Results 51 to 60 of about 534 (161)

LBMON196 A Randomized Controlled Trial Of Vosoritide In Infants And Toddlers With Achondroplasia

Journal of the Endocrine Society, 2022
Abstract Background Vosoritide increases annualized growth velocity (AGV) in children with achondroplasia aged 5 to 18 years. This global, phase 2, randomized, double-blind, placebo-controlled study evaluated the safety and efficacy of vosoritide on growth in children with achondroplasia aged 3 months
Savarirayan, Ravi, Wilcox, William W, Harmatz, Paul, III, John Phillips, Polgreen, Lynda E, Tofts, Louise, Ozono, Keiichi, Arundel, Paul, Irving, Melita, Bacino, Carlos A, Basel, Donald, Bober, Michael B, Charrow, Joel, Mochizuki, Hiroshi, Kotani, Yumiko, Saal, Howard M, Jeha, George, Han, Lynn, Fisheleva, Elena, Huntsman-Labed, Alice, Day, Jonathan   +20 more
openaire   +1 more source

Pathways to enhancing prenatal diagnosis of skeletal dysplasias

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Skeletal dysplasias are a group of Mendelian disorders that variably alter the development of the musculoskeletal system and phenotypically range from mild short stature syndromes to severe perinatal or neonatal morbidity. Prenatal diagnosis of these conditions can be challenging due to the lack of precision with ultrasound imaging compared to
Michelle Joy Wang, Christina Jacobsen, Jennifer Arnold, Ronald J. Wapner, Deborah Krakow   +4 more
wiley   +1 more source

Evolving Real‐World Data and Evidence Use for New Drugs and Regenerative Medical Products Approvals in Japan—An Analysis of the 6‐Year Trend

Clinical Pharmacology &Therapeutics, Volume 118, Issue 6, Page 1405-1421, December 2025.
Several regulatory initiatives have been made to clarify the acceptability and requirements of real‐world data and real‐world evidence (RWD/E) for the benefit/risk assessment of new medical products in Japan. The objectives of this review were to characterize the use of RWD/E in regulatory applications of new medical products and to describe the ...
Suguru Okami, Kako Shimotsumagari, Yasunari Sadatsuki   +2 more
wiley   +1 more source

The Concise Guide to PHARMACOLOGY 2025/26: Catalytic receptors

British Journal of Pharmacology, Volume 182, Issue S1, Page S259-S306, December 2025.
The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander, Doriano Fabbro, Chloe J. Peach, Alasdair J. Gibb, Eamonn Kelly, Alistair A. Mathie, Emma L. Veale, Jane F. Armstrong, Elena Faccenda, Simon D. Harding, Christopher Southan, Jamie A. Davies, Annie Beuve, Peter Brouckaert, Clare Bryant, John C. Burnett, Richard W. Farndale, Andreas Friebe, John Garthwaite, Adrian J. Hobbs, Gavin E. Jarvis, Laura Kilpatrick, Doris Koesling, Michaela Kuhn, Birgit Leitinger, David MacEwan, Tom P. Monie, Lincoln R. Potter, Michael Russwurm, Harald H. H. W. Schmidt, Johannes‐Peter Stasch, Scott A. Waldman   +31 more
wiley   +1 more source

Living With Hypochondroplasia: A Qualitative Exploration of Children's and Caregivers' Experiences, Challenges, and Unmet Needs

Molecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
Summary of findings from a qualitative study on the experiences and unmet needs of children with hypochondroplasia and their caregivers. ABSTRACT Background Hypochondroplasia (HCH) is a rare genetic skeletal dysplasia characterized by short stature, disproportionate limbs, and complications such as learning differences.
Elisabeth M. Oehrlein, Reni Pekala, Stacie Cavallaro, Margaret Cho, Chandler Crews, Andrew Dauber, Ankita Saxena, Joe Vandigo, Emily S. Reese   +8 more
wiley   +1 more source

Perspectives on the Current and Future State of Artificial Intelligence in Medical Genetics

