Results 81 to 90 of about 3,009,060 (331)

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency [PDF]

, 2009
OBJECTIVE. Hypospadias is a frequent congenital anomaly but in most cases an underlying cause is not found. Steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) is a key regulator of human sex development and an increasing number of SF-1 (NR5A1) mutations are ...
Achermann, J.C., Akkurt, I., Biebermann, H., Cetindag, C., Grüters, A., Hiort, O., Köhler, B., Lin, L., Mazen, I., Rossi, R.   +9 more
core   +2 more sources

Recent advances in the management of Wilms' tumor

F1000Research, 2017
The objective of this article is to present an overview of recent trends in the management of Wilms’ tumor. With improved survival rates in the past few decades, critical long-term adverse therapy effects (such as renal insufficiency, secondary ...
R. Lopes, A. Lorenzo
semanticscholar   +1 more source

Biomarkers of Lupus Nephritis Histopathology: Where Do We Stand?

Arthritis &Rheumatology, EarlyView.
Objective Lupus nephritis (LN) is characterized by a variable disease course, necessitating continuous monitoring. There is an urgent need to identify noninvasive biomarkers. By reviewing and critically assessing the quality of existing studies on LN biomarkers correlating with histopathology, we here explore the challenges in promoting their use in ...
Valentina Querin, Leonardo Palazzo, Agnes B. Fogo, Mark Haas, David R. W. Jayne, Liz Lightstone, Brad H. Rovin, Surya V. Seshan, Augusto Vaglio, Ioannis Parodis, Ingeborg M. Bajema, for the Lupus Nephritis Classification Steering Committee   +11 more
wiley   +1 more source

Paternal obesity is associated with IGF2 hypomethylation in newborns: results from a Newborn Epigenetics Study (NEST) cohort [PDF]

, 2013
Data from epidemiological and animal model studies suggest that nutrition during pregnancy may affect the health status of subsequent generations. These transgenerational effects are now being explained by disruptions at the level of the epigenetic ...
A Kerjean, A Murrell, A Soubry, AD Stein, Adelheid Soubry, Amy Murtha, AP Feinberg, Autumn Bernal, BE Levin, BR Carone, BT Heijmans, C Gemma, C Gicquel, C Hoyo, C Hoyo, Cathrine Hoyo, CC Boissonnas, DC Dolinoy, DC Dolinoy, DJ Barker, Frances Wang, G Kaati, GA Dunn, GP Ravelli, H Boerschmann, H Cui, H Cui, H Cui, J Baker, J Frystyk, JA McKay, Joanne Kurtzberg, Joellen M Schildkraut, JS Dyer, KJ Stothard, LM McCowan, M Braunschweig, M Cruz-Correa, M Ollikainen, ME Pembrey, ME Pembrey, MJ Steenman, MJ Sullivan, Q Wu, R Barres, R Figueroa-Colon, R Loomba, RA Waterland, RA Waterland, RA Waterland, Randy L Jirtle, RC Painter, RC Painter, RL Jirtle, RP Steegers-Theunissen, S Honda, S Katari, S Pathak, SA Tanumihardjo, SD McDonald, SF Ng, SK Murphy, SK Murphy, SK Murphy, SS Du Plessis, Susan K Murphy, W Chao, Z Huang, Zhiqing Huang   +68 more
core   +3 more sources

Effect of developmental changes on pharmacokinetics of drugs used in the treatment of infant acute lymphoblastic leukaemia—A comprehensive review

British Journal of Clinical Pharmacology, EarlyView.
While the event‐free survival (EFS) of children treated for acute lymphoblastic leukaemia (ALL) has improved greatly in the last decades, the EFS for patients diagnosed with ALL before the age of one is still under 50%. This outcome further decreases when infants have a rearrangement in the gene encoding histone‐lysine N‐methyltransferase 2A (KMT2A ...
Tirsa de Kluis, Leiah J. Brigitha, Lidwien M. Hanff, Alwin D. R. Huitema, Inge M. van der Sluis, Meta H. M. Diekstra   +5 more
wiley   +1 more source

Phagocytic Mesothelial Cells in Pericardial Effusion Following Allogeneic Peripheral Blood Stem Cell Transplantation for Chronic Active Epstein–Barr Virus Infection: A Distinctive Cytomorphological and Immunocytochemical Case Study

Diagnostic Cytopathology, EarlyView.
ABSTRACT Phagocytic activity of mesothelial cells is a rare phenomenon requiring careful differentiation from histiocytic hemophagocytosis to ensure appropriate patient management, as these phenomena could exhibit distinct clinical implications. In this study, we report a case of phagocytic mesothelial cells found in pericardial effusion that developed
Hidetoshi Satomi, Ayumi Ryu, Sei Murayama, Hiroya Kojima, Satoshi Tanada, Keiichiro Honma   +5 more
wiley   +1 more source

MicroRNA-92a-3p inhibits the cell proliferation, migration and invasion of Wilms tumor by targeting NOTCH1

Oncology Report, 2018
Dysregulation of miR-92a-3p has been shown to contribute to many tumorigenic processes, and is correlated with tumor progression and prognosis. However, the association between miR-92a-3p and the clinicopathological features of Wilms tumorand its ...
Shibo Zhu, Li-yu Zhang, Zhang Zhao, W. Fu, Kai Fu, Guochang Liu, Wei Jia   +6 more
semanticscholar   +1 more source

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, EarlyView.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Cancer-prone syndrome of mosaic variegated aneuploidy and total premature chromatid separation: Report of five infants [PDF]

, 2001
Five infants (two girls and three boys) from four families all had severe pre- and post-natal growth retardation, profound developmental delay, microcephaly, hypoplasia of the brain with Dandy-Walker complex or other posterior fossa malformations, and ...
Galjaard, R-J.H. (Robert-Jan), Haelst, M.M. (Mieke) van, Hennekam, R.C.M. (Raoul), Hollander, N.S. (Nicolette) den, Hoogeboom, J. (Jeanette), Kleijer, W.J. (Wim), Krijger, R.R. (Ronald) de, Niermeijer, M.F. (Martinus)   +7 more
core   +1 more source

Optimized T-cell receptor-mimic chimeric antigen receptor T cells directed toward the intracellular Wilms Tumor 1 antigen

Leukemia, 2016
CD19-directed chimeric antigen receptor (CAR) T cells are clinically effective in a limited set of leukemia patients. However, CAR T-cell therapy thus far has been largely restricted to targeting extracellular tumor-associated antigens (TAA).
S. Rafiq, Terence J. Purdon, A. Daniyan, Mythili Koneru, T. Dao, C. Liu, D. Scheinberg, R. Brentjens, R. Brentjens   +8 more
semanticscholar   +1 more source