Results 11 to 20 of about 3,850 (167)
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
semanticscholar +4 more sources
ABSTRACTRare diseases impact approximately 1 in 10 people worldwide, and yet, less than 5% of all rare diseases currently have an approved treatment option available. This is due to many challenges unique to rare diseases, including small, diverse patient populations, the cost of drug development that is not proportionate to the number of patients who ...
Caleb P. Bupp +7 more
semanticscholar +5 more sources
Matched unrelated vs haploidentical donor hematopoietic cell transplantation using posttransplant cyclophosphamide [PDF]
: 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 +3 more sources
Gene Therapy for Genetic Syndromes: Understanding the Current State to Guide Future Care [PDF]
Gene therapy holds promise as a life-changing option for individuals with genetic variants that give rise to disease. FDA-approved gene therapies for Spinal Muscular Atrophy (SMA), cerebral adrenoleukodystrophy, β-Thalassemia, hemophilia A/B, retinal ...
Marian L. Henderson +11 more
doaj +3 more sources
3 digitale Spiele zum gemeinsam Spielen – empfohlen von der BuPP
Im Folgenden werden drei 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
Androgen-Induced Immunosuppression
In addition to determining biological sex, sex hormones are known to influence health and disease via regulation of immune cell activities and modulation of target-organ susceptibility to immune-mediated damage.
Melanie R. Gubbels Bupp +1 more
doaj +2 more sources
Dilated coronary arteries in a 2-month-old with RIT1-associated Noonan syndrome: a case report [PDF]
Background Noonan Syndrome is caused by variants in a variety of genes found in the RAS/MAPK pathway. As more causative genes for Noonan Syndrome have been identified, more phenotype variability has been found, particularly congenital heart defects. Here,
Claudia V. Aniol +6 more
doaj +2 more sources
The Confluence of Sex Hormones and Aging on Immunity
The immune systems of post-pubescent males and females differ significantly with profound consequences to health and disease. In many cases, sex-specific differences in the immune responses of young adults are also apparent in aged men and women ...
Melanie R. Gubbels Bupp +3 more
doaj +2 more sources
The Worldwide Network of Blood and Marrow Transplantation (WBMT) pursues the mission of promoting hematopoietic cell transplantation (HCT) for instance by evaluating activities through member societies, national registries and individual centers.
Dietger Niederwieser +35 more
doaj +2 more sources
Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics [PDF]
Insulin is amongst the human genome’s most well-studied genes/proteins due to its connection to metabolic health. Within this article, we review literature and data to build a knowledge base of Insulin (INS) genetics that influence transcription ...
Taylor W. Cook +6 more
doaj +2 more sources

