BACE1 Is Necessary for Experience-Dependent Homeostatic Synaptic Plasticity in Visual Cortex by Emily Petrus, Hey-Kyoung Lee

“…Here we demonstrate that mice lacking the major neuronal β-secretase, BACE1, exhibit a similar phenotype: stronger basal excitatory synaptic transmission and failure to adapt to changes in visual experience. …”
Get full text

The Missing LNK: Evolution from Cytosis to Chronic Myelomonocytic Leukemia in a Patient with Multiple Sclerosis and Germline SH2B3 Mutation by Krishna Gundabolu, Bhavana J. Dave, Carmelita J. Alvares, Jeffrey J. Cannatella, Vijaya R. Bhatt, Lori J. Maness, Zaid S. Al-Kadhimi, Rana K. Zabad, Allison M. Cushman-Vokoun

“…Various molecular abnormalities like TET2, SRSF2, ASXL1, and RAS are reported in the pathogenesis of CMML, but no such mutations have been described to explain the strong association of autoimmune diseases and severe inflammatory phenotype seen in CMML. Germline mutation in SH2B adaptor protein 3 (SH2B3) had been reported before to affect a family with autoimmune disorders and acute lymphoblastic leukemia. …”
Get full text

Infrapatellar Fat Pad Stem Cells: From Developmental Biology to Cell Therapy by Ronaldo J. F. C. do Amaral, Henrique V. Almeida, Daniel J. Kelly, Fergal J. O’Brien, Cathal J. Kearney

“…The ideal cell type to be used for cartilage therapy should possess a proven chondrogenic capacity, not cause donor-site morbidity, and should be readily expandable in culture without losing their phenotype. There are several cell sources being investigated to promote cartilage regeneration: mature articular chondrocytes, chondrocyte progenitors, and various stem cells. …”
Get full text

NOD Dendritic Cells Stimulated with Lactobacilli Preferentially Produce IL-10 versus IL-12 and Decrease Diabetes Incidence by Jean N. Manirarora, Sarah A. Parnell, Yoon-Hyeon Hu, Michele M. Kosiewicz, Pascale Alard

“…These data indicated that L. casei can induce NOD DCs to develop a more tolerogenic phenotype via production of the anti-inflammatory cytokine, IL-10. …”
Get full text

Dasatinib and FLAG-IDA Is an Effective Therapy for Initial Myeloid Blast Crisis but Involves a High Risk of Opportunistic Infections by Jorge Labrador, Gerardo J. Hermida, Rodolfo Alvarez, Victor Anso, Pilar de Vicente, Mercedes Goñi, Tomas Jose Gonzalez-Lopez

“…Based on this, we present the case of a patient diagnosed with an initial nonlymphoid phenotype BC, who achieved molecular response (MR4.5) with dasatinib and FLAG-IDA, but he suffered a pulmonary aspergillosis, CMV infection, and a CMV reactivation, prior to an allogeneic hematopoietic stem cell transplantation (HSCT). …”
Get full text

A pair of promising immune checkpoints PSGL-1 and VISTA from immunotolerance to immunotherapy by Manqing Peng, Xiaofang Lu, Junshuang Guo, Xiangli Yin, Jing Zhang, Xin Li, Yizhou Zou

“…VISTA functions both as a ligand on myeloid cells, where it regulates cytokine production, chemotaxis, and phagocytosis while promoting their differentiation into a tolerogenic phenotype and as a receptor on T cells, where it contributes to T cell quiescence. …”
Get full text

Haplotype tagging efficiency and tagSNP sets portability in worldwide populations in NAT2 gene by Audrey Sabbagh, Pierre Darlu, André Langaney, Estella S. Poloni

“…Up to now, most association studies that have attempted to relate the acetylation phenotype in NAT2 to a variety of complex human disorders have led to contradictory results in different populations. …”
Get full text

Untethering the Nuclear Envelope and Cytoskeleton: Biologically Distinct Dystonias Arising from a Common Cellular Dysfunction by Nadia A. Atai, Scott D. Ryan, Rashmi Kothary, Xandra O. Breakefield, Flávia C. Nery

“…Elucidation of the overlapping roles of torsinA and dystonin-a2 in nuclear/endoplasmic reticulum dynamics should provide insights into the cellular mechanisms underlying the dystonic phenotype.…”
Get full text

Cancer-Associated Immune Resistance and Evasion of Immune Surveillance in Colorectal Cancer by Pietro Parcesepe, Guido Giordano, Carmelo Laudanna, Antonio Febbraro, Massimo Pancione

