Results 241 to 250 of about 126,048 (295)

Antenatal Presentation of MRPS22‐Related Mitochondrial Disease Confirmed With Rapid Proteomics

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT MRPS22‐related mitochondrial disease (MIM#611719) is a rare autosomal recessive disorder caused by defects in the mitochondrial ribosomal protein S22, a component of the small mitoribosomal subunit essential for mitochondrial translation. Of the few reported cases, most present antenatally with a severe phenotype, conveying a poor prognosis ...
Liana N. Semcesen, Megan Ball, Daniella H. Hock, Juliet Kaye, Aimee Woods, Lucas De Jong, MitoMDT Diagnostic Network for Genomics and Omics, David R. Thorburn, Aleksandra Filipovska, Michael T. Ryan, David A. Stroud, Diana Stojanovski, David Coman, Sean Murray, Ryan L. Davis, John Christodoulou, Suzanne C. E. H. Sallevelt, Roula Ghaoui, Cas Simons, Stefan J. Siira, Shanti Balasubramaniam, Alison G. Compton, Daniel G. MacArthur, Nicole J. Lake, Drago Bratkovic, Joy Lee, Maina Kava, Amanda Samarasinghe, Yoni Elbaum, Catherine Atthow, Pauline McGrath, Tegan Stait, Rocio Rius, Liana N. Semcesen, Megan Ball, Daniella Hock, Luke E. Formosa, Ellenore M. Martin, Madeleine Harris, John Christodoulou, David R. Thorburn, Alison G. Compton, David A. Stroud, Jan Liebelt   +43 more
wiley   +1 more source

A Novel Mechanism of Salvianolic Acid B in Postmyocardial Infarction Cardiac Protection: PHB1‐Driven Raf‐ERK Pathway Activation Promotes Cardiomyocyte Mitosis

MedComm, Volume 7, Issue 5, May 2026.
SalB binds to the C‐terminal of PHB1/2 heterodimer, inducing a conformational change that enhances Raf‐ERK pathway activation via Akt‐mediated phosphorylation, thereby promoting cardiomyocyte mitosis. ABSTRACT Heart failure (HF) following myocardial infarction remains a leading cause of global morbidity and mortality, necessitating novel therapeutic ...
Ce Cao, Bo Ma, Jian Zhang, Lili Yang, Zixin Liu, Haoran Li, Jianshu Song, Keer Zhang, Lei Li, Jianhua Fu, Jianxun Liu   +10 more
wiley   +1 more source

Dilated Cardiomyopathy and Later Onset Limb-Girdle Muscular Dystrophy Associated With Fukutin and LaminA/C Mutations. [PDF]

JACC Case Rep
Cardona Perez A, Moenning R, Bodkin C, Gutmann L, Helm BM, Wells L, Moore SA, Ilonze OJ.   +7 more
europepmc   +1 more source

Severely Dilated Cardiomyopathy and Cardiogenic Shock in a Patient With Thyroid Storm. [PDF]

JCEM Case Rep
Amini M, Liebich J, Ling G.
europepmc   +1 more source

Phenotypes and mechanisms of dysfunctional cardiac T-lymphocytes in dilated cardiomyopathy patients. [PDF]

J Mol Cell Cardiol
Angelotti A, Ponnusamy T, Kumar V, Passarelli GV, Malysz J, Mahesh B, Soleimani B, Bradley EA, Bansal SS.   +8 more
europepmc   +1 more source

CMR-LGE imaging features of dilated cardiomyopathy and relationship with left ventricular function. [PDF]

Sci Rep
Zhang B, Liu Z, Farooq S, Du M, Lu P, Yang Y, Chen W.   +6 more
europepmc   +1 more source

Intragenic <i>TTN</i> Deletions in a Single Family with Dilated Cardiomyopathy. [PDF]

Appl Clin Genet
Wayhelova M, Peldova P, Krebsova A, Nemcikova M, Sojka M, Macek M.   +5 more
europepmc   +1 more source

An Unusual Case of Acquired Dilated Cardiomyopathy Due to Long-Standing Patent Ductus Arteriosus. [PDF]

Cureus
Giannopoulou E, Tsilivarakis D, Lekaditi M, Kosmopoulou S.   +3 more
europepmc   +1 more source

Desmin-p.L112Q Disturbs Filament Formation and Is a Likely-Pathogenic Variant Associated with Dilated Cardiomyopathy. [PDF]

J Cardiovasc Dev Dis
Lütkemeyer A, Voß S, Reckmann J, Groß J, Gärtner A, Gummert J, Milting H, Brodehl A.   +7 more
europepmc   +1 more source

Can Peripheral Venous Oxygen Saturation Predict Clinical Decompensation in Pediatric Dilated Cardiomyopathy? [PDF]

Turk Arch Pediatr
Özdemir Şahan Y, Torun EG, Ece İ, Çetin İİ.   +3 more
europepmc   +1 more source