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Artificial intelligence (AI) is rapidly transforming numerous aspects of daily life, including clinical practice and biomedical research. In light of this rapid transformation, and in the context of medical genetics, we assembled a group of leaders in the field to respond to the question about how AI is affecting, and especially how AI will ...
Benjamin D. Solomon, Morgan Cheatham, Thales A. C. de Guimarães, Dat Duong, Melissa A. Haendel, Tzung‐Chien Hsieh, Behnam Javanmardi, Britt Johnson, Peter Krawitz, Paul Kruszka, Tim Laurent, Ni‐Chung Lee, Kirsty McWalter, Michel Michaelides, Klaus Mohnike, Nikolas Pontikos, Maria J. Guillen Sacoto, Yousif J. Shwetar, Vincent D. Ustach, Rebekah L. Waikel, William Woof   +20 more
wiley   +1 more source

Phosphodiesterase 3 inhibitors boost bone outgrowth

British Journal of Pharmacology, Volume 182, Issue 18, Page 4327-4342, September 2025.
Background and Purpose C‐type natriuretic peptide (CNP) stimulates skeletal growth by acting on the growth plates of long bones, and a CNP variant is clinically used for achondroplasia treatment. We previously reported that CNP stimulates the autonomic Ca2+ influx mediated by TRPM7 channels in growth plate chondrocytes to facilitate extracellular ...
Takaaki Kawabe, Atsuhiko Ichimura, Tomoki Yasue, Jianhong Li, Haruki Ishikawa, Ga Eun Kim, Hiroki Nagatomo, Naoto Minamino, Yohei Ueda, Hiromu Ito, Miyuki Nishi, Hiroshi Takeshima   +11 more
wiley   +1 more source

Phosphatase inhibition by LB-100 enhances BMN-111 stimulation of bone growth

JCI Insight, 2021
Activating mutations in fibroblast growth factor receptor 3 (FGFR3) and inactivating mutations in the natriuretic peptide receptor 2 (NPR2) guanylyl cyclase both result in decreased production of cyclic GMP in chondrocytes and severe short stature ...
Leia C. Shuhaibar, Nabil Kaci, Jeremy R. Egbert, Thibault Horville, Léa Loisay, Giulia Vigone, Tracy F. Uliasz, Emilie Dambroise, Mark R. Swingle, Richard E. Honkanen, Martin Biosse Duplan, Laurinda A. Jaffe, Laurence Legeai-Mallet   +12 more
doaj   +1 more source

ON THE ISSUE OF ACHONDROPLASIA

Паёми Сино
Achondroplasia is the most common type of skeletal dysplasia. The basis of the disease lies in impaired processes of endochondral ossification as a result of an FGFR3 mutation (fibroblast growth factor receptor 3).
Grigorieva Alyona Vladimirovna, Bakhteeva Nellie Khasyanovna, Norkin Igor Alekseevich   +2 more
doaj   +1 more source

Development of a Weight-Band Dosing Approach for Vosoritide in Children with Achondroplasia Using a Population Pharmacokinetic Model [PDF]

BACKGROUND AND OBJECTIVE: Vosoritide is a recently approved therapy for achondroplasia, the most common form of disproportionate short stature, that has been shown to be well tolerated and effective in increasing linear growth.
Henshaw, J, Savarirayan, Ravi, Day, J, Larimore, Kevin, Ozono, Keiichi, Henshaw, Joshua, Cherukuri, Anu, Bacino, Carlos A., Qi, Y, Fisheleva, E, Wilcox, WR, Mohnike, Klaus, Irving, Melita, Wilcox, William R., Ozono, K, Savarirayan, R, Chan, Ming Liang, Bober, Michael B, Bober, MB, Mohnike, K, Bober, Michael B., Irving, M, Chan, ML, Bacino, CA, Fisheleva, Elena, Larimore, K, Hoover-Fong, J, Hoover-Fong, Julie, Mould, Diane R., Mould, Diane R, Bacino, Carlos A, Cherukuri, A, Day, Jonathan, Wilcox, William R, Mould, DR, Qi, Yulan   +35 more
core   +1 more source