Results 41 to 50 of about 2,227,213 (269)

The intracellular localization and the ionic permeation of TRPV6 triggers chronic pancreatitis, skeletal dysplasia and is connected to mucolipidosis type II

Cell Communication and Signaling
Heterozygous TRPV6 mutations, which reduce significantly the Ca2+-permeability of the channel, lead to chronic pancreatitis and, if both TRPV6-alleles are affected, to skeletal dysplasia with neonatal transient hyperparathyroidism (TNHP) of newborns.
Claudia Fecher-Trost, Anna-Lena Gehl, Alessa Trunk, Johanna Hellmich, Christine Wesely, Heidi Löhr, Stefanie Buchholz, Marnie Cole, Andreas Beck, Markus R. Meyer, Ulrich Wissenbach   +10 more
doaj   +1 more source

Urothelial signaling [PDF]

Autonomic Neuroscience, 2010
The urinary bladder "mucosa" or innermost portion of the bladder is composed of transitional epithelium, basement membrane, and the lamina propria. This chapter reviews the specialized anatomy of the bladder epithelium (urothelium) and speculates on possible communication mechanisms from urothelial cells to various cell types within the bladder wall ...
openaire   +3 more sources

Admixture Mapping Reveals Candidate Regions for Methotrexate Neurotoxicity Susceptibility: A Reducing Disparities in Acute Leukemia Consortium Report

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Neurotoxicity is a rare, often dose‐limiting adverse effect of methotrexate (MTX) therapy that disproportionally affects Latino children. Factors contributing to the observed disparity are not well understood. This study leveraged admixture mapping to identify genetic regions associated with MTX‐related neurotoxicity susceptibility ...
Rachel D. Harris, Priya B. Shetty, Olga A. Taylor, Elizabeth G. Atkinson, Melissa A. Richard, M. Monica Gramatges, Mark Zobeck, Sandi Pruitt, Amy Hughes, M. Brooke Bernhardt, Ashley Chavana, Van Huynh, Kathleen Ludwig, Laura Klesse, Kenneth Heym, Timothy Griffin, Rodrigo Erana, Juan Carlos Bernini, Han Chen, Bing Yu, Philip J. Lupo, Karen R. Rabin, Michael E. Scheurer, Austin L. Brown, The REDIAL Consortium   +24 more
wiley   +1 more source

Inpatient Exposure, Confidence, and Knowledge in Pediatric Hematology/Oncology: Evaluating General Pediatric Residents During 2025 ACGME Curriculum Change

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background General pediatricians often evaluate hematologic and oncologic presentations before subspecialty consultation, yet the 2025 Accreditation Council for Graduate Medical Education (ACGME) pediatric requirements reduce inpatient pediatric hematology/oncology (PHO) time, raising questions about resident readiness.
Colburn Yu, Rohini Jain
wiley   +1 more source

A20 deubiquitinase controls PGC-1α expression in the adipose tissue

Lipids in Health and Disease, 2018
Background Peroxisome proliferator-activated receptor γ coactivator- 1alpha (PGC-1α) plays an important role in whole body metabolism and, particularly in glucose homeostasis.
Bruna Bombassaro, Leticia M. Ignacio-Souza, Carla E. Nunez, Daniela S. Razolli, Rafael M. Pedro, Andressa Coope, Eliana P. Araujo, Elinton A. Chaim, Licio A. Velloso   +8 more
doaj   +1 more source

Consensus Standards and Recommendations for Developmental and Cognitive Surveillance, Screening, and Evaluation in Sickle Cell Disease: Executive Summary From the National Alliance of Sickle Cell Centers Neurocognitive Workgroup

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Neurodevelopmental and neurocognitive difficulties are prevalent among individuals with sickle cell disease and warrant prompt identification and support. This Special Report provides an executive summary of standards and recommendations for surveillance, screening, and evaluation for development and cognition across the lifespan developed by ...
Alyssa M. Schlenz, Donna Murdaugh, Andrew M. Heitzer, Jennifer N. Longoria, Wendy Santos‐Modesitt, Arianna Martin, Judy Cavazos, Jeff Schatz, Catherine R. Hoyt, Alison King, Eboni I. Lance, Steven Hardy, Marsha Treadwell   +12 more
wiley   +1 more source

An [Imperfect] Case for Dyadic Research in Pediatric Psychosocial Oncology

Pediatric Blood &Cancer, EarlyView.
Stephanie M. Nanos, Lindsay A. Jibb, Gary Rodin   +2 more
wiley   +1 more source

Ovarian Sex Cord Stromal Tumors in Children and Adolescents—The European Standard Clinical Practice Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT As part of the European Cooperative Study Group for Paediatric Rare Tumours initiative, we developed standard clinical practice guidelines for ovarian sex cord stromal tumors, based on comprehensive national and international cohort analyses, literature review, and a final expert consensus conference.
Dominik T. Schneider, Kris‐Ann Schultz, Nora Schnitzler, Michael Abele, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Ines B. Brecht, Maja Cesen, Andrea Ferrari, Michaela Kuhlen, Malgorzata A. Krawczyk, Ricardo Lopez‐Almaraz, Yves Reguerre, Calogero Virgone, Daniel Orbach   +15 more
wiley   +1 more source

Natural Killer Cells in Paediatric Soft Tissue Sarcomas: A Systematic Review

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Paediatric soft tissue sarcomas (pSTS) are a rare and heterogeneous group of malignant tumours arising in tissues of mesenchymal origin. The role of natural killer (NK) cells in pSTS remains poorly understood, with evidence fragmented across small preclinical studies and early‐phase clinical trials.
Raya Dean, Lara V. Graham, Christina Putnam, Rosa Gomes Alves Martins, Daniel T. Harding, Tim J. Underwood, Zoë S. Walters, Matthew D. Blunt   +7 more
wiley   +1 more source

Systematic analysis of the intersection of disease mutations with protein modifications

BMC Medical Genomics, 2019
Background Perturbed posttranslational modification (PTM) landscapes commonly cause pathological phenotypes. The Cancer Genome Atlas (TCGA) project profiles thousands of tumors allowing the identification of spontaneous cancer-driving mutations, while ...
Claire M. Simpson, Bin Zhang, Peter V. Hornbeck, Florian Gnad   +3 more
doaj   +1 more source