Results 261 to 270 of about 80,027 (353)

Human hypoxia models in aerospace medicine: Potential applications for human pharmacological research

British Journal of Clinical Pharmacology, EarlyView.
Aerospace medicine required controlled terrestrial models to investigate influences of altered atmosphere conditions, such as hypoxia, on human health and performance. These models could potentially be expanded to encompass disease conditions or treatment targets regulated through hypoxia or hypercapnia.
Titiaan E. Post, Cayla Denney, Adam Cohen, Jens Jordan, Ulrich Limper   +4 more
wiley   +1 more source

Nusinersen for children with type I spinal muscular atrophy: 4 years' clinical experience in Turkish cohort. [PDF]

Front Neurol
Bektaş Ö, Gülşen M, Dursun OB, Tekin A, Yüksel D, Demir E, Öztürk G, Saltık S, Hergüler Ö, Özçelik AA, Tan H, Özgör B, Ekici A, Yüksel MF, Şahin S, Duman Ö, Kömür M, Baydan F, Yıldız EP, Kara B, Yiş U, Kanmaz S, Çarman KB, Arslan EA, Canpolat M, Güven AS, Öztuncer G, Ünalp A, Ardıçlı D, Karaduman AA, Zararsız G, Deda G, Turkish SMA Study Group.   +32 more
europepmc   +1 more source

Mapping VEXAS‐associated and rare UBA1 variants in the United Kingdom: Insights from patient cohorts and the general population

British Journal of Haematology, EarlyView.
VEXAS syndrome is a late‐onset inflammatory disorder with rheumatological and haematological features. Epidemiological studies of VEXAS syndrome so far have been limited. Analysis of various UK cohorts estimates the incidence of VEXAS to be 1.51/100 000, or 171 new cases in the population of men over the age of 50 who are being investigated for myeloid
Ana Martinez Rodriguez, Leon Chang, Dorota Rowczenio, Alexandra Smith, Ebun Omoyinmi, James A. Poulter, Andrew McGregor, Sebastian Francis, Roochi Trikha, Adam Al‐Hakim, Kar Lok Kong, David G. Kent, Helen Lachmann, Austin Kulasekararaj, Catherine Cargo, Sinisa Savic   +15 more
wiley   +1 more source

A de novo deletion underlying spinal muscular atrophy: implications for carrier testing and genetic counseling. [PDF]

Hum Mol Genet
Zwartkruis MM, de Pagter MS, Gommers D, Koopmans M, Ottenheim CPE, Kortooms JV, Albring M, Elferink MG, Wadman RI, Asselman FL, Cuppen I, van der Pol WL, Nelen MR, van Haaften GW, Groen EJN.   +14 more
europepmc   +1 more source

Protective role of Angiogenin in muscle regeneration in amyotrophic lateral sclerosis: Diagnostic and therapeutic implications

Brain Pathology, EarlyView.
Elevated angiogenin levels in skeletal muscle are linked to slower disease progression, enhanced regeneration, and vascularization through satellite‐endothelial interaction during myogenesis in ALS. Angiogenin and its tiRNAs may serve as prognostic markers and therapeutic targets for ALS.
Paola Fabbrizio, Sharada Baindoor, Cassandra Margotta, Junyi Su, Elena P. Morrissey, Ina Woods, Marion C. Hogg, Sara Vianello, Morten T. Venø, Jørgen Kjems, Gianni Sorarù, Caterina Bendotti, Jochen H. M. Prehn, Giovanni Nardo   +13 more
wiley   +1 more source

Spinal muscular atrophy in Brazil: from individual treatment to global management. [PDF]

J Pediatr (Rio J)
Servais L, Moreno CAM.
europepmc   +1 more source

Interplay between inflammatory reflex and energetic metabolism in endotoxaemia: A role for haem oxygenase 1?

British Journal of Pharmacology, EarlyView.
Inflammation is vital for defence against injury and infection, but excessive inflammation can lead to tissue damage and disease. The central nervous system (CNS) helps regulate immune responses through neuroendocrine pathways, such as the hypothalamic–pituitary–adrenal axis and the anti‐inflammatory reflex, which limit systemic inflammation.
Evelin C. Cárnio, Luiz G. S. Branco, Fernanda Brognara, Patrícia Passaglia, Roberta Foresti, Roberto Motterlini   +5 more
wiley   +1 more source

Operative treatment of severe scoliosis and pelvic obliquity in patients with spinal muscular atrophy: assessment of outcomes and complications. [PDF]

Orphanet J Rare Dis
Sun H, Huang Y, Dong Y, Wang Z, Zhao J, Huang X, Chen W, Shen J.   +7 more
europepmc   +1 more source

Diversity of U1 Small Nuclear RNAs and Diagnostic Methods for Their Mutations

Cancer Science, EarlyView.
Complex interindividual U1 snRNA diversity was unveiled. Mutations in such complex loci were precisely detected with a pangenome graph reference, which enhances the possibility of the human pangenome reference in cancer genomics. ABSTRACT U1 small nuclear RNA (snRNA) mutations are recurrent non‐coding alterations found in various malignancies, yet ...
Takuma Nakashima, Tsubasa Miyauchi, Ryota Takeuchi, Yuriko Sugihara, Yusuke Funakoshi, Fumiharu Ohka, Sachi Maeda, Junko Hirato, Takako Yoshioka, Hajime Okita, Yoshitaka Narita, Yonehiro Kanemura, Yasuhiro Kojima, Yuko Watanabe, Ryuta Saito, Hiromichi Suzuki   +15 more
wiley   +1 more source

Performance of cellulose-based card for direct genetic testing of spinal muscular atrophy. [PDF]

BMC Biotechnol
Wijaya YOS, Ar Rochmah M, Nurputra DK, Farmawati A.   +3 more
europepmc   +1 more source