Results 81 to 90 of about 3,838 (202)

Genetic Testing Utilization in the U.S. Registry for Childhood Interstitial and Diffuse Lung Diseases

Pediatric Pulmonology, Volume 60, Issue 4, April 2025.
ABSTRACT Introduction Childhood interstitial and diffuse lung diseases (chILD) comprise a diverse group of rare disorders. Identifying the underlying cause is crucial for treatment, prognosis, and estimating recurrence risk. The objective of this study was to assess the utilization of genetic testing for subjects enrolled in the United States National ...
Laura A. Voss, Rebekah J. Nevel, Jennifer A. Wambach, Lawrence M. Nogee, Robin R. Deterding, Alicia M. Casey, Michael G. O'Connor, Daniel I. Craven, Jane B. Taylor, Gail H. Deutsch, Jade B. Tam‐Williams, Lea C. Steffes, Steven K. Brennan, Maria T. Santiago, Sara C. Sadreameli, Andrea F. Heras, Michael R. Powers, Antonia P. Popova, Manvi Bansal, Aaron Hamvas, William A. Gower, Fernando Urrego, Lisa R. Young, for The ChILD Registry Collaborative   +23 more
wiley   +1 more source

Future of fibrodysplasia ossificans progressiva management: A systematic review of investigational therapies

Rheumatology &Autoimmunity, Volume 5, Issue 1, Page 28-36, March 2025.
Fibrodysplasia ossificans progressiva, a rare genetic disorder caused by ACVR1 mutations, leads to soft tissue ossification. Recent advancements, including food and drug administration‐approved palovarotene, show promise despite safety concerns. Therapies like tofacitinib and imatinib demonstrate potential, but larger, controlled trials are essential ...
Muhammad Ikrama, Muhammad Usama, Shifa Israr, Maryam Humayon, Muhammad Umair Javaid, Shafqat Abbas, Muhammad Aliyan Haider   +6 more
wiley   +1 more source

ECSIT‐X4 is Required for Preventing Pressure Overload‐Induced Cardiac Hypertrophy via Regulating Mitochondrial STAT3

Advanced Science, Volume 12, Issue 8, February 24, 2025.
ECSIT‐X4 is the predominant cardiac isoform of ECSIT, encoded by the Ecsit‐X4 transcript variant in adult cardiomyocytes. The splicing junction of exon 9 generates the mouse Ecsit‐X4 isoform, resulting in a recognizable C‐terminal sequence. It is shown that ECSIT‐X4 interacts with STAT3, enhancing the activity of complex I, thereby promoting ...
Xia Lu, Tingting Tong, Haoliang Sun, Yi Chen, Yongfeng Shao, Pengxi Shi, Linli Que, Li Liu, Guoqing Zhu, Qi Chen, Chuanfu Li, Jiantao Li, Shuo Yang, Yuehua Li   +13 more
wiley   +1 more source

Effects of FKBP12 and type II BMP receptors on signal transduction by ALK2 activating mutations associated with genetic disorders [PDF]

, 2018
Various substitution mutations in ALK2, a transmembrane serine/threonine kinase receptor for bone morphogenetic proteins (BMPs), have been identified in patients with genetic disorders such as fibrodysplasia ossificans progressiva (FOP), diffuse ...
Bullock, Alexander, Fujimoto, M, Katagiri, T, Kumagai, K, Kuratani, M, Machiya, A, Ohte, S, Osawa, K, Suda, N, Tsukamoto, S   +9 more
core   +2 more sources

The Hedgehog–GLI1 Pathway Regulates Osteogenic Differentiation of Human Cervical Posterior Longitudinal Ligament Cells by BMP Signalling Pathway

Journal of Cellular and Molecular Medicine, Volume 29, Issue 3, February 2025.
ABSTRACT Cervical ossification of the posterior longitudinal ligament (OPLL) is an ectopic ossification disorder characterised by endochondral ossification. Its aetiology remains to be fully elucidated. This study aimed to clarify its pathogenesis through RNA sequencing of primary cells cultured from patients without cervical OPLL (control, PLL) and ...
Wenbo Xu, Bingbing Ran, Toshimi Aizawa, Wanguo Liu, Jianhui Zhao, Renrui Niu, Zeping Liu, Rui Gu   +7 more
wiley   +1 more source

Fibrodysplasia Ossificans Progressiva (FOP): A Segmental Progeroid Syndrome

Frontiers in Endocrinology, 2020
Segmental progeroid syndromes are commonly represented by genetic conditions which recapitulate aspects of physiological aging by similar, disparate, or unknown mechanisms.
Robert J. Pignolo, Robert J. Pignolo, Robert J. Pignolo, Haitao Wang, Haitao Wang, Haitao Wang, Frederick S. Kaplan, Frederick S. Kaplan, Frederick S. Kaplan   +8 more
doaj   +1 more source

ACVR1 function in health and disease [PDF]

, 2020
Activin A receptor type I (ACVR1) encodes for a bone morphogenetic protein type I receptor of the TGFβ receptor superfamily. It is involved in a wide variety of biological processes, including bone, heart, cartilage, nervous, and reproductive system ...
Pimenta-Lopes, Carolina, Rosa López, José Luis, Sánchez de Diego, Cristina, Valer, José Antonio, Ventura Pujol, Francesc   +4 more
core   +1 more source

Enhanced BMP Signaling Alters Human β‐Cell Identity and Function

Advanced Biology, Volume 9, Issue 1, January 2025.
This study evaluates the association between bone morphogenetic protein (BMP)‐signaling and inflammation‐induced β‐cell failure in the context of diabetes. Results show that proinflammatory cytokines activate BMP signaling in human islets. Furthermore, enhanced BMP signaling reduces β‐cell marker expression, increases ER stress, and impairs β‐cell ...
Esmée Dekker, Javier Triñanes, Amadeo Muñoz Garcia, Natascha de Graaf, Eelco de Koning, Françoise Carlotti   +5 more
wiley   +1 more source

Fibrodysplasia Ossificans Progressiva: treatment and oral considerations [PDF]

, 2018
Treball Final de Grau d'Odontologia, Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona, Curs: 2017-2018, Director: Francesc Ventura PujolFibrodysplasia ossificans progressiva (FOP) is a rare disease with a worldwide prevalence of one ...
Gutiérrez Nava, María Gabriela
core  

Fibrodysplasia ossificans progressiva.

JPMA. The Journal of the Pakistan Medical Association, 2011
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder of the connective tissue characterized by progressive disability as a result of extensive extra skeletal enchondral bone formation and malformed big toes which are often monophalangic.
Nadia, Shaikh, Fehmina, Arif
openaire   +3 more sources