Results 171 to 180 of about 1,419,402 (298)

Determinants of orphan drug health technology assessment in South Korea: an empirical analysis. [PDF]

Front Pharmacol
Lee SH, Lee SK, Lee JH, Bang JS.
europepmc   +1 more source

Advances in orphan drug development: Time to change the status and stereotype. [PDF]

Perspect Clin Res, 2022
Thakur S.
europepmc   +1 more source

Evidence That the Protein Phosphatase Activity of PTEN Contributes to Embryonic Development and Tumor Suppression

Cancer Science, EarlyView.
Mice expressing only mutant PTEN Y138L, a protein which shows normal suppression of cellular AKT yet lacks protein phosphatase activity, die in utero, and heterozygous mice display a range of tumors. This indicates both the lipid and protein phosphatase activities of PTEN work together for normal tumor suppression and embryonic development.
Priyanka Tibarewal, Laura Spinelli, Nisha Kriplani, Helen Wise, Nadege Poncet, Giulia Marzano, Karen E. Anderson, Katarzyna M. Grzes, Zofia Varyova, Mahreen Adil, C. Peter Downes, Phillip T. Hawkins, Len R. Stephens, Kate G. Storey, Doreen A. Cantrell, Bart Vanhaesebroeck, Nicholas R. Leslie   +16 more
wiley   +1 more source

How do patients and other members of the public engage with the orphan drug development? A narrative qualitative synthesis. [PDF]

Orphanet J Rare Dis, 2023
Frost J, Hall A, Taylor E, Lines S, Mandizha J, Pope C.   +5 more
europepmc   +1 more source

Clinical and genetic characterization of intellectual disability

Developmental Medicine &Child Neurology, EarlyView.
This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara, Minna Kraatari‐Tiri, Jussi‐Pekka Tolonen, Marko Merikukka, IDGEN Study Group, Hannaleena Kokkonen, Teija Paakkola, Susanna Varis, Antti Dahl, Jarmo Körkkö, Jonna Komulainen‐Ebrahim, Jukka Moilanen, Johanna Uusimaa, Outi Kuismin, Elisa Rahikkala   +14 more
wiley   +1 more source

Concurrent nanotherapeutics and regulatory updates for the management of amyotrophic lateral sclerosis: a focused review for orphan drug (Tofersen). [PDF]

Orphanet J Rare Dis
Kumar A, Shukla S, Rai A, Pathak P, Narayan KP.   +4 more
europepmc   +1 more source

Efficacy and Safety of SGLT2 Inhibitors in Patients With Genetic Lipodystrophy: A Real‐Life Experience From a National Reference Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Aim Lipodystrophy syndromes are rare diseases with metabolic and cardiovascular consequences. This study explores the metabolic and renal effects of sodium‐glucose cotransporter 2 inhibitors (SGLT2i) in patients with genetic lipodystrophy. Patients and Methods Patients with familial partial lipodystrophy (n = 57) or congenital generalised ...
Léna Robert, Ines Belalem, Corinne Vigouroux, Hippolyte Dupuis, Marie Christine Vantyghem, Mathilde Simonson, Estelle Nobecourt, Héléna Mosbah, Sophie Beliard, Stéphanie Jellimann, Sonja Janmaat, Camille Vatier, Sophie Lamothe   +12 more
wiley   +1 more source

Orphan drug uttroside B impedes MASH progression and HCC development in experimental models. [PDF]

JHEP Rep
Rayginia TP, Keerthana CK, Aiswarya SU, Shifana SC, Jannet S, Varma SS, Maria Joy P, Swetha M, James S, Aparna JS, Vijayan Y, Retnakumary AP, Nath LR, Kalimuthu K, Jaikumar VS, Sundaram S, Anto NP, Isakov N, Harikumar KB, Lankalapalli RS, Anto RJ.   +20 more
europepmc   +1 more source

Trends in orphan drug use and spending among children and adolescents during 2010-2020 in Korea. [PDF]

Front Pharmacol, 2022
Oh JY, Lee JY, Kim DS.
europepmc   +1 more source

From hepatic to hematopoietic: LRH‐1's expanding cellular repertoire to the immune system

The FEBS Journal, EarlyView.
The nuclear receptor LRH‐1 is a well‐characterized regulator of endodermal tissue. Yet, increasing evidence indicates that LRH‐1, although expressed at low levels, is also a critical regulator of the hematopoietic system. LRH‐1 regulates the immune system by contributing to immune cell‐specific functions.
Lukas Meisinger, Alice Wiedmann, Rayan Hassan M. Elshikhidriss, Thomas Brunner   +3 more
wiley   +1 more source