Results 21 to 30 of about 35,482 (247)

GENE TARGET: A framework for evaluating Mendelian neurodevelopmental disorders for gene therapy

Molecular Therapy: Methods & Clinical Development, 2022
Interest in gene-based therapies for neurodevelopmental disorders is increasing exponentially, driven by the rise in recognition of underlying genetic etiology, progress in genomic technology, and recent proof of concept in several disorders. The current
Maya Chopra, Meera E. Modi, Kira A. Dies, Nancy L. Chamberlin, Elizabeth D. Buttermore, Stephanie Jo Brewster, Lisa Prock, Mustafa Sahin   +7 more
doaj   +1 more source

Monogenic Disorders of Adrenal Steroidogenesis [PDF]

Hormone Research in Paediatrics, 2018
Disorders of adrenal steroidogenesis comprise autosomal recessive conditions affecting steroidogenic enzymes of the adrenal cortex. Those are located within the 3 major branches of the steroidogenic machinery involved in the production of mineralocorticoids, glucocorticoids, and androgens.
Elizabeth S, Baranowski, Wiebke, Arlt, Jan, Idkowiak   +2 more
openaire   +2 more sources

Most Monogenic Disorders Are Caused by Mutations Altering Protein Folding Free Energy [PDF]

International Journal of Molecular Sciences
Preeti Pandey, Emil Alexov, Alexov Emil   +2 more
exaly   +2 more sources

Advanced Understanding of Monogenic Inflammatory Bowel Disease

Frontiers in Pediatrics, 2021
Inflammatory bowel disease (IBD) is a group of chronic disorders that cause relapsing inflammation in the gastrointestinal tract and comprise three major subgroups of Crohn's disease (CD), ulcerative colitis (UC), and IBD-unclassified (IBDU).
Ryusuke Nambu, Ryusuke Nambu, Ryusuke Nambu, Aleixo M. Muise, Aleixo M. Muise, Aleixo M. Muise   +5 more
doaj   +1 more source

The Genetic Architecture of High Bone Mass

Frontiers in Endocrinology, 2020
The phenotypic trait of high bone mass (HBM) is an excellent example of the nexus between common and rare disease genetics. HBM may arise from carriage of many ‘high bone mineral density [BMD]’-associated alleles, and certainly the genetic architecture ...
Celia L. Gregson, Emma L. Duncan
doaj   +1 more source

A systematic review of immunosuppressive protocols used in AAV gene therapy for monogenic disorders [PDF]

Molecular Therapy
Vrellaku B, Sethw Hassan I, Howitt R, Webster CP, Harriss E, McBlane F, Betts C, Schettini J, Lion M, Mindur JE, Duerr M, Shaw PJ, Kirby J, Azzouz M, Servais L.   +14 more
exaly   +2 more sources

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis [PDF]

CKJ: Clinical Kidney Journal
Junhao Yan, Sun Shuzhen, Yan Junhao
exaly   +2 more sources

Correlation between Ferritin and Iron Overload in Heart and Liver in BetaThalassaemia Major Patients in Shahrekord, Iran [PDF]

National Journal of Laboratory Medicine, 2018
Introduction: Beta-thalassaemia is one of the severe types of thalassaemia with very high healthcare costs. Iron overload in heart and liver is the most fatal complication in betathalassemia.
Kiavash Fekri, Nabiollah Asadpour, Majid Hamidi, Mohsen Karimian   +3 more
doaj   +1 more source

Monogenic Adult-Onset Inborn Errors of Immunity

Frontiers in Immunology, 2021
Inborn errors of immunity (IEI) are a heterogenous group of disorders driven by genetic defects that functionally impact the development and/or function of the innate and/or adaptive immune system.
Frederik Staels, Frederik Staels, Tom Collignon, Albrecht Betrains, Albrecht Betrains, Margaux Gerbaux, Margaux Gerbaux, Mathijs Willemsen, Mathijs Willemsen, Stephanie Humblet-Baron, Adrian Liston, Adrian Liston, Steven Vanderschueren, Steven Vanderschueren, Rik Schrijvers, Rik Schrijvers   +15 more
doaj   +1 more source

Primary atopic disorders: Monogenic insights into immunityPrimary atopic disorders [PDF]

Journal of Human Immunity
Modi et al. review how primary atopic disorders, a group of monogenic inborn errors of immunity, reveal fundamental mechanisms regulating allergic inflammation.
Bhavi P. Modi, Cassandra McDonald, Liam Golding, Leandro B.R. Da Silva, Catherine M. Biggs, Julia Körholz, Elliot L. James, Stuart E. Turvey   +7 more
doaj   +1 more source