Results 281 to 290 of about 101,906 (351)

Treatment With Valoctocogene Roxaparvovec in a Patient With Severe Hemophilia A Led to Sustained Normal FVIII Levels

Haemophilia, EarlyView.
ABSTRACT Introduction Valoctocogene roxaparvovec, an adeno‐associated virus (AAV)‐based gene therapy, enables endogenous factor VIII (FVIII) expression in patients with severe hemophilia A without the need for regular FVIII infusions. Long‐term follow‐up assesses durability, safety, and immune‐related challenges following gene therapy.
Kerstin Herbst, Behnaz Pezeshkpoor, Claudia Klein, Thilo Albert, Philipp Lutz, Christian Strassburg, Ulrich Spengler, Georg Goldmann, Johannes Oldenburg   +8 more
wiley   +1 more source

Retinoic acid related orphan receptor α is a genetic modifier that rescues retinal degeneration in a mouse model of Stargardt disease and Dry AMD. [PDF]

Gene Ther
Akula M, McNamee SM, Love Z, Nasraty N, Chan NPM, Whalen M, Avola MO, Olivares AM, Leehy BD, Jelcick AS, Singh P, Upadhyay AK, Chen DF, Haider NB.   +13 more
europepmc   +1 more source

An Australian standard of care for Niemann–Pick disease type C

Internal Medicine Journal, EarlyView.
Abstract Background Niemann–Pick disease type C (NP‐C) is the fifth most prevalent lysosomal disorder in Australia. Diagnostic delay is common, impacted by disease heterogeneity, limited awareness within clinical gateway services and exclusion from state‐based newborn screening programmes.
Michel Tchan, Nicholas Smith, Heidi Peters, Ellie Van Velsen, Catherine Marraffa, Carolyn Ellaway, Katrina Cruz, Shekeeb S. Mohammad, Maina Kava, Joy Yaplito‐Lee, Shanti Balasubramaniam, Yusof Rahman, Brendon Boot, Ashley Bush, Felicity Munro, Leniza Hamoy, Ya Hui Hung, Philippa Johnston, Deanna Carpino, Molly Williams, Sharmila Kiss, Rebecca Quin, Ingrid Sutherland, Mark Walterfang   +23 more
wiley   +1 more source

Assessing Drug-Drug Interaction and Food Effect for BCS Class 2 Compound BI 730357 (Retinoic Acid-Related Orphan Receptor Gamma Antagonist, Bevurogant) Using a Physiology-Based Pharmacokinetics Modeling (PBPK) Approach with Semi-Mechanistic Absorption. [PDF]

Pharmaceutics
Kanacher T, Sjögren E, Korell J, Plan EL, Gómez-Mantilla JD, Ince I.   +5 more
europepmc   +1 more source

Genomic and proteomic insights into hidradenitis suppurativa

Journal of the European Academy of Dermatology and Venereology, EarlyView.
A dual pathogenic model of HS involving both epithelial dysfunction and systemic inflammation is supported. The HLA‐DRA association hints at autoimmune overlap, but the proteomic signature which is dominated by innate immune mediators favours an autoinflammatory classification, which may guide future therapeutic strategies and patient stratification ...
Maria Argyropoulou, Emmanouil Stylianakis, Isis Ricaño‐Ponce, Nick Keur, Theodora Kanni, Dimitra Stergianou, Mihai G. Netea, Vinod Kumar, Evangelos J. Giamarellos‐Bourboulis   +8 more
wiley   +1 more source

Unveiling orphan receptor-like kinases in plants: novel client discovery using high-confidence library predictions in the Kinase-Client (KiC) assay. [PDF]

Front Plant Sci
Jorge GL, Kim D, Xu C, Cho SH, Su L, Xu D, Bartley LE, Stacey G, Thelen JJ.   +8 more
europepmc   +1 more source

A Retrospective Chart Review of the Prevalence, Characteristics, and Discharge Destinations of Patients Hospitalized as “Social Admissions”

Journal of the American Geriatrics Society, EarlyView.
Overview of study.
Jasmine Mah, Lucy Eum, Lindsey Puddicombe, Christie Stilwell, Karen Nicholls, Hamish Frayne, Clara Long, Kristin Ko, Victoria Howatt, Margaret Man‐Ger Sun, Lynnea Lobert, Gali Latariya, Katalin Koller, Susan Freter, Maia von Maltzahn, Kenneth Rockwood, Samuel D. Searle, Melissa K. Andrew   +17 more
wiley   +1 more source

Integrating the In‐Laws: Class and Kin Support Within Marriage in Urban Kenya

Journal of Marriage and Family, EarlyView.
ABSTRACT Objective This study compares affinal kin relationships in low‐income and higher‐income families in Nairobi, Kenya. Background In most studies of kinship structure and relationships in sub‐Saharan Africa, culture serves as the basis upon which norms and expectations of kin are differentiated.
Kirsten Stoebenau, Nikita Viswasam, Estelle M. Sidze, Sangeetha Madhavan   +3 more
wiley   +1 more source

Primulagenin A is a potent inverse agonist of the nuclear receptor RAR-related orphan receptor gamma (RORγ)

Schwarz PF, Perhal AF, Preglej T, Breit L, Schmetterer KG, Grienke U, Janneschütz J, Chen Y, Rochel N, Kirchmair J, Schützenmeister N, Rollinger JM, Bonelli M, Dirsch VM.   +13 more
europepmc   +1 more source

Structural insights into the high basal activity and inverse agonism of the orphan receptor GPR6 implicated in Parkinson's disease. [PDF]

Sci Signal
Barekatain M, Johansson LC, Lam JH, Chang H, Sadybekov AV, Han GW, Russo J, Bliesath J, Brice NL, Carlton MBL, Saikatendu KS, Sun H, Murphy ST, Monenschein H, Schiffer HH, Popov P, Lutomski CA, Robinson CV, Liu ZJ, Hua T, Katritch V, Cherezov V.   +21 more
europepmc   +1 more source