Results 231 to 240 of about 211,860 (282)

Repurposing With Purpose: Treatment of Bachmann–Bupp Syndrome With Eflornithine and Implications for Other Polyaminopathies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Rare 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, Elizabeth A. VanSickle, Julianne Michael, Chad R. Schultz, Kelly Nguyen, Melissa Hoefer, Surender Rajasekaran, André S. Bachmann   +7 more
wiley   +1 more source

Induced Pluripotent Stem Cells-Based Regenerative Therapies in Treating Human Aging-Related Functional Decline and Diseases. [PDF]

Cells
Yu P, Liu B, Dong C, Chang Y.
europepmc   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Homelessness and Housing Instability Among Care Leavers in Australia: Exploring Housing Pathways and Best Practice Housing Models

Australian Journal of Social Issues, EarlyView.
ABSTRACT A significant proportion of young people exiting Out‐of‐Home Care (OOHC) encounter substantial challenges in securing housing, often leading to homelessness within a few months after leaving care. All Australian jurisdictions have now approved extended care programs up to 21 years; however, none of them currently offer these young people ...
Yujie Zhao, Jacinta Waugh
wiley   +1 more source

Research Progress on the Interaction Between SIRT1 and Mitochondrial Biochemistry in the Aging of the Reproductive System. [PDF]

Biology (Basel)
Li Y, Kang K, Bao H, Liu S, Zhao B, Hu G, Wu J.   +6 more
europepmc   +1 more source

‘Playing the Game’: How Aboriginal Families Navigate Child Protection Systems to Restore Their Children Home From Out‐Of‐Home Care

Australian Journal of Social Issues, EarlyView.
ABSTRACT Reunification, or restoration of children from Out‐of‐Home Care (OOHC) is very rare. Using evidence generated from the New South Wales‐based Aboriginal‐led research Bring them home, keep them home, this paper examines and celebrates the resistance and resourcefulness of 20 Aboriginal families who navigated a child protection system designed to
B. J. Newton, Kimberly Chiswell, Caitlin Parker, Neika Tong, Shantelle Common   +4 more
wiley   +1 more source

Integrating the environmental and genetic architectures of aging and mortality. [PDF]

Nat Med
Argentieri MA, Amin N, Nevado-Holgado AJ, Sproviero W, Collister JA, Keestra SM, Kuilman MM, Ginos BNR, Ghanbari M, Doherty A, Hunter DJ, Alvergne A, van Duijn CM.   +12 more
europepmc   +1 more source

Deaths of Children in Out‐of‐Home‐Care: What do Inquest Reports Reveal About the Framing of Child Protection Practice?

Australian Journal of Social Issues, EarlyView.
ABSTRACT In Western Australia (WA), a coronial inquest into the death of a child who had been in care is mandatory. An inquest is a public hearing, a fact‐finding process to determine the cause of the death, prevent future deaths from occurring in similar circumstances and to comment on the public health implications.
Celine Harrison, Maria Harries, Mark Liddiard   +2 more
wiley   +1 more source

<i>CEBPA</i>-associated familial acute myeloid leukemia mimicking Werner syndrome: a case report. [PDF]

Front Genet
Demaret T, Feret D, Lambert B, Pranger D, Dargent JL, Martin Martinez MD, Renda A, Maystadt I.   +7 more
europepmc   +1 more source

SOX6 enhances vascular smooth muscle cell phenotypic switching and elevates blood pressure by activating autophagy

Animal Models and Experimental Medicine, EarlyView.
Sox6 expression is elevated in hypertensive conditions and promotes vascular smooth muscle cell phenotypic switching through autophagy activation. Using gain‐ and loss‐of‐function approaches both in vitro and in vivo, we demonstrate that Sox6 regulates blood pressure and vascular remodeling, highlighting its potential as a novel therapeutic target for ...
Qianhui Ling, Xilan Dong, Liyan Mao, Chengjun Huang, Linjing Cong, Haizeng Zhang, Jun Cai, Zhenzhen Chen   +7 more
wiley   +1 more source