Results 51 to 60 of about 4,846,243 (320)

Inborn Errors of Purine Salvage and Catabolism [PDF]

, 2023
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted ...
Simone Allegrini, Bernardini, Giulia, Pesi, Rossana, Garcia-Gil, Mercedes, Allegrini, Simone, Rossana Pesi, Mercedes Garcia-Gil, Giulia Bernardini, Micheli, Vanna, Tozzi, Maria Grazia, Camici, Marcella, Maria Grazia Tozzi, Vanna Micheli, Marcella Camici   +13 more
core   +1 more source

Retrospective Analysis of Donor Lymphocyte Infusions in Pediatric Patients With Mixed Chimerism After Hematopoietic Stem Cell Transplantation

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Allogeneic hematopoietic stem cell transplantation (alloHSCT) is an essential therapy for several malignant and nonmalignant diseases, but relapse and graft loss remain the principal threats to its success. Routine monitoring of chimerism and minimal residual disease (MRD) enables early detection of imminent recurrence and guides ...
Carmen Junk, Sebastian Michaelis, Michaela Döring, Thomas Eichholz, Ursula Holzer, Martin Ebinger, Tim Flaadt, Rupert Handgretinger, Peter Lang, Jan Frederic Weller, Markus Mezger   +10 more
wiley   +1 more source

Human genetic dissection of papillomavirus-driven diseases: New insight into their pathogenesis

Human Genetics, 2020
Human papillomaviruses (HPVs) infect mucosal or cutaneous stratified epithelia. There are 5 genera and more than 200 types of HPV, each with a specific tropism and virulence. HPV infections are typically asymptomatic or result in benign tumors, which may
V. Béziat
semanticscholar   +1 more source

Understanding very early onset inflammatory bowel disease (VEOIBD) in relation to inborn errors of immunity

Immunological Reviews, 2023
Inflammatory bowel diseases (IBD) are multifactorial diseases which are caused by the combination of genetic predisposition, exposure factors (environmental and dietary), immune status, and dysbiosis.
C. Hall, E. de Zoeten
semanticscholar   +1 more source

Proteasome disorders and inborn errors of immunity [PDF]

, 2023
Inborn errors of immunity (IEI) or primary immune deficiencies (PIDD) are caused by variants in genes encoding for molecules that are relevant to the innate or adaptive immune response.
Poli Harlowe, María Cecilia
core   +1 more source

Identifying Patterns of Hospitalizations Among Childhood Cancer Survivors: A Population‐Based Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background Childhood cancer survivors (CCSs) experience more hospitalizations than the general population. We aimed to identify distinct hospitalization patterns among Queensland CCSs and the associated characteristics. Methods Cases (aged ≤14 years) diagnosed between 1995 and 2019 while residents of Queensland were identified through the ...
Hai Pham, Teyl Engstrom, Peter Baade, Natalie Bradford, Sarah Pont, Louise Marquart‐Wilson, Natasha Nassar, Jason D. Pole   +7 more
wiley   +1 more source

Inborn errors of amino acid metabolism – from underlying pathophysiology to therapeutic advances

Disease Models & Mechanisms, 2023
Amino acids are organic molecules that serve as basic substrates for protein synthesis and have additional key roles in a diverse array of cellular functions, including cell signaling, gene expression, energy production and molecular biosynthesis ...
S. G. Ziegler, Jiyoung Kim, J. T. Ehmsen, Hilary J. Vernon   +3 more
semanticscholar   +1 more source

A perilous path: the inborn errors of sphingolipid metabolism

Journal of Lipid Research, 2019
The sphingolipid (SL) metabolic pathway generates structurally diverse lipids that have roles as membrane constituents and as bioactive signaling molecules.
Teresa M. Dunn, Cynthia J. Tifft, Richard L. Proia   +2 more
doaj   +1 more source

Pervasive Sharing of Genetic Effects in Autoimmune Disease [PDF]

, 2011
Genome-wide association (GWA) studies have identified numerous, replicable, genetic associations between common single nucleotide polymorphisms (SNPs) and risk of common autoimmune and inflammatory (immune-mediated) diseases, some of which are shared ...
Klareskog, Lars, Benjamin F Voight, Worthington, Jane, Abecasis, Gonçalo R., David A van Heel, Judy Cho, Klareskog Lars, AbecasisGonç, Gonçalo R., Graham Robert R., van Heel, David A., Hansen, Kasper Lage, Graham, Robert R., Lage, Kasper, David A. van Heel, Hafler, David A., Benjamin M. Neale, Gregersen, Peter K., Gregersen, Peter, James T. Elder, Behrens Timothy, David A. Hafler, Siminovitch, Katherine A., null null, Philip L De Jager, Wijmenga, Cisca, Elizabeth Rossin, Cisca Wijmenga, David A Hafler, Chris Cotsapas, Siminovitch, KA, Kasper Lage, Mark J. Daly, Elder James T., Wallace Chris, John A. Todd, Hafler, DA, Rossin Elizabeth, Cotsapas, C, Gregersen Peter, Cotsapas, Chris, Klareskog, L, John A Todd, Behrens, Timothy, Rich Stephen S., Rich, Stephen S., Timothy Behrens, Todd, JA, Heel, David A. van, Abecasis Gonçalo R., Philip L. De Jager, Wallace, C, Neale, BM, Voight, BF, Voight, Benjamin F., Gonçalo R. Abecasis, Robert R. Graham, De Jager Philip L., Jeffrey C Barrett, Neale Benjamin M., Siminovitch Katherine A., Chris Wallace, Katherine A. Siminovitch, Benjamin M Neale, Robert R Graham, Cho, Judy, Jager, Philip L. De, Barrett Jeffrey C., Daly Mark J., Cotsapas Chris, Gonçalo R Abecasis, Rich, SS, van Heel David A., Wijmenga Cisca, Rossin, E, Graham, RR, Worthington, J, Gregersen, P, Barrett, Jeffrey C., Elder, James T., Jeffrey C. Barrett, Peter Gregersen, Katherine A Siminovitch, Lage Kasper, Wijmenga, C, Neale, Benjamin M., Wallace, Chris, Hafler David A., Behrens, T, James T Elder, Mark J Daly, Todd John A., Abecasis, GR, Elder, JT, Wijmenga, Cisca; id_orcid, Lars Klareskog, De Jager, PL, Voight Benjamin F., Benjamin F. Voight, FOCiS Network Consortia, Jane Worthington, Stephen S. Rich, Cho, J, FOCiS Network of Consortia, Cho Judy, Stephen S Rich, Barrett, JC, van Heel, DA, Todd, John A., Daly, Mark J., Daly, MJ, Worthington Jane, Rossin, Elizabeth, Lage, K, De Jager, Philip L.   +113 more
core   +1 more source

Classical Complement Pathway Inhibition in a Pediatric Patient With Refractory Immune Thrombocytopenia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric refractory immune thrombocytopenia (rITP) is generally characterized by persistent thrombocytopenia and failure to achieve a sustained response to multiple standard therapies. We report a 4‐year‐old female with congenital tufting enteropathy, post‐intestinal transplant patient on immunosuppressants, who developed severe rITP ...
Sarah Hsieh, Susmita Sarangi, Caileigh Pudela, Catherine M. Broome, Tara K. Suntum   +4 more
wiley   +1 more source