“…Data from molecular profiles of tumors and tumor associated cells provide a model in which cancer cells can acquire the capability of avoiding immune surveillance by expressing an immune-like phenotype. Recent works reveal that expression of immune antigens (PDL1, CD47, CD73, CD14, CD68, MAC387, CD163, DAP12, and CD15) by tumor cells “immune resistance,” combined with prometastatic function of nonmalignant infiltrating cells, may represent a strategy to overcome the rate-limiting steps of metastatic cascade through (a) enhanced interactions with protumorigenic myeloid cells and escape from T-dependent immune response mediated by CD8+ and natural killer (NK) cells; (b) production of immune mediators that establish a local and systemic tumor-supportive environment (premetastatic niche); (c) ability to survive either in the peripheral blood as circulating tumor cells (CTCs) or at the metastatic site forming a cooperative prometastatic loop with foreign “myeloid” cells, macrophages, and neutrophils, respectively. …”
Get full text

T-2 toxin induces senescence in human neuroblastoma SH-SY5Y cells by regulating the HIF-1α/p53/p21 pathway by Yating Wang, Xu Wang, Qinghua Wu

“…Notably, HIF-1α regulated the expression of cell cycle inhibitory proteins (p16, p21, p53) and senescence-associated secretory phenotype factors (IL-8, IL-6, CCL2), along with the expression of senescence-associated β-galactosidase, thereby exacerbating T-2 toxin-induced cellular senescence. …”
Get full text

Protein Ubiquitylation in Pancreatic Cancer by Thomas Bonacci, Julie Roignot, Philippe Soubeyran

“…The tumors are characterized by an early, invasive, and metastatic phenotype, and extreme resistance to all known anticancer therapies. …”
Get full text

Improving molecular subtypes and prognosis of pancreatic cancer through multi group analysis and machine learning by Xue-Jian Zhang, Fang-Fang Lin, Ya-Qing Wen, Kun-Ping Guan

“…The low CMLS group had a better prognosis and was more likely to possess a “hot” tumor phenotype. The prognosis for the high CMLS group was dismal. …”
Get full text

Analysis of Gene Expression in an Inbred Line of Soft-Shell Clams (Mya arenaria) Displaying Growth Heterosis: Regulation of Structural Genes and the NOD2 Pathway by John J. Wilson, Janelle Grendler, Azaline Dunlap-Smith, Brian F. Beal, Shallee T. Page

“…In order to inform studies on the growth of M. arenaria, we selected and inbred a population of soft-shell clams for a fast-growth phenotype. This population displayed significantly faster growth (p<0.0001), as measured by 35.4% greater shell size. …”
Get full text

Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation by Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada

“…Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. …”
Get full text

Obstacles to Early Diagnosis of Gaucher Disease by Nishimura S, Ma C, Sidransky E, Ryan E

“…The cause of this diagnostic delay is multifaceted. Since genotype/phenotype correlations in GD are not always clear, it is difficult to predict the presence, severity, and onset of clinical manifestations. …”
Get full text

Modulation of CXC Chemokine Receptor Expression and Function in Human Neutrophils during Aging In Vitro Suggests a Role in Their Clearance from Circulation by Katja C. Weisel, Frank Bautz, Gabriele Seitz, Sedat Yildirim, Lothar Kanz, Robert Möhle

“…In contrast, interleukin-8 receptors are downmodulated (CXCR2) or remain unchanged (CXCR1), suggesting that human PMNs undergoing senescence acquire a phenotype that impairs inflammatory extravasation and favors homing to the bone marrow or other tissues involved in sequestration. …”
Get full text

Hepatic Differentiation of Murine Disease-Specific Induced Pluripotent Stem Cells Allows Disease Modelling In Vitro by Reto Eggenschwiler, Komal Loya, Malte Sgodda, Francoise André, Tobias Cantz

“…Functional characterization of these cells allowed the recapitulation of the disease phenotype for further studies of underlying molecular mechanisms of the respective disease.…”
Get full text

Association between Sleep Habits and Metabolically Healthy Obesity in Adults: A Cross-Sectional Study by Thirumagal Kanagasabai, Ramandeep Dhanoa, Jennifer L. Kuk, Chris I. Ardern

“…Selected sleep quality factors, but not sleep quantity or overall sleep quality, are associated with the MHO phenotype.…”
Get full text

The role of transposable elements in the ecological morphogenesis under the influence of stress by R. N. Mustafin, E. K. Khusnutdinova

“…Therefore, inherited features of the location and composition of transposons, along with a change in the phenotype, play an important role in the characteristics of responding to a variety of environmental stressors. …”
Get full text

FREQUENCY OF RH-D NEGATIVE & WEAK D IN PAKISTANI POPULATION by Muhammad Usman et al

“…Molecular genetic of RHD gene revealed that weak D antigen is a Rh-D phenotype that possesses less numbers of D antigen epitopes on surface of red cells. …”
Get full text