Results 31 to 40 of about 3,268,379 (302)

Systematic multi-omic deconvolution of the clinical heterogeneity of Down syndrome

Nature Communications
Persons with Down syndrome, the genetic condition caused by trisomy 21, are at high risk of developing various co-occurring conditions affecting all major organ systems.
Micah G. Donovan, Srija Chillamcherla, Belinda A. Enriquez Estrada, Kayleigh R. Worek, Zenitha Sundararajan, Kyle W. Barstch, Kelly D. Sullivan, Matthew D. Galbraith, Angela L. Rachubinski, Joaquin M. Espinosa   +9 more
doaj   +1 more source

Trisomy 21 activates the kynurenine pathway via increased dosage of interferon receptors

Nature Communications, 2019
Down syndrome (DS) is caused by trisomy 21 (T21), but the underlying etiology of the related immune and neurological dysfunction is unclear. Here, the authors show that T21 activates the kynurenine pathway via increased interferon receptor copy number ...
Rani K. Powers, Rachel Culp-Hill, Michael P. Ludwig, Keith P. Smith, Katherine A. Waugh, Ross Minter, Kathryn D. Tuttle, Hannah C. Lewis, Angela L. Rachubinski, Ross E. Granrath, María Carmona-Iragui, Rebecca B. Wilkerson, Darcy E. Kahn, Molishree Joshi, Alberto Lleó, Rafael Blesa, Juan Fortea, Angelo D’Alessandro, James C. Costello, Kelly D. Sullivan, Joaquin M. Espinosa   +20 more
doaj   +1 more source

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source

Mass Cytometry Reveals Global Immune Remodeling with Multi-lineage Hypersensitivity to Type I Interferon in Down Syndrome

Cell Reports, 2019
Summary: People with Down syndrome (DS; trisomy 21) display a different disease spectrum relative to the general population, including lower rates of solid malignancies and higher incidence of neurological and autoimmune conditions.
Katherine A. Waugh, Paula Araya, Ahwan Pandey, Kimberly R. Jordan, Keith P. Smith, Ross E. Granrath, Santosh Khanal, Eric T. Butcher, Belinda Enriquez Estrada, Angela L. Rachubinski, Jennifer A. McWilliams, Ross Minter, Tiana Dimasi, Kelley L. Colvin, Dmitry Baturin, Andrew T. Pham, Matthew D. Galbraith, Kyle W. Bartsch, Michael E. Yeager, Christopher C. Porter, Kelly D. Sullivan, Elena W. Hsieh, Joaquin M. Espinosa   +22 more
doaj   +1 more source

Organoids for the Study of Retinal Development and Developmental Abnormalities

Frontiers in Cellular Neuroscience, 2021
The cumulative knowledge of retina development has been instrumental in the generation of retinal organoid systems from pluripotent stem cells; and these three-dimensional organoid models, in turn, have provided unprecedented opportunities for retinal ...
Anne Vielle, Anne Vielle, Yuna K. Park, Conner Secora, Conner Secora, Conner Secora, M. Natalia Vergara, M. Natalia Vergara   +7 more
doaj   +1 more source

Solid Pseudopapillary Neoplasm of the Pancreas in Children and Adolescents: Expert Recommendations

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Solid pseudopapillary neoplasm of the pancreas (SPN) is a rare low‐grade malignant exocrine pancreatic tumor, mostly discovered during the second decade of life in females, with a very good prognosis, provided microscopically complete surgical excision is achieved.
Sabine Irtan, Michael Abele, Calogero Virgone, Michaela Kuhlen, Ricardo Lopez‐Almarez, Tal Ben‐Ami, Ewa Bien, Maja Cesen, Malgorzata A. Krawczyk, Andrea Ferrari, Gianni Bisogno, Yves Reguerre, Dominik T. Schneider, Louise Galmiche, Jorg Fuchs, Sarah Braungart, Bilgehan Yalcin, Ines B. Brecht, Daniel Orbach   +18 more
wiley   +1 more source

Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome

Nature Communications
Individuals with Down syndrome, the genetic condition caused by trisomy 21, exhibit strong inter-individual variability in terms of developmental phenotypes and diagnosis of co-occurring conditions.
Micah G. Donovan, Neetha P. Eduthan, Keith P. Smith, Eleanor C. Britton, Hannah R. Lyford, Paula Araya, Ross E. Granrath, Katherine A. Waugh, Belinda Enriquez Estrada, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +12 more
doaj   +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

An integrated multi-omic natural history study of human development, sexual dimorphism, and the effects of trisomy 21

Nature Communications
Human development involves multiple signaling pathways acting concertedly in an age- and sex-specific fashion. Trisomy 21, the genetic cause of Down syndrome, dysregulates human development leading to both early neurodevelopmental delays and atypical ...
Neetha Paul Eduthan, Micah G. Donovan, Paula Araya, Angela L. Rachubinski, Kelly D. Sullivan, Matthew D. Galbraith, Joaquin M. Espinosa   +6 more
doaj   +1 more source

Acute Neurological Events in Children With Hemoglobin SC Disease: A Multicenter Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Neurological manifestations in children with hemoglobin SC (HbSC) disease remain insufficiently characterized, particularly regarding acute events. The aim of this study was to describe the spectrum and frequency of acute neurological events in a multicenter cohort of children with HbSC disease.
Célia Paulmin, Bérengère Koehl, Audrey Maudoux, Hanine Mansour, Marie‐Hélène Odievre, Nathalie Garrec, Emilie Georget, Cécile Arnaud, Slimane Allali, Lydia Doumdo, Marie Belloy, Corinne Guitton   +11 more
wiley   +1 more source