Results 71 to 80 of about 24,019 (217)

The effects of sodium–glucose cotransporter 2 inhibitors on the ‘forgotten’ right ventricle

ESC Heart Failure, Volume 12, Issue 2, Page 1045-1058, April 2025.
Abstract With the progress in diagnosis, treatment and imaging techniques, there is a growing recognition that impaired right ventricular (RV) function profoundly affects the prognosis of patients with heart failure (HF), irrespective of their left ventricular ejection fraction (LVEF).
Liangzhen Qu, Xueting Duan, Han Chen
wiley   +1 more source

Evidence that proteasome-dependent degradation of the retinoblastoma protein in cells lacking A-type lamins occurs independently of gankyrin and MDM2. [PDF]

PLoS ONE, 2007
A-type lamins, predominantly lamins A and C, are nuclear intermediate filaments believed to act as scaffolds for assembly of transcription factors. Lamin A/C is necessary for the retinoblastoma protein (pRB) stabilization through unknown mechanism(s ...
Ryan T Nitta, Catherine L Smith, Brian K Kennedy   +2 more
doaj   +1 more source

Evidence for Drop‐Like Nuclear Deformation in Sheared Endothelial Monolayers

Small, EarlyView.
Physiological shear stress smoothens endothelial monolayers by selectively eliminating less‐spread cells with tall, wrinkled nuclei. Nuclear volume and surface area remain constant, consistent with drop‐like deformation governed by geometric constraints.
Mohammad Mohajeri, Ting‐Ching Wang, Pooja Agarwal, Simran Kaur, Ankit Kumar, Richard B. Dickinson, Abhishek Jain, Tanmay P. Lele   +7 more
wiley   +1 more source

Maternal serum Lamin A is a potential biomarker that can predict adverse pregnancy outcomes

EBioMedicine, 2022
Summary: Background: Maternal serum Lamin A (LMNA) was reported to have potential diagnostic value in the prenatal diagnosis of congenital heart disease (CHD).
Lizhu Chen, Yun Xiu, Qijun Wu, Yu Wang, Yixin Zhang, Jia Xue, Qinbo Wang, Zhengwei Yuan   +7 more
doaj   +1 more source

Mitochondrial DNA Depletion Syndrome 1 (MTDPS1)—A Novel Cause of Premature Ovarian Insufficiency

Clinical Genetics, EarlyView.
We describe a woman with MNGIE due to a novel homozygous TYMP nonsense variant and propose MNGIE as the cause of her premature ovarian insufficiency—a rarely reported association—highlighting the need to consider mitochondrial disease in unexplained POI, especially in atypical, consanguineous presentations. ABSTRACT Mitochondrial DNA depletion syndrome
Michael Matheou, Helen Turner, Deborah Shears, Fredrik Karpe   +3 more
wiley   +1 more source

Emerin deficiency does not exacerbate cardiomyopathy in a murine model of Emery–Dreifuss muscular dystrophy caused by an LMNA gene mutation

Journal of Physiological Sciences, 2023
Emery–Dreifuss muscular dystrophy (EDMD), caused by mutations in genes encoding nuclear envelope proteins, is clinically characterized by muscular dystrophy, early joint contracture, and life-threatening cardiac abnormalities.
Eiji Wada, Kohei Matsumoto, Nao Susumu, Megumi Kato, Yukiko K. Hayashi   +4 more
doaj   +1 more source

Familial Dilated Cardiomyopathy and Isolated Left Ventricular Noncompaction Associated With Lamin A/C Gene Mutations [PDF]

, 2004
[Abstract] LMNA mutations have been associated with familial or sporadic dilated cardiomyopathy (DC), with or without conduction system disease. We studied the LMNA gene in 67 consecutive patients with DC (18 had familial DC, 17 had possible familial DC,
Bouzas-Zubeldia, Beatriz, Castro-Beiras, Alfonso, Crespo-Leiro, María Generosa, Hermida-Prieto, Manuel, Laredo, Rafael, Monserrat, Lorenzo, Muñiz, Javier, Peteiro-Vázquez, Jesús, Rodríguez, Esther, Soler Fernández, Rafaela, Álvarez-García, Nemesio   +10 more
core   +2 more sources

Dermatologic Features of Endocrine Tumor Syndromes—Systematic Review and Meta‐Analysis

International Journal of Dermatology, EarlyView.
ABSTRACT Endocrine tumor syndromes, including multiple endocrine neoplasia types 1, 2A, and 2B (MEN1, MEN2A, MEN2B), Carney complex (CNC), and PTEN hamartoma tumor syndrome (PHTS), are hereditary conditions characterized by multisystem tumor development.
Sára Pálla, Zseraldin Metyovinyi, Fanni Adél Meznerics, Arash Mirzahosseini, Judit Tőke, Miklós Tóth, Henriett Butz, Attila Patócs, Márta Medvecz   +8 more
wiley   +1 more source

Clinical exome performance for reporting secondary genetic findings. [PDF]

, 2014
BACKGROUND : Reporting clinically actionable incidental genetic findings in the course of clinical exome testing is recommended by the American College of Medical Genet- ics and Genomics (ACMG).
Clark, P, Fortina, Paolo, Kricka, Lj, Londin, E, Park, J. Y., Park, Jy, Sponziello, Marialuisa   +6 more
core   +1 more source

Sabotaged Integral HSC Heterogeneity Underlies Essential Thrombocythemia Development

Advanced Science, Volume 13, Issue 7, 3 February 2026.
Single‐cell RNA sequencing (scRNA‐seq) maps how distinct driver mutations remodel hematopoietic stem cell (HSC) programs across essential thrombocythemia (ET). Comparative analysis uncovers both shared and subtype‐specific molecular signatures, identifies a triple‐negative (TN)‐associated HSC population enriched with malignant traits, and reveals the ...
Jingyuan Tong, Di Wang, Haoze Song, Ting Sun, Yanhong Zhao, Wenjing Gu, Lexuan Lin, Yitong Zhao, Yipeng Liang, Xu Jin, Rongfeng Fu, Mankai Ju, Jie Gao, Jinfa Ma, Chengjie Gao, Anqi Zhang, Zhijian Xiao, Erlie Jiang, Renchi Yang, Shihui Ma, Lei Zhang, Lihong Shi   +21 more
wiley   +1 more source