Results 21 to 30 of about 373,528 (267)

Population-based prevalence and mutational landscape of von Willebrand disease using large-scale genetic databases

npj Genomic Medicine, 2023
Von Willebrand disease (VWD) is a common bleeding disorder caused by mutations in the von Willebrand factor gene (VWF). The true global prevalence of VWD has not been accurately established.
Omid Seidizadeh, Andrea Cairo, Luciano Baronciani, Luca Valenti, Flora Peyvandi   +4 more
doaj   +1 more source

326 Integrated Analysis of Genetic Databases Identifies miRNA Associated With Poor Survival In Melanoma

Journal of Clinical and Translational Science, 2022
OBJECTIVES/GOALS: Despite advances in precision medicine and understanding of the molecular pathways, melanoma remains the deadliest skin cancer, warranting identification of novel biomarkers.
Reid McCallister, Chitra Subramanian, Nikhil Mantena, Mark Cohen   +3 more
doaj   +1 more source

Efficacy and Tolerability of Topotecan/Cyclophosphamide/Dinutuximab in Relapsed and Refractory High‐Risk Neuroblastoma: A Multi‐Institutional Retrospective Study

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Purpose Chemoimmunotherapy with irinotecan, temozolomide, and dinutuximab (I/T/DIN) has emerged as first‐line therapy for relapsed/refractory (r/r) high‐risk neuroblastoma (HRNB) in North America. Topotecan and cyclophosphamide (T/C) are often used in combination with dinutuximab in the setting of lack of response, progression, or incomplete ...
Benjamin J. Lerman, Madeleine King, Rajen Mody, Sara‐Jane Onyeama, Araz Marachelian, Thomas Cash, Sara M. Federico, Meaghan Granger, Ami V. Desai, Suzanne Shusterman, Jennifer H. Foster, Elizabeth Sokol, Chelsee Greer, Keri Streby, Holly J. Meany, Kieuhoa T. Vo, Margaret E. Macy, Rochelle Bagatell   +17 more
wiley   +1 more source

Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases

Orphanet Journal of Rare Diseases, 2022
Background ENPP1 Deficiency—caused by biallelic variants in ENPP1—leads to widespread arterial calcification in early life (Generalized Arterial Calcification of Infancy, GACI) or hypophosphatemic rickets in later life (Autosomal Recessive ...
Lauren M. Chunn, Jeffrey Bissonnette, Stefanie V. Heinrich, Stephanie A. Mercurio, Mark J. Kiel, Frank Rutsch, Carlos R. Ferreira   +6 more
doaj   +1 more source

A taxonomic schema of potential pitfalls in clinical variant analysis based on real-world evidence.

PLoS ONE, 2023
The classification and interpretation of genetic variants associated with genetic diseases have been shown to vary between clinical genetic laboratories. This can lead to errors introduced in the interpretation and public presentation of genetic findings
Adam Coovadia, Luigi Boccuto, Yenui Chang, Jane DeLuca   +3 more
doaj   +1 more source

GSD: a genetic screen database

Mechanisms of Development, 2004
The systematic assignment of gene function to a sequenced genome is one of the outstanding challenges in the post-genomic era. Large-scale systematic mutagenesis screens are important tools for reaching this goal. Here we describe GSD, a software package that allows storage and integration of data from genetic screens. GSD was initially developed for a
Henrich, Thorsten, Ramialison, Mirana, Segerdell, Erik, Westerfield, Monte, Furutani-Seiki, Makoto, Wittbrodt, Joachim, Kondoh, Hisato   +6 more
openaire   +2 more sources

Clinical Course and Impact of Breaks in Therapy for Children With Relapsed/Refractory Solid Tumors

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Introduction Pediatric relapsed or refractory (R/R) solid tumors carry a dismal prognosis, and postrelapse patient experiences are not well described. We present postrelapse outcomes, including number of R/R events and subsequent therapy regimens.
Matthew T. McEvoy, Elizabeth L. Seashore, W. Susan Cheng, Shondra Clay, Jessica A. Casas, Jennifer H. Foster   +5 more
wiley   +1 more source

Genetic database software as medical devices [PDF]

Human Mutation, 2018
This article provides a primer on medical device regulations in the United States, Europe, and Canada. Software tools are being developed and shared globally to enhance the accessibility and usefulness of genomic databases. Interactive software tools, such as email or mobile alert systems providing variant classification updates, are opportunities to ...
Adrian Thorogood, Seydina B. Touré, Johan Ordish, Alison Hall, Bartha Knoppers   +4 more
openaire   +2 more sources

Adjunctive Therapeutic Plasma Exchange in Refractory Adult‐Onset Still's Disease Complicated by Secondary Macrophage Activation Syndrome: A Single‐Center Experience

Therapeutic Apheresis and Dialysis, EarlyView.
ABSTRACT Introduction Adult‐onset Still's disease (AOSD) complicated by macrophage activation syndrome (MAS) carries substantial mortality. The role of therapeutic plasma exchange (TPE) remains uncertain. Methods We retrospectively analyzed patients with AOSD‐MAS treated with TPE at a single‐center.
Masataka Ueda, Tomohiro Saito, Masahide Mizobuchi, Tomoki Shimomura, Saki Kawamori, Mitsuru Kawanishi, Natsuko Hattori, Jo Sugiyama, Satoshi Tsubata, Hanami Horiguchi, Kazuki Abe, Nao Iida, Yuki Kajio, Nao Oguro, Ryo Yanai, Hirokazu Honda   +15 more
wiley   +1 more source

Molecular bases of circadian magnesium rhythms across eukaryotes

FEBS Letters, EarlyView.
Circadian rhythms in intracellular [Mg2+] exist across eukaryotic kingdoms. Central roles for Mg2+ in metabolism suggest that Mg2+ rhythms could regulate daily cellular energy and metabolism. In this Perspective paper, we propose that ancestral prokaryotic transport proteins could be responsible for mediating Mg2+ rhythms and posit a feedback model ...
Helen K. Feord, Gerben van Ooijen
wiley   +1 more source