Expanding the phenotype: Four new cases and hope for treatment in
American Journal of Medical Genetics Part A, 2021 AbstractBachmann‐Bupp syndrome (BABS) is a rare syndrome caused by gain‐of‐function variants in the C‐terminus of ornithine decarboxylase (ODC coded by the ODC1 gene). BABS is characterized by developmental delay, macrocephaly, macrosomia, and an unusual pattern of non‐congenital alopecia.
VanSickle, Elizabeth A +10 more
core +8 more sources
Zwei besonders gelungene digitale Spiele: Spiritfarer und Splitter Critters [PDF]
Medienimpulse, 2021 Im Folgenden werden zwei digitale Spiele vorgestellt, die von der „BuPP – Bundesstelle für die Positivprädikatisierung von digitalen Spielen“ empfohlen wurden. Die BuPP ist eine Einrichtung des Bundeskanzleramts, Sektion Familie und Jugend.
Karina Kaiser-Fallent
doaj +2 more sources
Pediatric Dermatology, 2022 AbstractBachmann–Bupp syndrome (OMIM #619075) is a novel autosomal dominant disorder caused by variants in the c‐terminus of the ornithine decarboxylase 1 gene, resulting in increased levels of ornithine decarboxylase. This case report includes two patients diagnosed with Bachmann–Bupp syndrome who were treated with difluoromethylornithine through ...
Antara Afrin +5 more
openaire +3 more sources
Breaking Barriers to Rapid Whole Genome Sequencing in Pediatrics: Michigan’s Project Baby Deer [PDF]
Children, 2023 The integration of precision medicine in the care of hospitalized children is ever evolving. However, access to new genomic diagnostics such as rapid whole genome sequencing (rWGS) is hindered by barriers in implementation.
Caleb P. Bupp +14 more
doaj +2 more sources
Novel machine learning technique further clarifies unrelated donor selection to optimize transplantation outcomes [PDF]
Blood Advances: We investigated the impact of donor characteristics on outcomes in allogeneic hematopoietic cell transplantation (HCT) recipients using a novel machine learning approach, the Nonparametric Failure Time Bayesian Additive Regression Trees (NFT BART). NFT
Stephen R. Spellman +8 more
doaj +2 more sources
Donor telomeres and their magnitude of shortening post-allogeneic haematopoietic cell transplant impact survival for patients with early-stage leukaemia or myelodysplastic syndromeResearch in context [PDF]
EBioMedicineSummary: Background: Donor selection is a key success factor in allogeneic haematopoietic cell transplant (HCT). We evaluated the potential impact of donor leucocyte telomere length (LTL) and LTL shortening in recipients at three-month post-HCT (LTL-3MS)
Shahinaz M. Gadalla +15 more
doaj +2 more sources
Matched unrelated vs haploidentical donor hematopoietic cell transplantation using posttransplant cyclophosphamide [PDF]
Blood Advances: Posttransplant cyclophosphamide (PTCy)-based graft-versus-host disease (GVHD) prophylaxis is now standard for matched unrelated donor (MUD) hematopoietic cell transplantation (HCT). Previous studies comparing MUD and haploidentical donor HCT using PTCy
Dipenkumar Modi +18 more
doaj +2 more sources
Opportunities for RNA sequencing in physiology: from big data to understanding homeostasis and heterogeneity [PDF]
FunctionThe quantity of physiological data has grown exponentially, yielding insights into mechanisms of phenotypic and disease pathways. Among the powerful tools for physiological omics is the study of RNA, where broad sequencing of RNA leads to hypothesis ...
Jeremy W. Prokop +30 more
doaj +2 more sources
Single-cell profiling of trabecular meshwork identifies mitochondrial dysfunction in a glaucoma model that is protected by vitamin B3 treatment [PDF]
eLifeSince the trabecular meshwork (TM) is central to intraocular pressure (IOP) regulation and glaucoma, a deeper understanding of its genomic landscape is needed.
Nicholas Tolman +13 more
doaj +2 more sources
Glucocorticoids intrinsically redirect naïve CD4+ T cells to the bone marrow for preservation in malnourished mice [PDF]
Biology OpenMadeline L. Smith +5 more
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