

The Polycystic Ovary Syndrome and the Metabolic Syndrome: A Possible Chronobiotic-Cytoprotective Adjuvant Therapy by Eduardo Spinedi, Daniel P. Cardinali

“…Although its etiology is not fully understood, evidence suggests that insulin resistance, with or without compensatory hyperinsulinemia, and hyperandrogenism are very common features of the polycystic ovary syndrome phenotype. Dysfunctional white adipose tissue has been identified as a major contributing factor for insulin resistance in polycystic ovary syndrome. …”
Get full text

Mesenchymal Stem Cell–Sourced Exosomes as Potentially Novel Remedies for Severe Dry Eye Disease by Carl Randall Harrell, Valentin Djonov, Ana Volarevic, Aleksandar Arsenijevic, Vladislav Volarevic

“…Since detrimental immune response is crucially responsible for the development and aggravation of DED, therapeutic agents which modulate phenotype and function of eye-infiltrated inflammatory immune cells could be used for the treatment of severe DED. …”
Get full text

Medullary breast carcinoma: a pathogenic review and immunohistochemical study using tissue microarray by Ming Lee, Ana Richelia Jara-Lazaro, Poh Yian Cheok, Aye Aye Thike

“…Conclusions: Lymphovascular invasion and high nodal stage as well as triple negativity among typical and atypical MBCs that have basal-like phenotype represent a portion of invasive carcinomas with medullary features that may have poor outcomes in this otherwise relatively good prognostic group.…”
Get full text

Myocardial infarction without obstructive coronary artery disease (MINOCA) by Klever Geovanny Cárdenas Chacha, Yeseb Janira Vera Torres, Antonella Fanny Montenegro Villavicencio, Amilkar Suárez, Shirley Abigail López Baños

“…The most common clinical phenotype has been obstructive atherosclerotic disease of the coronary arteries, which has now changed to the phenotype without coronary obstruction, MINOCA. …”
Get full text

<i>TFL1</i>-like genes in <i>Vigna unguiculata</i> (L.) Walp. with different growth habit types by E. A. Krylova, E. K. Khlestkina

“…Rearrangements were found in the introns and the promoter region, but no relationship was traced between these rearrangements and the phenotype in terms of growth habit types or architectonics.Conclusion. …”
Get full text

Imprinting and Promoter Usage of Insulin-Like Growth Factor II in Twin Discordant Placenta by Yan-Min Luo, Qun Fang, Hui-Juan Shi, Lin-Huan Huang, Run-Cai Liang, Guang-Lun Zhuang

“…Our findings indicate that the promoter 3 specific LOI of the IGF-II gene may be closely related with phenotype discordance, not weight discordance.…”
Get full text

Missense variants at the p.Arg225 residue in ARHGEF40 identified in individuals with multiple congenital anomalies and developmental delay by Melanie P. Napier, Erin Ryan, Adi Reich, Joshua A. Suhl, Diane Masser-Frye, Marilyn Jones, Celese Beaudreau, Nathaniel Robin, Dana Goodloe, Leandra Folk, Michelle M. Morrow, Deanna Alexis Carere

“…Here, we provide genetic and phenotypic information for two individuals harboring de novo variants at p.Arg225 and sharing a highly similar phenotype. …”
Get full text

Suggested Guidelines for the Treatment of Mycosis Fungoides in Countries with Limited Resources by Mona Abdel-Halim Ibrahim, Nada Eltayeb, Mirna Michel Ibrahim, Ahmed Nassar, Maged Daruish, Maha El-Zimaity, Mahmoud El-Lithy, Ahmed Mostafa, Amal El-Afifi, Haitham Abdelbary, Mahira Hamdy El-Sayed

“…We suggest a practical algorithm for the treatment of MF for patients with dark phenotype living in countries with limited resources.…”
Get full text

Young Cuban Patients with a Clinical and biochemical Diagnosis of Xeroderma Pigmentosum by Judith Beatriz Pupo Balboa, Mónica Marín García, Anamarys Pandolfi Blanco, Lucía Fariñas Rodríguez, Paulina Araceli Lantigua Cruz

“…<br /><strong>Results:</strong> in two patients, the alkaline comet assay showed a competent repair phenotype (62.3% and 139% respectively). The other two patients had deficient repair, suggesting the presence of one of the classic forms of the disease. …”
Get full text