Results 181 to 190 of about 5,533 (240)

Faculty Opinions recommendation of Chromatin compartment dynamics in a haploinsufficient model of cardiac laminopathy.

, 2019
Bas van Steensel
openalex   +2 more sources

Detection of Nuclear Blebbing and DNA Leakage in Mammalian Cells by Immunofluorescence. [PDF]

J Vis Exp
DiCintio AJ, Joudeh LA, Waldman AS.
europepmc   +1 more source

Homozygous and Compound Heterozygous Mutations in ZMPSTE24 Cause the Laminopathy Restrictive Dermopathy

, 2005
Casey L. Moulson, Gloriosa Go, Jennifer M. Gardner, Allard C. van der Wal, J.H. Sillevis Smitt, Johanna M. van Hagen, Jeffrey H. Miner   +6 more
openalex   +1 more source

Downregulation of Nesprin1 by Runx2 deficiency is critical for the development of skeletal laminopathy-like pathology. [PDF]

Proc Natl Acad Sci U S A
Saito A, Nagayama K, Okada H, Onodera S, Aida N, Nakamura T, Sawada T, Hojo H, Kato S, Azuma T.   +9 more
europepmc   +1 more source

Relationships between nuclear lamins and telomere biology in progeroid laminopathies and cancer

, 2015
R. James Turner
openalex   +1 more source

Clinical and metabolic consequences of a historic pathogenic lamin A/C founder variant. [PDF]

Sci Rep
Wong LY, Torfs T, Vanherle SJV, Janssen J, Claes GRF, Stroeks SLVM, Willemars MMA, Schianchi F, Kapsokalyvas D, Weltjens E, Swinnen A, Strzelecka A, Krapels IPC, Heymans SRB, Glatz J, van den Wijngaard A, Brunner HG, Broers J, Luiken JFP, Hoes MF, Verdonschot JAJ, Nabben M.   +21 more
europepmc   +1 more source

Disheveled Hair and Ear (Dhe), a Spontaneous Mouse Lmna Mutation Modeling Human Laminopathies

, 2010
Paul R. Odgren, C. Herbert Pratt, Carole A. MacKay, April Mason‐Savas, Michelle Curtain, Lindsay S. Shopland, Tsutomu Ichicki, John P. Sundberg, Leah Rae Donahue   +8 more
openalex   +2 more sources

Interplay between microtubule interactome, myonuclei mechanotransduction, and positioning in myopathies. [PDF]

Nucleus
Castellano L, Caillol D, Streichenberger N, Gache V.   +3 more
europepmc   +1 more source

NPPA-Associated Atrial Dilated Cardiomyopathy: Genotypic and Phenotypic Insights From an Ultrarare Inherited Disorder. [PDF]

JACC Case Rep
Forleo C, Dicorato MM, Carella MC, Basile P, Dentamaro I, Santobuono VE, Guaricci AI, Resta N, Ciccone MM, Arbustini E.   +9 more
europepmc   +1 more source

Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations. [PDF]

Front Med (Lausanne)
Horbacz M, Koczkowska M, Rocławski M, Ceynowa M, Madanecki P, Sarkisyan D, Mieczkowski J, Śledzińska K, Dumanski JP, Pankowski R, Piotrowski A.   +10 more
europepmc   +1 more source