Results 111 to 120 of about 22,553 (288)

Familial partial lipodystrophy (Dunnigan syndrome) due to LMNA gene mutation: The first description of its clinical case in Russia

Терапевтический архив, 2015
Hereditary lipodystrophies (HLD) are a heterogeneous group of rare diseases characterized by a complete or partial loss of subcutaneous fat and by the development of metabolic disturbances: diabetes mellitus with obvious insulin resistance and acanthosis
E L Sorkina, M F Kalashnikova, G A Melnichenko, A N Tyulpakov   +3 more
doaj  

A new laminopathy caused by an Arg133/Leu mutation in lamin A/C and the effects thereof on adipocyte differentiation and the transcriptome

Adipocyte, 2019
We report a new laminopathy that includes generalized lipoatrophy, insulin-resistant diabetes, micrognathia and biopsy-proven, focal segmental glomerulosclerosis in a female, caused by a de novo heterozygous mutation R133L in the lamin A/C gene (LMNA ...
Zhe Wang, Yueting Dong, Jing Yang, Yingzi He, Xihua Lin, Fang Wu, Hong Li, Fenping Zheng   +7 more
doaj   +1 more source

A Study of Gene Expression, Structure, and Contractility of iPSC-Derived Cardiac Myocytes from a Family with Heart Disease due to LMNA Mutation

Annals of Biomedical Engineering, 2021
Genetic mutations to the Lamin A/C gene (LMNA) can cause heart disease, but the mechanisms making cardiac tissues uniquely vulnerable to the mutations remain largely unknown.
Mehrsa Mehrabi, Tessa A. Morris, Zixuan Cang, Cecilia H. H. Nguyen, Yutong Sha, Mira N Asad, Nyree Khachikyan, Taylor L Greene, Danielle Becker, Q. Nie, M. Zaragoza, A. Grosberg   +11 more
semanticscholar   +1 more source

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

Mice with reduced expression of the telomere-associated protein Ft1 develop p53-sensitive progeroid traits [PDF]

, 2018
Human AKTIP and mouse Ft1 are orthologous ubiquitin E2 variant proteins involved in telomere maintenance and DNA replication. AKTIP also interacts with A- and B-type lamins.
Ana, Cumano, Bartolazzi, Armando, Bucciarelli, Elisabetta, Burla, Romina, Carcuro, Mariateresa, DEL GIUDICE, Simona, Gatti, Maurizio, Giulia, Piaggio, Ilaria, Virdia, Isabella, Manni, LA TORRE, Mattia, Merigliano, Chiara, Mottini, Carla, RAMPIONI VINCIGUERRA, GIAN LUCA, Riminucci, Mara, Saggio, Isabella, Silvia, Soddu, Verni', Fiammetta, Zanetti, Giorgia   +18 more
core   +1 more source

Dilated cardiomyopathy evaluation with Imagenomics: combining multimodal cardiovascular imaging and genetics

ESC Heart Failure, EarlyView.
Systematic approach to dilated cardiomyopathy diagnosis. Dilated cardiomyopathy is a clinical diagnosis characterized by the presence of left ventricular dilatation and systolic disfunction unexplained by abnormal loading conditions or coronary artery disease.
Kristian Galanti, Ghaith Sharaf Dabbagh, Fabrizio Ricci, Sabina Gallina, Roberta Giansante, Ron Jacob, Edmond Obeng‐Gyimah, Leslie T. Cooper Jr, Sanjay K. Prasad, David H. Birnie, Andrew P. Landstrom, Selma F. Mohammed, Saidi Mohiddin, Mohammed Y. Khanji, Anwar A. Chahal   +14 more
wiley   +1 more source

A practical approach to the patient presenting with dropped head [PDF]

, 2016
Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core   +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

Cardiac rhythm devices in heart failure with reduced ejection fraction – role, timing, and optimal use in contemporary practice. European Journal of Heart Failure expert consensus document

European Journal of Heart Failure, EarlyView.
Abstract Guidelines for management of heart failure with reduced ejection fraction (HFrEF) emphasize personalized care, patient engagement, and shared decision‐making. Medications and cardiac rhythm management (CRM) devices are recommended with a high level of evidence. However, there are significant disparities: patients who could benefit from devices
Biykem Bozkurt, Wilfried Mullens, Christophe Leclercq, Andrea M. Russo, Gianluigi Savarese, Michael Böhm, Loreena Hill, Koichiro Kinugawa, Naoki Sato, William T. Abraham, Antoni Bayes‐Genis, Alexandre Mebazaa, Giuseppe M.C. Rosano, Shelley Zieroth, Cecilia Linde, Javed Butler   +15 more
wiley   +1 more source

The Pathogenic Mechanisms of and Novel Therapies for Lamin A/C-Related Dilated Cardiomyopathy Based on Patient-Specific Pluripotent Stem Cell Platforms and Animal Models

Pharmaceuticals
Variants (pathogenic) of the LMNA gene are a common cause of familial dilated cardiomyopathy (DCM), which is characterised by early-onset atrioventricular (AV) block, atrial fibrillation and ventricular tachyarrhythmias (VTs), and progressive heart ...
Xin-Yi Wu, Yee-Ki Lee, Yee-Man Lau, Ka-Wing Au, Yiu-Lam Tse, Kwong-Man Ng, Chun-Ka Wong, Hung-Fat Tse   +7 more
doaj   +1 more source