Results 171 to 180 of about 22,553 (288)

Generation of a human induced pluripotent stem cell line (JSPHi003-A) from a patient with atrial fibrillation and ventricular tachycardia carrying LMNA frame shift mutation (c.1304_1307dup)

Stem Cell Research, 2022
The iPSC line was generated from the peripheral blood mononuclear cells (PBMCs) from a 53-year-old female patient carrying the LMNA gene mutation (c.1304_1307dup) diagnosed with atrial fibrillation and paroxysmal ventricular tachycardia.
Zhiqiao Lin, Hongyi Cheng, Yike Zhang, Bingyu Zheng, Feng Zhang, Yongping Lin, Yue Zhu, Weizhu Ju, Chang Cui, Minglong Chen   +9 more
doaj  

Nesprin-2 giant safeguards nuclear envelope architecture in LMNA S143F progeria cells [PDF]

, 2007
Sebastian Kandert, Yvonne Lüke, Tobias Kleinhenz, Sascha Neumann, Wenshu Lu, Verena M. Jaeger, Martina Munck, Manfred Wehnert, Clemens R. Müller, Zhongjun Zhou, Angelika A. Noegel, Marie‐Christine Dabauvalle, Iakowos Karakesisoglou   +12 more
openalex   +1 more source

Evaluating the association of common LMNA variants with type 2 diabetes and quantitative metabolic phenotypes in French Europids [PDF]

, 2007
Konsta Duesing, G. Charpentier, Michel Marre, Jean Tichet, Serge Herçberg, Philippe Froguel, Faith Gibson   +6 more
openalex   +1 more source

Pathogenic LMNA variants disrupt cardiac lamina-chromatin interactions and de-repress alternative fate genes.

Cell Stem Cell, 2021
P. Shah, Wenjian Lv, Joshua Rhoades, A. Poleshko, D. Abbey, M. Caporizzo, Ricardo Linares-Saldana, Julie Heffler, N. Sayed, Dilip Thomas, Qiaohong Wang, Liam J. Stanton, K. Bedi, M. Morley, T. Cappola, A. Owens, K. Margulies, D. Frank, Joseph C. Wu, D. Rader, Wenli Yang, B. Prosser, K. Musunuru, Rajan Jain   +23 more
semanticscholar   +1 more source

Second-order cosmological perturbations. III. Produced by scalar-scalar coupling during radiation-dominated stage

, 2018
We study the 2nd-order scalar, vector and tensor metric perturbations in Robertson-Walker (RW) spacetime in synchronous coordinates during the radiation dominated (RD) stage. The dominant radiation is modeled by a relativistic fluid described by a stress
Wang, Bo, Zhang, Yang
core   +1 more source

[A complex case of diabetes due to LMNA mutation].

La Revue de medecine interne, 2017
IntroductionLes laminopathies (maladies liées aux mutations des lamines A/C) sont des maladies génétiques rares, au spectre phénotypique étendu, incluant les syndromes lipodystrophiques (se caractérisant par une perte sélective de tissu adipeux), dont la forme familiale partielle de type Dunnigan est la plus fréquente.ObservationIl s’agit d’une ...
Ambonville, C., Bouldouyre, M.-A., Laforêt, P., Richard, P., Benveniste, Olivier, Vigouroux, C.   +5 more
openaire   +2 more sources

Obstructive sleep apnea in 2 women with familial partial lipodystrophy due to a heterozygous LMNA R482Q mutation [PDF]

, 2007
Robert A. Hegele, Salam A Al-Attar, Brian K. Rutt   +2 more
openalex   +1 more source

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C [PDF]

, 2008
Julia Rankin, Michaela Auer‐Grumbach, Warwick Bagg, Kevin Colclough, Nguyễn Thùy Dương, Jane Fenton‐May, Andrew T. Hattersley, Judith A. Hudson, Philip Jardine, Dragana Josifova, Cheryl Longman, Robert McWilliam, Katharine R. Owen, Mark S. Walker, Manfred Wehnert, Sian Ellard   +15 more
openalex   +1 more source

DNA methylation associated with postpartum depressive symptoms overlaps findings from a genome-wide association meta-analysis of depression [PDF]

, 2019
Background Perinatal depressive symptoms have been linked to adverse maternal and infant health outcomes. The etiology associated with perinatal depressive psychopathology is poorly understood, but accumulating evidence suggests that understanding inter ...
Kinser, Patricia A., Kirkpatrick, Robert M., Lapato, Dana M., Roberson-Nay, Roxann, Webb, Bradley T., York, Timothy P.   +5 more
core   +1 more source

Severe Mandibuloacral Dysplasia-Associated Lipodystrophy and Progeria in a Young Girl with a Novel Homozygous Arg527Cys LMNA Mutation [PDF]

, 2008
Anil K. Agarwal, Irina Kazachkova, Svetlana Ten, Abhimanyu Garg   +3 more
openalex   +1 more source